PDZD2 (PDZ domain containing 2) - Rat Genome Database

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Gene: PDZD2 (PDZ domain containing 2) Homo sapiens
Analyze
Symbol: PDZD2
Name: PDZ domain containing 2
RGD ID: 735643
HGNC Page HGNC:18486
Description: Predicted to be involved in cell adhesion. Located in several cellular components, including centriolar satellite; cytosol; and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: activated in prostate cancer protein; AIPC; KIAA0300; papin; PDZ domain containing 3; PDZ domain-containing protein 2; PDZ domain-containing protein 3; PDZK3; PIN1; plakophilin-related armadillo repeat protein-interacting PDZ protein-like
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38531,639,131 - 32,110,932 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl531,639,131 - 32,110,932 (+)EnsemblGRCh38hg38GRCh38
GRCh37531,639,238 - 32,111,038 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36531,834,788 - 32,146,795 (+)NCBINCBI36Build 36hg18NCBI36
Build 34531,675,273 - 32,146,795NCBI
Celera531,679,264 - 31,992,328 (+)NCBICelera
Cytogenetic Map5p13.3NCBI
HuRef531,766,346 - 32,078,169 (+)NCBIHuRef
CHM1_1531,800,063 - 32,112,328 (+)NCBICHM1_1
T2T-CHM13v2.0531,752,824 - 32,224,543 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
17beta-estradiol  (EXP)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
atrazine  (ISO)
azoxystrobin  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
C60 fullerene  (ISO)
cadmium dichloride  (EXP)
calcitriol  (EXP)
capsaicin  (ISO)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
crocidolite asbestos  (ISO)
cumene  (ISO)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (EXP,ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
gentamycin  (ISO)
glyphosate  (ISO)
GW 4064  (ISO)
imidacloprid  (ISO)
Indeno[1,2,3-cd]pyrene  (ISO)
lipopolysaccharide  (EXP,ISO)
maneb  (ISO)
mercury dichloride  (ISO)
methapyrilene  (EXP)
methimazole  (ISO)
methoxychlor  (ISO)
methylmercury chloride  (EXP)
N,N-diethyl-m-toluamide  (ISO)
nickel atom  (EXP)
nickel dichloride  (EXP)
nickel sulfate  (EXP)
ozone  (ISO)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
permethrin  (ISO)
potassium chromate  (EXP)
progesterone  (EXP)
rac-lactic acid  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
serpentine asbestos  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP)
sulforaphane  (EXP)
tert-butyl hydroperoxide  (EXP)
thiabendazole  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
triphenyl phosphate  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1731767   PMID:8889548   PMID:9205841   PMID:10896674   PMID:11289102   PMID:12370826   PMID:12421765   PMID:12477932   PMID:12671685   PMID:14702039   PMID:16413998   PMID:18037333  
PMID:18639375   PMID:19046020   PMID:20237496   PMID:20379614   PMID:21061259   PMID:21150319   PMID:21451436   PMID:22145905   PMID:23184150   PMID:23251661   PMID:23782696   PMID:24322204  
PMID:24528284   PMID:24827138   PMID:24927568   PMID:26499835   PMID:26912792   PMID:26918600   PMID:28611215   PMID:29507755   PMID:30896877   PMID:31536960   PMID:31586073   PMID:33864728  
PMID:34349018  


Genomics

Comparative Map Data
PDZD2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38531,639,131 - 32,110,932 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl531,639,131 - 32,110,932 (+)EnsemblGRCh38hg38GRCh38
GRCh37531,639,238 - 32,111,038 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36531,834,788 - 32,146,795 (+)NCBINCBI36Build 36hg18NCBI36
Build 34531,675,273 - 32,146,795NCBI
Celera531,679,264 - 31,992,328 (+)NCBICelera
Cytogenetic Map5p13.3NCBI
HuRef531,766,346 - 32,078,169 (+)NCBIHuRef
CHM1_1531,800,063 - 32,112,328 (+)NCBICHM1_1
T2T-CHM13v2.0531,752,824 - 32,224,543 (+)NCBIT2T-CHM13v2.0
Pdzd2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391512,359,797 - 12,740,052 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1512,359,797 - 12,740,010 (-)EnsemblGRCm39 Ensembl
GRCm381512,359,711 - 12,739,968 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1512,359,711 - 12,739,924 (-)EnsemblGRCm38mm10GRCm38
MGSCv371512,286,809 - 12,522,311 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361512,301,779 - 12,684,649 (-)NCBIMGSCv36mm8
Celera1512,136,823 - 12,373,640 (-)NCBICelera
Cytogenetic Map15A1NCBI
cM Map155.9NCBI
Pdzd2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8263,111,650 - 63,497,520 (-)NCBIGRCr8
mRatBN7.2261,384,614 - 61,770,516 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl261,386,381 - 61,770,524 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx268,516,647 - 68,749,894 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0266,636,963 - 66,872,612 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0261,638,440 - 61,874,092 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0262,399,748 - 62,520,448 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl262,399,748 - 62,634,785 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0282,168,243 - 82,288,609 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4261,828,127 - 61,953,671 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1261,756,359 - 61,864,415 (-)NCBI
Celera257,076,815 - 57,309,194 (+)NCBICelera
Cytogenetic Map2q16NCBI
Pdzd2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542617,600,571 - 17,974,914 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542617,600,722 - 17,974,916 (+)NCBIChiLan1.0ChiLan1.0
PDZD2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2478,199,541 - 78,673,959 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1576,353,166 - 76,827,596 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0578,229,681 - 78,701,213 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1583,611,687 - 84,079,810 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl583,614,460 - 83,921,415 (-)Ensemblpanpan1.1panPan2
PDZD2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1475,336,023 - 75,564,980 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl475,338,791 - 75,564,599 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha474,972,179 - 75,330,536 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0475,855,009 - 76,258,330 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl475,855,011 - 76,258,296 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1475,593,378 - 75,951,613 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0475,723,219 - 76,081,215 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0476,251,243 - 76,609,516 (-)NCBIUU_Cfam_GSD_1.0
Pdzd2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213222,362,795 - 222,724,538 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365188,646,838 - 9,008,767 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365188,647,338 - 8,883,494 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PDZD2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11617,940,113 - 18,355,540 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21619,030,168 - 19,172,176 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PDZD2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1430,920,855 - 31,397,578 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl431,177,342 - 31,398,635 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607121,144,870 - 21,622,475 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pdzd2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475922,411,491 - 22,677,911 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475922,408,934 - 22,677,825 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PDZD2
397 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_178140.2(PDZD2):c.477-55843C>G single nucleotide variant Lung cancer [RCV000095855] Chr5:31927312 [GRCh38]
Chr5:31927418 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.2(PDZD2):c.1407+5450A>G single nucleotide variant Lung cancer [RCV000095856] Chr5:32015932 [GRCh38]
Chr5:32016038 [GRCh37]
Chr5:5p13.3		 uncertain significance
GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3 copy number gain See cases [RCV000051811] Chr5:54839..35680845 [GRCh38]
Chr5:54954..35680947 [GRCh37]
Chr5:107954..35716704 [NCBI36]
Chr5:5p15.33-13.2		 pathogenic
GRCh38/hg38 5p14.1-q11.1(chr5:26593632-50288555)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|See cases [RCV000051834] Chr5:26593632..50288555 [GRCh38]
Chr5:26593741..49584389 [GRCh37]
Chr5:26629498..49620146 [NCBI36]
Chr5:5p14.1-q11.1		 pathogenic
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 copy number gain See cases [RCV000051810] Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12		 pathogenic
GRCh38/hg38 5p13.3-13.2(chr5:30149035-35213678)x1 copy number loss See cases [RCV000053449] Chr5:30149035..35213678 [GRCh38]
Chr5:30149142..35213780 [GRCh37]
Chr5:30184899..35249537 [NCBI36]
Chr5:5p13.3-13.2		 pathogenic
GRCh38/hg38 5p13.3(chr5:30121868-32072887)x1 copy number loss See cases [RCV000054132] Chr5:30121868..32072887 [GRCh38]
Chr5:30121975..32072993 [GRCh37]
Chr5:30157732..32108750 [NCBI36]
Chr5:5p13.3		 uncertain significance
GRCh38/hg38 5p13.3(chr5:30138275-32106743)x1 copy number loss See cases [RCV000054133] Chr5:30138275..32106743 [GRCh38]
Chr5:30138382..32106849 [GRCh37]
Chr5:30174139..32142606 [NCBI36]
Chr5:5p13.3		 uncertain significance
NM_178140.2(PDZD2):c.789C>T (p.Val263=) single nucleotide variant Malignant melanoma [RCV000066897] Chr5:31983467 [GRCh38]
Chr5:31983573 [GRCh37]
Chr5:32019330 [NCBI36]
Chr5:5p13.3		 not provided
NM_178140.2(PDZD2):c.2835C>T (p.Leu945=) single nucleotide variant Malignant melanoma [RCV000066898] Chr5:32073941 [GRCh38]
Chr5:32074047 [GRCh37]
Chr5:32109804 [NCBI36]
Chr5:5p13.3		 not provided
NM_178140.2(PDZD2):c.6024A>G (p.Glu2008=) single nucleotide variant Malignant melanoma [RCV000066899] Chr5:32089472 [GRCh38]
Chr5:32089578 [GRCh37]
Chr5:32125335 [NCBI36]
Chr5:5p13.3		 not provided
NM_178140.2(PDZD2):c.3979G>A (p.Gly1327Arg) single nucleotide variant Malignant melanoma [RCV000061235] Chr5:32087427 [GRCh38]
Chr5:32087533 [GRCh37]
Chr5:32123290 [NCBI36]
Chr5:5p13.3		 not provided
NM_178140.2(PDZD2):c.5344G>A (p.Asp1782Asn) single nucleotide variant Malignant melanoma [RCV000061236] Chr5:32088792 [GRCh38]
Chr5:32088898 [GRCh37]
Chr5:32124655 [NCBI36]
Chr5:5p13.3		 not provided
NC_000005.10:g.31773872A>G single nucleotide variant Lung cancer [RCV000095854] Chr5:31773872 [GRCh38]
Chr5:31773979 [GRCh37]
Chr5:5p13.3		 uncertain significance
GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3 copy number gain See cases [RCV000133788] Chr5:22149..33418188 [GRCh38]
Chr5:22149..33418294 [GRCh37]
Chr5:75149..33454051 [NCBI36]
Chr5:5p15.33-13.3		 pathogenic
GRCh38/hg38 5p13.3-13.2(chr5:30961310-36143306)x1 copy number loss See cases [RCV000135667] Chr5:30961310..36143306 [GRCh38]
Chr5:30961417..36143408 [GRCh37]
Chr5:30997174..36179165 [NCBI36]
Chr5:5p13.3-13.2		 likely pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1 copy number loss See cases [RCV000135668] Chr5:22149..32248010 [GRCh38]
Chr5:22149..32248116 [GRCh37]
Chr5:75149..32283873 [NCBI36]
Chr5:5p15.33-13.3		 pathogenic
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 copy number gain See cases [RCV000135453] Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11		 pathogenic
GRCh38/hg38 5p13.3(chr5:31208753-32173244)x3 copy number gain See cases [RCV000136806] Chr5:31208753..32173244 [GRCh38]
Chr5:31208860..32173350 [GRCh37]
Chr5:31244617..32209107 [NCBI36]
Chr5:5p13.3		 pathogenic
GRCh38/hg38 5p13.3(chr5:32110628-32149617)x3 copy number gain See cases [RCV000136764] Chr5:32110628..32149617 [GRCh38]
Chr5:32110734..32149723 [GRCh37]
Chr5:32146491..32185480 [NCBI36]
Chr5:5p13.3		 benign
GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1 copy number loss See cases [RCV000138888] Chr5:22149..35831538 [GRCh38]
Chr5:22149..35831640 [GRCh37]
Chr5:75149..35867397 [NCBI36]
Chr5:5p15.33-13.2		 pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3		 pathogenic
GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3 copy number gain See cases [RCV000141246] Chr5:4849498..36818719 [GRCh38]
Chr5:4849611..36818821 [GRCh37]
Chr5:4902611..36854578 [NCBI36]
Chr5:5p15.32-13.2		 pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1 copy number loss See cases [RCV000141844] Chr5:113461..33998289 [GRCh38]
Chr5:113576..33998394 [GRCh37]
Chr5:166576..34034151 [NCBI36]
Chr5:5p15.33-13.2		 pathogenic
NC_000005.10:g.32101294_32159411dup duplication Gestational diabetes mellitus uncontrolled [RCV000161397]|Normal pregnancy [RCV000161396] Chr5:32101294..32159411 [GRCh38]
Chr5:32101400..32159517 [GRCh37]
Chr5:5p13.3		 not provided
NM_178140.2(PDZD2):c.8354-694_*51276dup duplication Gestational diabetes mellitus uncontrolled [RCV000161399]|Normal pregnancy [RCV000161398] Chr5:32107275..32159411 [GRCh38]
