NLGN1 (neuroligin 1) - Rat Genome Database

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Gene: NLGN1 (neuroligin 1) Homo sapiens
Analyze
Symbol: NLGN1
Name: neuroligin 1
RGD ID: 736453
HGNC Page HGNC:14291
Description: Enables PDZ domain binding activity and scaffold protein binding activity. Involved in several processes, including negative regulation of dendritic spine morphogenesis; positive regulation of dendritic spine development; and regulation of signal transduction. Acts upstream of or within positive regulation of synapse assembly. Located in plasma membrane. Implicated in autistic disorder.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: KIAA1070; MGC45115; neuroligin-1; NL1; NLG1
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
GRCh383173,395,952 - 174,294,372 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3173,396,284 - 174,294,372 (+)EnsemblGRCh38hg38GRCh38
GRCh373173,113,742 - 174,012,162 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363174,598,938 - 175,483,810 (+)NCBINCBI36Build 36hg18NCBI36
Build 343174,598,945 - 175,483,818NCBI
Celera3171,515,223 - 172,400,529 (+)NCBICelera
Cytogenetic Map3q26.31NCBI
HuRef3170,489,300 - 171,374,847 (+)NCBIHuRef
CHM1_13173,079,120 - 173,964,074 (+)NCBICHM1_1
T2T-CHM13v2.03176,181,719 - 177,081,314 (+)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
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
AMPA glutamate receptor clustering  (IEA,ISS)
calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules  (IEA,ISS,NAS)
cell adhesion  (IEA)
cellular response to calcium ion  (ISS)
cytoskeletal matrix organization at active zone  (IEA,ISS)
establishment of protein localization  (IEA,ISS)
excitatory synapse assembly  (IEA,ISS)
heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules  (IEA,ISS)
inhibitory postsynaptic potential  (ISO)
long-term synaptic potentiation  (ISO)
modulation of chemical synaptic transmission  (IEA,ISO,ISS)
negative regulation of dendritic spine morphogenesis  (IEA,IGI)
nervous system development  (IEA,IMP,ISS)
neurexin clustering involved in presynaptic membrane assembly  (IEA,ISS)
neuron cell-cell adhesion  (IEA,ISS,NAS,TAS)
neuron projection arborization  (ISS)
neuron projection development  (IDA,ISS)
neuron projection morphogenesis  (NAS)
neuronal signal transduction  (TAS)
NMDA glutamate receptor clustering  (ISS)
positive regulation of circadian sleep/wake cycle, wakefulness  (IEA,ISS)
positive regulation of dendritic spine development  (IEA,IGI,ISO,ISS)
positive regulation of excitatory postsynaptic potential  (IEA,IGI,ISS)
positive regulation of filopodium assembly  (ISS)
positive regulation of intracellular signal transduction  (ISS)
positive regulation of neuromuscular synaptic transmission  (NAS)
positive regulation of presynaptic active zone assembly  (ISO)
positive regulation of protein localization to synapse  (ISO)
positive regulation of ruffle assembly  (ISS)
positive regulation of synapse assembly  (IDA,IEA,ISS)
positive regulation of synaptic transmission, GABAergic  (ISS,NAS)
positive regulation of synaptic transmission, glutamatergic  (ISS,NAS)
positive regulation of synaptic vesicle clustering  (IEA)
positive regulation of synaptic vesicle endocytosis  (IEA,ISS)
positive regulation of synaptic vesicle exocytosis  (IEA,ISS)
postsynaptic density protein 95 clustering  (IEA,ISS)
postsynaptic membrane assembly  (IEA,ISS)
postsynaptic specialization assembly  (IEA)
presynapse assembly  (IEA,TAS)
presynaptic membrane assembly  (IEA,ISS)
protein localization to synapse  (IEA,ISS)
protein targeting  (ISS)
receptor localization to synapse  (IEA,ISS)
regulation of AMPA receptor activity  (ISS)
regulation of neuron differentiation  (IEA,ISS)
regulation of NMDA receptor activity  (IGI,ISS)
regulation of postsynaptic density assembly  (IEA)
regulation of presynapse organization  (ISO)
regulation of respiratory gaseous exchange by nervous system process  (IEA,ISO)
rhythmic process  (IEA)
synapse assembly  (IEA,ISO,ISS)
synapse organization  (IEA,ISO)
synaptic membrane adhesion  (IEA)
synaptic vesicle clustering  (IEA,ISS)
synaptic vesicle targeting  (IEA,ISS)
synaptic vesicle transport  (ISO)
terminal button organization  (IEA,ISS)

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. Altered synaptic properties during integration of adult-born hippocampal neurons following a seizure insult. Jackson J, etal., PLoS One. 2012;7(4):e35557. doi: 10.1371/journal.pone.0035557. Epub 2012 Apr 23.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. Transcellular neuroligin-2 interactions enhance insulin secretion and are integral to pancreatic beta cell function. Suckow AT, etal., J Biol Chem. 2012 Jun 8;287(24):19816-26. doi: 10.1074/jbc.M111.280537. Epub 2012 Apr 23.
Additional References at PubMed
PMID:7736595   PMID:8576240   PMID:9278515   PMID:10470851   PMID:10819331   PMID:10892652   PMID:10996085   PMID:12477932   PMID:12796785   PMID:14522992   PMID:14702039   PMID:15489334  
PMID:15551338   PMID:15797875   PMID:16077734   PMID:16242404   PMID:16344560   PMID:16641997   PMID:16846852   PMID:16882988   PMID:17474715   PMID:17582332   PMID:18084303   PMID:18987618  
PMID:19086053   PMID:19598235   PMID:19730411   PMID:19736351   PMID:20034102   PMID:20201926   PMID:20379614   PMID:20398908   PMID:20516156   PMID:20677014   PMID:21838267   PMID:21873635  
PMID:22106001   PMID:22750515   PMID:23143522   PMID:23264101   PMID:23719805   PMID:23853109   PMID:23929743   PMID:24024966   PMID:24613359   PMID:25399301   PMID:25428619   PMID:26078884  
PMID:26109803   PMID:26440732   PMID:26674772   PMID:27219346   PMID:28194405   PMID:28514442   PMID:28841651   PMID:29504935   PMID:30460678   PMID:30561431   PMID:30864948   PMID:31665629  
PMID:31801062   PMID:33522967   PMID:33961781   PMID:34079125   PMID:34340665   PMID:35562616   PMID:36056393   PMID:37544204  


Genomics

Comparative Map Data
NLGN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383173,395,952 - 174,294,372 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3173,396,284 - 174,294,372 (+)EnsemblGRCh38hg38GRCh38
GRCh373173,113,742 - 174,012,162 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363174,598,938 - 175,483,810 (+)NCBINCBI36Build 36hg18NCBI36
Build 343174,598,945 - 175,483,818NCBI
Celera3171,515,223 - 172,400,529 (+)NCBICelera
Cytogenetic Map3q26.31NCBI
HuRef3170,489,300 - 171,374,847 (+)NCBIHuRef
CHM1_13173,079,120 - 173,964,074 (+)NCBICHM1_1
T2T-CHM13v2.03176,181,719 - 177,081,314 (+)NCBIT2T-CHM13v2.0
Nlgn1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39325,475,972 - 26,387,504 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl325,480,379 - 26,386,609 (-)EnsemblGRCm39 Ensembl
GRCm38325,421,808 - 26,332,866 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl325,426,215 - 26,332,460 (-)EnsemblGRCm38mm10GRCm38
MGSCv37325,330,763 - 26,230,831 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36325,622,914 - 26,522,982 (-)NCBIMGSCv36mm8
Celera325,414,194 - 26,317,921 (-)NCBICelera
Cytogenetic Map3A3NCBI
cM Map310.38NCBI
Nlgn1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82110,184,987 - 111,110,316 (-)NCBIGRCr8
mRatBN7.22108,256,236 - 109,181,530 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2108,257,824 - 109,002,464 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2114,911,902 - 115,636,061 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02113,024,456 - 113,748,622 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02107,789,905 - 108,510,927 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02111,057,291 - 111,973,681 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2111,057,291 - 111,793,326 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02130,770,580 - 131,688,440 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42111,189,470 - 111,948,145 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12111,133,661 - 111,893,471 (-)NCBI
Celera2103,515,760 - 104,229,754 (-)NCBICelera
Cytogenetic Map2q24NCBI
Nlgn1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554203,549,021 - 4,167,493 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554203,360,745 - 4,171,587 (+)NCBIChiLan1.0ChiLan1.0
NLGN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22171,247,516 - 172,162,746 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13171,252,234 - 172,164,121 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03170,416,885 - 171,333,094 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13178,595,014 - 179,505,810 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3178,810,253 - 179,503,756 (+)Ensemblpanpan1.1panPan2
NLGN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13437,397,772 - 38,203,634 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3437,572,629 - 38,203,177 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3446,409,660 - 47,225,945 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03437,484,369 - 38,313,800 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3437,659,077 - 38,308,775 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13437,576,956 - 38,230,342 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03437,390,518 - 38,201,245 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03437,647,698 - 38,463,980 (+)NCBIUU_Cfam_GSD_1.0
Nlgn1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602104,390,734 - 105,051,988 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936703758,647 - 1,414,185 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936703951,935 - 1,415,991 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NLGN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13112,035,854 - 112,725,618 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113111,851,007 - 112,727,202 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213120,802,484 - 121,025,494 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NLGN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11515,129,976 - 16,017,107 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366606323,867,631 - 24,767,924 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nlgn1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473051,650,815 - 52,295,023 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473051,451,546 - 52,300,413 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NLGN1
122 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3 copy number gain See cases [RCV000051724] Chr3:147442566..178522531 [GRCh38]
Chr3:147160353..178240319 [GRCh37]
Chr3:148643043..179723013 [NCBI36]
Chr3:3q24-26.32
pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29
pathogenic
NM_014932.3(NLGN1):c.-321+76754C>A single nucleotide variant Lung cancer [RCV000093285] Chr3:173511832 [GRCh38]
Chr3:173229622 [GRCh37]
Chr3:3q26.31
uncertain significance
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29
pathogenic
GRCh38/hg38 3q26.31-26.32(chr3:174229765-176307536)x1 copy number loss See cases [RCV000054000] Chr3:174229765..176307536 [GRCh38]
Chr3:173947555..176025324 [GRCh37]
Chr3:175430249..177508018 [NCBI36]
Chr3:3q26.31-26.32
uncertain significance
NM_014932.3(NLGN1):c.480C>T (p.Val160=) single nucleotide variant Malignant melanoma [RCV000060772] Chr3:173605078 [GRCh38]
Chr3:173322868 [GRCh37]
Chr3:174805562 [NCBI36]
Chr3:3q26.31
not provided
NM_014932.3(NLGN1):c.-390+17580C>T single nucleotide variant Lung cancer [RCV000093282] Chr3:173416067 [GRCh38]
Chr3:173133857 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_014932.3(NLGN1):c.-321+35723G>C single nucleotide variant Lung cancer [RCV000093283] Chr3:173470801 [GRCh38]
Chr3:173188591 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_014932.3(NLGN1):c.-321+60973C>G single nucleotide variant Lung cancer [RCV000093284] Chr3:173496051 [GRCh38]
Chr3:173213841 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_014932.3(NLGN1):c.-321+83003C>T single nucleotide variant Lung cancer [RCV000093286] Chr3:173518081 [GRCh38]
Chr3:173235871 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_014932.3(NLGN1):c.-320-5894A>G single nucleotide variant Lung cancer [RCV000093288] Chr3:173598385 [GRCh38]
Chr3:173316175 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_014932.3(NLGN1):c.493+67316A>G single nucleotide variant Lung cancer [RCV000093289] Chr3:173672407 [GRCh38]
Chr3:173390197 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_014932.3(NLGN1):c.493+95850C>T single nucleotide variant Lung cancer [RCV000093290] Chr3:173700941 [GRCh38]
Chr3:173418731 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_014932.3(NLGN1):c.494-65167T>G single nucleotide variant Lung cancer [RCV000093291] Chr3:173742513 [GRCh38]
Chr3:173460303 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_014932.3(NLGN1):c.494-48689A>T single nucleotide variant Lung cancer [RCV000093292] Chr3:173758991 [GRCh38]
Chr3:173476781 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_014932.3(NLGN1):c.646+68110G>C single nucleotide variant Lung cancer [RCV000093293] Chr3:173875942 [GRCh38]
Chr3:173593732 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_014932.3(NLGN1):c.646+143732G>C single nucleotide variant Lung cancer [RCV000093294] Chr3:173951564 [GRCh38]
Chr3:173669354 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_014932.3(NLGN1):c.647-224205A>T single nucleotide variant Lung cancer [RCV000093295] Chr3:174051110 [GRCh38]
Chr3:173768900 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_014932.3(NLGN1):c.647-170501T>A single nucleotide variant Lung cancer [RCV000093296] Chr3:174104814 [GRCh38]
Chr3:173822604 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.705C>T (p.Leu235=) single nucleotide variant not specified [RCV000203186] Chr3:173807831 [GRCh38]
Chr3:173525621 [GRCh37]
Chr3:3q26.31
likely benign
NM_014932.3(NLGN1):c.-320-36082T>C single nucleotide variant Lung cancer [RCV000093287] Chr3:173568197 [GRCh38]
Chr3:173285987 [GRCh37]
Chr3:3q26.31
uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q26.31(chr3:174229965-174748860)x3 copy number gain See cases [RCV000135925] Chr3:174229965..174748860 [GRCh38]
Chr3:173947755..174466650 [GRCh37]
Chr3:175430449..175949344 [NCBI36]
Chr3:3q26.31
uncertain significance
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 copy number gain See cases [RCV000137106] Chr3:168167568..198110178 [GRCh38]
Chr3:167885356..197837049 [GRCh37]
Chr3:169368050..199321446 [NCBI36]
Chr3:3q26.2-29
pathogenic
GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3 copy number gain See cases [RCV000139359] Chr3:165158611..180130168 [GRCh38]
Chr3:164876399..179847956 [GRCh37]
Chr3:166359093..181330650 [NCBI36]
Chr3:3q26.1-26.33
pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3 copy number gain See cases [RCV000142107] Chr3:167717962..188365272 [GRCh38]
Chr3:167435750..188083060 [GRCh37]
Chr3:168918444..189565754 [NCBI36]
Chr3:3q26.1-28
likely pathogenic
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29
pathogenic
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)x3 copy number gain See cases [RCV000446611] Chr3:157128738..181637333 [GRCh37]
Chr3:3q25.32-26.33
pathogenic
GRCh37/hg19 3q26.31(chr3:173435227-174228627)x3 copy number gain See cases [RCV000511216] Chr3:173435227..174228627 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.2403T>C (p.Ile801=) single nucleotide variant not provided [RCV000903686] Chr3:174281174 [GRCh38]
Chr3:173998964 [GRCh37]
Chr3:3q26.31
benign