Chr5:32107381..32159517 [GRCh37]
Chr5:5p13.3		 not provided
GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3 copy number gain See cases [RCV000239779] Chr5:13461664..46098927 [GRCh37]
Chr5:5p15.2-12		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-33493797)x1 copy number loss See cases [RCV000449075] Chr5:113576..33493797 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
Single allele deletion Global developmental delay [RCV000754926] Chr5:31820212..32131586 [GRCh37]
Chr5:5p13.3		 benign
GRCh38/hg38 5p13.3(chr5:32107275-32159411)x3 copy number gain Gestational diabetes mellitus uncontrolled [RCV002280813]|Normal pregnancy [RCV002280812]|Premature ovarian failure [RCV000225300] Chr5:32107275..32159411 [GRCh38]
Chr5:32107381..32159517 [GRCh37]
Chr5:5p13.3		 benign|not provided
NM_178140.4(PDZD2):c.7957G>A (p.Val2653Met) single nucleotide variant not specified [RCV000238809] Chr5:32098373 [GRCh38]
Chr5:32098479 [GRCh37]
Chr5:5p13.3		 uncertain significance
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041255)x3 copy number gain See cases [RCV000240016] Chr5:22149..34041255 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
NM_178140.4(PDZD2):c.4742G>A (p.Arg1581His) single nucleotide variant not specified [RCV004314483] Chr5:32088190 [GRCh38]
Chr5:32088296 [GRCh37]
Chr5:5p13.3		 uncertain significance
GRCh37/hg19 5p15.33-13.2(chr5:113576-34372083)x1 copy number loss See cases [RCV000446974] Chr5:113576..34372083 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041196)x1 copy number loss See cases [RCV000448019] Chr5:22149..34041196 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3 copy number gain See cases [RCV000512120] Chr5:24281195..46389339 [GRCh37]
Chr5:5p14.2-11		 likely pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p13.3(chr5:31115730-32226629)x3 copy number gain See cases [RCV000510863] Chr5:31115730..32226629 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.1366G>A (p.Gly456Arg) single nucleotide variant not specified [RCV004291187] Chr5:32010441 [GRCh38]
Chr5:32010547 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.3580A>G (p.Thr1194Ala) single nucleotide variant not specified [RCV004300500] Chr5:32077504 [GRCh38]
Chr5:32077610 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.6617C>T (p.Pro2206Leu) single nucleotide variant not specified [RCV004289907] Chr5:32090065 [GRCh38]
Chr5:32090171 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.5899T>G (p.Ser1967Ala) single nucleotide variant not specified [RCV004315281] Chr5:32089347 [GRCh38]
Chr5:32089453 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.4868T>C (p.Ile1623Thr) single nucleotide variant not specified [RCV004307432] Chr5:32088316 [GRCh38]
Chr5:32088422 [GRCh37]
Chr5:5p13.3		 uncertain significance
GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3 copy number gain not provided [RCV000682516] Chr5:113576..35739404 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3 copy number gain not provided [RCV000682542] Chr5:27227243..45685844 [GRCh37]
Chr5:5p14.1-12		 pathogenic
GRCh37/hg19 5p13.3-12(chr5:31351588-43480111)x3 copy number gain not provided [RCV000744593] Chr5:31351588..43480111 [GRCh37]
Chr5:5p13.3-12		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p13.3(chr5:31169236-32002418)x3 copy number gain not provided [RCV000744591] Chr5:31169236..32002418 [GRCh37]
Chr5:5p13.3		 benign
GRCh37/hg19 5p13.3(chr5:32107084-32169547)x3 copy number gain not provided [RCV000744595] Chr5:32107084..32169547 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.3460G>C (p.Asp1154His) single nucleotide variant PDZD2-related disorder [RCV004541840]|not provided [RCV000893631] Chr5:32074566 [GRCh38]
Chr5:32074672 [GRCh37]
Chr5:5p13.3		 benign|likely benign
NM_178140.4(PDZD2):c.8219-43A>T single nucleotide variant not provided [RCV004716657]|not specified [RCV001095501] Chr5:32101062 [GRCh38]
Chr5:32101168 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.2969C>T (p.Pro990Leu) single nucleotide variant PDZD2-related disorder [RCV004533635]|not provided [RCV000948696] Chr5:32074075 [GRCh38]
Chr5:32074181 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.5815G>A (p.Asp1939Asn) single nucleotide variant not provided [RCV000880258] Chr5:32089263 [GRCh38]
Chr5:32089369 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.89C>G (p.Pro30Arg) single nucleotide variant not provided [RCV000922383] Chr5:31799337 [GRCh38]
Chr5:31799444 [GRCh37]
Chr5:5p13.3		 benign
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
NM_178140.4(PDZD2):c.3757T>C (p.Ser1253Pro) single nucleotide variant not specified [RCV004295823] Chr5:32087205 [GRCh38]
Chr5:32087311 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.2518T>C (p.Ser840Pro) single nucleotide variant not specified [RCV004292429] Chr5:32069635 [GRCh38]
Chr5:32069741 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.8353+2151C>T single nucleotide variant not provided [RCV004716658]|not specified [RCV001095503] Chr5:32103390 [GRCh38]
Chr5:32103496 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.4726G>A (p.Gly1576Ser) single nucleotide variant PDZD2-related disorder [RCV004543614]|not provided [RCV000964258] Chr5:32088174 [GRCh38]
Chr5:32088280 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.3683-9C>T single nucleotide variant not provided [RCV004716656]|not specified [RCV001095468] Chr5:32087122 [GRCh38]
Chr5:32087228 [GRCh37]
Chr5:5p13.3		 benign
GRCh37/hg19 5p13.3-13.2(chr5:29720391-34124081)x1 copy number loss not provided [RCV001005668] Chr5:29720391..34124081 [GRCh37]
Chr5:5p13.3-13.2		 uncertain significance
NM_178140.4(PDZD2):c.6474G>A (p.Met2158Ile) single nucleotide variant not specified [RCV004289304] Chr5:32089922 [GRCh38]
Chr5:32090028 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.7845+1524A>G single nucleotide variant not specified [RCV001095502] Chr5:32094548 [GRCh38]
Chr5:32094654 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.4248A>G (p.Pro1416=) single nucleotide variant not provided [RCV004717739]|not specified [RCV001095469] Chr5:32087696 [GRCh38]
Chr5:32087802 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.5352T>A (p.Asp1784Glu) single nucleotide variant not specified [RCV004298398] Chr5:32088800 [GRCh38]
Chr5:32088906 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.3974G>A (p.Gly1325Glu) single nucleotide variant not specified [RCV004326504] Chr5:32087422 [GRCh38]
Chr5:32087528 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.3346T>C (p.Ser1116Pro) single nucleotide variant not specified [RCV004305434] Chr5:32074452 [GRCh38]
Chr5:32074558 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.6546A>G (p.Glu2182=) single nucleotide variant PDZD2-related disorder [RCV004535978]|not provided [RCV000974058] Chr5:32089994 [GRCh38]
Chr5:32090100 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.5562G>A (p.Pro1854=) single nucleotide variant PDZD2-related disorder [RCV004530915]|not provided [RCV000882642] Chr5:32089010 [GRCh38]
Chr5:32089116 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.7106T>C (p.Ile2369Thr) single nucleotide variant PDZD2-related disorder [RCV004543638]|not provided [RCV000974407] Chr5:32090554 [GRCh38]
Chr5:32090660 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.4659C>T (p.Gly1553=) single nucleotide variant not provided [RCV000890235] Chr5:32088107 [GRCh38]
Chr5:32088213 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.2970G>A (p.Pro990=) single nucleotide variant not provided [RCV000913449] Chr5:32074076 [GRCh38]
Chr5:32074182 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.16G>A (p.Asp6Asn) single nucleotide variant PDZD2-related disorder [RCV004533688]|not provided [RCV000956277] Chr5:31799264 [GRCh38]
Chr5:31799371 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.3820A>G (p.Thr1274Ala) single nucleotide variant not provided [RCV001659616] Chr5:32087268 [GRCh38]
Chr5:32087374 [GRCh37]
Chr5:5p13.3		 benign
GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3 copy number gain See cases [RCV001310288] Chr5:29081195..45294031 [GRCh37]
Chr5:5p13.3-12		 pathogenic
GRCh37/hg19 5p14.1-11(chr5:26382110-46389339) copy number gain not specified [RCV002053485] Chr5:26382110..46389339 [GRCh37]
Chr5:5p14.1-11		 pathogenic
NM_178140.4(PDZD2):c.4758G>C (p.Leu1586Phe) single nucleotide variant not specified [RCV004321131] Chr5:32088206 [GRCh38]
Chr5:32088312 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.4438A>C (p.Thr1480Pro) single nucleotide variant not specified [RCV004303326] Chr5:32087886 [GRCh38]
Chr5:32087992 [GRCh37]
Chr5:5p13.3		 uncertain significance
GRCh37/hg19 5p15.33-13.3(chr5:1-32091038)x1 copy number loss not provided [RCV002472712] Chr5:1..32091038 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
NM_178140.4(PDZD2):c.4420C>A (p.Pro1474Thr) single nucleotide variant not specified [RCV004210774] Chr5:32087868 [GRCh38]
Chr5:32087974 [GRCh37]
Chr5:5p13.3		 uncertain significance
GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3 copy number gain not provided [RCV002474514] Chr5:29348753..46389339 [GRCh37]
Chr5:5p13.3-11		 pathogenic
NM_178140.4(PDZD2):c.6437C>T (p.Ser2146Leu) single nucleotide variant not specified [RCV004162084] Chr5:32089885 [GRCh38]
Chr5:32089991 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.6584G>A (p.Arg2195Gln) single nucleotide variant not specified [RCV004086658] Chr5:32090032 [GRCh38]
Chr5:32090138 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.5839A>G (p.Thr1947Ala) single nucleotide variant not specified [RCV004181101] Chr5:32089287 [GRCh38]
Chr5:32089393 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.4673C>A (p.Ser1558Tyr) single nucleotide variant not specified [RCV004108908] Chr5:32088121 [GRCh38]
Chr5:32088227 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.3733G>A (p.Ala1245Thr) single nucleotide variant not specified [RCV004139291] Chr5:32087181 [GRCh38]
Chr5:32087287 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.1826G>A (p.Arg609His) single nucleotide variant not specified [RCV004091154] Chr5:32053809 [GRCh38]
Chr5:32053915 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.5116A>G (p.Met1706Val) single nucleotide variant not specified [RCV004074598] Chr5:32088564 [GRCh38]
Chr5:32088670 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.1525G>T (p.Val509Leu) single nucleotide variant not specified [RCV004095760] Chr5:32048544 [GRCh38]
Chr5:32048650 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.5578A>G (p.Asn1860Asp) single nucleotide variant not specified [RCV004215234] Chr5:32089026 [GRCh38]
Chr5:32089132 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.4672T>G (p.Ser1558Ala) single nucleotide variant not specified [RCV004108907] Chr5:32088120 [GRCh38]
Chr5:32088226 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.6562T>C (p.Ser2188Pro) single nucleotide variant not specified [RCV004102971] Chr5:32090010 [GRCh38]
Chr5:32090116 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.2687G>C (p.Ser896Thr) single nucleotide variant not specified [RCV004144767] Chr5:32072279 [GRCh38]
Chr5:32072385 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.1194G>C (p.Glu398Asp) single nucleotide variant not specified [RCV004079225] Chr5:32000211 [GRCh38]
Chr5:32000317 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.1378G>A (p.Glu460Lys) single nucleotide variant not specified [RCV004080786] Chr5:32010453 [GRCh38]
Chr5:32010559 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.2009G>A (p.Arg670His) single nucleotide variant not provided [RCV004695726]|not specified [RCV004217115] Chr5:32057912 [GRCh38]
Chr5:32058018 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.7484A>G (p.Lys2495Arg) single nucleotide variant not specified [RCV004222588] Chr5:32090932 [GRCh38]
Chr5:32091038 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.1870T>G (p.Ser624Ala) single nucleotide variant not specified [RCV004132347] Chr5:32053853 [GRCh38]
Chr5:32053959 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.1501C>G (p.Leu501Val) single nucleotide variant not specified [RCV004206646] Chr5:32037324 [GRCh38]
Chr5:32037430 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.5414T>G (p.Ile1805Arg) single nucleotide variant not specified [RCV004102585] Chr5:32088862 [GRCh38]
Chr5:32088968 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.3059G>C (p.Arg1020Pro) single nucleotide variant not specified [RCV004169929] Chr5:32074165 [GRCh38]
Chr5:32074271 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.4519A>G (p.Ile1507Val) single nucleotide variant not specified [RCV004237988] Chr5:32087967 [GRCh38]