NM_001365925.2(NLGN1):c.202G>C (p.Glu68Gln) single nucleotide variant Inborn genetic diseases [RCV003266994] Chr3:173604800 [GRCh38]
Chr3:173322590 [GRCh37]
Chr3:3q26.31
likely benign
NM_001365925.2(NLGN1):c.2219A>G (p.Asn740Ser) single nucleotide variant Inborn genetic diseases [RCV003247831] Chr3:174280990 [GRCh38]
Chr3:173998780 [GRCh37]
Chr3:3q26.31
uncertain significance
GRCh37/hg19 3q26.31(chr3:173068109-173172094)x3 copy number gain not provided [RCV000848521] Chr3:173068109..173172094 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.1509G>T (p.Thr503=) single nucleotide variant not provided [RCV000929626] Chr3:174279450 [GRCh38]
Chr3:173997240 [GRCh37]
Chr3:3q26.31
likely benign
NM_001365925.2(NLGN1):c.1422G>A (p.Lys474=) single nucleotide variant NLGN1-related disorder [RCV003975875]|not provided [RCV001659610] Chr3:174279363 [GRCh38]
Chr3:173997153 [GRCh37]
Chr3:3q26.31
benign
NM_001365925.2(NLGN1):c.266C>T (p.Pro89Leu) single nucleotide variant Autism, susceptibility to, 20 [RCV001093627] Chr3:173604864 [GRCh38]
Chr3:173322654 [GRCh37]
Chr3:3q26.31
risk factor
NM_001365925.2(NLGN1):c.866T>C (p.Leu289Pro) single nucleotide variant Autism, susceptibility to, 20 [RCV001093628] Chr3:174275474 [GRCh38]
Chr3:173993264 [GRCh37]
Chr3:3q26.31
risk factor
NM_001365925.2(NLGN1):c.950G>A (p.Gly317Glu) single nucleotide variant Autism, susceptibility to, 20 [RCV001093629] Chr3:174278891 [GRCh38]
Chr3:173996681 [GRCh37]
Chr3:3q26.31
risk factor
NM_001365925.2(NLGN1):c.74T>A (p.Leu25Ter) single nucleotide variant not provided [RCV001093630] Chr3:173604672 [GRCh38]
Chr3:173322462 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.2532G>A (p.Ter844=) single nucleotide variant Autism, susceptibility to, 20 [RCV004799426] Chr3:174281303 [GRCh38]
Chr3:173999093 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.262C>T (p.Pro88Ser) single nucleotide variant not provided [RCV001814809] Chr3:173604860 [GRCh38]
Chr3:173322650 [GRCh37]
Chr3:3q26.31
uncertain significance
GRCh37/hg19 3q26.2-26.33(chr3:168118411-179867071)x3 copy number gain not provided [RCV001827868] Chr3:168118411..179867071 [GRCh37]
Chr3:3q26.2-26.33
likely pathogenic
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333) copy number gain not specified [RCV002053382] Chr3:157128738..181637333 [GRCh37]
Chr3:3q25.32-26.33
pathogenic
GRCh37/hg19 3q26.31(chr3:173021800-173984110) copy number loss not specified [RCV002053387] Chr3:173021800..173984110 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.2080A>G (p.Thr694Ala) single nucleotide variant not provided [RCV001937531] Chr3:174280851 [GRCh38]
Chr3:173998641 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.2444A>G (p.His815Arg) single nucleotide variant Inborn genetic diseases [RCV002776827] Chr3:174281215 [GRCh38]
Chr3:173999005 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.1265G>A (p.Ser422Asn) single nucleotide variant Inborn genetic diseases [RCV002976754] Chr3:174279206 [GRCh38]
Chr3:173996996 [GRCh37]
Chr3:3q26.31
likely benign
NM_001365925.2(NLGN1):c.2272A>G (p.Thr758Ala) single nucleotide variant Inborn genetic diseases [RCV002660701] Chr3:174281043 [GRCh38]
Chr3:173998833 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.559C>T (p.Arg187Trp) single nucleotide variant Inborn genetic diseases [RCV002757112] Chr3:173807685 [GRCh38]
Chr3:173525475 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.278G>A (p.Arg93His) single nucleotide variant Inborn genetic diseases [RCV002645431] Chr3:173604876 [GRCh38]
Chr3:173322666 [GRCh37]
Chr3:3q26.31
likely benign
NM_001365925.2(NLGN1):c.209A>G (p.Asn70Ser) single nucleotide variant Inborn genetic diseases [RCV002931771] Chr3:173604807 [GRCh38]
Chr3:173322597 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.2480C>T (p.Thr827Ile) single nucleotide variant Inborn genetic diseases [RCV002717985] Chr3:174281251 [GRCh38]
Chr3:173999041 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.1657G>A (p.Val553Met) single nucleotide variant Inborn genetic diseases [RCV002897963] Chr3:174279598 [GRCh38]
Chr3:173997388 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.763A>T (p.Ile255Leu) single nucleotide variant Inborn genetic diseases [RCV002898509] Chr3:174275371 [GRCh38]
Chr3:173993161 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.1727T>A (p.Val576Asp) single nucleotide variant Inborn genetic diseases [RCV003008553] Chr3:174280498 [GRCh38]
Chr3:173998288 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.221T>G (p.Leu74Trp) single nucleotide variant Inborn genetic diseases [RCV002836036] Chr3:173604819 [GRCh38]
Chr3:173322609 [GRCh37]
Chr3:3q26.31
uncertain significance
GRCh37/hg19 3q26.31(chr3:173646950-174003055)x3 copy number gain not provided [RCV003484150] Chr3:173646950..174003055 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.19A>G (p.Thr7Ala) single nucleotide variant not provided [RCV003488147] Chr3:173604617 [GRCh38]
Chr3:173322407 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.835G>T (p.Gly279Ter) single nucleotide variant NLGN1-related disorder [RCV003410501] Chr3:174275443 [GRCh38]
Chr3:173993233 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.706G>A (p.Gly236Ser) single nucleotide variant not provided [RCV003434795] Chr3:173807832 [GRCh38]
Chr3:173525622 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.2207G>T (p.Arg736Leu) single nucleotide variant not provided [RCV003488145] Chr3:174280978 [GRCh38]
Chr3:173998768 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.2024A>G (p.Gln675Arg) single nucleotide variant not provided [RCV003488146] Chr3:174280795 [GRCh38]
Chr3:173998585 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.989C>A (p.Ala330Glu) single nucleotide variant NLGN1-related disorder [RCV003897065] Chr3:174278930 [GRCh38]
Chr3:173996720 [GRCh37]
Chr3:3q26.31
likely benign
NM_001365925.2(NLGN1):c.554-7382C>T single nucleotide variant NLGN1-related disorder [RCV003907290] Chr3:173800298 [GRCh38]
Chr3:173518088 [GRCh37]
Chr3:3q26.31
likely benign
NM_001365925.2(NLGN1):c.2394C>T (p.Pro798=) single nucleotide variant NLGN1-related disorder [RCV003973912] Chr3:174281165 [GRCh38]
Chr3:173998955 [GRCh37]
Chr3:3q26.31
benign
NM_001365925.2(NLGN1):c.1709+7A>G single nucleotide variant NLGN1-related disorder [RCV003964523] Chr3:174279657 [GRCh38]
Chr3:173997447 [GRCh37]
Chr3:3q26.31
likely benign
NM_001365925.2(NLGN1):c.483G>A (p.Pro161=) single nucleotide variant NLGN1-related disorder [RCV003964573] Chr3:173605081 [GRCh38]
Chr3:173322871 [GRCh37]
Chr3:3q26.31
likely benign
NM_001365925.2(NLGN1):c.348G>A (p.Val116=) single nucleotide variant NLGN1-related disorder [RCV003974258] Chr3:173604946 [GRCh38]
Chr3:173322736 [GRCh37]
Chr3:3q26.31
benign
NM_001365925.2(NLGN1):c.1047G>A (p.Glu349=) single nucleotide variant NLGN1-related disorder [RCV003964506] Chr3:174278988 [GRCh38]
Chr3:173996778 [GRCh37]
Chr3:3q26.31
likely benign
NM_001365925.2(NLGN1):c.1702A>G (p.Lys568Glu) single nucleotide variant NLGN1-related disorder [RCV003899583] Chr3:174279643 [GRCh38]
Chr3:173997433 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.1479G>A (p.Ala493=) single nucleotide variant Inborn genetic diseases [RCV004493311] Chr3:174279420 [GRCh38]
Chr3:173997210 [GRCh37]
Chr3:3q26.31
likely benign
NM_001365925.2(NLGN1):c.2497C>T (p.Pro833Ser) single nucleotide variant Inborn genetic diseases [RCV004493318] Chr3:174281268 [GRCh38]
Chr3:173999058 [GRCh37]
Chr3:3q26.31
likely benign
NM_001365925.2(NLGN1):c.211A>T (p.Asn71Tyr) single nucleotide variant Inborn genetic diseases [RCV004647278] Chr3:173604809 [GRCh38]
Chr3:173322599 [GRCh37]
Chr3:3q26.31
uncertain significance
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 copy number gain See cases [RCV000143694] Chr3:166137209..198125115 [GRCh38]
Chr3:165854997..197851986 [GRCh37]
Chr3:167337691..199336383 [NCBI36]
Chr3:3q26.1-29
pathogenic
NM_014932.4(NLGN1):c.-320-82616_-320-21032dup duplication Preeclampsia [RCV000161325] Chr3:173521663..173583247 [GRCh38]
Chr3:173239453..173301037 [GRCh37]
Chr3:3q26.31
not provided
NM_014932.4(NLGN1):c.-320-82616_-320-12230dup duplication Large for gestational age [RCV000161326] Chr3:173521663..173592049 [GRCh38]
Chr3:173239453..173309839 [GRCh37]
Chr3:3q26.31
not provided
GRCh37/hg19 3q26.31(chr3:173239453-173289281)x3 copy number gain Premature ovarian failure [RCV000225199] Chr3:173239453..173289281 [GRCh37]
Chr3:3q26.31
benign
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 copy number gain See cases [RCV000447464] Chr3:158980631..197766890 [GRCh37]
Chr3:3q25.32-29
pathogenic
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q26.31(chr3:173179298-173309839)x3 copy number gain not provided [RCV000742965] Chr3:173179298..173309839 [GRCh37]
Chr3:3q26.31
benign
GRCh37/hg19 3q26.31(chr3:173206036-173214745)x1 copy number loss not provided [RCV000742966] Chr3:173206036..173214745 [GRCh37]
Chr3:3q26.31
benign
GRCh37/hg19 3q26.31(chr3:173213243-173299666)x3 copy number gain not provided [RCV000742967] Chr3:173213243..173299666 [GRCh37]
Chr3:3q26.31
benign
GRCh37/hg19 3q26.31-29(chr3:173281266-197838262)x3 copy number gain not provided [RCV000742968] Chr3:173281266..197838262 [GRCh37]
Chr3:3q26.31-29
pathogenic
GRCh37/hg19 3q26.31(chr3:173556777-173954115)x3 copy number gain not provided [RCV000742969] Chr3:173556777..173954115 [GRCh37]
Chr3:3q26.31
benign
NM_001365925.2(NLGN1):c.591G>A (p.Val197=) single nucleotide variant not provided [RCV000971500] Chr3:173807717 [GRCh38]
Chr3:173525507 [GRCh37]
Chr3:3q26.31
benign
NM_001365925.2(NLGN1):c.1368T>C (p.Ile456=) single nucleotide variant not provided [RCV000896596] Chr3:174279309 [GRCh38]
Chr3:173997099 [GRCh37]
Chr3:3q26.31
benign
NM_001365925.2(NLGN1):c.2070G>A (p.Arg690=) single nucleotide variant not provided [RCV000891862] Chr3:174280841 [GRCh38]
Chr3:173998631 [GRCh37]
Chr3:3q26.31
benign
GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3 copy number gain not provided [RCV001005487] Chr3:169617690..190593854 [GRCh37]
Chr3:3q26.2-28
pathogenic
GRCh37/hg19 3q26.31(chr3:172095903-173254604)x3 copy number gain not provided [RCV000847729] Chr3:172095903..173254604 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.493+5G>A single nucleotide variant Autism, susceptibility to, 20 [RCV004784938] Chr3:173605096 [GRCh38]
Chr3:173322886 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.259G>T (p.Ala87Ser) single nucleotide variant Inborn genetic diseases [RCV003240633] Chr3:173604857 [GRCh38]
Chr3:173322647 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.1002A>G (p.Arg334=) single nucleotide variant NLGN1-related disorder [RCV003910544]|not provided [RCV000889465] Chr3:174278943 [GRCh38]
Chr3:173996733 [GRCh37]
Chr3:3q26.31
benign
GRCh37/hg19 3q26.31(chr3:173162477-173625339)x3 copy number gain not provided [RCV002473564] Chr3:173162477..173625339 [GRCh37]
Chr3:3q26.31
uncertain significance
GRCh37/hg19 3q26.31(chr3:173920001-174512669)x3 copy number gain not provided [RCV002473649] Chr3:173920001..174512669 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.295G>C (p.Glu99Gln) single nucleotide variant Inborn genetic diseases [RCV003241793] Chr3:173604893 [GRCh38]
Chr3:173322683 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.554-7372_554-7369del deletion See cases [RCV003128477] Chr3:173800307..173800310 [GRCh38]
Chr3:173518097..173518100 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.298C>T (p.Pro100Ser) single nucleotide variant See cases [RCV002252601] Chr3:173604896 [GRCh38]
Chr3:173322686 [GRCh37]
Chr3:3q26.31
uncertain significance
GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3 copy number gain Isolated anorectal malformation [RCV002286610] Chr3:171558472..197871052 [GRCh37]
Chr3:3q26.31-29
likely pathogenic
NM_001365925.2(NLGN1):c.1253A>G (p.Asn418Ser) single nucleotide variant Inborn genetic diseases [RCV003262699] Chr3:174279194 [GRCh38]
Chr3:173996984 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.71G>A (p.Gly24Glu) single nucleotide variant Inborn genetic diseases [RCV002901588] Chr3:173604669 [GRCh38]
Chr3:173322459 [GRCh37]
Chr3:3q26.31
uncertain significance
GRCh37/hg19 3q26.31(chr3:173318110-173786367)x1 copy number loss not provided [RCV002475656] Chr3:173318110..173786367 [GRCh37]
Chr3:3q26.31
uncertain significance
GRCh37/hg19 3q26.31(chr3:173833985-174087357)x3 copy number gain not provided [RCV002475534] Chr3:173833985..174087357 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.53C>A (p.Ala18Glu) single nucleotide variant Inborn genetic diseases [RCV002891476] Chr3:173604651 [GRCh38]
Chr3:173322441 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.973G>A (p.Val325Ile) single nucleotide variant Inborn genetic diseases [RCV002664479]|NLGN1-related disorder [RCV003410146] Chr3:174278914 [GRCh38]
Chr3:173996704 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.1261G>T (p.Asp421Tyr) single nucleotide variant Inborn genetic diseases [RCV002763092] Chr3:174279202 [GRCh38]
Chr3:173996992 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.2032C>G (p.Pro678Ala) single nucleotide variant Inborn genetic diseases [RCV002712618] Chr3:174280803 [GRCh38]
Chr3:173998593 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.595A>G (p.Ile199Val) single nucleotide variant Inborn genetic diseases [RCV002747269] Chr3:173807721 [GRCh38]
Chr3:173525511 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.2206C>T (p.Arg736Cys) single nucleotide variant Inborn genetic diseases [RCV003282117] Chr3:174280977 [GRCh38]
Chr3:173998767 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.82C>G (p.Pro28Ala) single nucleotide variant Inborn genetic diseases [RCV003180542] Chr3:173604680 [GRCh38]
Chr3:173322470 [GRCh37]
Chr3:3q26.31
likely benign
NM_001365925.2(NLGN1):c.443A>G (p.Asp148Gly) single nucleotide variant Inborn genetic diseases [RCV003213126] Chr3:173605041 [GRCh38]
Chr3:173322831 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.1028A>G (p.Asn343Ser) single nucleotide variant Inborn genetic diseases [RCV003357253] Chr3:174278969 [GRCh38]
Chr3:173996759 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.307C>T (p.Pro103Ser) single nucleotide variant Inborn genetic diseases [RCV003378414] Chr3:173604905 [GRCh38]
Chr3:173322695 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.1333T>C (p.Tyr445His) single nucleotide variant Inborn genetic diseases [RCV003363878] Chr3:174279274 [GRCh38]
Chr3:173997064 [GRCh37]
Chr3:3q26.31
likely benign
GRCh37/hg19 3q26.31(chr3:171835889-173764343)x3 copy number gain not provided [RCV003484149] Chr3:171835889..173764343 [GRCh37]
Chr3:3q26.31
uncertain significance
GRCh37/hg19 3q26.31(chr3:173965578-174305946)x3 copy number gain not provided [RCV003484151] Chr3:173965578..174305946 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.2524A>G (p.Arg842Gly) single nucleotide variant not provided [RCV003434796] Chr3:174281295 [GRCh38]
Chr3:173999085 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.2428G>A (p.Gly810Arg) single nucleotide variant NLGN1-related disorder [RCV003400207] Chr3:174281199 [GRCh38]
Chr3:173998989 [GRCh37]
Chr3:3q26.31
uncertain significance
Single allele duplication not provided [RCV003448680] Chr3:140154329..197847235 [GRCh37]
Chr3:3q23-29
pathogenic
GRCh37/hg19 3q26.31(chr3:172382427-173592368)x3 copy number gain not specified [RCV003986435] Chr3:172382427..173592368 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.1879T>G (p.Leu627Val) single nucleotide variant not provided [RCV003542527] Chr3:174280650 [GRCh38]