Chr5:32088073 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.1855A>G (p.Ile619Val) single nucleotide variant not specified [RCV004174930] Chr5:32053838 [GRCh38]
Chr5:32053944 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.8464T>G (p.Ser2822Ala) single nucleotide variant not specified [RCV004079632] Chr5:32108079 [GRCh38]
Chr5:32108185 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.6815C>A (p.Ala2272Asp) single nucleotide variant not specified [RCV004169072] Chr5:32090263 [GRCh38]
Chr5:32090369 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.7702C>T (p.Pro2568Ser) single nucleotide variant not specified [RCV004082562] Chr5:32091150 [GRCh38]
Chr5:32091256 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.7048C>T (p.Arg2350Trp) single nucleotide variant not specified [RCV004227127] Chr5:32090496 [GRCh38]
Chr5:32090602 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.2062A>G (p.Ser688Gly) single nucleotide variant not provided [RCV003434615]|not specified [RCV004120293] Chr5:32057965 [GRCh38]
Chr5:32058071 [GRCh37]
Chr5:5p13.3		 likely benign|uncertain significance
NM_178140.4(PDZD2):c.1687T>G (p.Ser563Ala) single nucleotide variant not provided [RCV004695657]|not specified [RCV004202150] Chr5:32052632 [GRCh38]
Chr5:32052738 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.4910C>T (p.Thr1637Ile) single nucleotide variant not specified [RCV004085266] Chr5:32088358 [GRCh38]
Chr5:32088464 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.4505C>T (p.Ser1502Leu) single nucleotide variant not specified [RCV004169972] Chr5:32087953 [GRCh38]
Chr5:32088059 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.416G>A (p.Arg139Gln) single nucleotide variant not specified [RCV004225987] Chr5:31799664 [GRCh38]
Chr5:31799771 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.2045C>T (p.Ser682Leu) single nucleotide variant not specified [RCV004118848] Chr5:32057948 [GRCh38]
Chr5:32058054 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.577A>T (p.Asn193Tyr) single nucleotide variant not specified [RCV004200774] Chr5:31983255 [GRCh38]
Chr5:31983361 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.4814G>A (p.Arg1605His) single nucleotide variant not specified [RCV004241181] Chr5:32088262 [GRCh38]
Chr5:32088368 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.533G>A (p.Arg178His) single nucleotide variant not specified [RCV004132987] Chr5:31983211 [GRCh38]
Chr5:31983317 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.2161C>T (p.Pro721Ser) single nucleotide variant not specified [RCV004122274] Chr5:32058064 [GRCh38]
Chr5:32058170 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.1408A>G (p.Met470Val) single nucleotide variant not specified [RCV004199336] Chr5:32037231 [GRCh38]
Chr5:32037337 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.6382A>T (p.Ser2128Cys) single nucleotide variant not specified [RCV004230092] Chr5:32089830 [GRCh38]
Chr5:32089936 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.6805C>T (p.Pro2269Ser) single nucleotide variant not specified [RCV004114879] Chr5:32090253 [GRCh38]
Chr5:32090359 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.3516G>T (p.Gln1172His) single nucleotide variant not specified [RCV004180117] Chr5:32074622 [GRCh38]
Chr5:32074728 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.3517C>A (p.Pro1173Thr) single nucleotide variant not specified [RCV004180118] Chr5:32074623 [GRCh38]
Chr5:32074729 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.1885G>A (p.Gly629Arg) single nucleotide variant not specified [RCV004111521] Chr5:32053868 [GRCh38]
Chr5:32053974 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.415C>T (p.Arg139Trp) single nucleotide variant not specified [RCV004233055] Chr5:31799663 [GRCh38]
Chr5:31799770 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.5162C>T (p.Pro1721Leu) single nucleotide variant not specified [RCV004226907] Chr5:32088610 [GRCh38]
Chr5:32088716 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.6254A>G (p.Glu2085Gly) single nucleotide variant not specified [RCV004115794] Chr5:32089702 [GRCh38]
Chr5:32089808 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.1634C>T (p.Pro545Leu) single nucleotide variant not specified [RCV004087952] Chr5:32048653 [GRCh38]
Chr5:32048759 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.1468G>A (p.Glu490Lys) single nucleotide variant not specified [RCV004087169] Chr5:32037291 [GRCh38]
Chr5:32037397 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.5267G>T (p.Ser1756Ile) single nucleotide variant not specified [RCV004109194] Chr5:32088715 [GRCh38]
Chr5:32088821 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.5460G>C (p.Lys1820Asn) single nucleotide variant not specified [RCV004107783] Chr5:32088908 [GRCh38]
Chr5:32089014 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.1530C>A (p.His510Gln) single nucleotide variant not specified [RCV004210955] Chr5:32048549 [GRCh38]
Chr5:32048655 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.2108C>T (p.Ala703Val) single nucleotide variant not specified [RCV004181764] Chr5:32058011 [GRCh38]
Chr5:32058117 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.8176G>T (p.Gly2726Cys) single nucleotide variant not specified [RCV004174666] Chr5:32098592 [GRCh38]
Chr5:32098698 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.6277G>A (p.Val2093Met) single nucleotide variant not specified [RCV004216553] Chr5:32089725 [GRCh38]
Chr5:32089831 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.926G>A (p.Arg309His) single nucleotide variant not specified [RCV004168681] Chr5:31983604 [GRCh38]
Chr5:31983710 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.7448A>G (p.Gln2483Arg) single nucleotide variant not specified [RCV004244066] Chr5:32090896 [GRCh38]
Chr5:32091002 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.5550C>A (p.Ser1850Arg) single nucleotide variant not specified [RCV004187270] Chr5:32088998 [GRCh38]
Chr5:32089104 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.6150C>A (p.Asn2050Lys) single nucleotide variant not specified [RCV004239154] Chr5:32089598 [GRCh38]
Chr5:32089704 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.5182C>G (p.Pro1728Ala) single nucleotide variant not specified [RCV004144706] Chr5:32088630 [GRCh38]
Chr5:32088736 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.299G>T (p.Arg100Leu) single nucleotide variant not specified [RCV004164576] Chr5:31799547 [GRCh38]
Chr5:31799654 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.292G>A (p.Glu98Lys) single nucleotide variant not specified [RCV004159325] Chr5:31799540 [GRCh38]
Chr5:31799647 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.5583G>C (p.Lys1861Asn) single nucleotide variant not specified [RCV004187271] Chr5:32089031 [GRCh38]
Chr5:32089137 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.1822A>G (p.Ile608Val) single nucleotide variant not specified [RCV004089645] Chr5:32053805 [GRCh38]
Chr5:32053911 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.3572G>A (p.Cys1191Tyr) single nucleotide variant not specified [RCV004179277] Chr5:32077496 [GRCh38]
Chr5:32077602 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.1739G>A (p.Arg580Gln) single nucleotide variant not specified [RCV004166610] Chr5:32052684 [GRCh38]
Chr5:32052790 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.844G>C (p.Glu282Gln) single nucleotide variant not specified [RCV004130952] Chr5:31983522 [GRCh38]
Chr5:31983628 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.1570C>T (p.Arg524Trp) single nucleotide variant not specified [RCV004226161] Chr5:32048589 [GRCh38]
Chr5:32048695 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.5495C>A (p.Ser1832Tyr) single nucleotide variant not specified [RCV004175521] Chr5:32088943 [GRCh38]
Chr5:32089049 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.5846C>G (p.Ala1949Gly) single nucleotide variant not specified [RCV004179675] Chr5:32089294 [GRCh38]
Chr5:32089400 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.7936A>G (p.Lys2646Glu) single nucleotide variant not specified [RCV004078738] Chr5:32097369 [GRCh38]
Chr5:32097475 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.7085C>T (p.Ser2362Leu) single nucleotide variant not specified [RCV004102033] Chr5:32090533 [GRCh38]
Chr5:32090639 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.5186A>G (p.Asn1729Ser) single nucleotide variant not specified [RCV004166363] Chr5:32088634 [GRCh38]
Chr5:32088740 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.7445T>C (p.Leu2482Pro) single nucleotide variant not specified [RCV004105099] Chr5:32090893 [GRCh38]
Chr5:32090999 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.4528G>A (p.Asp1510Asn) single nucleotide variant not specified [RCV004203395] Chr5:32087976 [GRCh38]
Chr5:32088082 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.4093A>T (p.Thr1365Ser) single nucleotide variant not specified [RCV004097739] Chr5:32087541 [GRCh38]
Chr5:32087647 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.4427C>T (p.Pro1476Leu) single nucleotide variant not specified [RCV004229323] Chr5:32087875 [GRCh38]
Chr5:32087981 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.271C>T (p.Pro91Ser) single nucleotide variant not specified [RCV004176202] Chr5:31799519 [GRCh38]
Chr5:31799626 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.5272T>C (p.Ser1758Pro) single nucleotide variant not specified [RCV004105038] Chr5:32088720 [GRCh38]
Chr5:32088826 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.7279C>T (p.Arg2427Trp) single nucleotide variant not specified [RCV004089455] Chr5:32090727 [GRCh38]
Chr5:32090833 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.4838G>A (p.Ser1613Asn) single nucleotide variant not specified [RCV004219566] Chr5:32088286 [GRCh38]
Chr5:32088392 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.922C>T (p.Arg308Cys) single nucleotide variant not specified [RCV004096194] Chr5:31983600 [GRCh38]
Chr5:31983706 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.1219G>A (p.Ala407Thr) single nucleotide variant not specified [RCV004220261] Chr5:32000236 [GRCh38]
Chr5:32000342 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.6703C>T (p.Arg2235Trp) single nucleotide variant not specified [RCV004228369] Chr5:32090151 [GRCh38]
Chr5:32090257 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.6085C>A (p.Pro2029Thr) single nucleotide variant not specified [RCV004322888] Chr5:32089533 [GRCh38]
Chr5:32089639 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.5207A>G (p.His1736Arg) single nucleotide variant not specified [RCV004249711] Chr5:32088655 [GRCh38]
Chr5:32088761 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.6611G>T (p.Gly2204Val) single nucleotide variant not specified [RCV004276260] Chr5:32090059 [GRCh38]
Chr5:32090165 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.2071G>A (p.Ala691Thr) single nucleotide variant not specified [RCV004261204] Chr5:32057974 [GRCh38]
Chr5:32058080 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.6631C>T (p.His2211Tyr) single nucleotide variant not specified [RCV004256006] Chr5:32090079 [GRCh38]
Chr5:32090185 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.4001C>T (p.Thr1334Ile) single nucleotide variant not specified [RCV004271074] Chr5:32087449 [GRCh38]
Chr5:32087555 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.745G>A (p.Glu249Lys) single nucleotide variant not specified [RCV004265508] Chr5:31983423 [GRCh38]
Chr5:31983529 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.3356G>T (p.Arg1119Ile) single nucleotide variant not specified [RCV004267370] Chr5:32074462 [GRCh38]
Chr5:32074568 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.6463G>A (p.Glu2155Lys) single nucleotide variant not specified [RCV004273243] Chr5:32089911 [GRCh38]
Chr5:32090017 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.1229T>C (p.Met410Thr) single nucleotide variant not specified [RCV004271559] Chr5:32000246 [GRCh38]
Chr5:32000352 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.8159C>A (p.Pro2720His) single nucleotide variant not specified [RCV004265757] Chr5:32098575 [GRCh38]
Chr5:32098681 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.4936C>G (p.Arg1646Gly) single nucleotide variant not specified [RCV004325355] Chr5:32088384 [GRCh38]
Chr5:32088490 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.3880G>C (p.Glu1294Gln) single nucleotide variant not specified [RCV004281054] Chr5:32087328 [GRCh38]
Chr5:32087434 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.4250G>C (p.Gly1417Ala) single nucleotide variant not specified [RCV004254047] Chr5:32087698 [GRCh38]