Chr3:173998440 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.1095A>C (p.Gln365His) single nucleotide variant Inborn genetic diseases [RCV004493310] Chr3:174279036 [GRCh38]
Chr3:173996826 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.1528C>T (p.His510Tyr) single nucleotide variant Inborn genetic diseases [RCV004493312] Chr3:174279469 [GRCh38]
Chr3:173997259 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.1529A>T (p.His510Leu) single nucleotide variant Inborn genetic diseases [RCV004493313] Chr3:174279470 [GRCh38]
Chr3:173997260 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.1833A>T (p.Lys611Asn) single nucleotide variant Inborn genetic diseases [RCV004493314] Chr3:174280604 [GRCh38]
Chr3:173998394 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.2251A>G (p.Met751Val) single nucleotide variant Inborn genetic diseases [RCV004493316] Chr3:174281022 [GRCh38]
Chr3:173998812 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.2329G>A (p.Ala777Thr) single nucleotide variant Inborn genetic diseases [RCV004493317] Chr3:174281100 [GRCh38]
Chr3:173998890 [GRCh37]
Chr3:3q26.31
likely benign
NM_001365925.2(NLGN1):c.688T>A (p.Tyr230Asn) single nucleotide variant Inborn genetic diseases [RCV004493320] Chr3:173807814 [GRCh38]
Chr3:173525604 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.899G>A (p.Arg300His) single nucleotide variant Inborn genetic diseases [RCV004493322] Chr3:174275507 [GRCh38]
Chr3:173993297 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.2223T>G (p.Asp741Glu) single nucleotide variant Inborn genetic diseases [RCV004493315] Chr3:174280994 [GRCh38]
Chr3:173998784 [GRCh37]
Chr3:3q26.31
likely benign
NM_001365925.2(NLGN1):c.208A>G (p.Asn70Asp) single nucleotide variant NLGN1-related disorder [RCV003932101] Chr3:173604806 [GRCh38]
Chr3:173322596 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.111G>A (p.Leu37=) single nucleotide variant NLGN1-related disorder [RCV003933970] Chr3:173604709 [GRCh38]
Chr3:173322499 [GRCh37]
Chr3:3q26.31
likely benign
NM_001365925.2(NLGN1):c.777_779dup (p.Trp260Ter) duplication NLGN1-related disorder [RCV004755182] Chr3:174275383..174275384 [GRCh38]
Chr3:173993173..173993174 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.1634C>T (p.Pro545Leu) single nucleotide variant Autism, susceptibility to, 20 [RCV003991078] Chr3:174279575 [GRCh38]
Chr3:173997365 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.68G>A (p.Arg23Gln) single nucleotide variant Inborn genetic diseases [RCV004643780] Chr3:173604666 [GRCh38]
Chr3:173322456 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_001365925.2(NLGN1):c.247G>A (p.Val83Ile) single nucleotide variant Inborn genetic diseases [RCV004647275] Chr3:173604845 [GRCh38]
Chr3:173322635 [GRCh37]
Chr3:3q26.31
likely benign
NM_001365925.2(NLGN1):c.2000C>A (p.Thr667Lys) single nucleotide variant Inborn genetic diseases [RCV004647276] Chr3:174280771 [GRCh38]
Chr3:173998561 [GRCh37]
Chr3:3q26.31
likely benign
NM_001365925.2(NLGN1):c.1951T>G (p.Ser651Ala) single nucleotide variant Inborn genetic diseases [RCV004647277] Chr3:174280722 [GRCh38]
Chr3:173998512 [GRCh37]
Chr3:3q26.31
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3463
Count of miRNA genes:1071
Interacting mature miRNAs:1350
Transcripts:ENST00000361589, ENST00000401917, ENST00000413821, ENST00000415045, ENST00000423427, ENST00000457714, ENST00000466350, ENST00000469564, ENST00000469727, ENST00000482120, ENST00000490929, ENST00000545397
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
597063703GWAS1159777_Hbody weight QTL GWAS1159777 (human)0.000005body mass (VT:0001259)body weight (CMO:0000012)3174178168174178169Human
597421592GWAS1517666_Haspartate aminotransferase measurement, serum alanine aminotransferase measurement, low density lipoprotein triglyceride measurement, body fat percentage, high density lipoprotein cholesterol measurement, sex hormone-binding globulin measurement QTL GWAS1517666 (human)9e-09body fat mass (VT:0010482)blood high density lipoprotein cholesterol level (CMO:0000052)3173396515173396516Human
597226011GWAS1322085_Hself reported educational attainment QTL GWAS1322085 (human)8e-09self reported educational attainment3174206268174206269Human
597060370GWAS1156444_Hmetabolic syndrome QTL GWAS1156444 (human)3e-11metabolic syndrome3173949176173949177Human
597138334GWAS1234408_Hsuicide QTL GWAS1234408 (human)5e-08suicide3173894411173894412Human
597186193GWAS1282267_Hbody mass index QTL GWAS1282267 (human)3e-12body mass indexbody mass index (BMI) (CMO:0000105)3173937430173937431Human
406952264GWAS601240_Hparental longevity QTL GWAS601240 (human)0.000007total life span (VT:0001661)3174184754174184755Human
597493267GWAS1589341_HAntihypertensive use measurement QTL GWAS1589341 (human)7e-10Antihypertensive use measurement3173396515173396516Human
597342484GWAS1438558_Haging QTL GWAS1438558 (human)7e-09aging3173404702173404703Human
597031300GWAS1127374_Hadverse effect, response to xenobiotic stimulus QTL GWAS1127374 (human)0.0000003adverse effect, response to xenobiotic stimulus3174250679174250680Human
597094404GWAS1190478_Hschizophrenia QTL GWAS1190478 (human)9e-08schizophrenia3173786357173786358Human
597147651GWAS1243725_Heducational attainment QTL GWAS1243725 (human)4e-18educational attainment3174195031174195032Human
597147650GWAS1243724_Heducational attainment QTL GWAS1243724 (human)0.0000002educational attainment3173511118173511119Human
597459850GWAS1555924_Hbody mass index QTL GWAS1555924 (human)2e-08body mass indexbody mass index (BMI) (CMO:0000105)3173396515173396516Human
597310723GWAS1406797_Hvaginal microbiome measurement QTL GWAS1406797 (human)8e-08vaginal microbiome measurement3173831345173831346Human
407072345GWAS721321_Hvisceral adipose tissue measurement QTL GWAS721321 (human)3e-09visceral adipose tissue measurementabdominal fat morphological measurement (CMO:0000311)3174024752174024753Human
596977674GWAS1097193_Hbody mass index QTL GWAS1097193 (human)6e-16body mass indexbody mass index (BMI) (CMO:0000105)3173396515173396516Human
597381307GWAS1477381_Hbody mass index QTL GWAS1477381 (human)1e-17body mass indexbody mass index (BMI) (CMO:0000105)3173396515173396516Human
597139638GWAS1235712_Hmigraine disorder, type 2 diabetes mellitus QTL GWAS1235712 (human)1e-09migraine disorder, type 2 diabetes mellitus3173402313173402314Human
407389037GWAS1038013_Hacute myeloid leukemia QTL GWAS1038013 (human)6e-10leukocyte integrity trait (VT:0010898)3173691740173691741Human
597063987GWAS1160061_HBMI-adjusted waist-hip ratio QTL GWAS1160061 (human)0.000008body size trait (VT:0100005)3173866878173866879Human
407389038GWAS1038014_Hacute myeloid leukemia QTL GWAS1038014 (human)0.0000002leukocyte integrity trait (VT:0010898)3173691740173691741Human
597185841GWAS1281915_Hmajor depressive disorder QTL GWAS1281915 (human)1e-11major depressive disorder3173402313173402314Human
407047791GWAS696767_Htriacylglycerol 52:4 measurement QTL GWAS696767 (human)0.000002blood triglyceride amount (VT:0002644)3173748640173748641Human
597116474GWAS1212548_Hself reported educational attainment QTL GWAS1212548 (human)1e-08self reported educational attainment3174210946174210947Human
597240745GWAS1336819_Hattempted suicide QTL GWAS1336819 (human)2e-08attempted suicide3173412029173412030Human
597425194GWAS1521268_Hfrailty measurement QTL GWAS1521268 (human)2e-09frailty measurement3173396377173396378Human
597227437GWAS1323511_Hsmoking status measurement QTL GWAS1323511 (human)2e-08smoking status measurement3173635949173635950Human
597603239GWAS1660099_Htype 2 diabetes mellitus QTL GWAS1660099 (human)4e-12type 2 diabetes mellitus3173396515173396516Human