Chr5:32087804 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.4153G>A (p.Val1385Met) single nucleotide variant not specified [RCV004251392] Chr5:32087601 [GRCh38]
Chr5:32087707 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.4867A>G (p.Ile1623Val) single nucleotide variant not specified [RCV004255623] Chr5:32088315 [GRCh38]
Chr5:32088421 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.7216G>A (p.Glu2406Lys) single nucleotide variant not specified [RCV004261061] Chr5:32090664 [GRCh38]
Chr5:32090770 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.4888G>C (p.Val1630Leu) single nucleotide variant not specified [RCV004270124] Chr5:32088336 [GRCh38]
Chr5:32088442 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.2519C>G (p.Ser840Cys) single nucleotide variant not specified [RCV004264685] Chr5:32069636 [GRCh38]
Chr5:32069742 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.7522G>A (p.Val2508Met) single nucleotide variant not specified [RCV004290903] Chr5:32090970 [GRCh38]
Chr5:32091076 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.2617G>T (p.Val873Phe) single nucleotide variant not specified [RCV004330144] Chr5:32072209 [GRCh38]
Chr5:32072315 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.8122A>G (p.Met2708Val) single nucleotide variant not specified [RCV004345776] Chr5:32098538 [GRCh38]
Chr5:32098644 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.3432C>A (p.Asn1144Lys) single nucleotide variant not specified [RCV004345520] Chr5:32074538 [GRCh38]
Chr5:32074644 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.4835C>G (p.Ser1612Trp) single nucleotide variant not specified [RCV004338677] Chr5:32088283 [GRCh38]
Chr5:32088389 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.2782C>T (p.Arg928Trp) single nucleotide variant not specified [RCV004342031] Chr5:32073888 [GRCh38]
Chr5:32073994 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.3559A>G (p.Thr1187Ala) single nucleotide variant not specified [RCV004356216] Chr5:32077483 [GRCh38]
Chr5:32077589 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.2771T>C (p.Leu924Pro) single nucleotide variant not specified [RCV004356725] Chr5:32073877 [GRCh38]
Chr5:32073983 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.3145A>G (p.Met1049Val) single nucleotide variant not specified [RCV004339425] Chr5:32074251 [GRCh38]
Chr5:32074357 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.4217C>T (p.Ala1406Val) single nucleotide variant not specified [RCV004339620] Chr5:32087665 [GRCh38]
Chr5:32087771 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.6100G>A (p.Gly2034Arg) single nucleotide variant not specified [RCV004341690] Chr5:32089548 [GRCh38]
Chr5:32089654 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.6167G>A (p.Arg2056His) single nucleotide variant not specified [RCV004339116] Chr5:32089615 [GRCh38]
Chr5:32089721 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.2723C>A (p.Ser908Tyr) single nucleotide variant not specified [RCV004348326] Chr5:32072315 [GRCh38]
Chr5:32072421 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.5533G>A (p.Val1845Ile) single nucleotide variant not specified [RCV004345859] Chr5:32088981 [GRCh38]
Chr5:32089087 [GRCh37]
Chr5:5p13.3		 uncertain significance
GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1 copy number loss not provided [RCV003485447] Chr5:113577..35613146 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
GRCh37/hg19 5p13.3(chr5:32032005-32170613)x1 copy number loss not provided [RCV003485458] Chr5:32032005..32170613 [GRCh37]
Chr5:5p13.3		 uncertain significance
GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3 copy number gain See cases [RCV003482191] Chr5:29299893..45899898 [GRCh38]
Chr5:5p13.3-12		 likely pathogenic
NM_178140.4(PDZD2):c.567C>T (p.Gly189=) single nucleotide variant PDZD2-related disorder [RCV004536760] Chr5:31983245 [GRCh38]
Chr5:31983351 [GRCh37]
Chr5:5p13.3		 likely benign|uncertain significance
NM_178140.4(PDZD2):c.8000G>A (p.Arg2667Gln) single nucleotide variant PDZD2-related disorder [RCV004536814]|not provided [RCV003429585] Chr5:32098416 [GRCh38]
Chr5:32098522 [GRCh37]
Chr5:5p13.3		 benign|likely benign
NM_178140.4(PDZD2):c.5108G>C (p.Ser1703Thr) single nucleotide variant PDZD2-related disorder [RCV003397200] Chr5:32088556 [GRCh38]
Chr5:32088662 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.1521G>C (p.Gly507=) single nucleotide variant not provided [RCV003436430] Chr5:32048540 [GRCh38]
Chr5:32048646 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.5622T>C (p.Thr1874=) single nucleotide variant not provided [RCV003429582] Chr5:32089070 [GRCh38]
Chr5:32089176 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.5859C>T (p.Ser1953=) single nucleotide variant PDZD2-related disorder [RCV004536813]|not provided [RCV003429583] Chr5:32089307 [GRCh38]
Chr5:32089413 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.3426A>G (p.Thr1142=) single nucleotide variant not provided [RCV003429581] Chr5:32074532 [GRCh38]
Chr5:32074638 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.6834T>C (p.Tyr2278=) single nucleotide variant PDZD2-related disorder [RCV004540677]|not provided [RCV003429584] Chr5:32090282 [GRCh38]
Chr5:32090388 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.2153C>A (p.Thr718Asn) single nucleotide variant PDZD2-related disorder [RCV004532124] Chr5:32058056 [GRCh38]
Chr5:32058162 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.875A>G (p.His292Arg) single nucleotide variant PDZD2-related disorder [RCV004532252] Chr5:31983553 [GRCh38]
Chr5:31983659 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.5241C>T (p.Tyr1747=) single nucleotide variant PDZD2-related disorder [RCV004532258] Chr5:32088689 [GRCh38]
Chr5:32088795 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.4274C>T (p.Thr1425Met) single nucleotide variant PDZD2-related disorder [RCV004534689] Chr5:32087722 [GRCh38]
Chr5:32087828 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.2850G>A (p.Gln950=) single nucleotide variant PDZD2-related disorder [RCV004544071] Chr5:32073956 [GRCh38]
Chr5:32074062 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.7066G>A (p.Gly2356Arg) single nucleotide variant PDZD2-related disorder [RCV004539376] Chr5:32090514 [GRCh38]
Chr5:32090620 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.3180G>A (p.Thr1060=) single nucleotide variant PDZD2-related disorder [RCV004542540] Chr5:32074286 [GRCh38]
Chr5:32074392 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.3317C>T (p.Ser1106Phe) single nucleotide variant PDZD2-related disorder [RCV004539418] Chr5:32074423 [GRCh38]
Chr5:32074529 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.6268C>T (p.Leu2090=) single nucleotide variant PDZD2-related disorder [RCV004539423] Chr5:32089716 [GRCh38]
Chr5:32089822 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.3772C>A (p.Gln1258Lys) single nucleotide variant PDZD2-related disorder [RCV004540911] Chr5:32087220 [GRCh38]
Chr5:32087326 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.192C>T (p.Pro64=) single nucleotide variant PDZD2-related disorder [RCV004544069] Chr5:31799440 [GRCh38]
Chr5:31799547 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.4029C>A (p.Asp1343Glu) single nucleotide variant PDZD2-related disorder [RCV004542598] Chr5:32087477 [GRCh38]
Chr5:32087583 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.3297G>A (p.Thr1099=) single nucleotide variant PDZD2-related disorder [RCV004542601] Chr5:32074403 [GRCh38]
Chr5:32074509 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.6247C>T (p.Arg2083Cys) single nucleotide variant PDZD2-related disorder [RCV004539342]|not specified [RCV004369778] Chr5:32089695 [GRCh38]
Chr5:32089801 [GRCh37]
Chr5:5p13.3		 likely benign|uncertain significance
NM_178140.4(PDZD2):c.3732C>T (p.Ala1244=) single nucleotide variant PDZD2-related disorder [RCV004539518] Chr5:32087180 [GRCh38]
Chr5:32087286 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.4725C>T (p.Asp1575=) single nucleotide variant PDZD2-related disorder [RCV004539522] Chr5:32088173 [GRCh38]
Chr5:32088279 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.3366C>T (p.Ala1122=) single nucleotide variant PDZD2-related disorder [RCV004545490] Chr5:32074472 [GRCh38]
Chr5:32074578 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.5625T>C (p.Asn1875=) single nucleotide variant PDZD2-related disorder [RCV004539428] Chr5:32089073 [GRCh38]
Chr5:32089179 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.7785G>A (p.Ser2595=) single nucleotide variant PDZD2-related disorder [RCV004542585] Chr5:32092964 [GRCh38]
Chr5:32093070 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.4275G>A (p.Thr1425=) single nucleotide variant PDZD2-related disorder [RCV004545499] Chr5:32087723 [GRCh38]
Chr5:32087829 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.3702C>T (p.Asp1234=) single nucleotide variant PDZD2-related disorder [RCV004545556] Chr5:32087150 [GRCh38]
Chr5:32087256 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.1848C>T (p.Val616=) single nucleotide variant PDZD2-related disorder [RCV004532193] Chr5:32053831 [GRCh38]
Chr5:32053937 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.2118C>T (p.Ser706=) single nucleotide variant PDZD2-related disorder [RCV004539433] Chr5:32058021 [GRCh38]
Chr5:32058127 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.7114C>G (p.Arg2372Gly) single nucleotide variant PDZD2-related disorder [RCV004539430] Chr5:32090562 [GRCh38]
Chr5:32090668 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.3927G>A (p.Ser1309=) single nucleotide variant PDZD2-related disorder [RCV004545681] Chr5:32087375 [GRCh38]
Chr5:32087481 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.2070C>T (p.Ser690=) single nucleotide variant PDZD2-related disorder [RCV004544122] Chr5:32057973 [GRCh38]
Chr5:32058079 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.676C>A (p.Pro226Thr) single nucleotide variant PDZD2-related disorder [RCV004532207] Chr5:31983354 [GRCh38]
Chr5:31983460 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.3637A>G (p.Asn1213Asp) single nucleotide variant PDZD2-related disorder [RCV004534684] Chr5:32077561 [GRCh38]
Chr5:32077667 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.6408C>G (p.Val2136=) single nucleotide variant PDZD2-related disorder [RCV004532190] Chr5:32089856 [GRCh38]
Chr5:32089962 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.4086G>A (p.Leu1362=) single nucleotide variant PDZD2-related disorder [RCV004532049] Chr5:32087534 [GRCh38]
Chr5:32087640 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.2937A>G (p.Glu979=) single nucleotide variant PDZD2-related disorder [RCV004532209] Chr5:32074043 [GRCh38]
Chr5:32074149 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.4412G>A (p.Arg1471His) single nucleotide variant PDZD2-related disorder [RCV004545504] Chr5:32087860 [GRCh38]
Chr5:32087966 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.3361G>A (p.Val1121Met) single nucleotide variant PDZD2-related disorder [RCV004539389] Chr5:32074467 [GRCh38]
Chr5:32074573 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.5708_5716del (p.Ala1903_Ala1905del) deletion PDZD2-related disorder [RCV004532055] Chr5:32089151..32089159 [GRCh38]
Chr5:32089257..32089265 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.111G>A (p.Ala37=) single nucleotide variant PDZD2-related disorder [RCV004532090] Chr5:31799359 [GRCh38]
Chr5:31799466 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.7797G>T (p.Ser2599=) single nucleotide variant PDZD2-related disorder [RCV004540879] Chr5:32092976 [GRCh38]
Chr5:32093082 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.4782A>G (p.Ser1594=) single nucleotide variant PDZD2-related disorder [RCV004532045] Chr5:32088230 [GRCh38]
Chr5:32088336 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.1833G>A (p.Gln611=) single nucleotide variant PDZD2-related disorder [RCV004532094] Chr5:32053816 [GRCh38]
Chr5:32053922 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.7554C>G (p.Pro2518=) single nucleotide variant PDZD2-related disorder [RCV004539447] Chr5:32091002 [GRCh38]
Chr5:32091108 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.6824A>G (p.Gln2275Arg) single nucleotide variant PDZD2-related disorder [RCV004532073] Chr5:32090272 [GRCh38]
Chr5:32090378 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.3471G>A (p.Ser1157=) single nucleotide variant PDZD2-related disorder [RCV004532075] Chr5:32074577 [GRCh38]
Chr5:32074683 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.7002T>C (p.Ser2334=) single nucleotide variant PDZD2-related disorder [RCV004539480] Chr5:32090450 [GRCh38]