597329952GWAS1426026_Hwheezing QTL GWAS1426026 (human)0.000008wheezing3173599588173599589Human
597528486GWAS1624560_Hpain QTL GWAS1624560 (human)0.000007pain3173396377173396378Human
597431847GWAS1527921_Hgrip strength measurement QTL GWAS1527921 (human)7e-09grip strength measurement3173396515173396516Human
597493281GWAS1589355_Hinsomnia QTL GWAS1589355 (human)6e-11insomnia3173397575173397576Human
597311141GWAS1407215_Hvaginal microbiome measurement QTL GWAS1407215 (human)0.000002vaginal microbiome measurement3173831345173831346Human
597537369GWAS1633443_Hbody mass index QTL GWAS1633443 (human)3e-15body mass indexbody mass index (BMI) (CMO:0000105)3173396515173396516Human
597353951GWAS1450025_Hbody height QTL GWAS1450025 (human)5e-08body height (VT:0001253)body height (CMO:0000106)3173517275173517276Human
597156050GWAS1252124_Hlifestyle measurement, depressive symptom measurement QTL GWAS1252124 (human)0.0000003lifestyle measurement, depressive symptom measurement3173617268173617269Human
597137744GWAS1233818_Hsuicide behaviour QTL GWAS1233818 (human)0.000002suicide behaviour3173894411173894412Human
596954845GWAS1074364_Hbody mass index QTL GWAS1074364 (human)2e-08body mass indexbody mass index (BMI) (CMO:0000105)3173396515173396516Human
597532374GWAS1628448_Hpain QTL GWAS1628448 (human)1e-11pain3173396377173396378Human
597433815GWAS1529889_Hbody height QTL GWAS1529889 (human)6e-14body height (VT:0001253)body height (CMO:0000106)3173396515173396516Human
597294034GWAS1390108_Hceramide measurement QTL GWAS1390108 (human)0.000003ceramide measurement3173982532173982533Human
597445330GWAS1541404_Hhigh density lipoprotein cholesterol measurement QTL GWAS1541404 (human)0.0000007high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)3173396515173396516Human
597084632GWAS1180706_Htype 2 diabetes mellitus QTL GWAS1180706 (human)3e-08type 2 diabetes mellitus3173992905173992906Human
407047443GWAS696419_Htriacylglycerol 52:5 measurement QTL GWAS696419 (human)0.0000008blood triglyceride amount (VT:0002644)3173748640173748641Human
597088196GWAS1184270_Htype 2 diabetes mellitus QTL GWAS1184270 (human)6e-09type 2 diabetes mellitus3173401978173401979Human
597350088GWAS1446162_Hrestless legs syndrome QTL GWAS1446162 (human)1e-09restless legs syndrome3173410018173410019Human
597289162GWAS1385236_Hbone density QTL GWAS1385236 (human)3e-08bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)3173722647173722648Human
597277004GWAS1373078_Hdiet measurement QTL GWAS1373078 (human)5e-09diet measurementfood intake measurement (CMO:0000772)3174223200174223201Human
597514955GWAS1611029_Hbody mass index QTL GWAS1611029 (human)7e-17body mass indexbody mass index (BMI) (CMO:0000105)3173396515173396516Human
597065280GWAS1161354_Hresponse to simvastatin, total cholesterol change measurement, response to fenofibrate QTL GWAS1161354 (human)0.000001blood cholesterol amount (VT:0000180)blood total cholesterol level (CMO:0000051)3174201323174201324Human
597300045GWAS1396119_Hcarotid artery intima media thickness QTL GWAS1396119 (human)0.000005carotid artery intima media thickness3173606700173606701Human
597226817GWAS1322891_Hsmoking status measurement QTL GWAS1322891 (human)3e-11smoking status measurement3173679550173679551Human
407046681GWAS695657_Hperiodontitis QTL GWAS695657 (human)0.000006periodontitis3173462843173462844Human
597059144GWAS1155218_Hadolescent idiopathic scoliosis QTL GWAS1155218 (human)2e-09adolescent idiopathic scoliosis3173590210173590211Human
407057309GWAS706285_Htriacylglycerol 56:3 measurement QTL GWAS706285 (human)0.000005blood triglyceride amount (VT:0002644)3173748640173748641Human
597048777GWAS1144851_Hleukocyte count QTL GWAS1144851 (human)4e-08leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)3173401978173401979Human
597507453GWAS1603527_HHeadache, type 2 diabetes mellitus QTL GWAS1603527 (human)3e-10Headache, type 2 diabetes mellitus3173399758173399759Human
596973813GWAS1093332_Hmajor depressive disorder QTL GWAS1093332 (human)1e-11major depressive disorder3173402313173402314Human
596955126GWAS1074645_Hbone density QTL GWAS1074645 (human)3e-08bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)3173722647173722648Human
407116327GWAS765303_Hrisk-taking behaviour QTL GWAS765303 (human)1e-11risk-taking behaviour3173964050173964051Human
407048103GWAS697079_Htriacylglycerol 50:4 measurement QTL GWAS697079 (human)0.000004blood triglyceride amount (VT:0002644)3173748640173748641Human
597144818GWAS1240892_Hself reported educational attainment QTL GWAS1240892 (human)4e-09self reported educational attainment3174192301174192302Human
597144944GWAS1241018_Hself reported educational attainment QTL GWAS1241018 (human)6e-08self reported educational attainment3174192301174192302Human
596977405GWAS1096924_Hdiacylglycerol 36:2 measurement QTL GWAS1096924 (human)0.000007milk diacylglycerol amount (VT:0010385)3173748640173748641Human
597017087GWAS1113161_Hbody mass index QTL GWAS1113161 (human)6e-16body mass indexbody mass index (BMI) (CMO:0000105)3173396515173396516Human
406908330GWAS557306_Hattention deficit hyperactivity disorder, bipolar disorder QTL GWAS557306 (human)0.0000001attention deficit hyperactivity disorder, bipolar disorder3173822316173822317Human
407057320GWAS706296_Htriacylglycerol 56:4 measurement QTL GWAS706296 (human)0.000006blood triglyceride amount (VT:0002644)3173748640173748641Human
597601525GWAS1658385_Hbody mass index QTL GWAS1658385 (human)3e-11body mass indexbody mass index (BMI) (CMO:0000105)3174029302174029303Human
597517937GWAS1614011_Hdrug use measurement QTL GWAS1614011 (human)1e-15drug use measurement3173396931173396932Human
597161851GWAS1257925_Hlipid measurement QTL GWAS1257925 (human)0.000003lipid measurementblood lipid measurement (CMO:0000050)3174077369174077370Human
597357687GWAS1453761_Hbody height QTL GWAS1453761 (human)7e-09body height (VT:0001253)body height (CMO:0000106)3173915199173915200Human
597311348GWAS1407422_Hvaginal microbiome measurement QTL GWAS1407422 (human)0.0000006vaginal microbiome measurement3173831345173831346Human
597091814GWAS1187888_Hmotion sickness QTL GWAS1187888 (human)6e-13motion sickness3173666799173666800Human
597262441GWAS1358515_Hamino acid measurement QTL GWAS1358515 (human)0.0000007amino acid measurement3174231787174231788Human
597332590GWAS1428664_Hsmoking initiation QTL GWAS1428664 (human)8e-21smoking initiation3173635949173635950Human
597333870GWAS1429944_HRS-warfarin measurement QTL GWAS1429944 (human)0.00001RS-warfarin measurement3174074446174074447Human
597497320GWAS1593394_Hfat body mass QTL GWAS1593394 (human)2e-11body fat mass (VT:0010482)total body fat mass (CMO:0000305)3173396515173396516Human
597225581GWAS1321655_Hsmoking initiation QTL GWAS1321655 (human)1e-08smoking initiation3173679550173679551Human
596960610GWAS1080129_Hmetabolic syndrome QTL GWAS1080129 (human)3e-11metabolic syndrome3173949176173949177Human
597127008GWAS1223082_Hattention deficit hyperactivity disorder, substance abuse, antisocial behaviour measurement QTL GWAS1223082 (human)6e-09attention deficit hyperactivity disorder, substance abuse, antisocial behaviour measurement3173680206173680207Human
597181024GWAS1277098_Hsmoking initiation QTL GWAS1277098 (human)1e-21smoking initiation3173646372173646373Human
597501156GWAS1597230_Hinsomnia QTL GWAS1597230 (human)4e-15insomnia3173396723173396724Human
597248992GWAS1345066_HHbA1c measurement QTL GWAS1345066 (human)7e-11HbA1c measurementblood hemoglobin A1c level (CMO:0002786)3174266048174266049Human
597423456GWAS1519530_Htriglyceride measurement QTL GWAS1519530 (human)0.000005triglyceride measurementblood triglyceride level (CMO:0000118)3173396515173396516Human