Chr5:32090556 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.4338G>C (p.Thr1446=) single nucleotide variant PDZD2-related disorder [RCV004539483] Chr5:32087786 [GRCh38]
Chr5:32087892 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.2961G>A (p.Gly987=) single nucleotide variant PDZD2-related disorder [RCV004540861] Chr5:32074067 [GRCh38]
Chr5:32074173 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.2694G>A (p.Ser898=) single nucleotide variant PDZD2-related disorder [RCV004539486] Chr5:32072286 [GRCh38]
Chr5:32072392 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.993A>C (p.Arg331=) single nucleotide variant PDZD2-related disorder [RCV004532044] Chr5:31995590 [GRCh38]
Chr5:31995696 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.3623G>A (p.Ser1208Asn) single nucleotide variant PDZD2-related disorder [RCV004539495] Chr5:32077547 [GRCh38]
Chr5:32077653 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.2896G>A (p.Asp966Asn) single nucleotide variant PDZD2-related disorder [RCV004545569] Chr5:32074002 [GRCh38]
Chr5:32074108 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.479A>T (p.Tyr160Phe) single nucleotide variant PDZD2-related disorder [RCV004545706] Chr5:31983157 [GRCh38]
Chr5:31983263 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.4946C>T (p.Ala1649Val) single nucleotide variant PDZD2-related disorder [RCV004540890] Chr5:32088394 [GRCh38]
Chr5:32088500 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.5040G>A (p.Ala1680=) single nucleotide variant PDZD2-related disorder [RCV004532052] Chr5:32088488 [GRCh38]
Chr5:32088594 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.2194A>C (p.Asn732His) single nucleotide variant PDZD2-related disorder [RCV004540913] Chr5:32058097 [GRCh38]
Chr5:32058203 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.1264G>A (p.Ala422Thr) single nucleotide variant PDZD2-related disorder [RCV004537065] Chr5:32010339 [GRCh38]
Chr5:32010445 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.7728-9A>G single nucleotide variant PDZD2-related disorder [RCV004532110] Chr5:32092898 [GRCh38]
Chr5:32093004 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.3040G>A (p.Val1014Ile) single nucleotide variant PDZD2-related disorder [RCV004540912] Chr5:32074146 [GRCh38]
Chr5:32074252 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.3250G>A (p.Ala1084Thr) single nucleotide variant PDZD2-related disorder [RCV004539403] Chr5:32074356 [GRCh38]
Chr5:32074462 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.7794A>G (p.Gly2598=) single nucleotide variant PDZD2-related disorder [RCV004540868] Chr5:32092973 [GRCh38]
Chr5:32093079 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.7440C>T (p.Ser2480=) single nucleotide variant PDZD2-related disorder [RCV004539512] Chr5:32090888 [GRCh38]
Chr5:32090994 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.7203C>T (p.Ser2401=) single nucleotide variant PDZD2-related disorder [RCV004539367] Chr5:32090651 [GRCh38]
Chr5:32090757 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.6252C>T (p.Leu2084=) single nucleotide variant PDZD2-related disorder [RCV004532217] Chr5:32089700 [GRCh38]
Chr5:32089806 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.167C>T (p.Thr56Met) single nucleotide variant PDZD2-related disorder [RCV004539374] Chr5:31799415 [GRCh38]
Chr5:31799522 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.4587T>C (p.Ser1529=) single nucleotide variant PDZD2-related disorder [RCV004543923] Chr5:32088035 [GRCh38]
Chr5:32088141 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.3533A>G (p.Glu1178Gly) single nucleotide variant PDZD2-related disorder [RCV004539366] Chr5:32074639 [GRCh38]
Chr5:32074745 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.7320G>A (p.Ser2440=) single nucleotide variant PDZD2-related disorder [RCV004539424] Chr5:32090768 [GRCh38]
Chr5:32090874 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.4254G>C (p.Gly1418=) single nucleotide variant PDZD2-related disorder [RCV004542589] Chr5:32087702 [GRCh38]
Chr5:32087808 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.957A>G (p.Gln319=) single nucleotide variant PDZD2-related disorder [RCV004537066] Chr5:31983635 [GRCh38]
Chr5:31983741 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.3856C>A (p.His1286Asn) single nucleotide variant PDZD2-related disorder [RCV004534678] Chr5:32087304 [GRCh38]
Chr5:32087410 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.948G>A (p.Thr316=) single nucleotide variant PDZD2-related disorder [RCV004544029] Chr5:31983626 [GRCh38]
Chr5:31983732 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.4110T>C (p.Pro1370=) single nucleotide variant PDZD2-related disorder [RCV004542326] Chr5:32087558 [GRCh38]
Chr5:32087664 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.3249C>T (p.Ser1083=) single nucleotide variant PDZD2-related disorder [RCV004544044] Chr5:32074355 [GRCh38]
Chr5:32074461 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.6758T>C (p.Val2253Ala) single nucleotide variant PDZD2-related disorder [RCV004545505] Chr5:32090206 [GRCh38]
Chr5:32090312 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.6740G>A (p.Arg2247Gln) single nucleotide variant PDZD2-related disorder [RCV004542522] Chr5:32090188 [GRCh38]
Chr5:32090294 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.4108C>T (p.Pro1370Ser) single nucleotide variant PDZD2-related disorder [RCV004536891] Chr5:32087556 [GRCh38]
Chr5:32087662 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.644G>A (p.Arg215Gln) single nucleotide variant PDZD2-related disorder [RCV004537015] Chr5:31983322 [GRCh38]
Chr5:31983428 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.7059C>G (p.Ala2353=) single nucleotide variant PDZD2-related disorder [RCV004537028] Chr5:32090507 [GRCh38]
Chr5:32090613 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.6120G>A (p.Ala2040=) single nucleotide variant PDZD2-related disorder [RCV004536975] Chr5:32089568 [GRCh38]
Chr5:32089674 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.3876G>A (p.Pro1292=) single nucleotide variant PDZD2-related disorder [RCV004540870] Chr5:32087324 [GRCh38]
Chr5:32087430 [GRCh37]
Chr5:5p13.3		 benign
NM_178140.4(PDZD2):c.1220C>T (p.Ala407Val) single nucleotide variant not specified [RCV004505505] Chr5:32000237 [GRCh38]
Chr5:32000343 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.3239G>A (p.Gly1080Glu) single nucleotide variant not specified [RCV004505514] Chr5:32074345 [GRCh38]
Chr5:32074451 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.3472A>G (p.Arg1158Gly) single nucleotide variant not specified [RCV004505516] Chr5:32074578 [GRCh38]
Chr5:32074684 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.4216G>A (p.Ala1406Thr) single nucleotide variant not specified [RCV004505519] Chr5:32087664 [GRCh38]
Chr5:32087770 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.4526C>G (p.Pro1509Arg) single nucleotide variant not specified [RCV004505522] Chr5:32087974 [GRCh38]
Chr5:32088080 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.5039C>T (p.Ala1680Val) single nucleotide variant not specified [RCV004505526] Chr5:32088487 [GRCh38]
Chr5:32088593 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.5159G>C (p.Ser1720Thr) single nucleotide variant not specified [RCV004505527] Chr5:32088607 [GRCh38]
Chr5:32088713 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.5716G>A (p.Val1906Met) single nucleotide variant not specified [RCV004505529] Chr5:32089164 [GRCh38]
Chr5:32089270 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.845A>C (p.Glu282Ala) single nucleotide variant not specified [RCV004505554] Chr5:31983523 [GRCh38]
Chr5:31983629 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.8479C>T (p.Pro2827Ser) single nucleotide variant not specified [RCV004505555] Chr5:32108094 [GRCh38]
Chr5:32108200 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.856G>C (p.Val286Leu) single nucleotide variant not specified [RCV004505556] Chr5:31983534 [GRCh38]
Chr5:31983640 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.914A>G (p.Asn305Ser) single nucleotide variant not specified [RCV004505557] Chr5:31983592 [GRCh38]
Chr5:31983698 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.8326C>T (p.Pro2776Ser) single nucleotide variant not specified [RCV004505551] Chr5:32101212 [GRCh38]
Chr5:32101318 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.6028G>A (p.Asp2010Asn) single nucleotide variant not specified [RCV004505530] Chr5:32089476 [GRCh38]
Chr5:32089582 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.5294C>G (p.Pro1765Arg) single nucleotide variant not specified [RCV004659767] Chr5:32088742 [GRCh38]
Chr5:32088848 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.7040A>G (p.Asn2347Ser) single nucleotide variant not specified [RCV004659768] Chr5:32090488 [GRCh38]
Chr5:32090594 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.2000T>G (p.Leu667Ter) single nucleotide variant Lissencephaly [RCV004566529] Chr5:32057903 [GRCh38]
Chr5:32058009 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.6619T>G (p.Ser2207Ala) single nucleotide variant not specified [RCV004505539] Chr5:32090067 [GRCh38]
Chr5:32090173 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.8029G>A (p.Ala2677Thr) single nucleotide variant not specified [RCV004505549] Chr5:32098445 [GRCh38]
Chr5:32098551 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.781G>A (p.Gly261Ser) single nucleotide variant not specified [RCV004505548] Chr5:31983459 [GRCh38]
Chr5:31983565 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.7789G>A (p.Val2597Met) single nucleotide variant not specified [RCV004505547] Chr5:32092968 [GRCh38]
Chr5:32093074 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.757G>A (p.Gly253Ser) single nucleotide variant not specified [RCV004505546] Chr5:31983435 [GRCh38]
Chr5:31983541 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.7515G>A (p.Pro2505=) single nucleotide variant not specified [RCV004505545] Chr5:32090963 [GRCh38]
Chr5:32091069 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.7409G>A (p.Arg2470His) single nucleotide variant not specified [RCV004505544] Chr5:32090857 [GRCh38]
Chr5:32090963 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.6961T>C (p.Tyr2321His) single nucleotide variant not specified [RCV004505543] Chr5:32090409 [GRCh38]
Chr5:32090515 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.6868C>T (p.Leu2290Phe) single nucleotide variant not specified [RCV004505542] Chr5:32090316 [GRCh38]
Chr5:32090422 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.6644C>A (p.Thr2215Asn) single nucleotide variant not specified [RCV004505541] Chr5:32090092 [GRCh38]
Chr5:32090198 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.6622G>C (p.Gly2208Arg) single nucleotide variant not specified [RCV004505540] Chr5:32090070 [GRCh38]
Chr5:32090176 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.8239G>A (p.Asp2747Asn) single nucleotide variant not specified [RCV004505550] Chr5:32101125 [GRCh38]
Chr5:32101231 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.659G>A (p.Gly220Glu) single nucleotide variant not specified [RCV004505537] Chr5:31983337 [GRCh38]
Chr5:31983443 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.6407T>C (p.Val2136Ala) single nucleotide variant not specified [RCV004505536] Chr5:32089855 [GRCh38]
Chr5:32089961 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.623G>A (p.Arg208Gln) single nucleotide variant not specified [RCV004505535] Chr5:31983301 [GRCh38]
Chr5:31983407 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.6178C>T (p.His2060Tyr) single nucleotide variant not specified [RCV004505534] Chr5:32089626 [GRCh38]
Chr5:32089732 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.6139G>A (p.Val2047Met) single nucleotide variant not specified [RCV004505533] Chr5:32089587 [GRCh38]
Chr5:32089693 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.6104C>T (p.Pro2035Leu) single nucleotide variant not specified [RCV004505532] Chr5:32089552 [GRCh38]
Chr5:32089658 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.6098C>G (p.Ser2033Cys) single nucleotide variant not specified [RCV004505531] Chr5:32089546 [GRCh38]
Chr5:32089652 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.124C>A (p.Leu42Met) single nucleotide variant not specified [RCV004505506] Chr5:31799372 [GRCh38]
Chr5:31799479 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.1441G>A (p.Gly481Ser) single nucleotide variant not specified [RCV004505507] Chr5:32037264 [GRCh38]
Chr5:32037370 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.2050C>A (p.Pro684Thr) single nucleotide variant not specified [RCV004505508] Chr5:32057953 [GRCh38]
Chr5:32058059 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.2105C>T (p.Ser702Leu) single nucleotide variant not specified [RCV004505509] Chr5:32058008 [GRCh38]
Chr5:32058114 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.2119G>A (p.Asp707Asn) single nucleotide variant not specified [RCV004505511] Chr5:32058022 [GRCh38]
Chr5:32058128 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.2356G>A (p.Val786Ile) single nucleotide variant not specified [RCV004505512] Chr5:32061039 [GRCh38]
Chr5:32061145 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.2486G>A (p.Arg829His) single nucleotide variant not specified [RCV004505513] Chr5:32069603 [GRCh38]
Chr5:32069709 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.3505G>A (p.Ala1169Thr) single nucleotide variant not specified [RCV004505517] Chr5:32074611 [GRCh38]
Chr5:32074717 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.4073A>G (p.His1358Arg) single nucleotide variant not specified [RCV004505518] Chr5:32087521 [GRCh38]
Chr5:32087627 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.4385C>A (p.Ala1462Asp) single nucleotide variant not specified [RCV004505521] Chr5:32087833 [GRCh38]
Chr5:32087939 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.4723G>T (p.Asp1575Tyr) single nucleotide variant not specified [RCV004505523] Chr5:32088171 [GRCh38]
Chr5:32088277 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.4793A>G (p.Gln1598Arg) single nucleotide variant not specified [RCV004505524] Chr5:32088241 [GRCh38]
Chr5:32088347 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.5033C>T (p.Thr1678Ile) single nucleotide variant not specified [RCV004505525] Chr5:32088481 [GRCh38]
Chr5:32088587 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.5648C>T (p.Pro1883Leu) single nucleotide variant not specified [RCV004505528] Chr5:32089096 [GRCh38]
Chr5:32089202 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.8417A>G (p.Lys2806Arg) single nucleotide variant not specified [RCV004505553] Chr5:32108032 [GRCh38]
Chr5:32108138 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.83A>T (p.Asp28Val) single nucleotide variant not specified [RCV004505552] Chr5:31799331 [GRCh38]
Chr5:31799438 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.6739C>G (p.Arg2247Gly) single nucleotide variant not specified [RCV004659771] Chr5:32090187 [GRCh38]
Chr5:32090293 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.4571C>G (p.Ser1524Cys) single nucleotide variant not specified [RCV004659777] Chr5:32088019 [GRCh38]
Chr5:32088125 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.890C>T (p.Thr297Ile) single nucleotide variant not specified [RCV004659770] Chr5:31983568 [GRCh38]
Chr5:31983674 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.7796C>T (p.Ser2599Leu) single nucleotide variant not specified [RCV004659772] Chr5:32092975 [GRCh38]
Chr5:32093081 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.6119C>T (p.Ala2040Val) single nucleotide variant not specified [RCV004655619] Chr5:32089567 [GRCh38]
Chr5:32089673 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.1571G>A (p.Arg524Gln) single nucleotide variant not specified [RCV004655620] Chr5:32048590 [GRCh38]
Chr5:32048696 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.5161C>T (p.Pro1721Ser) single nucleotide variant not specified [RCV004655621] Chr5:32088609 [GRCh38]
Chr5:32088715 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.1361C>T (p.Ala454Val) single nucleotide variant not specified [RCV004655622] Chr5:32010436 [GRCh38]
Chr5:32010542 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.4566C>A (p.Asn1522Lys) single nucleotide variant not specified [RCV004655623] Chr5:32088014 [GRCh38]
Chr5:32088120 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.3245G>A (p.Ser1082Asn) single nucleotide variant not specified [RCV004655624] Chr5:32074351 [GRCh38]
Chr5:32074457 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.5684A>G (p.Lys1895Arg) single nucleotide variant not specified [RCV004655625] Chr5:32089132 [GRCh38]
Chr5:32089238 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.1214G>C (p.Arg405Pro) single nucleotide variant not specified [RCV004655626] Chr5:32000231 [GRCh38]
Chr5:32000337 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.5387G>C (p.Arg1796Thr) single nucleotide variant not specified [RCV004655627] Chr5:32088835 [GRCh38]
Chr5:32088941 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.5858C>T (p.Ser1953Phe) single nucleotide variant not specified [RCV004655632] Chr5:32089306 [GRCh38]
Chr5:32089412 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.6253G>C (p.Glu2085Gln) single nucleotide variant not specified [RCV004655634] Chr5:32089701 [GRCh38]
Chr5:32089807 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.5141T>C (p.Val1714Ala) single nucleotide variant not specified [RCV004655635] Chr5:32088589 [GRCh38]
Chr5:32088695 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.451G>A (p.Val151Ile) single nucleotide variant not specified [RCV004655636] Chr5:31799699 [GRCh38]
Chr5:31799806 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.280G>C (p.Gly94Arg) single nucleotide variant not specified [RCV004659773] Chr5:31799528 [GRCh38]
Chr5:31799635 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.6706G>A (p.Glu2236Lys) single nucleotide variant not specified [RCV004659774] Chr5:32090154 [GRCh38]
Chr5:32090260 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.2918A>G (p.Glu973Gly) single nucleotide variant not specified [RCV004659776] Chr5:32074024 [GRCh38]
Chr5:32074130 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.8146C>T (p.Arg2716Trp) single nucleotide variant not specified [RCV004655631] Chr5:32098562 [GRCh38]
Chr5:32098668 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.6248G>A (p.Arg2083His) single nucleotide variant not specified [RCV004659769] Chr5:32089696 [GRCh38]
Chr5:32089802 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.1595T>C (p.Met532Thr) single nucleotide variant not specified [RCV004659775] Chr5:32048614 [GRCh38]
Chr5:32048720 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.2932A>G (p.Arg978Gly) single nucleotide variant not specified [RCV004655628] Chr5:32074038 [GRCh38]
Chr5:32074144 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.5284G>A (p.Val1762Met) single nucleotide variant not specified [RCV004655630] Chr5:32088732 [GRCh38]
Chr5:32088838 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.2304G>T (p.Met768Ile) single nucleotide variant PDZD2-related disorder [RCV004739196] Chr5:32059342 [GRCh38]
Chr5:32059448 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.3598A>C (p.Ser1200Arg) single nucleotide variant PDZD2-related disorder [RCV004729763] Chr5:32077522 [GRCh38]
Chr5:32077628 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.6994T>C (p.Phe2332Leu) single nucleotide variant PDZD2-related disorder [RCV004730116] Chr5:32090442 [GRCh38]
Chr5:32090548 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.822G>T (p.Lys274Asn) single nucleotide variant PDZD2-related disorder [RCV004726219] Chr5:31983500 [GRCh38]
Chr5:31983606 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.812A>G (p.Asp271Gly) single nucleotide variant not specified [RCV004841885] Chr5:31983490 [GRCh38]
Chr5:31983596 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.7679C>T (p.Thr2560Met) single nucleotide variant not specified [RCV004841886] Chr5:32091127 [GRCh38]
Chr5:32091233 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.1510C>T (p.Arg504Cys) single nucleotide variant not specified [RCV004841888] Chr5:32037333 [GRCh38]
Chr5:32037439 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.4601G>A (p.Ser1534Asn) single nucleotide variant not specified [RCV004841894] Chr5:32088049 [GRCh38]
Chr5:32088155 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.8309C>T (p.Ser2770Leu) single nucleotide variant not specified [RCV004841897] Chr5:32101195 [GRCh38]
Chr5:32101301 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.5848G>A (p.Ala1950Thr) single nucleotide variant not specified [RCV004841901] Chr5:32089296 [GRCh38]
Chr5:32089402 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.8503C>T (p.His2835Tyr) single nucleotide variant not specified [RCV004841892] Chr5:32108118 [GRCh38]
Chr5:32108224 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.4638G>A (p.Pro1546=) single nucleotide variant not specified [RCV004841905] Chr5:32088086 [GRCh38]
Chr5:32088192 [GRCh37]
Chr5:5p13.3		 likely benign
NM_178140.4(PDZD2):c.6506C>G (p.Ser2169Cys) single nucleotide variant not specified [RCV004841877] Chr5:32089954 [GRCh38]
Chr5:32090060 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.947C>T (p.Thr316Met) single nucleotide variant not specified [RCV004841883] Chr5:31983625 [GRCh38]
Chr5:31983731 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.5990T>C (p.Met1997Thr) single nucleotide variant not specified [RCV004841884] Chr5:32089438 [GRCh38]
Chr5:32089544 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.8499A>C (p.Arg2833Ser) single nucleotide variant not specified [RCV004841895] Chr5:32108114 [GRCh38]
Chr5:32108220 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.3376C>G (p.Pro1126Ala) single nucleotide variant not specified [RCV004841898] Chr5:32074482 [GRCh38]
Chr5:32074588 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.5698G>T (p.Ala1900Ser) single nucleotide variant not specified [RCV004841899] Chr5:32089146 [GRCh38]
Chr5:32089252 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.337G>A (p.Val113Met) single nucleotide variant not specified [RCV004841907] Chr5:31799585 [GRCh38]
Chr5:31799692 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.5408A>G (p.Lys1803Arg) single nucleotide variant not specified [RCV004841873] Chr5:32088856 [GRCh38]
Chr5:32088962 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.3977C>T (p.Ala1326Val) single nucleotide variant not specified [RCV004841874] Chr5:32087425 [GRCh38]
Chr5:32087531 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.602C>T (p.Pro201Leu) single nucleotide variant not specified [RCV004841875] Chr5:31983280 [GRCh38]
Chr5:31983386 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.4411C>T (p.Arg1471Cys) single nucleotide variant not specified [RCV004841876] Chr5:32087859 [GRCh38]
Chr5:32087965 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.632A>G (p.Lys211Arg) single nucleotide variant not specified [RCV004841878] Chr5:31983310 [GRCh38]
Chr5:31983416 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.3293C>G (p.Pro1098Arg) single nucleotide variant not specified [RCV004841879] Chr5:32074399 [GRCh38]
Chr5:32074505 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.4768G>C (p.Asp1590His) single nucleotide variant not specified [RCV004841880] Chr5:32088216 [GRCh38]
Chr5:32088322 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.4263G>C (p.Glu1421Asp) single nucleotide variant not specified [RCV004841881] Chr5:32087711 [GRCh38]
Chr5:32087817 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.8360C>T (p.Ala2787Val) single nucleotide variant not specified [RCV004841882] Chr5:32107975 [GRCh38]
Chr5:32108081 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.6257G>A (p.Arg2086Lys) single nucleotide variant not specified [RCV004841887] Chr5:32089705 [GRCh38]
Chr5:32089811 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.7751C>T (p.Ala2584Val) single nucleotide variant not specified [RCV004841889] Chr5:32092930 [GRCh38]
Chr5:32093036 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.8494A>G (p.Ile2832Val) single nucleotide variant not specified [RCV004841890] Chr5:32108109 [GRCh38]
Chr5:32108215 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.6246T>A (p.Asp2082Glu) single nucleotide variant not specified [RCV004841891] Chr5:32089694 [GRCh38]
Chr5:32089800 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.5914C>G (p.Pro1972Ala) single nucleotide variant not specified [RCV004841893] Chr5:32089362 [GRCh38]
Chr5:32089468 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.2713C>T (p.Pro905Ser) single nucleotide variant not specified [RCV004841896] Chr5:32072305 [GRCh38]
Chr5:32072411 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.370C>A (p.Leu124Met) single nucleotide variant not specified [RCV004841900] Chr5:31799618 [GRCh38]
Chr5:31799725 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.992G>A (p.Arg331Gln) single nucleotide variant not specified [RCV004841902] Chr5:31995589 [GRCh38]
Chr5:31995695 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.8186C>G (p.Ser2729Cys) single nucleotide variant not specified [RCV004841903] Chr5:32098602 [GRCh38]
Chr5:32098708 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.6944C>T (p.Thr2315Ile) single nucleotide variant not specified [RCV004841904] Chr5:32090392 [GRCh38]
Chr5:32090498 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.1389C>A (p.Ser463Arg) single nucleotide variant not specified [RCV004841906] Chr5:32010464 [GRCh38]
Chr5:32010570 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.3713C>T (p.Ser1238Phe) single nucleotide variant not specified [RCV004841908] Chr5:32087161 [GRCh38]
Chr5:32087267 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.556A>T (p.Thr186Ser) single nucleotide variant not specified [RCV004841909] Chr5:31983234 [GRCh38]
Chr5:31983340 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.7454T>C (p.Leu2485Pro) single nucleotide variant not specified [RCV004841910] Chr5:32090902 [GRCh38]
Chr5:32091008 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.4477G>A (p.Ala1493Thr) single nucleotide variant not specified [RCV004841911] Chr5:32087925 [GRCh38]
Chr5:32088031 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.280G>A (p.Gly94Arg) single nucleotide variant not specified [RCV004848227] Chr5:31799528 [GRCh38]
Chr5:31799635 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.4337C>T (p.Thr1446Met) single nucleotide variant not specified [RCV004848228] Chr5:32087785 [GRCh38]
Chr5:32087891 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.5930C>T (p.Thr1977Met) single nucleotide variant not specified [RCV004848229] Chr5:32089378 [GRCh38]
Chr5:32089484 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.5071T>C (p.Ser1691Pro) single nucleotide variant not specified [RCV004848230] Chr5:32088519 [GRCh38]
Chr5:32088625 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.878G>T (p.Arg293Ile) single nucleotide variant not specified [RCV004848231] Chr5:31983556 [GRCh38]
Chr5:31983662 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.7421C>A (p.Pro2474His) single nucleotide variant not specified [RCV004848232] Chr5:32090869 [GRCh38]
Chr5:32090975 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.2654C>T (p.Ser885Phe) single nucleotide variant not specified [RCV004848233] Chr5:32072246 [GRCh38]
Chr5:32072352 [GRCh37]
Chr5:5p13.3		 uncertain significance
NM_178140.4(PDZD2):c.5457G>C (p.Glu1819Asp) single nucleotide variant not specified [RCV004335484] Chr5:32088905 [GRCh38]
Chr5:32089011 [GRCh37]
Chr5:5p13.3		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:4149
Count of miRNA genes:1241
Interacting mature miRNAs:1585
Transcripts:ENST00000282493, ENST00000397559, ENST00000438447, ENST00000502489, ENST00000502824, ENST00000503961, ENST00000509256, ENST00000510285, ENST00000513184, ENST00000513490, ENST00000513852, ENST00000513910, ENST00000515115
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597023764GWAS1119838_Hcolorectal cancer QTL GWAS1119838 (human)0.000002colorectal cancer53180424431804245Human
597322142GWAS1418216_Hcup-to-disc ratio measurement QTL GWAS1418216 (human)2e-40cup-to-disc ratio measurement53195194531951946Human
597105555GWAS1201629_Hreticulocyte measurement QTL GWAS1201629 (human)1e-09reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)53202469832024699Human
406909768GWAS558744_Hbipolar disorder, body mass index QTL GWAS558744 (human)0.000003bipolar disorder, body mass indexbody mass index (BMI) (CMO:0000105)53191713631917137Human
407153741GWAS802717_Hgut microbiome measurement QTL GWAS802717 (human)0.000004gut microbiome measurement53187760231877603Human
407044559GWAS693535_Hleptin measurement QTL GWAS693535 (human)0.000004leptin measurementblood leptin level (CMO:0000779)53192721131927212Human
597338903GWAS1434977_Hsevere acute respiratory syndrome, COVID-19 QTL GWAS1434977 (human)8e-25severe acute respiratory syndrome, COVID-1953182035831820359Human
597195157GWAS1291231_Hmemory performance QTL GWAS1291231 (human)0.000002memory performance53189461031894611Human
597293079GWAS1389153_Hblood titanium measurement QTL GWAS1389153 (human)0.000007blood titanium measurement53180615131806152Human
407049557GWAS698533_Hsuberic acid measurement QTL GWAS698533 (human)0.000001suberic acid measurement53197196331971964Human
597021453GWAS1117527_Heotaxin measurement QTL GWAS1117527 (human)0.000003eotaxin measurement53184641431846415Human
597038221GWAS1134295_Hgut microbiome measurement QTL GWAS1134295 (human)0.000004gut microbiome measurement53187760231877603Human
597325626GWAS1421700_Hcolor vision disorder QTL GWAS1421700 (human)0.000001color vision disorder53169749331697494Human
407159012GWAS807988_Hgut microbiome measurement QTL GWAS807988 (human)0.000002gut microbiome measurement53192426631924267Human
406960101GWAS609077_Hcup-to-disc ratio measurement QTL GWAS609077 (human)7e-09cup-to-disc ratio measurement53195194531951946Human
406960100GWAS609076_Hcup-to-disc ratio measurement QTL GWAS609076 (human)5e-09cup-to-disc ratio measurement53195194531951946Human
597605808GWAS1662668_HAbnormality of the immune system QTL GWAS1662668 (human)2e-13Abnormality of the immune system53179501531795016Human
597618991GWAS1675851_Hglaucoma QTL GWAS1675851 (human)2e-19glaucoma53196074031960741Human
597274669GWAS1370743_Hresponse to methotrexate, serum alanine aminotransferase measurement QTL GWAS1370743 (human)0.0000002response to methotrexate, serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)53189308031893081Human
597313196GWAS1409270_Hcortical thickness QTL GWAS1409270 (human)1e-12cortical thickness53191290031912901Human
407080564GWAS729540_Hshort-term memory QTL GWAS729540 (human)0.000009short-term memory53191052131910522Human
407052276GWAS701252_Hrenal cell carcinoma QTL GWAS701252 (human)0.0000008renal cell carcinoma53200037732000378Human
597100846GWAS1196920_HCOVID-19, mortality QTL GWAS1196920 (human)0.00001COVID-19, mortalityratio of deaths to total study population during a period of time (CMO:0001023)53165628331656284Human
597321763GWAS1417837_Hcup-to-disc ratio measurement QTL GWAS1417837 (human)2e-08cup-to-disc ratio measurement53196631131966312Human
597342887GWAS1438961_HAlzheimer disease QTL GWAS1438961 (human)0.000008Alzheimer disease53165666131656662Human
597335847GWAS1431921_Hsevere acute respiratory syndrome, COVID-19 QTL GWAS1431921 (human)5e-08severe acute respiratory syndrome, COVID-1953182189731821898Human
597038379GWAS1134453_Hgut microbiome measurement QTL GWAS1134453 (human)0.000007gut microbiome measurement53192426631924267Human
406917758GWAS566734_Hcup-to-disc ratio measurement QTL GWAS566734 (human)2e-21cup-to-disc ratio measurement53195194531951946Human
597143125GWAS1239199_Hsevere acute respiratory syndrome, COVID-19 QTL GWAS1239199 (human)0.000001severe acute respiratory syndrome, COVID-1953183015431830155Human
597039060GWAS1135134_Hgut microbiome measurement QTL GWAS1135134 (human)0.000006gut microbiome measurement53192426631924267Human
596951507GWAS1071026_Hresponse to selective serotonin reuptake inhibitor, major depressive disorder QTL GWAS1071026 (human)0.0000003response to selective serotonin reuptake inhibitor, major depressive disorder53176632631766327Human
597038289GWAS1134363_Hgut microbiome measurement QTL GWAS1134363 (human)0.000006gut microbiome measurement53209454832094549Human
597022044GWAS1118118_Hinterleukin 7 measurement QTL GWAS1118118 (human)0.000002interleukin 7 measurement53191901131919012Human
597072199GWAS1168273_Hchronic obstructive pulmonary disease QTL GWAS1168273 (human)2e-08lung integrity trait (VT:0010906)53191626531916266Human
597324366GWAS1420440_Hcup-to-disc ratio measurement QTL GWAS1420440 (human)2e-37cup-to-disc ratio measurement53195194531951946Human
407040532GWAS689508_Hunipolar depression, response to selective serotonin reuptake inhibitor QTL GWAS689508 (human)0.0000003unipolar depression, response to selective serotonin reuptake inhibitor53176632631766327Human
597084621GWAS1180695_Hresponse to ketamine QTL GWAS1180695 (human)0.000007response to ketamine53195717831957179Human
596983243GWAS1102762_Hmemory performance QTL GWAS1102762 (human)0.000002memory performance53189461031894611Human
406921887GWAS570863_Hcup-to-disc ratio measurement QTL GWAS570863 (human)1e-14cup-to-disc ratio measurement53195194531951946Human
597060040GWAS1156114_Hcup-to-disc ratio measurement QTL GWAS1156114 (human)7e-12cup-to-disc ratio measurement53195194531951946Human
597187783GWAS1283857_Hlinoleoyl-arachidonoyl-glycerol (18:2/20:4) [2] measurement QTL GWAS1283857 (human)5e-10linoleoyl-arachidonoyl-glycerol (18:2/20:4) [2] measurement53167411931674120Human
597109495GWAS1205569_Hchildhood onset asthma QTL GWAS1205569 (human)0.0000004childhood onset asthma53169662931696630Human
597131637GWAS1227711_Hcortical thickness QTL GWAS1227711 (human)6e-10cortical thickness53191290031912901Human
597460222GWAS1556296_Hage of onset of Parkinson disease QTL GWAS1556296 (human)0.000006age of onset of Parkinson disease53206726732067268Human
406968866GWAS617842_Hmyocardial infarction QTL GWAS617842 (human)3e-10myocardial infarction53207346032073461Human
597315197GWAS1411271_Hretinal vasculature measurement QTL GWAS1411271 (human)1e-08retina blood vessel morphology trait (VT:0002792)53186499331864994Human
597230832GWAS1326906_Hmortality QTL GWAS1326906 (human)0.000003mortalityratio of deaths to total study population during a period of time (CMO:0001023)53201743932017440Human
406988334GWAS637310_Hreticulocyte count QTL GWAS637310 (human)2e-09reticulocyte quantity (VT:0003135)total reticulocyte count (CMO:0003020)53204184732041848Human
597249908GWAS1345982_Hbody weight QTL GWAS1345982 (human)0.0000009body mass (VT:0001259)body weight (CMO:0000012)53191991331919914Human
597059579GWAS1155653_Hadolescent idiopathic scoliosis QTL GWAS1155653 (human)2e-11adolescent idiopathic scoliosis53198828331988284Human
407380518GWAS1029494_Hacute myeloid leukemia QTL GWAS1029494 (human)0.0000005leukocyte integrity trait (VT:0010898)53190955731909558Human
407380412GWAS1029388_Hacute myeloid leukemia QTL GWAS1029388 (human)7e-14leukocyte integrity trait (VT:0010898)53169045231690453Human
407380413GWAS1029389_Hacute myeloid leukemia QTL GWAS1029389 (human)1e-11leukocyte integrity trait (VT:0010898)53169045231690453Human
597276780GWAS1372854_Horal microbiome measurement QTL GWAS1372854 (human)0.0000009mouth morphology trait (VT:0000452)53210727532107276Human
597193441GWAS1289515_Hresponse to radiation, hearing loss, response to antineoplastic agent QTL GWAS1289515 (human)0.000002response to radiation, hearing loss, response to antineoplastic agent53196054131960542Human
597163115GWAS1259189_Hgut microbiome measurement QTL GWAS1259189 (human)4e-08gut microbiome measurement53193146031931461Human
406997180GWAS646156_Hreticulocyte measurement QTL GWAS646156 (human)3e-10reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)53200326432003265Human
597620961GWAS1677821_Hopen-angle glaucoma QTL GWAS1677821 (human)4e-19open-angle glaucoma53196074031960741Human
597135976GWAS1232050_H1-stearoyl-2-arachidonoyl-GPC (18:0/20:4) measurement QTL GWAS1232050 (human)0.000002glycerophosphocholine amount (VT:0011004)53203918032039181Human

Markers in Region
D6S1584  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37616,714,343 - 16,714,473UniSTSGRCh37
GRCh37532,090,219 - 32,090,536UniSTSGRCh37
Build 36532,125,976 - 32,126,293RGDNCBI36
Celera531,971,505 - 31,971,822RGD
Celera617,952,197 - 17,952,314UniSTS
Cytogenetic Map5p13.3UniSTS
HuRef532,057,353 - 32,057,670UniSTS
HuRef616,660,563 - 16,660,676UniSTS
Marshfield Genetic Map632.62RGD
Marshfield Genetic Map632.62UniSTS
Genethon Genetic Map632.4UniSTS
deCODE Assembly Map637.2UniSTS
D5S477  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37531,896,381 - 31,896,528UniSTSGRCh37
GRCh37531,896,399 - 31,896,577UniSTSGRCh37
Build 36531,932,138 - 31,932,285RGDNCBI36
Celera531,776,616 - 31,776,794UniSTS
Celera531,776,598 - 31,776,745RGD
Cytogenetic Map5p13.3UniSTS
HuRef531,863,324 - 31,863,471UniSTS
HuRef531,863,342 - 31,863,520UniSTS
Marshfield Genetic Map545.34UniSTS
Marshfield Genetic Map545.34RGD
Genethon Genetic Map544.6UniSTS
TNG Radiation Hybrid Map514677.0UniSTS
deCODE Assembly Map552.96UniSTS
Stanford-G3 RH Map51147.0UniSTS
GeneMap99-GB4 RH Map5116.0UniSTS
Whitehead-RH Map5124.6UniSTS
Whitehead-YAC Contig Map5 UniSTS
NCBI RH Map5184.2UniSTS
GeneMap99-G3 RH Map51193.0UniSTS
SHGC-149728  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37531,829,092 - 31,829,381UniSTSGRCh37
Build 36531,864,849 - 31,865,138RGDNCBI36
Celera531,709,326 - 31,709,615RGD
Cytogenetic Map5p13.3UniSTS
HuRef531,796,305 - 31,796,594UniSTS
TNG Radiation Hybrid Map514634.0UniSTS
SGC34914  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37532,100,178 - 32,100,327UniSTSGRCh37
Build 36532,135,935 - 32,136,084RGDNCBI36
Celera531,981,464 - 31,981,613RGD
Cytogenetic Map5p13.3UniSTS
HuRef532,067,312 - 32,067,461UniSTS
GeneMap99-GB4 RH Map5116.1UniSTS
Whitehead-RH Map5124.2UniSTS
NCBI RH Map5179.9UniSTS
RH65126  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37532,097,423 - 32,097,618UniSTSGRCh37
Build 36532,133,180 - 32,133,375RGDNCBI36
Celera531,978,709 - 31,978,904RGD
Cytogenetic Map5p13.3UniSTS
HuRef532,064,557 - 32,064,752UniSTS
GeneMap99-GB4 RH Map5116.0UniSTS
A004I48  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37532,109,807 - 32,110,064UniSTSGRCh37
Build 36532,145,564 - 32,145,821RGDNCBI36
Celera531,991,097 - 31,991,354RGD
Cytogenetic Map5p13.3UniSTS
HuRef532,076,938 - 32,077,195UniSTS
GeneMap99-GB4 RH Map5117.99UniSTS
STS-W61113  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37531,923,599 - 31,923,756UniSTSGRCh37
Build 36531,959,356 - 31,959,513RGDNCBI36
Celera531,804,217 - 31,804,374RGD
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map5p13.3UniSTS
HuRef531,890,812 - 31,890,969UniSTS
GeneMap99-GB4 RH Map5116.0UniSTS
D5S1884  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37531,854,414 - 31,854,566UniSTSGRCh37
Build 36531,890,171 - 31,890,323RGDNCBI36
Celera531,734,636 - 31,734,788RGD
Cytogenetic Map5p13.3UniSTS
HuRef531,821,355 - 31,821,507UniSTS
Whitehead-YAC Contig Map5 UniSTS
RH44721  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37531,992,821 - 31,992,956UniSTSGRCh37
Build 36532,028,578 - 32,028,713RGDNCBI36
Celera531,873,411 - 31,873,546RGD
Cytogenetic Map5p13.3UniSTS
HuRef531,960,021 - 31,960,156UniSTS
GeneMap99-GB4 RH Map5115.9UniSTS
SGC33738  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37531,992,822 - 31,992,970UniSTSGRCh37
Build 36532,028,579 - 32,028,727RGDNCBI36
Celera531,873,412 - 31,873,560RGD
Cytogenetic Map5p13.3UniSTS
HuRef531,960,022 - 31,960,170UniSTS
GeneMap99-GB4 RH Map5114.18UniSTS
Whitehead-RH Map5118.2UniSTS
NCBI RH Map5179.9UniSTS
G35319  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37532,058,203 - 32,058,358UniSTSGRCh37
Build 36532,093,960 - 32,094,115RGDNCBI36
Celera531,939,473 - 31,939,628RGD
Cytogenetic Map5p13.3UniSTS
HuRef532,025,325 - 32,025,480UniSTS
RH18387  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37532,110,755 - 32,110,972UniSTSGRCh37
Build 36532,146,512 - 32,146,729RGDNCBI36
Celera531,992,045 - 31,992,262RGD
Cytogenetic Map5p13.3UniSTS
HuRef532,077,886 - 32,078,103UniSTS
GeneMap99-GB4 RH Map5117.94UniSTS
RH46366  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37532,058,339 - 32,058,460UniSTSGRCh37
Build 36532,094,096 - 32,094,217RGDNCBI36
Celera531,939,609 - 31,939,730RGD
Cytogenetic Map5p13.3UniSTS
HuRef532,025,461 - 32,025,582UniSTS
GeneMap99-GB4 RH Map5116.0UniSTS
RH16274  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37532,100,189 - 32,100,359UniSTSGRCh37
Build 36532,135,946 - 32,136,116RGDNCBI36
Celera531,981,475 - 31,981,645RGD
Cytogenetic Map5p13.3UniSTS
HuRef532,067,323 - 32,067,493UniSTS
GeneMap99-GB4 RH Map5116.0UniSTS
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS
SHGC-67307  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map4q13.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map5q22.1UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p36.21UniSTS
TNG Radiation Hybrid Map41213.0UniSTS
D6S2768  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5p13.3UniSTS
D1S1361  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p21.1-p12.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map17q21UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
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Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
D5S477  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map5p13.3-p13.2UniSTS
TNG Radiation Hybrid Map514677.0UniSTS
Stanford-G3 RH Map51147.0UniSTS
GeneMap99-GB4 RH Map5116.0UniSTS
NCBI RH Map5184.2UniSTS
GeneMap99-G3 RH Map51193.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2390 2788 2244 4950 1719 2331 5 618 1901 461 2255 7206 6413 51 3726 849 1739 1601 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_178140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006714460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB002298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC025178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC025458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF338650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC057283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA503068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000397559
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl532,100,867 - 32,108,771 (+)Ensembl
Ensembl Acc Id: ENST00000438447   ⟹   ENSP00000402033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl531,639,131 - 32,110,932 (+)Ensembl
Ensembl Acc Id: ENST00000502489
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl531,854,937 - 32,077,955 (+)Ensembl
Ensembl Acc Id: ENST00000502824
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl531,692,887 - 31,843,975 (+)Ensembl
Ensembl Acc Id: ENST00000503961
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl532,077,460 - 32,083,615 (+)Ensembl
Ensembl Acc Id: ENST00000509256
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl532,052,494 - 32,057,949 (+)Ensembl
Ensembl Acc Id: ENST00000510285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl532,107,321 - 32,108,461 (+)Ensembl
Ensembl Acc Id: ENST00000513184
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl532,059,332 - 32,072,317 (+)Ensembl
Ensembl Acc Id: ENST00000513490
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl532,099,174 - 32,110,926 (+)Ensembl
Ensembl Acc Id: ENST00000513852
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl531,936,152 - 31,983,541 (+)Ensembl
Ensembl Acc Id: ENST00000513910   ⟹   ENSP00000424901
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl531,712,039 - 31,799,289 (+)Ensembl
Ensembl Acc Id: ENST00000515115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl532,098,597 - 32,108,365 (+)Ensembl
RefSeq Acc Id: NM_178140   ⟹   NP_835260
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38531,639,131 - 32,110,932 (+)NCBI
GRCh37531,639,345 - 32,111,038 (+)NCBI
Build 36531,834,788 - 32,146,795 (+)NCBI Archive
HuRef531,766,346 - 32,078,169 (+)ENTREZGENE
CHM1_1531,640,859 - 32,112,328 (+)NCBI
T2T-CHM13v2.0531,752,824 - 32,224,543 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005248269   ⟹   XP_005248326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38531,639,131 - 32,110,932 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006714460   ⟹   XP_006714523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38531,983,292 - 32,110,932 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011513992   ⟹   XP_011512294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38531,712,039 - 32,110,932 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011513993   ⟹   XP_011512295
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38531,712,039 - 32,110,932 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011513994   ⟹   XP_011512296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38531,712,039 - 32,110,932 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011513996   ⟹   XP_011512298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38531,712,039 - 32,110,932 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047416965   ⟹   XP_047272921
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38531,983,292 - 32,110,932 (+)NCBI
RefSeq Acc Id: XM_054352107   ⟹   XP_054208082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0531,825,106 - 32,224,543 (+)NCBI
RefSeq Acc Id: XM_054352108   ⟹   XP_054208083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0531,752,824 - 32,224,543 (+)NCBI
RefSeq Acc Id: XM_054352109   ⟹   XP_054208084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0531,825,106 - 32,224,543 (+)NCBI
RefSeq Acc Id: XM_054352110   ⟹   XP_054208085
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0531,825,105 - 32,224,543 (+)NCBI
RefSeq Acc Id: XM_054352111   ⟹   XP_054208086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0531,825,106 - 32,224,543 (+)NCBI
RefSeq Acc Id: XM_054352112   ⟹   XP_054208087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0532,096,907 - 32,224,543 (+)NCBI
RefSeq Acc Id: XM_054352113   ⟹   XP_054208088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0532,096,907 - 32,224,543 (+)NCBI
RefSeq Acc Id: NP_835260   ⟸   NM_178140
- UniProtKB: Q9BXD4 (UniProtKB/Swiss-Prot),   O15018 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005248326   ⟸   XM_005248269
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006714523   ⟸   XM_006714460
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011512294   ⟸   XM_011513992
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011512296   ⟸   XM_011513994
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011512298   ⟸   XM_011513996
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011512295   ⟸   XM_011513993
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000402033   ⟸   ENST00000438447
Ensembl Acc Id: ENSP00000424901   ⟸   ENST00000513910
RefSeq Acc Id: XP_047272921   ⟸   XM_047416965
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054208083   ⟸   XM_054352108
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054208085   ⟸   XM_054352110
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054208082   ⟸   XM_054352107
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054208086   ⟸   XM_054352111
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054208084   ⟸   XM_054352109
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054208087   ⟸   XM_054352112
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054208088   ⟸   XM_054352113
- Peptide Label: isoform X5
Protein Domains
PDZ

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O15018-F1-model_v2 AlphaFold O15018 1-1400 view protein structure
AF-O15018-F2-model_v2 AlphaFold O15018 201-1600 view protein structure
AF-O15018-F3-model_v2 AlphaFold O15018 401-1800 view protein structure
AF-O15018-F4-model_v2 AlphaFold O15018 601-2000 view protein structure
AF-O15018-F5-model_v2 AlphaFold O15018 801-2200 view protein structure
AF-O15018-F6-model_v2 AlphaFold O15018 1001-2400 view protein structure
AF-O15018-F7-model_v2 AlphaFold O15018 1201-2600 view protein structure
AF-O15018-F8-model_v2 AlphaFold O15018 1401-2800 view protein structure
AF-O15018-F9-model_v2 AlphaFold O15018 1601-2839 view protein structure

Promoters
RGD ID:6869314
Promoter ID:EPDNEW_H7822
Type:initiation region
Name:PDZD2_2
Description:PDZ domain containing 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7823  EPDNEW_H7824  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38531,639,333 - 31,639,393EPDNEW
RGD ID:6869316
Promoter ID:EPDNEW_H7823
Type:multiple initiation site
Name:PDZD2_1
Description:PDZ domain containing 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7822  EPDNEW_H7824  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38531,790,731 - 31,790,791EPDNEW
RGD ID:6812793
Promoter ID:HG_ACW:62816
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:PDZD2.BAPR07,   PDZD2.IAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36531,890,571 - 31,891,071 (+)MPROMDB
RGD ID:6869318
Promoter ID:EPDNEW_H7824
Type:multiple initiation site
Name:PDZD2_3
Description:PDZ domain containing 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7822  EPDNEW_H7823  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38532,107,349 - 32,107,409EPDNEW
RGD ID:6803292
Promoter ID:HG_KWN:49899
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:UC003JHN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36532,135,021 - 32,136,537 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18486 AgrOrtholog
COSMIC PDZD2 COSMIC
Ensembl Genes ENSG00000133401 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000438447 ENTREZGENE
  ENST00000438447.2 UniProtKB/Swiss-Prot
  ENST00000513910.1 UniProtKB/TrEMBL
Gene3D-CATH 2.30.42.10 UniProtKB/Swiss-Prot
GTEx ENSG00000133401 GTEx
HGNC ID HGNC:18486 ENTREZGENE
Human Proteome Map PDZD2 Human Proteome Map
InterPro PDZ UniProtKB/Swiss-Prot
  PDZ_sf UniProtKB/Swiss-Prot
KEGG Report hsa:23037 UniProtKB/Swiss-Prot
NCBI Gene 23037 ENTREZGENE
OMIM 610697 OMIM
PANTHER IL16-RELATED UniProtKB/Swiss-Prot
  PDZ DOMAIN-CONTAINING PROTEIN 2 UniProtKB/Swiss-Prot
Pfam PDZ UniProtKB/Swiss-Prot
PharmGKB PA33164 PharmGKB
PROSITE PDZ UniProtKB/Swiss-Prot
SMART PDZ UniProtKB/Swiss-Prot
Superfamily-SCOP SSF50156 UniProtKB/Swiss-Prot
UniProt D6RF66_HUMAN UniProtKB/TrEMBL
  L8E9S3_HUMAN UniProtKB/TrEMBL
  O15018 ENTREZGENE, UniProtKB/Swiss-Prot
  Q9BXD4 ENTREZGENE
UniProt Secondary Q9BXD4 UniProtKB/Swiss-Prot