597486183GWAS1582257_Hbody mass index QTL GWAS1582257 (human)8e-15body mass indexbody mass index (BMI) (CMO:0000105)3173396515173396516Human
407035326GWAS684302_Hunipolar depression QTL GWAS684302 (human)1e-11unipolar depression3173402313173402314Human
597445347GWAS1541421_Hbody fat percentage QTL GWAS1541421 (human)6e-12body fat mass (VT:0010482)body fat percentage (CMO:0000302)3173396515173396516Human
597186151GWAS1282225_Hbody mass index QTL GWAS1282225 (human)4e-09body mass indexbody mass index (BMI) (CMO:0000105)3173458586173458587Human
407050556GWAS699532_Htriacylglycerol 54:6 measurement QTL GWAS699532 (human)0.000008blood triglyceride amount (VT:0002644)3173748640173748641Human

Markers in Region
D3S1565  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373173,482,694 - 173,482,938UniSTSGRCh37
GRCh373173,482,818 - 173,482,935UniSTSGRCh37
Build 363174,965,512 - 174,965,629RGDNCBI36
Celera3171,881,720 - 171,881,836RGD
Celera3171,881,596 - 171,881,839UniSTS
Cytogenetic Map3q26.31UniSTS
HuRef3170,855,441 - 170,855,976UniSTS
Marshfield Genetic Map3186.04RGD
Genethon Genetic Map3193.0UniSTS
TNG Radiation Hybrid Map397291.0UniSTS
deCODE Assembly Map3177.94UniSTS
Stanford-G3 RH Map37751.0UniSTS
GeneMap99-GB4 RH Map3657.35UniSTS
Whitehead-RH Map3795.7UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map31574.4UniSTS
GeneMap99-G3 RH Map38221.0UniSTS
D3S2425  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373173,563,371 - 173,563,514UniSTSGRCh37
Build 363175,046,065 - 175,046,208RGDNCBI36
Celera3171,962,283 - 171,962,426RGD
Cytogenetic Map3q26.31UniSTS
HuRef3170,936,658 - 170,936,801UniSTS
Marshfield Genetic Map3185.4RGD
Marshfield Genetic Map3185.4UniSTS
deCODE Assembly Map3178.27UniSTS
Whitehead-YAC Contig Map3 UniSTS
RH46211  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373173,793,234 - 173,793,384UniSTSGRCh37
Build 363175,275,928 - 175,276,078RGDNCBI36
Celera3172,192,106 - 172,192,256RGD
Cytogenetic Map3q26.31UniSTS
HuRef3171,166,752 - 171,166,902UniSTS
GeneMap99-GB4 RH Map3683.42UniSTS
D3S2361  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373173,853,336 - 173,853,594UniSTSGRCh37
Build 363175,336,030 - 175,336,288RGDNCBI36
Celera3172,252,513 - 172,252,771RGD
Cytogenetic Map3q26.31UniSTS
HuRef3171,227,135 - 171,227,393UniSTS
Whitehead-YAC Contig Map3 UniSTS
RH47794  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373173,213,270 - 173,213,432UniSTSGRCh37
Build 363174,695,964 - 174,696,126RGDNCBI36
Celera3171,612,226 - 171,612,388RGD
Cytogenetic Map3q26.31UniSTS
HuRef3170,586,332 - 170,586,494UniSTS
GeneMap99-GB4 RH Map3654.94UniSTS
NCBI RH Map31574.4UniSTS
SHGC-77554  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373173,610,160 - 173,610,362UniSTSGRCh37
Build 363175,092,854 - 175,093,056RGDNCBI36
Celera3172,009,014 - 172,009,216RGD
Cytogenetic Map3q26.31UniSTS
HuRef3170,983,515 - 170,983,717UniSTS
TNG Radiation Hybrid Map2019334.0UniSTS
GeneMap99-GB4 RH Map3649.77UniSTS
Whitehead-RH Map3799.8UniSTS
NCBI RH Map31574.4UniSTS
RH48016  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373174,000,653 - 174,000,810UniSTSGRCh37
Build 363175,483,347 - 175,483,504RGDNCBI36
Celera3172,400,066 - 172,400,223RGD
Cytogenetic Map3q26.31UniSTS
HuRef3171,374,361 - 171,374,518UniSTS
GeneMap99-GB4 RH Map3653.8UniSTS
NCBI RH Map31574.4UniSTS
RH48275  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373173,574,666 - 173,574,800UniSTSGRCh37
Build 363175,057,360 - 175,057,494RGDNCBI36
Celera3171,973,577 - 171,973,711RGD
Cytogenetic Map3q26.31UniSTS
HuRef3170,947,952 - 170,948,086UniSTS
GeneMap99-GB4 RH Map3648.54UniSTS
RH104007  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373173,999,119 - 173,999,249UniSTSGRCh37
Build 363175,481,813 - 175,481,943RGDNCBI36
Celera3172,398,532 - 172,398,662RGD
Cytogenetic Map3q26.31UniSTS
HuRef3171,372,827 - 171,372,957UniSTS
GeneMap99-GB4 RH Map3658.43UniSTS
SHGC-84720  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373173,705,317 - 173,705,622UniSTSGRCh37
Build 363175,188,011 - 175,188,316RGDNCBI36
Celera3172,104,186 - 172,104,491RGD
Cytogenetic Map3q26.31UniSTS
HuRef3171,078,806 - 171,079,111UniSTS
TNG Radiation Hybrid Map397403.0UniSTS
RH120677  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373173,302,496 - 173,302,775UniSTSGRCh37
Build 363174,785,190 - 174,785,469RGDNCBI36
Celera3171,701,395 - 171,701,674RGD
Cytogenetic Map3q26.31UniSTS
HuRef3170,675,497 - 170,675,777UniSTS
TNG Radiation Hybrid Map397213.0UniSTS
RH120987  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373173,304,871 - 173,305,143UniSTSGRCh37
Build 363174,787,565 - 174,787,837RGDNCBI36
Celera3171,703,770 - 171,704,042RGD
Cytogenetic Map3q26.31UniSTS
HuRef3170,677,873 - 170,678,145UniSTS
RH122102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373173,962,904 - 173,963,175UniSTSGRCh37
Build 363175,445,598 - 175,445,869RGDNCBI36
Celera3172,362,318 - 172,362,589RGD
Cytogenetic Map3q26.31UniSTS
HuRef3171,336,618 - 171,336,889UniSTS
TNG Radiation Hybrid Map397529.0UniSTS
RH123586  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373173,963,605 - 173,963,939UniSTSGRCh37
Build 363175,446,299 - 175,446,633RGDNCBI36
Celera3172,363,019 - 172,363,353RGD
Cytogenetic Map3q26.31UniSTS
HuRef3171,337,319 - 171,337,653UniSTS
TNG Radiation Hybrid Map397529.0UniSTS
RH119354  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373173,801,440 - 173,801,737UniSTSGRCh37
Build 363175,284,134 - 175,284,431RGDNCBI36
Celera3172,200,312 - 172,200,609RGD
Cytogenetic Map3q26.31UniSTS
HuRef3171,174,954 - 171,175,251UniSTS
TNG Radiation Hybrid Map397471.0UniSTS
D3S1240  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373173,547,294 - 173,547,418UniSTSGRCh37
Build 363175,029,988 - 175,030,112RGDNCBI36
Celera3171,946,202 - 171,946,318RGD
Cytogenetic Map3q26.31UniSTS
HuRef3170,920,386 - 170,920,498UniSTS
SHGC-111576  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373173,638,865 - 173,639,207UniSTSGRCh37
Build 363175,121,559 - 175,121,901RGDNCBI36
Celera3172,037,729 - 172,038,071RGD
Cytogenetic Map3q26.31UniSTS
HuRef3171,012,233 - 171,012,580UniSTS
TNG Radiation Hybrid Map397364.0UniSTS
SHGC-105188  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373173,512,989 - 173,513,284UniSTSGRCh37
Build 363174,995,683 - 174,995,978RGDNCBI36
Celera3171,911,880 - 171,912,175RGD
Cytogenetic Map3q26.31UniSTS
HuRef3170,886,072 - 170,886,367UniSTS
TNG Radiation Hybrid Map397273.0UniSTS
SHGC-105283  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373173,897,611 - 173,897,922UniSTSGRCh37
Build 363175,380,305 - 175,380,616RGDNCBI36
Celera3172,296,793 - 172,297,104RGD
Cytogenetic Map3q26.31UniSTS
HuRef3171,271,093 - 171,271,404UniSTS
TNG Radiation Hybrid Map397518.0UniSTS
SHGC-24334  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373173,868,801 - 173,868,928UniSTSGRCh37
Build 363175,351,495 - 175,351,622RGDNCBI36
Celera3172,267,983 - 172,268,110RGD
Cytogenetic Map3q26.31UniSTS
HuRef3171,242,285 - 171,242,412UniSTS
GeneMap99-G3 RH Map38216.0UniSTS
G65623  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373173,361,752 - 173,362,098UniSTSGRCh37
Build 363174,844,446 - 174,844,792RGDNCBI36
Celera3171,760,647 - 171,760,993RGD
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map3q26.31UniSTS
HuRef3170,734,671 - 170,735,017UniSTS
D3S1494E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373173,582,655 - 173,582,764UniSTSGRCh37
Build 363175,065,349 - 175,065,458RGDNCBI36
Celera3171,981,566 - 171,981,675RGD
HuRef3170,956,012 - 170,956,121UniSTS
G31504  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373173,793,234 - 173,793,340UniSTSGRCh37
Build 363175,275,928 - 175,276,034RGDNCBI36
Celera3172,192,106 - 172,192,212RGD
Cytogenetic Map3q26.31UniSTS
HuRef3171,166,752 - 171,166,858UniSTS
WI-11234  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373173,944,223 - 173,944,385UniSTSGRCh37
Build 363175,426,917 - 175,427,079RGDNCBI36
Celera3172,343,636 - 172,343,798RGD
Cytogenetic Map3q26.31UniSTS
HuRef3171,317,960 - 171,318,122UniSTS
Whitehead-RH Map3801.3UniSTS
Whitehead-YAC Contig Map3 UniSTS
NLGN1__6059  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373174,000,101 - 174,001,005UniSTSGRCh37
Build 363175,482,795 - 175,483,699RGDNCBI36
Celera3172,399,514 - 172,400,418RGD
HuRef3171,373,809 - 171,374,713UniSTS
D3S1565  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8p23UniSTS
Cytogenetic Map3q26.31UniSTS
Marshfield Genetic Map3186.04UniSTS
Genethon Genetic Map3193.0UniSTS
deCODE Assembly Map3177.94UniSTS
GeneMap99-GB4 RH Map3657.35UniSTS
Whitehead-RH Map3795.7UniSTS
Whitehead-YAC Contig Map3 UniSTS


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 2283 2784 2224 4957 1445 2006 3 363 879 202 2264 5821 5390 44 3725 815 1661 1536 167 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_046919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005247237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB028993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC018456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC069531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC110871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC131158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB052838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA310134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ489206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000361589   ⟹   ENSP00000354541
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3173,584,555 - 174,283,123 (+)Ensembl
Ensembl Acc Id: ENST00000401917   ⟹   ENSP00000385750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3174,275,314 - 174,281,303 (+)Ensembl
Ensembl Acc Id: ENST00000413821   ⟹   ENSP00000401843
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3173,397,780 - 173,604,629 (+)Ensembl
Ensembl Acc Id: ENST00000415045   ⟹   ENSP00000410374
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3173,584,920 - 174,281,303 (+)Ensembl
Ensembl Acc Id: ENST00000423427   ⟹   ENSP00000407255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3173,396,284 - 173,604,637 (+)Ensembl
Ensembl Acc Id: ENST00000457714   ⟹   ENSP00000392500
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3173,398,448 - 174,286,644 (+)Ensembl
Ensembl Acc Id: ENST00000466350
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3174,136,435 - 174,279,362 (+)Ensembl
Ensembl Acc Id: ENST00000469564
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3174,136,448 - 174,279,092 (+)Ensembl
Ensembl Acc Id: ENST00000469727
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3174,136,462 - 174,279,055 (+)Ensembl
Ensembl Acc Id: ENST00000482120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3173,397,782 - 173,399,871 (+)Ensembl
Ensembl Acc Id: ENST00000490929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3174,136,462 - 174,275,513 (+)Ensembl
Ensembl Acc Id: ENST00000695368   ⟹   ENSP00000511841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3173,397,744 - 174,294,372 (+)Ensembl
RefSeq Acc Id: NM_001365923   ⟹   NP_001352852
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383173,395,952 - 174,294,372 (+)NCBI
T2T-CHM13v2.03176,181,719 - 177,081,314 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001365924   ⟹   NP_001352853
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383173,395,952 - 174,294,372 (+)NCBI
T2T-CHM13v2.03176,181,719 - 177,081,314 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001365925   ⟹   NP_001352854
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383173,397,744 - 174,294,372 (+)NCBI
T2T-CHM13v2.03176,183,511 - 177,081,314 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001365926   ⟹   NP_001352855
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383173,397,744 - 174,294,372 (+)NCBI
T2T-CHM13v2.03176,183,511 - 177,081,314 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001365927   ⟹   NP_001352856
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383173,584,434 - 174,294,372 (+)NCBI
T2T-CHM13v2.03176,370,229 - 177,081,314 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001365928   ⟹   NP_001352857
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383173,584,434 - 174,294,372 (+)NCBI
T2T-CHM13v2.03176,370,229 - 177,081,314 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001365929   ⟹   NP_001352858
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383173,395,952 - 174,294,372 (+)NCBI
T2T-CHM13v2.03176,181,719 - 177,081,314 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001365930   ⟹   NP_001352859
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383173,395,952 - 174,294,372 (+)NCBI
T2T-CHM13v2.03176,181,719 - 177,081,314 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001365931   ⟹   NP_001352860
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383173,397,744 - 174,294,372 (+)NCBI
T2T-CHM13v2.03176,183,511 - 177,081,314 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001365932   ⟹   NP_001352861
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383173,397,744 - 174,294,372 (+)NCBI
T2T-CHM13v2.03176,183,511 - 177,081,314 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001365933   ⟹   NP_001352862
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383173,584,434 - 174,294,372 (+)NCBI
T2T-CHM13v2.03176,370,229 - 177,081,314 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001365934   ⟹   NP_001352863
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383173,584,434 - 174,294,372 (+)NCBI
T2T-CHM13v2.03176,370,229 - 177,081,314 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001365935   ⟹   NP_001352864
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383173,397,744 - 174,294,372 (+)NCBI
T2T-CHM13v2.03176,183,511 - 177,081,314 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001365936   ⟹   NP_001352865
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383173,395,952 - 174,294,372 (+)NCBI
T2T-CHM13v2.03176,181,719 - 177,081,314 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014932   ⟹   NP_055747
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383173,397,744 - 174,294,372 (+)NCBI
GRCh373173,115,570 - 174,004,434 (+)NCBI
Build 363174,598,938 - 175,483,810 (+)NCBI Archive
HuRef3170,489,300 - 171,374,847 (+)NCBI
CHM1_13173,079,120 - 173,964,074 (+)NCBI
T2T-CHM13v2.03176,183,511 - 177,081,314 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005247237   ⟹   XP_005247294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383173,684,201 - 174,294,372 (+)NCBI
GRCh373173,115,570 - 174,004,434 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011512553   ⟹   XP_011510855
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383174,136,462 - 174,294,372 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017005888   ⟹   XP_016861377
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383173,397,744 - 174,294,372 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017005893   ⟹   XP_016861382
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383173,395,952 - 174,294,372 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017005895   ⟹   XP_016861384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383173,408,933 - 174,294,372 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017005896   ⟹   XP_016861385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383173,395,952 - 174,294,372 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017005900   ⟹   XP_016861389
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383173,397,744 - 174,294,372 (+)NCBI
Sequence: