PDE1C (phosphodiesterase 1C) - Rat Genome Database

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Gene: PDE1C (phosphodiesterase 1C) Homo sapiens
Analyze
Symbol: PDE1C
Name: phosphodiesterase 1C
RGD ID: 68463
HGNC Page HGNC:8776
Description: Enables calmodulin-activated dual specificity 3',5'-cyclic-GMP, 3',5'-cyclic-AMP phosphodiesterase activity. Predicted to be involved in cAMP-mediated signaling. Predicted to act upstream of or within response to calcium ion and sensory perception of smell. Predicted to be located in cilium and lysosome. Predicted to be active in neuronal cell body. Implicated in autosomal dominant nonsyndromic deafness 74.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 3',5'-cyclic-AMP phosphodiesterase; 3',5'-cyclic-GMP phosphodiesterase; calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C; cam-PDE 1C; DFNA74; dual specificity Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C; hCam-3; Hcam3; Human 3',5' cyclic nucleotide phosphodiesterase (HSPDE1C1A); phosphodiesterase 1C, calmodulin-dependent 70kDa
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
GRCh38731,616,777 - 32,428,224 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl731,751,179 - 32,428,131 (-)EnsemblGRCh38hg38GRCh38
GRCh37731,790,793 - 32,467,836 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36731,795,772 - 32,077,516 (-)NCBINCBI36Build 36hg18NCBI36
Build 34731,602,486 - 31,884,231NCBI
Celera731,779,557 - 32,325,238 (-)NCBICelera
Cytogenetic Map7p14.3NCBI
HuRef731,673,350 - 32,219,567 (-)NCBIHuRef
CHM1_1731,792,207 - 32,337,961 (-)NCBICHM1_1
T2T-CHM13v2.0731,754,475 - 32,567,499 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2731,840,922 - 32,386,609 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Biochemistry and physiology of cyclic nucleotide phosphodiesterases: essential components in cyclic nucleotide signaling. Conti M and Beavo J, Annu Rev Biochem. 2007;76:481-511.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1326532   PMID:8557689   PMID:8889548   PMID:11156964   PMID:11369604   PMID:11834707   PMID:12477932   PMID:12853948   PMID:14702039   PMID:16344560   PMID:16455054   PMID:16712791  
PMID:17726023   PMID:18335582   PMID:19240061   PMID:20110084   PMID:20379614   PMID:21873635   PMID:23472165   PMID:23509613   PMID:25608528   PMID:25620587   PMID:28065597   PMID:28514442  
PMID:29860631   PMID:31586073   PMID:33789162   PMID:33961781   PMID:34312235   PMID:35264565   PMID:35831314   PMID:35941108   PMID:36215168   PMID:38334954  


Genomics

Comparative Map Data
PDE1C
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38731,616,777 - 32,428,224 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl731,751,179 - 32,428,131 (-)EnsemblGRCh38hg38GRCh38
GRCh37731,790,793 - 32,467,836 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36731,795,772 - 32,077,516 (-)NCBINCBI36Build 36hg18NCBI36
Build 34731,602,486 - 31,884,231NCBI
Celera731,779,557 - 32,325,238 (-)NCBICelera
Cytogenetic Map7p14.3NCBI
HuRef731,673,350 - 32,219,567 (-)NCBIHuRef
CHM1_1731,792,207 - 32,337,961 (-)NCBICHM1_1
T2T-CHM13v2.0731,754,475 - 32,567,499 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2731,840,922 - 32,386,609 (-)NCBI
Pde1c
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39656,046,783 - 56,629,590 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl656,046,789 - 56,629,472 (-)EnsemblGRCm39 Ensembl
GRCm38656,069,798 - 56,652,510 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl656,069,804 - 56,652,487 (-)EnsemblGRCm38mm10GRCm38
MGSCv37656,019,798 - 56,319,628 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36656,011,359 - 56,292,097 (-)NCBIMGSCv36mm8
Celera660,236,120 - 60,238,326 (-)NCBICelera
Celera656,847,453 - 57,126,888 (-)NCBICelera
Cytogenetic Map6B3NCBI
cM Map627.65NCBI
Pde1c
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8486,629,074 - 87,108,147 (-)NCBIGRCr8
mRatBN7.2485,300,858 - 85,777,948 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl485,300,858 - 85,863,219 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx490,536,092 - 91,012,558 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0486,311,496 - 86,787,976 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0484,708,405 - 85,182,236 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0486,359,762 - 86,925,044 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl486,359,820 - 86,630,543 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04151,012,195 - 151,485,775 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4484,936,642 - 85,448,339 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1485,180,112 - 85,587,782 (-)NCBI
Celera480,156,679 - 80,622,825 (-)NCBICelera
Cytogenetic Map4q24NCBI
Pde1c
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541032,792,649 - 33,257,291 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541032,790,720 - 33,257,760 (-)NCBIChiLan1.0ChiLan1.0
PDE1C
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2636,436,114 - 37,235,708 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1784,760,632 - 85,560,321 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0732,225,293 - 33,037,627 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1732,477,361 - 33,030,078 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl732,343,701 - 33,029,405 (-)Ensemblpanpan1.1panPan2
PDE1C
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11444,250,612 - 44,543,818 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1444,145,534 - 44,644,937 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1443,683,659 - 44,165,857 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01444,194,159 - 44,675,717 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1444,193,155 - 44,675,842 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11444,315,468 - 44,607,684 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01443,982,193 - 44,460,807 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01444,346,723 - 44,834,997 (-)NCBIUU_Cfam_GSD_1.0
Pde1c
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511888,688,701 - 89,286,505 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364787,900,432 - 8,393,631 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364787,900,432 - 8,499,300 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PDE1C
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1840,820,644 - 41,409,087 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11840,818,316 - 41,410,555 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
PDE1C
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12126,094,604 - 26,712,127 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2126,501,264 - 26,598,053 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604278,073,957 - 78,643,089 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pde1c
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247831,027,548 - 1,139,231 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247831,025,606 - 1,708,803 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PDE1C
254 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1
pathogenic
GRCh38/hg38 7p14.3(chr7:30420933-34560665)x3 copy number gain See cases [RCV000051178] Chr7:30420933..34560665 [GRCh38]
Chr7:30460549..34600277 [GRCh37]
Chr7:30427074..34566802 [NCBI36]
Chr7:7p14.3
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2
pathogenic
NM_001191056.2(PDE1C):c.1627G>A (p.Ala543Thr) single nucleotide variant Malignant melanoma [RCV000067848] Chr7:31816110 [GRCh38]
Chr7:31855724 [GRCh37]
Chr7:31822249 [NCBI36]
Chr7:7p14.3
not provided
NM_001191056.2(PDE1C):c.1500C>T (p.Ser500=) single nucleotide variant Malignant melanoma [RCV000067849] Chr7:31823155 [GRCh38]
Chr7:31862769 [GRCh37]
Chr7:31829294 [NCBI36]
Chr7:7p14.3
not provided
NM_001191056.2(PDE1C):c.1336A>T (p.Thr446Ser) single nucleotide variant Malignant melanoma [RCV000067850] Chr7:31824937 [GRCh38]
Chr7:31864551 [GRCh37]
Chr7:31831076 [NCBI36]
Chr7:7p14.3
not provided
NM_001191056.2(PDE1C):c.676C>T (p.Pro226Ser) single nucleotide variant Malignant melanoma [RCV000067851] Chr7:31865016 [GRCh38]
Chr7:31904630 [GRCh37]
Chr7:31871155 [NCBI36]
Chr7:7p14.3
not provided
NM_001191058.2(PDE1C):c.25G>A (p.Glu9Lys) single nucleotide variant Malignant melanoma [RCV000067852] Chr7:32298711 [GRCh38]
Chr7:32338323 [GRCh37]
Chr7:32304848 [NCBI36]
Chr7:7p14.3
not provided
NM_001191056.2(PDE1C):c.1600G>A (p.Glu534Lys) single nucleotide variant Malignant melanoma [RCV000061631] Chr7:31816137 [GRCh38]
Chr7:31855751 [GRCh37]
Chr7:31822276 [NCBI36]
Chr7:7p14.3
not provided
NM_001191056.2(PDE1C):c.1404G>A (p.Ser468=) single nucleotide variant Malignant melanoma [RCV000061632] Chr7:31824869 [GRCh38]
Chr7:31864483 [GRCh37]
Chr7:31831008 [NCBI36]
Chr7:7p14.3
not provided
NM_001191056.2(PDE1C):c.130T>G (p.Leu44Val) single nucleotide variant Malignant melanoma [RCV000061633] Chr7:31880859 [GRCh38]
Chr7:31920472 [GRCh37]
Chr7:31886997 [NCBI36]
Chr7:7p14.3
not provided
NM_001191056.2(PDE1C):c.129-1992C>T single nucleotide variant Lung cancer [RCV000105989] Chr7:31882852 [GRCh38]
Chr7:31922465 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191056.2(PDE1C):c.129-3730C>T single nucleotide variant Lung cancer [RCV000105990] Chr7:31884590 [GRCh38]
Chr7:31924203 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191056.2(PDE1C):c.128+64654A>G single nucleotide variant Lung cancer [RCV000105991] Chr7:31986900 [GRCh38]
Chr7:32026512 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191056.2(PDE1C):c.128+5303T>A single nucleotide variant Lung cancer [RCV000105992] Chr7:32046251 [GRCh38]
Chr7:32085863 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191056.2(PDE1C):c.101+2481T>C single nucleotide variant Lung cancer [RCV000105993] Chr7:32067812 [GRCh38]
Chr7:32107424 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191058.2(PDE1C):c.308+11177G>T single nucleotide variant Lung cancer [RCV000105994] Chr7:32158608 [GRCh38]
Chr7:32198220 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.335G>A (p.Arg112Gln) single nucleotide variant Malignant tumor of prostate [RCV000149094] Chr7:31879086 [GRCh38]
Chr7:31918699 [GRCh37]
Chr7:7p14.3
uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1 copy number loss See cases [RCV000136775] Chr7:20561456..32005143 [GRCh38]
Chr7:20601079..32044755 [GRCh37]
Chr7:20567604..32011280 [NCBI36]
Chr7:7p21.1-14.3
pathogenic
GRCh38/hg38 7p14.3(chr7:31815182-32377413)x3 copy number gain See cases [RCV000137969] Chr7:31815182..32377413 [GRCh38]
Chr7:31854796..32417025 [GRCh37]
Chr7:31821321..32383550 [NCBI36]
Chr7:7p14.3
uncertain significance
GRCh38/hg38 7p14.3(chr7:31095071-31830903)x3 copy number gain See cases [RCV000138527] Chr7:31095071..31830903 [GRCh38]
Chr7:31134685..31870517 [GRCh37]
Chr7:31101210..31837042 [NCBI36]
Chr7:7p14.3
likely benign
GRCh38/hg38 7p14.3(chr7:32186907-32377354)x3 copy number gain See cases [RCV000140264] Chr7:32186907..32377354 [GRCh38]
Chr7:32226519..32416966 [GRCh37]
Chr7:32193044..32383491 [NCBI36]
Chr7:7p14.3
likely benign
GRCh38/hg38 7p14.3(chr7:30938370-33400996)x1 copy number loss See cases [RCV000141441] Chr7:30938370..33400996 [GRCh38]
Chr7:30977985..33440608 [GRCh37]
Chr7:30944510..33407133 [NCBI36]
Chr7:7p14.3
likely pathogenic
NM_006658.5(PPP1R17):c.169G>A (p.Glu57Lys) single nucleotide variant Hypercholesterolemia [RCV004701238] Chr7:31695555 [GRCh38]
Chr7:31735169 [GRCh37]
Chr7:31701694 [NCBI36]
Chr7:7p14.3
uncertain significance|not provided
NM_006658.4(PPP1R17):c.-36-1302A>G single nucleotide variant Lung cancer [RCV000105988] Chr7:31691104 [GRCh38]
Chr7:31730718 [GRCh37]
Chr7:7p14.3
uncertain significance
GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1 copy number loss See cases [RCV000240125] Chr7:22935369..32621975 [GRCh37]
Chr7:7p15.3-14.3
pathogenic
NM_001191057.4(PDE1C):c.376C>G (p.Arg126Gly) single nucleotide variant Hearing loss, autosomal dominant 74 [RCV004821424] Chr7:31879045 [GRCh38]
Chr7:31918658 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.778G>T (p.Ala260Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss [RCV000590894]|Hearing loss, autosomal dominant 74 [RCV000690972] Chr7:31850714 [GRCh38]
Chr7:31890328 [GRCh37]
Chr7:7p14.3
pathogenic|likely pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3 copy number gain See cases [RCV000446478] Chr7:11562624..36395416 [GRCh37]
Chr7:7p21.3-14.2
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 copy number gain See cases [RCV000512091] Chr7:11048840..52863626 [GRCh37]
Chr7:7p21.3-12.1
pathogenic
NM_006658.5(PPP1R17):c.29T>G (p.Leu10Arg) single nucleotide variant not specified [RCV000455073] Chr7:31692470 [GRCh38]
Chr7:31732084 [GRCh37]
Chr7:7p14.3
benign
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_001257967.3(ITPRID1):c.1955A>T (p.Tyr652Phe) single nucleotide variant not specified [RCV004293667] Chr7:31643325 [GRCh38]
Chr7:31682939 [GRCh37]
Chr7:7p14.3
uncertain significance
GRCh37/hg19 7p14.3(chr7:31039091-31858169)x1 copy number loss not provided [RCV000682867] Chr7:31039091..31858169 [GRCh37]
Chr7:7p14.3
uncertain significance
GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)x3 copy number gain not provided [RCV000682909] Chr7:30463886..43470805 [GRCh37]
Chr7:7p14.3-13
pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p14.3(chr7:32009914-32133424)x1 copy number loss not provided [RCV000746599] Chr7:32009914..32133424 [GRCh37]
Chr7:7p14.3
benign
GRCh37/hg19 7p14.3(chr7:32166169-32170239)x1 copy number loss not provided [RCV000746600] Chr7:32166169..32170239 [GRCh37]
Chr7:7p14.3
benign
GRCh37/hg19 7p14.3(chr7:32209193-32423399)x3 copy number gain not provided [RCV000746601] Chr7:32209193..32423399 [GRCh37]
Chr7:7p14.3
benign
GRCh37/hg19 7p14.3(chr7:32209459-32399833)x3 copy number gain not provided [RCV000746602] Chr7:32209459..32399833 [GRCh37]
Chr7:7p14.3
benign
NM_001191057.4(PDE1C):c.851+149A>G single nucleotide variant not provided [RCV001611771] Chr7:31850492 [GRCh38]
Chr7:31890106 [GRCh37]
Chr7:7p14.3
benign
NM_001191057.4(PDE1C):c.851+151C>T single nucleotide variant not provided [RCV001679305] Chr7:31850490 [GRCh38]
Chr7:31890104 [GRCh37]
Chr7:7p14.3
benign
NM_001191058.4(PDE1C):c.86-65T>C single nucleotide variant not provided [RCV001693243] Chr7:32209604 [GRCh38]
Chr7:32249216 [GRCh37]
Chr7:7p14.3
benign
NM_001191057.4(PDE1C):c.243-126T>G single nucleotide variant not provided [RCV001707089] Chr7:31879304 [GRCh38]
Chr7:31918917 [GRCh37]
Chr7:7p14.3
benign
NM_001257967.3(ITPRID1):c.1266C>G (p.Asp422Glu) single nucleotide variant not specified [RCV004288511] Chr7:31642213 [GRCh38]
Chr7:31681827 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.1961-123A>C single nucleotide variant not provided [RCV001611883] Chr7:31753676 [GRCh38]
Chr7:31793290 [GRCh37]
Chr7:7p14.3
benign
NM_001191057.4(PDE1C):c.1830T>C (p.Gly610=) single nucleotide variant Hearing loss, autosomal dominant 74 [RCV001788666]|not provided [RCV001645237] Chr7:31809092 [GRCh38]
Chr7:31848706 [GRCh37]
Chr7:7p14.3
benign
NM_001191058.4(PDE1C):c.279C>T (p.Ser93=) single nucleotide variant PDE1C-related disorder [RCV003926085]|not provided [RCV000958598] Chr7:32169814 [GRCh38]
Chr7:32209426 [GRCh37]
Chr7:7p14.3
benign
NM_001191057.4(PDE1C):c.1904G>A (p.Arg635His) single nucleotide variant PDE1C-related disorder [RCV003962881]|not provided [RCV000971541] Chr7:31775720 [GRCh38]
Chr7:31815334 [GRCh37]
Chr7:7p14.3
benign|likely benign
NM_001191057.4(PDE1C):c.1979G>A (p.Arg660His) single nucleotide variant not provided [RCV000881379] Chr7:31753535 [GRCh38]
Chr7:31793149 [GRCh37]
Chr7:7p14.3
benign
GRCh37/hg19 7p15.3-14.3(chr7:23877135-33139446)x1 copy number loss not provided [RCV001005924] Chr7:23877135..33139446 [GRCh37]
Chr7:7p15.3-14.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_001191057.4(PDE1C):c.1866C>T (p.Ile622=) single nucleotide variant not provided [RCV000916302] Chr7:31809056 [GRCh38]
Chr7:31848670 [GRCh37]
Chr7:7p14.3
likely benign
NM_001191057.4(PDE1C):c.366C>T (p.Asp122=) single nucleotide variant PDE1C-related disorder [RCV003958088]|not provided [RCV000898007] Chr7:31879055 [GRCh38]
Chr7:31918668 [GRCh37]
Chr7:7p14.3
benign
NM_001191057.4(PDE1C):c.525C>T (p.Ser175=) single nucleotide variant Hearing loss, autosomal dominant 74 [RCV002501370]|not provided [RCV000880200] Chr7:31873376 [GRCh38]
Chr7:31912989 [GRCh37]
Chr7:7p14.3
benign|likely benign
GRCh37/hg19 7p14.3(chr7:31681764-31921749)x3 copy number gain not provided [RCV000847144] Chr7:31681764..31921749 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.2551C>T (p.Leu851Phe) single nucleotide variant not specified [RCV004316717] Chr7:31643921 [GRCh38]
Chr7:31683535 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.1843G>A (p.Asp615Asn) single nucleotide variant not specified [RCV004291214] Chr7:31809079 [GRCh38]
Chr7:31848693 [GRCh37]
Chr7:7p14.3
uncertain significance
GRCh37/hg19 7p15.1-14.3(chr7:28487175-32037495)x3 copy number gain not provided [RCV001005926] Chr7:28487175..32037495 [GRCh37]
Chr7:7p15.1-14.3
likely pathogenic
NM_001191058.4(PDE1C):c.86-6_86-5dup duplication not provided [RCV001635721] Chr7:32209543..32209544 [GRCh38]
Chr7:32249155..32249156 [GRCh37]
Chr7:7p14.3
benign
NM_001322059.2(PDE1C):c.311-90006A>G single nucleotide variant not provided [RCV001534181] Chr7:32299545 [GRCh38]
Chr7:32339157 [GRCh37]
Chr7:7p14.3
benign
NM_005020.5(PDE1C):c.-3+316C>A single nucleotide variant not provided [RCV001692497] Chr7:32070890 [GRCh38]
Chr7:32110502 [GRCh37]
Chr7:7p14.3
benign
NM_001191057.4(PDE1C):c.1813+118T>C single nucleotide variant not provided [RCV001597966] Chr7:31815806 [GRCh38]
Chr7:31855420 [GRCh37]
Chr7:7p14.3
benign
NM_001191057.4(PDE1C):c.1203+28A>G single nucleotide variant Hearing loss, autosomal dominant 74 [RCV001788831]|not provided [RCV001721567] Chr7:31837152 [GRCh38]
Chr7:31876766 [GRCh37]
Chr7:7p14.3
benign
NM_001191057.4(PDE1C):c.1204-77C>T single nucleotide variant not provided [RCV001654320] Chr7:31828450 [GRCh38]
Chr7:31868064 [GRCh37]
Chr7:7p14.3
benign
NM_001191057.4(PDE1C):c.1892-14749T>C single nucleotide variant not provided [RCV001682119] Chr7:31790481 [GRCh38]
Chr7:31830095 [GRCh37]
Chr7:7p14.3
benign
NM_001191057.4(PDE1C):c.1203+234del deletion not provided [RCV001685874] Chr7:31836946 [GRCh38]
Chr7:31876560 [GRCh37]
Chr7:7p14.3
benign
NM_001322059.2(PDE1C):c.311-89186C>T single nucleotide variant not provided [RCV001656959] Chr7:32298725 [GRCh38]
Chr7:32338337 [GRCh37]
Chr7:7p14.3
benign
NM_001191058.4(PDE1C):c.308+204T>C single nucleotide variant not provided [RCV001657052] Chr7:32169581 [GRCh38]
Chr7:32209193 [GRCh37]
Chr7:7p14.3
benign
NM_001191057.4(PDE1C):c.750+213C>T single nucleotide variant not provided [RCV001678017] Chr7:31864729 [GRCh38]
Chr7:31904343 [GRCh37]
Chr7:7p14.3
benign
NM_001191057.4(PDE1C):c.1953G>C (p.Thr651=) single nucleotide variant not provided [RCV000952920] Chr7:31775671 [GRCh38]
Chr7:31815285 [GRCh37]
Chr7:7p14.3
benign
NM_001191057.4(PDE1C):c.1726G>C (p.Val576Leu) single nucleotide variant PDE1C-related disorder [RCV003903246]|not provided [RCV000953738] Chr7:31816011 [GRCh38]
Chr7:31855625 [GRCh37]
Chr7:7p14.3
benign|likely benign
NM_001191058.4(PDE1C):c.160T>A (p.Trp54Arg) single nucleotide variant not provided [RCV000956473] Chr7:32169933 [GRCh38]
Chr7:32209545 [GRCh37]
Chr7:7p14.3
likely benign
NM_001191057.4(PDE1C):c.1407-161C>T single nucleotide variant not provided [RCV001595367] Chr7:31823409 [GRCh38]
Chr7:31863023 [GRCh37]
Chr7:7p14.3
benign
NM_001191057.4(PDE1C):c.243-88G>A single nucleotide variant not provided [RCV001689286] Chr7:31879266 [GRCh38]
Chr7:31918879 [GRCh37]
Chr7:7p14.3
benign
NM_001191057.4(PDE1C):c.1083-7T>C single nucleotide variant Hearing loss, autosomal dominant 74 [RCV004821423] Chr7:31837307 [GRCh38]
Chr7:31876921 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001322059.2(PDE1C):c.311-89951A>G single nucleotide variant not provided [RCV001716315] Chr7:32299490 [GRCh38]
Chr7:32339102 [GRCh37]
Chr7:7p14.3
benign
NM_001322059.2(PDE1C):c.471G>A (p.Glu157=) single nucleotide variant Hearing loss, autosomal dominant 74 [RCV001788701]|not provided [RCV001657605] Chr7:32169847 [GRCh38]
Chr7:32209459 [GRCh37]
Chr7:7p14.3
benign
NM_001191057.4(PDE1C):c.1782C>T (p.Ala594=) single nucleotide variant Hearing loss, autosomal dominant 74 [RCV001788641]|not provided [RCV001621638] Chr7:31815955 [GRCh38]
Chr7:31855569 [GRCh37]
Chr7:7p14.3
benign
NM_001191058.4(PDE1C):c.308+21A>G single nucleotide variant not provided [RCV001616134] Chr7:32169764 [GRCh38]
Chr7:32209376 [GRCh37]
Chr7:7p14.3
benign
NM_001191058.4(PDE1C):c.308+38T>C single nucleotide variant not provided [RCV001710723] Chr7:32169747 [GRCh38]
Chr7:32209359 [GRCh37]
Chr7:7p14.3
benign
NM_001191057.4(PDE1C):c.1407-39A>G single nucleotide variant not provided [RCV001598241] Chr7:31823287 [GRCh38]
Chr7:31862901 [GRCh37]
Chr7:7p14.3
benign
NM_001191057.4(PDE1C):c.129-101T>C single nucleotide variant not provided [RCV001594691] Chr7:31880961 [GRCh38]
Chr7:31920574 [GRCh37]
Chr7:7p14.3
benign
NM_001191057.4(PDE1C):c.1773C>T (p.Asn591=) single nucleotide variant Hearing loss, autosomal dominant 74 [RCV001788631]|not provided [RCV001617243] Chr7:31815964 [GRCh38]
Chr7:31855578 [GRCh37]
Chr7:7p14.3
benign
NM_001191057.4(PDE1C):c.1203+232A>G single nucleotide variant not provided [RCV001638567] Chr7:31836948 [GRCh38]
Chr7:31876562 [GRCh37]
Chr7:7p14.3
benign
NM_001191058.4(PDE1C):c.308+170T>G single nucleotide variant not provided [RCV001616763] Chr7:32169615 [GRCh38]
Chr7:32209227 [GRCh37]
Chr7:7p14.3
benign
NM_001191057.4(PDE1C):c.1814-41A>G single nucleotide variant not provided [RCV001681884] Chr7:31809149 [GRCh38]
Chr7:31848763 [GRCh37]
Chr7:7p14.3
benign
NM_001191057.4(PDE1C):c.609+112G>A single nucleotide variant not provided [RCV001695148] Chr7:31873180 [GRCh38]
Chr7:31912793 [GRCh37]
Chr7:7p14.3
benign
NM_001191058.4(PDE1C):c.86-201T>C single nucleotide variant not provided [RCV001690196] Chr7:32209740 [GRCh38]
Chr7:32249352 [GRCh37]
Chr7:7p14.3
benign
NM_001191057.4(PDE1C):c.1813+143T>C single nucleotide variant not provided [RCV001708536] Chr7:31815781 [GRCh38]
Chr7:31855395 [GRCh37]
Chr7:7p14.3
benign
NM_001191058.4(PDE1C):c.308+114A>G single nucleotide variant not provided [RCV001725442] Chr7:32169671 [GRCh38]
Chr7:32209283 [GRCh37]
Chr7:7p14.3
benign
NM_001191057.4(PDE1C):c.102-23T>A single nucleotide variant not provided [RCV001683812] Chr7:32051603 [GRCh38]
Chr7:32091215 [GRCh37]
Chr7:7p14.3
benign
NM_005020.5(PDE1C):c.-3+304C>G single nucleotide variant not provided [RCV001648766] Chr7:32070902 [GRCh38]
Chr7:32110514 [GRCh37]
Chr7:7p14.3
benign
NM_001191057.4(PDE1C):c.425+157A>G single nucleotide variant not provided [RCV001539055] Chr7:31878839 [GRCh38]
Chr7:31918452 [GRCh37]
Chr7:7p14.3
benign
NM_001191057.4(PDE1C):c.496G>A (p.Val166Met) single nucleotide variant not provided [RCV001354204]|not specified [RCV004837801] Chr7:31873405 [GRCh38]
Chr7:31913018 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.1166G>A (p.Arg389His) single nucleotide variant not provided [RCV001357790] Chr7:31837217 [GRCh38]
Chr7:31876831 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191058.4(PDE1C):c.136+191C>A single nucleotide variant not provided [RCV001540316] Chr7:32209298 [GRCh38]
Chr7:32248910 [GRCh37]
Chr7:7p14.3
benign
NM_001191057.4(PDE1C):c.207C>T (p.Ala69=) single nucleotide variant not provided [RCV001684891] Chr7:31880782 [GRCh38]
Chr7:31920395 [GRCh37]
Chr7:7p14.3
benign
NM_001191057.4(PDE1C):c.1582+113C>T single nucleotide variant not provided [RCV001651803] Chr7:31822960 [GRCh38]
Chr7:31862574 [GRCh37]
Chr7:7p14.3
benign
NM_001191058.4(PDE1C):c.136+117C>T single nucleotide variant not provided [RCV001675193] Chr7:32209372 [GRCh38]
Chr7:32248984 [GRCh37]
Chr7:7p14.3
benign
NM_001191057.4(PDE1C):c.1583-203_1583-200del deletion not provided [RCV001527810] Chr7:31816354..31816357 [GRCh38]
Chr7:31855968..31855971 [GRCh37]
Chr7:7p14.3
benign
NM_001191058.4(PDE1C):c.-501T>A single nucleotide variant not provided [RCV001617345] Chr7:32299236 [GRCh38]
Chr7:32338848 [GRCh37]
Chr7:7p14.3
benign
NM_001191057.4(PDE1C):c.1082+223C>T single nucleotide variant not provided [RCV001708333] Chr7:31837647 [GRCh38]
Chr7:31877261 [GRCh37]
Chr7:7p14.3
benign
NM_001191057.3(PDE1C):c.-110G>C single nucleotide variant not provided [RCV001694216] Chr7:32070503 [GRCh38]
Chr7:32110115 [GRCh37]
Chr7:7p14.3
benign
GRCh37/hg19 7p14.3(chr7:31767170-32037495)x3 copy number gain not provided [RCV001834397] Chr7:31767170..32037495 [GRCh37]
Chr7:7p14.3
uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_001191057.4(PDE1C):c.1076C>T (p.Pro359Leu) single nucleotide variant not provided [RCV002021651] Chr7:31837876 [GRCh38]
Chr7:31877490 [GRCh37]
Chr7:7p14.3
uncertain significance
GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167) copy number gain not specified [RCV002053668] Chr7:10745750..35305167 [GRCh37]
Chr7:7p21.3-14.2
likely pathogenic
GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473) copy number gain not specified [RCV002053677] Chr7:27507832..39072473 [GRCh37]
Chr7:7p15.2-14.1
likely pathogenic
NM_001191057.4(PDE1C):c.586del (p.Tyr196fs) deletion not provided [RCV002263436] Chr7:31873315 [GRCh38]
Chr7:31912928 [GRCh37]
Chr7:7p14.3
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3
uncertain significance
NM_001191057.4(PDE1C):c.1513A>G (p.Ser505Gly) single nucleotide variant PDE1C-related disorder [RCV003971233]|not provided [RCV002293170] Chr7:31823142 [GRCh38]
Chr7:31862756 [GRCh37]
Chr7:7p14.3
benign
GRCh37/hg19 7p15.3-14.3(chr7:25451740-33864069) copy number loss Cyclical vomiting syndrome [RCV002280775] Chr7:25451740..33864069 [GRCh37]
Chr7:7p15.3-14.3
pathogenic
NM_001191057.4(PDE1C):c.450G>C (p.Met150Ile) single nucleotide variant not specified [RCV004307701] Chr7:31878012 [GRCh38]
Chr7:31917625 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.1900C>T (p.Gln634Ter) single nucleotide variant Hearing loss, autosomal dominant 74 [RCV004585125] Chr7:31775724 [GRCh38]
Chr7:31815338 [GRCh37]
Chr7:7p14.3
likely pathogenic
NM_001191057.4(PDE1C):c.2061C>A (p.Tyr687Ter) single nucleotide variant Hearing loss, autosomal dominant 74 [RCV004585126] Chr7:31753453 [GRCh38]
Chr7:31793067 [GRCh37]
Chr7:7p14.3
likely pathogenic
NM_001191057.4(PDE1C):c.1739G>A (p.Arg580Gln) single nucleotide variant not specified [RCV004167181] Chr7:31815998 [GRCh38]
Chr7:31855612 [GRCh37]
Chr7:7p14.3
uncertain significance
GRCh37/hg19 7p14.3(chr7:32135921-32690094)x3 copy number gain not provided [RCV002473610] Chr7:32135921..32690094 [GRCh37]
Chr7:7p14.3
uncertain significance
GRCh37/hg19 7p15.2-14.3(chr7:27133786-34466477)x1 copy number loss not provided [RCV002475752] Chr7:27133786..34466477 [GRCh37]
Chr7:7p15.2-14.3
pathogenic
NM_001191057.4(PDE1C):c.1738C>T (p.Arg580Trp) single nucleotide variant not specified [RCV004127710] Chr7:31815999 [GRCh38]
Chr7:31855613 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.1855C>T (p.His619Tyr) single nucleotide variant not specified [RCV004087897] Chr7:31809067 [GRCh38]
Chr7:31848681 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.137C>A (p.Ser46Tyr) single nucleotide variant not specified [RCV004175349] Chr7:31880852 [GRCh38]
Chr7:31920465 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006658.5(PPP1R17):c.63C>A (p.Asp21Glu) single nucleotide variant not specified [RCV004090220] Chr7:31692504 [GRCh38]
Chr7:31732118 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.172G>C (p.Val58Leu) single nucleotide variant not specified [RCV004213066] Chr7:31880817 [GRCh38]
Chr7:31920430 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191058.4(PDE1C):c.264G>T (p.Leu88Phe) single nucleotide variant not specified [RCV004233770] Chr7:32169829 [GRCh38]
Chr7:32209441 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.771G>C (p.Glu257Asp) single nucleotide variant not specified [RCV004171695] Chr7:31850721 [GRCh38]
Chr7:31890335 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.1654G>A (p.Ala552Thr) single nucleotide variant not specified [RCV004241224] Chr7:31816083 [GRCh38]
Chr7:31855697 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006658.5(PPP1R17):c.186A>C (p.Lys62Asn) single nucleotide variant not specified [RCV004247069] Chr7:31695572 [GRCh38]
Chr7:31735186 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191058.4(PDE1C):c.259G>C (p.Glu87Gln) single nucleotide variant not specified [RCV004107149] Chr7:32169834 [GRCh38]
Chr7:32209446 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.1886C>T (p.Thr629Ile) single nucleotide variant not specified [RCV004128353] Chr7:31809036 [GRCh38]
Chr7:31848650 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.1106C>G (p.Ser369Cys) single nucleotide variant not specified [RCV004121656] Chr7:31837277 [GRCh38]
Chr7:31876891 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006658.5(PPP1R17):c.303C>G (p.Ile101Met) single nucleotide variant not specified [RCV004123129] Chr7:31697032 [GRCh38]
Chr7:31736646 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191058.4(PDE1C):c.228C>A (p.Asp76Glu) single nucleotide variant not specified [RCV004080478] Chr7:32169865 [GRCh38]
Chr7:32209477 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006658.5(PPP1R17):c.233C>T (p.Pro78Leu) single nucleotide variant not specified [RCV004177758] Chr7:31695619 [GRCh38]
Chr7:31735233 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.1504A>C (p.Met502Leu) single nucleotide variant not specified [RCV004274774] Chr7:31642874 [GRCh38]
Chr7:31682488 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.1586C>T (p.Thr529Met) single nucleotide variant not specified [RCV004257935] Chr7:31642956 [GRCh38]
Chr7:31682570 [GRCh37]
Chr7:7p14.3
likely benign
NM_001257967.3(ITPRID1):c.3083C>A (p.Thr1028Asn) single nucleotide variant not specified [RCV004257871] Chr7:31652777 [GRCh38]
Chr7:31692391 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.1511A>G (p.Glu504Gly) single nucleotide variant not specified [RCV004326050] Chr7:31642881 [GRCh38]
Chr7:31682495 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006658.5(PPP1R17):c.50T>C (p.Leu17Pro) single nucleotide variant not specified [RCV004319639] Chr7:31692491 [GRCh38]
Chr7:31732105 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.2792G>A (p.Arg931Gln) single nucleotide variant not specified [RCV004337878] Chr7:31652019 [GRCh38]
Chr7:31691633 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001322059.2(PDE1C):c.311-89184G>C single nucleotide variant not provided [RCV003436710] Chr7:32298723 [GRCh38]
Chr7:32338335 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.1071G>T (p.Gln357His) single nucleotide variant Hearing loss, autosomal dominant 74 [RCV003444466] Chr7:31837881 [GRCh38]
Chr7:31877495 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.133C>T (p.Arg45Trp) single nucleotide variant not specified [RCV004334833] Chr7:31880856 [GRCh38]
Chr7:31920469 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.2873A>C (p.His958Pro) single nucleotide variant not specified [RCV004336939] Chr7:31652567 [GRCh38]
Chr7:31692181 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.1835A>G (p.Asn612Ser) single nucleotide variant PDE1C-related disorder [RCV003391381] Chr7:31809087 [GRCh38]
Chr7:31848701 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.1941G>A (p.Thr647=) single nucleotide variant not provided [RCV003436708] Chr7:31775683 [GRCh38]
Chr7:31815297 [GRCh37]
Chr7:7p14.3
likely benign
NM_001191057.4(PDE1C):c.1759C>A (p.Pro587Thr) single nucleotide variant PDE1C-related disorder [RCV003400091] Chr7:31815978 [GRCh38]
Chr7:31855592 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001322059.2(PDE1C):c.8C>T (p.Ser3Leu) single nucleotide variant PDE1C-related disorder [RCV003419077] Chr7:32428124 [GRCh38]
Chr7:32467736 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001322059.2(PDE1C):c.259C>A (p.Arg87Ser) single nucleotide variant PDE1C-related disorder [RCV003399831] Chr7:32427873 [GRCh38]
Chr7:32467485 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.1774T>G (p.Ser592Ala) single nucleotide variant PDE1C-related disorder [RCV003939017]|not provided [RCV003433756] Chr7:31815963 [GRCh38]
Chr7:31855577 [GRCh37]
Chr7:7p14.3
benign|likely benign
NM_001191057.4(PDE1C):c.1615G>T (p.Ala539Ser) single nucleotide variant PDE1C-related disorder [RCV003414541] Chr7:31816122 [GRCh38]
Chr7:31855736 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.1677C>T (p.Gly559=) single nucleotide variant PDE1C-related disorder [RCV003901073]|not provided [RCV003436709] Chr7:31816060 [GRCh38]
Chr7:31855674 [GRCh37]
Chr7:7p14.3
benign|likely benign
GRCh37/hg19 7p14.3(chr7:28940557-31806164)x3 copy number gain not specified [RCV003986729] Chr7:28940557..31806164 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006658.5(PPP1R17):c.401T>C (p.Leu134Pro) single nucleotide variant not specified [RCV004509846] Chr7:31707216 [GRCh38]
Chr7:31746830 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.1495A>G (p.Ile499Val) single nucleotide variant PDE1C-related disorder [RCV003979158] Chr7:31823160 [GRCh38]
Chr7:31862774 [GRCh37]
Chr7:7p14.3
likely benign
NM_001191057.4(PDE1C):c.2001C>T (p.Tyr667=) single nucleotide variant PDE1C-related disorder [RCV003967042] Chr7:31753513 [GRCh38]
Chr7:31793127 [GRCh37]
Chr7:7p14.3
likely benign
NM_006658.5(PPP1R17):c.427G>A (p.Val143Met) single nucleotide variant not specified [RCV004509847] Chr7:31707242 [GRCh38]
Chr7:31746856 [GRCh37]
Chr7:7p14.3
likely benign
NM_001191058.4(PDE1C):c.86-5dup duplication PDE1C-related disorder [RCV003981965] Chr7:32209543..32209544 [GRCh38]
Chr7:32249155..32249156 [GRCh37]
Chr7:7p14.3
benign
NM_001191057.4(PDE1C):c.696C>T (p.His232=) single nucleotide variant PDE1C-related disorder [RCV003981343] Chr7:31864996 [GRCh38]
Chr7:31904610 [GRCh37]
Chr7:7p14.3
benign
NM_001191057.4(PDE1C):c.345G>T (p.Gly115=) single nucleotide variant PDE1C-related disorder [RCV003927348] Chr7:31879076 [GRCh38]
Chr7:31918689 [GRCh37]
Chr7:7p14.3
benign
NM_001191057.4(PDE1C):c.708T>C (p.Val236=) single nucleotide variant PDE1C-related disorder [RCV003911519] Chr7:31864984 [GRCh38]
Chr7:31904598 [GRCh37]
Chr7:7p14.3
benign
NM_001191058.4(PDE1C):c.127C>T (p.Arg43Cys) single nucleotide variant PDE1C-related disorder [RCV003941861] Chr7:32209498 [GRCh38]
Chr7:32249110 [GRCh37]
Chr7:7p14.3
likely benign
NM_001191057.4(PDE1C):c.-3G>A single nucleotide variant PDE1C-related disorder [RCV003919398] Chr7:32070396 [GRCh38]
Chr7:32110008 [GRCh37]
Chr7:7p14.3
benign
NM_001191057.4(PDE1C):c.375C>G (p.Pro125=) single nucleotide variant PDE1C-related disorder [RCV003959109] Chr7:31879046 [GRCh38]
Chr7:31918659 [GRCh37]
Chr7:7p14.3
likely benign
NM_001322059.2(PDE1C):c.224A>T (p.Lys75Met) single nucleotide variant PDE1C-related disorder [RCV003951941] Chr7:32427908 [GRCh38]
Chr7:32467520 [GRCh37]
Chr7:7p14.3
likely benign
NM_001191057.4(PDE1C):c.2071G>A (p.Asp691Asn) single nucleotide variant PDE1C-related disorder [RCV003901820] Chr7:31753443 [GRCh38]
Chr7:31793057 [GRCh37]
Chr7:7p14.3
likely benign
NM_001191057.4(PDE1C):c.1912G>A (p.Gly638Ser) single nucleotide variant PDE1C-related disorder [RCV003921923] Chr7:31775712 [GRCh38]
Chr7:31815326 [GRCh37]
Chr7:7p14.3
benign
NM_001191057.4(PDE1C):c.1285+4C>T single nucleotide variant PDE1C-related disorder [RCV003922049] Chr7:31828288 [GRCh38]
Chr7:31867902 [GRCh37]
Chr7:7p14.3
likely benign
NM_001257967.3(ITPRID1):c.1373A>T (p.Gln458Leu) single nucleotide variant not specified [RCV004398685] Chr7:31642743 [GRCh38]
Chr7:31682357 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.1399G>A (p.Asp467Asn) single nucleotide variant not specified [RCV004398686] Chr7:31642769 [GRCh38]
Chr7:31682383 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.2424C>G (p.Cys808Trp) single nucleotide variant not specified [RCV004398700] Chr7:31643794 [GRCh38]
Chr7:31683408 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.2666T>C (p.Met889Thr) single nucleotide variant not specified [RCV004398704] Chr7:31651224 [GRCh38]
Chr7:31690838 [GRCh37]
Chr7:7p14.3
likely benign
NM_001257967.3(ITPRID1):c.2884T>C (p.Trp962Arg) single nucleotide variant not specified [RCV004398706] Chr7:31652578 [GRCh38]
Chr7:31692192 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.3049C>T (p.Pro1017Ser) single nucleotide variant not specified [RCV004398707] Chr7:31652743 [GRCh38]
Chr7:31692357 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.559T>G (p.Phe187Val) single nucleotide variant not specified [RCV004503066] Chr7:31873342 [GRCh38]
Chr7:31912955 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.2138C>T (p.Ser713Phe) single nucleotide variant not specified [RCV004398696] Chr7:31643508 [GRCh38]
Chr7:31683122 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.2588C>A (p.Thr863Lys) single nucleotide variant not specified [RCV004398703] Chr7:31651146 [GRCh38]
Chr7:31690760 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.1536G>T (p.Glu512Asp) single nucleotide variant not specified [RCV004398689] Chr7:31642906 [GRCh38]
Chr7:31682520 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.1943A>T (p.Glu648Val) single nucleotide variant not specified [RCV004398695] Chr7:31643313 [GRCh38]
Chr7:31682927 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.1352G>A (p.Gly451Glu) single nucleotide variant not specified [RCV004398684] Chr7:31642722 [GRCh38]
Chr7:31682336 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.1903G>A (p.Val635Ile) single nucleotide variant not specified [RCV004398692] Chr7:31643273 [GRCh38]
Chr7:31682887 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.1930C>T (p.Pro644Ser) single nucleotide variant not specified [RCV004398694] Chr7:31643300 [GRCh38]
Chr7:31682914 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.134G>A (p.Arg45Gln) single nucleotide variant EBV-positive nodal T- and NK-cell lymphoma [RCV004557876]|Hearing loss, autosomal dominant 74 [RCV004821334] Chr7:31880855 [GRCh38]
Chr7:31920468 [GRCh37]
Chr7:7p14.3
likely benign|uncertain significance
NM_001257967.3(ITPRID1):c.1442C>T (p.Ala481Val) single nucleotide variant not specified [RCV004398687] Chr7:31642812 [GRCh38]
Chr7:31682426 [GRCh37]
Chr7:7p14.3
likely benign
NM_001257967.3(ITPRID1):c.1832A>G (p.His611Arg) single nucleotide variant not specified [RCV004398690] Chr7:31643202 [GRCh38]
Chr7:31682816 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.1857A>C (p.Glu619Asp) single nucleotide variant not specified [RCV004398691] Chr7:31643227 [GRCh38]
Chr7:31682841 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.1910A>G (p.Glu637Gly) single nucleotide variant not specified [RCV004398693] Chr7:31643280 [GRCh38]
Chr7:31682894 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.2252G>T (p.Gly751Val) single nucleotide variant not specified [RCV004398697] Chr7:31643622 [GRCh38]
Chr7:31683236 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.2332C>A (p.Pro778Thr) single nucleotide variant not specified [RCV004398699] Chr7:31643702 [GRCh38]
Chr7:31683316 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.2447A>G (p.His816Arg) single nucleotide variant not specified [RCV004398701] Chr7:31643817 [GRCh38]
Chr7:31683431 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.3107G>T (p.Gly1036Val) single nucleotide variant not specified [RCV004398708] Chr7:31652801 [GRCh38]
Chr7:31692415 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.882A>C (p.Arg294Ser) single nucleotide variant not specified [RCV004503061] Chr7:31848066 [GRCh38]
Chr7:31887680 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.1459G>A (p.Gly487Ser) single nucleotide variant not specified [RCV004503062] Chr7:31823196 [GRCh38]
Chr7:31862810 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.1570A>G (p.Lys524Glu) single nucleotide variant not specified [RCV004503063] Chr7:31823085 [GRCh38]
Chr7:31862699 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.1661G>A (p.Ser554Asn) single nucleotide variant not specified [RCV004503064] Chr7:31816076 [GRCh38]
Chr7:31855690 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.1888G>T (p.Asp630Tyr) single nucleotide variant not specified [RCV004503065] Chr7:31809034 [GRCh38]
Chr7:31848648 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.1280A>G (p.Gln427Arg) single nucleotide variant not specified [RCV004659648] Chr7:31828297 [GRCh38]
Chr7:31867911 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.1174A>C (p.Met392Leu) single nucleotide variant not specified [RCV004659647] Chr7:31837209 [GRCh38]
Chr7:31876823 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006658.5(PPP1R17):c.259A>G (p.Lys87Glu) single nucleotide variant not specified [RCV004664914] Chr7:31696988 [GRCh38]
Chr7:31736602 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006658.5(PPP1R17):c.438C>A (p.Asp146Glu) single nucleotide variant not specified [RCV004656232] Chr7:31707253 [GRCh38]
Chr7:31746867 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006658.5(PPP1R17):c.53A>G (p.Asp18Gly) single nucleotide variant not specified [RCV004656233] Chr7:31692494 [GRCh38]
Chr7:31732108 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006658.5(PPP1R17):c.358C>T (p.Pro120Ser) single nucleotide variant not specified [RCV004656234] Chr7:31697087 [GRCh38]
Chr7:31736701 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.2019T>A (p.Asp673Glu) single nucleotide variant not specified [RCV004633636] Chr7:31643389 [GRCh38]
Chr7:31683003 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.1759C>T (p.Pro587Ser) single nucleotide variant not specified [RCV004659646] Chr7:31815978 [GRCh38]
Chr7:31855592 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.1339G>A (p.Glu447Lys) single nucleotide variant not specified [RCV004653491] Chr7:31824934 [GRCh38]
Chr7:31864548 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.1508A>G (p.Tyr503Cys) single nucleotide variant not specified [RCV004653492] Chr7:31823147 [GRCh38]
Chr7:31862761 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.2834T>G (p.Val945Gly) single nucleotide variant not specified [RCV004626501] Chr7:31652528 [GRCh38]
Chr7:31692142 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.1289C>T (p.Pro430Leu) single nucleotide variant not specified [RCV004633633] Chr7:31642236 [GRCh38]
Chr7:31681850 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.2718G>T (p.Glu906Asp) single nucleotide variant not specified [RCV004633637] Chr7:31651945 [GRCh38]
Chr7:31691559 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.1714A>T (p.Thr572Ser) single nucleotide variant PDE1C-related disorder [RCV004752168] Chr7:31816023 [GRCh38]
Chr7:31855637 [GRCh37]
Chr7:7p14.3
likely benign
NM_001191057.4(PDE1C):c.334C>T (p.Arg112Trp) single nucleotide variant PDE1C-related disorder [RCV004752259] Chr7:31879087 [GRCh38]
Chr7:31918700 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.75del (p.Ile27fs) deletion PDE1C-related disorder [RCV004730656] Chr7:32070319 [GRCh38]
Chr7:32109931 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.2075A>G (p.Gln692Arg) single nucleotide variant PDE1C-related disorder [RCV004751160] Chr7:31753439 [GRCh38]
Chr7:31793053 [GRCh37]
Chr7:7p14.3
likely benign
NM_001191057.4(PDE1C):c.1364A>G (p.Asp455Gly) single nucleotide variant not specified [RCV004839529] Chr7:31824909 [GRCh38]
Chr7:31864523 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.396C>G (p.His132Gln) single nucleotide variant not specified [RCV004839526] Chr7:31879025 [GRCh38]
Chr7:31918638 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.1864A>G (p.Ile622Val) single nucleotide variant not specified [RCV004839525] Chr7:31809058 [GRCh38]
Chr7:31848672 [GRCh37]
Chr7:7p14.3
likely benign
NM_001191057.4(PDE1C):c.1669G>A (p.Glu557Lys) single nucleotide variant not specified [RCV004839527] Chr7:31816068 [GRCh38]
Chr7:31855682 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.697G>A (p.Ala233Thr) single nucleotide variant not specified [RCV004839528] Chr7:31864995 [GRCh38]
Chr7:31904609 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.1154A>G (p.Asp385Gly) single nucleotide variant not specified [RCV004839530] Chr7:31837229 [GRCh38]
Chr7:31876843 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.652G>T (p.Val218Leu) single nucleotide variant not specified [RCV004839531] Chr7:31865040 [GRCh38]
Chr7:31904654 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.884C>A (p.Ser295Tyr) single nucleotide variant not specified [RCV004839532] Chr7:31848064 [GRCh38]
Chr7:31887678 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006658.5(PPP1R17):c.140G>A (p.Gly47Glu) single nucleotide variant not specified [RCV004848679] Chr7:31695526 [GRCh38]
Chr7:31735140 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006658.5(PPP1R17):c.310C>A (p.Leu104Ile) single nucleotide variant not specified [RCV004848681] Chr7:31697039 [GRCh38]
Chr7:31736653 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006658.5(PPP1R17):c.374C>T (p.Ser125Phe) single nucleotide variant not specified [RCV004848682] Chr7:31697103 [GRCh38]
Chr7:31736717 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006658.5(PPP1R17):c.109G>A (p.Asp37Asn) single nucleotide variant not specified [RCV004848680] Chr7:31695495 [GRCh38]
Chr7:31735109 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.1377C>A (p.Ser459Arg) single nucleotide variant not specified [RCV004934615] Chr7:31642747 [GRCh38]
Chr7:31682361 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.2689A>G (p.Arg897Gly) single nucleotide variant not specified [RCV004934606] Chr7:31651247 [GRCh38]
Chr7:31690861 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.1301T>G (p.Leu434Arg) single nucleotide variant not specified [RCV004934607] Chr7:31642248 [GRCh38]
Chr7:31681862 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.1337G>T (p.Ser446Ile) single nucleotide variant not specified [RCV004934610] Chr7:31642707 [GRCh38]
Chr7:31682321 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.1298C>A (p.Pro433Gln) single nucleotide variant not specified [RCV004934616] Chr7:31642245 [GRCh38]
Chr7:31681859 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.1490C>A (p.Ala497Asp) single nucleotide variant not specified [RCV004934619] Chr7:31642860 [GRCh38]
Chr7:31682474 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001191057.4(PDE1C):c.1703C>T (p.Thr568Met) single nucleotide variant not specified [RCV004848192] Chr7:31816034 [GRCh38]
Chr7:31855648 [GRCh37]
Chr7:7p14.3
likely benign
NM_001191057.4(PDE1C):c.1827T>G (p.Asp609Glu) single nucleotide variant not specified [RCV004848193] Chr7:31809095 [GRCh38]
Chr7:31848709 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.3012C>G (p.Phe1004Leu) single nucleotide variant not specified [RCV004934608] Chr7:31652706 [GRCh38]
Chr7:31692320 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.2363G>C (p.Gly788Ala) single nucleotide variant not specified [RCV004934609] Chr7:31643733 [GRCh38]
Chr7:31683347 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.2767G>A (p.Glu923Lys) single nucleotide variant not specified [RCV004934611] Chr7:31651994 [GRCh38]
Chr7:31691608 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.2774A>C (p.Glu925Ala) single nucleotide variant not specified [RCV004934614] Chr7:31652001 [GRCh38]
Chr7:31691615 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_001257967.3(ITPRID1):c.1684T>C (p.Tyr562His) single nucleotide variant not specified [RCV004934618] Chr7:31643054 [GRCh38]
Chr7:31682668 [GRCh37]
Chr7:7p14.3
uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:4385
Count of miRNA genes:1363
Interacting mature miRNAs:1801
Transcripts:ENST00000321453, ENST00000396182, ENST00000396184, ENST00000396189, ENST00000396191, ENST00000396193, ENST00000464881, ENST00000478736, ENST00000479980, ENST00000482681, ENST00000495221
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
597518749GWAS1614823_Hcolorectal cancer QTL GWAS1614823 (human)0.0000002colorectal cancer73234834932348350Human
597139858GWAS1235932_Hsmoking initiation QTL GWAS1235932 (human)3e-09smoking initiation73207388632073887Human
2289453BW297_HBody weight QTL 297 (human)3.83Body weightbody mass index72334946449349464Human
406986573GWAS635549_Hintelligence QTL GWAS635549 (human)0.000005intelligence73228288432282885Human
597143171GWAS1239245_Hsmoking initiation QTL GWAS1239245 (human)2e-10smoking initiation73207388632073887Human
597215631GWAS1311705_Hcigarettes per day measurement QTL GWAS1311705 (human)8e-27cigarettes per day measurement73229403032294031Human
597019789GWAS1115863_Hbody mass index QTL GWAS1115863 (human)3e-08body mass indexbody mass index (BMI) (CMO:0000105)73225095332250954Human
597166721GWAS1262795_Hdry eye syndrome QTL GWAS1262795 (human)0.000002dry eye syndrome73214406532144066Human
597465479GWAS1561553_Hself reported educational attainment QTL GWAS1561553 (human)1e-08self reported educational attainment73232891232328913Human
597373824GWAS1469898_Hfatty acid measurement QTL GWAS1469898 (human)0.000001fatty acid measurement73233713632337137Human
597296774GWAS1392848_Hbody mass index QTL GWAS1392848 (human)0.000008body mass indexbody mass index (BMI) (CMO:0000105)73230300632303007Human
597233540GWAS1329614_Habdominal fat cell number QTL GWAS1329614 (human)0.0000003abdominal fat cell number73198091331980914Human
597121970GWAS1218044_Hcognitive function measurement, self reported educational attainment QTL GWAS1218044 (human)2e-08cognitive function measurement, self reported educational attainment73229526832295269Human
597530293GWAS1626367_Hbody mass index QTL GWAS1626367 (human)6e-14body mass indexbody mass index (BMI) (CMO:0000105)73232953632329537Human
597381554GWAS1477628_Hbody mass index QTL GWAS1477628 (human)8e-14body mass indexbody mass index (BMI) (CMO:0000105)73230772332307724Human
597081530GWAS1177604_Hgut microbiome measurement QTL GWAS1177604 (human)0.0000002gut microbiome measurement73217458032174581Human
597244087GWAS1340161_Htrait in response to lamotrigine QTL GWAS1340161 (human)0.000002trait in response to lamotrigine73196361131963612Human
597231784GWAS1327858_Hsmoking cessation QTL GWAS1327858 (human)7e-17smoking cessation73227507832275079Human
597290666GWAS1386740_Hage at menarche QTL GWAS1386740 (human)4e-08age at menarche73221571032215711Human
597389228GWAS1485302_Hbody mass index QTL GWAS1485302 (human)3e-08body mass indexbody mass index (BMI) (CMO:0000105)73230567132305672Human
597083822GWAS1179896_Hwhite matter hyperintensity measurement QTL GWAS1179896 (human)0.000008white matter hyperintensity measurement73211950832119509Human
597325472GWAS1421546_HFEV/FVC ratio QTL GWAS1421546 (human)1e-09FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)73191793731917938Human
597226658GWAS1322732_Hbody mass index QTL GWAS1322732 (human)2e-10body mass indexbody mass index (BMI) (CMO:0000105)73229872532298726Human
597515943GWAS1612017_Hcigarettes per day measurement QTL GWAS1612017 (human)6e-34cigarettes per day measurement73231870132318702Human
597515942GWAS1612016_Hcigarettes per day measurement QTL GWAS1612016 (human)1e-33cigarettes per day measurement73231804732318048Human
597074858GWAS1170932_Hintelligence QTL GWAS1170932 (human)2e-10intelligence73228288432282885Human
597074859GWAS1170933_Hintelligence QTL GWAS1170933 (human)3e-10intelligence73229403032294031Human
597253287GWAS1349361_Hage at first sexual intercourse measurement QTL GWAS1349361 (human)4e-09age at first sexual intercourse measurement73222539532225396Human
597174748GWAS1270822_Hnon-alcoholic fatty liver disease, type 2 diabetes mellitus QTL GWAS1270822 (human)3e-08non-alcoholic fatty liver disease, type 2 diabetes mellitus73205837132058372Human
597469914GWAS1565988_Hprotein measurement QTL GWAS1565988 (human)3e-08protein measurement73233247332332474Human
597191135GWAS1287209_Hbody mass index QTL GWAS1287209 (human)1e-17body mass indexbody mass index (BMI) (CMO:0000105)73229872532298726Human
597230536GWAS1326610_Hself reported educational attainment QTL GWAS1326610 (human)6e-11self reported educational attainment73228288432282885Human
597281227GWAS1377301_Heducational attainment QTL GWAS1377301 (human)3e-23educational attainment73222345732223458Human
597194698GWAS1290772_Hnicotine dependence QTL GWAS1290772 (human)2e-18nicotine dependence73229403032294031Human
597033669GWAS1129743_Haspartate aminotransferase measurement QTL GWAS1129743 (human)0.0000003aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)73169564931695650Human
597281226GWAS1377300_Heducational attainment QTL GWAS1377300 (human)3e-08educational attainment73221001032210011Human
597514696GWAS1610770_Hbody mass index QTL GWAS1610770 (human)1e-09body mass indexbody mass index (BMI) (CMO:0000105)73235842932358430Human
597077440GWAS1173514_Hpsoriasis QTL GWAS1173514 (human)2e-11psoriasis73164283931642840Human
597160141GWAS1256215_Hlipid measurement QTL GWAS1256215 (human)0.000003lipid measurementblood lipid measurement (CMO:0000050)73227866632278667Human
597462470GWAS1558544_Hbody mass index QTL GWAS1558544 (human)3e-16body mass indexbody mass index (BMI) (CMO:0000105)73232953632329537Human
597050358GWAS1146432_Hendometriosis QTL GWAS1146432 (human)0.000009endometriosis73174514131745142Human
596953328GWAS1072847_Hbody mass index QTL GWAS1072847 (human)4e-09body mass index73232891232328913Human
597064446GWAS1160520_Hintelligence QTL GWAS1160520 (human)4e-08intelligence73225214932252150Human
597147903GWAS1243977_Hbody mass index QTL GWAS1243977 (human)2e-08body mass indexbody mass index (BMI) (CMO:0000105)73229735332297354Human
597506029GWAS1602103_Hsmoking initiation QTL GWAS1602103 (human)4e-13smoking initiation73235741432357415Human
597043943GWAS1140017_Hsmoking cessation QTL GWAS1140017 (human)4e-08smoking cessation73229051732290518Human
597332461GWAS1428535_Hcigarettes per day measurement QTL GWAS1428535 (human)5e-30cigarettes per day measurement73229403032294031Human
597226983GWAS1323057_Hsmoking cessation QTL GWAS1323057 (human)1e-08smoking cessation73227507832275079Human
597064470GWAS1160544_Hintelligence QTL GWAS1160544 (human)1e-10intelligence73225214932252150Human
596986388GWAS1105907_Hbody mass index QTL GWAS1105907 (human)1e-16body mass index73232891232328913Human
596961046GWAS1080565_Hmetabolic syndrome QTL GWAS1080565 (human)7e-16metabolic syndrome73233936732339368Human
597117715GWAS1213789_Hcognitive function measurement QTL GWAS1213789 (human)2e-12cognitive function measurement73225216232252163Human
406968772GWAS617748_Hreasoning QTL GWAS617748 (human)4e-08reasoning73228288432282885Human
597407248GWAS1503322_Hcoronary artery disease QTL GWAS1503322 (human)1e-08coronary artery disease73232953632329537Human
597371403GWAS1467477_HHVA measurement, MHPG measurement QTL GWAS1467477 (human)0.000001HVA measurement, MHPG measurement73242111232421113Human
596970759GWAS1090278_Hdry eye syndrome QTL GWAS1090278 (human)0.000002dry eye syndrome73214406532144066Human
597211658GWAS1307732_Hmathematical ability QTL GWAS1307732 (human)2e-10mathematical ability73225334932253350Human
597486094GWAS1582168_Hbody weight QTL GWAS1582168 (human)8e-12body mass (VT:0001259)body weight (CMO:0000012)73234240732342408Human
406943444GWAS592420_Hcoffee consumption measurement, tea consumption measurement QTL GWAS592420 (human)6e-10coffee consumption measurement, tea consumption measurementdrink intake measurement (CMO:0000771)73229430932294310Human
597057550GWAS1153624_Hchronotype measurement QTL GWAS1153624 (human)2e-10chronotype measurement73222184632221847Human
597031437GWAS1127511_Hcigarettes per day measurement QTL GWAS1127511 (human)1e-10cigarettes per day measurement73223349532233496Human
597453061GWAS1549135_Hbody fat percentage QTL GWAS1549135 (human)8e-15body fat mass (VT:0010482)body fat percentage (CMO:0000302)73233936732339368Human
597048588GWAS1144662_Hfemale reproductive system disease QTL GWAS1144662 (human)3e-09female reproductive system disease73174514131745142Human
597228293GWAS1324367_Hchronotype measurement QTL GWAS1324367 (human)8e-20chronotype measurement73222593332225934Human
407061214GWAS710190_Hchronotype measurement QTL GWAS710190 (human)2e-10chronotype measurement73225214932252150Human
597522178GWAS1618252_Hbody fat percentage QTL GWAS1618252 (human)3e-08body fat mass (VT:0010482)body fat percentage (CMO:0000302)73232048432320485Human
597082677GWAS1178751_Hgut microbiome measurement QTL GWAS1178751 (human)0.0000009gut microbiome measurement73177440631774407Human
597294653GWAS1390727_Hcardiac troponin I measurement QTL GWAS1390727 (human)0.000003cardiac troponin I measurementblood troponin level (CMO:0001283)73220742532207426Human
597206588GWAS1302662_Hmathematical ability QTL GWAS1302662 (human)1e-08mathematical ability73225334932253350Human
597115442GWAS1211516_Hself reported educational attainment QTL GWAS1211516 (human)9e-13self reported educational attainment73228288432282885Human
407022565GWAS671541_Hendometriosis QTL GWAS671541 (human)0.000001endometriosis73186441331864414Human
597463853GWAS1559927_Hsensory perception of sweet taste QTL GWAS1559927 (human)0.000007sensory perception of sweet taste73239163432391635Human
597445934GWAS1542008_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 GWAS1542008 (human)9e-10body fat mass (VT:0010482)blood high density lipoprotein cholesterol level (CMO:0000052)73233936732339368Human
597513518GWAS1609592_Hcigarettes per day measurement QTL GWAS1609592 (human)3e-08cigarettes per day measurement73235955432359555Human
596962593GWAS1082112_Hage at menarche QTL GWAS1082112 (human)4e-08age at menarche73221571032215711Human
597396259GWAS1492333_Hbody mass index QTL GWAS1492333 (human)3e-14body mass indexbody mass index (BMI) (CMO:0000105)73232953632329537Human
597379618GWAS1475692_Hsmooth surface dental caries QTL GWAS1475692 (human)0.000008smooth surface dental caries73240482332404824Human
597447201GWAS1543275_Hbody mass index QTL GWAS1543275 (human)1e-16body mass indexbody mass index (BMI) (CMO:0000105)73232891232328913Human
597240871GWAS1336945_Haging QTL GWAS1336945 (human)5e-09aging73168856631688567Human
597074217GWAS1170291_Hintelligence, self reported educational attainment QTL GWAS1170291 (human)3e-12intelligence, self reported educational attainment73229403032294031Human
407023490GWAS672466_Hantiphospholipid antibody measurement QTL GWAS672466 (human)0.000003antiphospholipid antibody measurement73214992832149929Human
597502301GWAS1598375_Hsmoking initiation QTL GWAS1598375 (human)1e-16smoking initiation73230772332307724Human
597297497GWAS1393571_Hcolorectal cancer QTL GWAS1393571 (human)0.000001colorectal cancer73210787932107880Human
597502302GWAS1598376_Hsmoking initiation QTL GWAS1598376 (human)2e-16smoking initiation73231219832312199Human
597423455GWAS1519529_Htriglyceride measurement QTL GWAS1519529 (human)0.000002triglyceride measurementblood triglyceride level (CMO:0000118)73233936732339368Human
597619800GWAS1676660_Hcorneal neovascularization QTL GWAS1676660 (human)4e-11corneal neovascularization73208059932080600Human
597384541GWAS1480615_Hbody mass index QTL GWAS1480615 (human)6e-09body mass indexbody mass index (BMI) (CMO:0000105)73241723432417235Human
597453398GWAS1549472_Hgastroesophageal reflux disease QTL GWAS1549472 (human)4e-11gastroesophageal reflux disease73230772332307724Human
597172820GWAS1268894_Hcigarettes per day measurement QTL GWAS1268894 (human)2e-21cigarettes per day measurement73229403032294031Human
597488460GWAS1584534_Hbody mass index QTL GWAS1584534 (human)6e-13body mass indexbody mass index (BMI) (CMO:0000105)73233936732339368Human
406951568GWAS600544_Hneuroticism measurement QTL GWAS600544 (human)0.000008neuroticism measurement73226076432260765Human
597030727GWAS1126801_Htobacco smoke exposure measurement QTL GWAS1126801 (human)3e-16tobacco smoke exposure measurement73223349532233496Human
597060163GWAS1156237_HFEV/FVC ratio QTL GWAS1156237 (human)2e-13FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)73191793731917938Human
406929556GWAS578532_Htriglyceride measurement QTL GWAS578532 (human)1e-08triglyceride measurementblood triglyceride level (CMO:0000118)73222276532222766Human
597226573GWAS1322647_Hcigarettes per day measurement QTL GWAS1322647 (human)4e-21cigarettes per day measurement73229403032294031Human
597157711GWAS1253785_HMoyamoya disease QTL GWAS1253785 (human)5e-08Moyamoya disease73195557831955579Human
597240899GWAS1336973_Heducational attainment QTL GWAS1336973 (human)3e-08educational attainment73228334932283350Human
597414215GWAS1510289_Hmetabolic syndrome QTL GWAS1510289 (human)7e-16metabolic syndrome73233936732339368Human
597618243GWAS1675103_HSplenomegaly QTL GWAS1675103 (human)3e-11Splenomegaly73224237832242379Human
597507136GWAS1603210_HThyroid preparation use measurement QTL GWAS1603210 (human)2e-08Thyroid preparation use measurement73232953632329537Human
597074248GWAS1170322_Hintelligence QTL GWAS1170322 (human)9e-10intelligence73225214932252150Human
597074249GWAS1170323_Hintelligence QTL GWAS1170323 (human)4e-08intelligence73217182132171822Human
597464387GWAS1560461_Hbody mass index QTL GWAS1560461 (human)3e-16body mass indexbody mass index (BMI) (CMO:0000105)73230772332307724Human
597184120GWAS1280194_Hsmoking cessation QTL GWAS1280194 (human)9e-22smoking cessation73228676132286762Human
597244792GWAS1340866_Htrait in response to lamotrigine QTL GWAS1340866 (human)0.0000008trait in response to lamotrigine73196361131963612Human
597333883GWAS1429957_Hsmoking cessation QTL GWAS1429957 (human)3e-19smoking cessation73227507832275079Human
597184121GWAS1280195_Hsmoking cessation QTL GWAS1280195 (human)2e-22smoking cessation73229008632290087Human
597184122GWAS1280196_Hsmoking cessation QTL GWAS1280196 (human)1e-21smoking cessation73229051732290518Human
597147251GWAS1243325_Hself reported educational attainment QTL GWAS1243325 (human)2e-09self reported educational attainment73221599632215997Human
597244796GWAS1340870_Haging QTL GWAS1340870 (human)3e-10aging73168856631688567Human
597056112GWAS1152186_Hadolescent idiopathic scoliosis QTL GWAS1152186 (human)0.000001adolescent idiopathic scoliosis73224816332248164Human
597164918GWAS1260992_Hlipid measurement QTL GWAS1260992 (human)0.000002lipid measurementblood lipid measurement (CMO:0000050)73213103432131035Human
597498995GWAS1595069_Hbody mass index QTL GWAS1595069 (human)2e-08body mass indexbody mass index (BMI) (CMO:0000105)73241820932418210Human
597498994GWAS1595068_Hbody mass index QTL GWAS1595068 (human)8e-19body mass indexbody mass index (BMI) (CMO:0000105)73232953632329537Human
597415540GWAS1511614_Hchronotype measurement QTL GWAS1511614 (human)2e-15chronotype measurement73233402732334028Human
597511021GWAS1607095_Htype 2 diabetes mellitus QTL GWAS1607095 (human)6e-24type 2 diabetes mellitus73234704132347042Human
597028449GWAS1124523_Hbody mass index QTL GWAS1124523 (human)6e-15body mass indexbody mass index (BMI) (CMO:0000105)73229872532298726Human
406890933GWAS539909_Hgout QTL GWAS539909 (human)0.0000001gout73217728132177282Human
597114222GWAS1210296_Hprotein measurement QTL GWAS1210296 (human)2e-08protein measurement73206168532061686Human
597112173GWAS1208247_Hcognitive function measurement QTL GWAS1208247 (human)1e-08cognitive function measurement73229526832295269Human
597457767GWAS1553841_Hbody mass index QTL GWAS1553841 (human)4e-09body mass indexbody mass index (BMI) (CMO:0000105)73232891232328913Human
596968046GWAS1087565_Hbody mass index QTL GWAS1087565 (human)3e-14body mass index73232953632329537Human
597207143GWAS1303217_Hintelligence QTL GWAS1303217 (human)2e-09intelligence73225214932252150Human
597376612GWAS1472686_Hsmoking behavior QTL GWAS1472686 (human)0.0000002smoking behavior73230772332307724Human

Markers in Region
D7S817  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37732,136,396 - 32,136,554UniSTSGRCh37
Build 36732,102,921 - 32,103,079RGDNCBI36
Celera732,123,335 - 32,123,489RGD
Cytogenetic Map7p14.3UniSTS
HuRef732,018,049 - 32,018,203UniSTS
CRA_TCAGchr7v2732,184,686 - 32,184,840UniSTS
Marshfield Genetic Map750.29RGD
Marshfield Genetic Map750.29UniSTS
deCODE Assembly Map752.16UniSTS
Stanford-G3 RH Map71352.0UniSTS
Whitehead-RH Map7100.3UniSTS
Whitehead-YAC Contig Map7 UniSTS
NCBI RH Map7477.7UniSTS
D7S2252  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37732,073,638 - 32,073,889UniSTSGRCh37
GRCh37732,073,783 - 32,073,874UniSTSGRCh37
Build 36732,040,163 - 32,040,414RGDNCBI36
Celera732,060,740 - 32,060,831UniSTS
Celera732,060,595 - 32,060,846RGD
Cytogenetic Map7p14.3UniSTS
HuRef731,955,282 - 31,955,531UniSTS
HuRef731,955,425 - 31,955,516UniSTS
CRA_TCAGchr7v2732,121,946 - 32,122,197UniSTS
CRA_TCAGchr7v2732,122,091 - 32,122,182UniSTS
Marshfield Genetic Map750.29UniSTS
Marshfield Genetic Map750.29RGD
Genethon Genetic Map751.5UniSTS
TNG Radiation Hybrid Map715727.0UniSTS
deCODE Assembly Map752.16UniSTS
GeneMap99-GB4 RH Map7143.92UniSTS
D7S3055  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37732,136,344 - 32,136,500UniSTSGRCh37
Build 36732,102,869 - 32,103,025RGDNCBI36
Celera732,123,283 - 32,123,435RGD
Cytogenetic Map7p14.3UniSTS
HuRef732,017,997 - 32,018,149UniSTS
CRA_TCAGchr7v2732,184,634 - 32,184,786UniSTS
D7S722  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37732,328,031 - 32,328,124UniSTSGRCh37
Build 36732,294,556 - 32,294,649RGDNCBI36
Celera732,314,901 - 32,314,994RGD
Cytogenetic Map7p14.3UniSTS
HuRef732,209,603 - 32,209,696UniSTS
CRA_TCAGchr7v2732,376,309 - 32,376,402UniSTS
D7S1660  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37732,216,642 - 32,216,797UniSTSGRCh37
Build 36732,183,167 - 32,183,322RGDNCBI36
Celera732,203,520 - 32,203,675RGD
Cytogenetic Map7p14.3UniSTS
HuRef732,098,312 - 32,098,467UniSTS
CRA_TCAGchr7v2732,264,934 - 32,265,089UniSTS
G49461  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37731,864,823 - 31,865,058UniSTSGRCh37
Build 36731,831,348 - 31,831,583RGDNCBI36
Celera731,851,734 - 31,851,969RGD
Cytogenetic Map7p14.3UniSTS
HuRef731,745,907 - 31,746,142UniSTS
CRA_TCAGchr7v2731,913,095 - 31,913,330UniSTS
SHGC-112503  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37732,075,295 - 32,075,639UniSTSGRCh37
Build 36732,041,820 - 32,042,164RGDNCBI36
Celera732,062,252 - 32,062,596RGD
Cytogenetic Map7p14.3UniSTS
HuRef731,956,937 - 31,957,281UniSTS
CRA_TCAGchr7v2732,123,603 - 32,123,947UniSTS
TNG Radiation Hybrid Map715727.0UniSTS
SHGC-132749  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37732,165,712 - 32,165,902UniSTSGRCh37
Build 36732,132,237 - 32,132,427RGDNCBI36
Celera732,152,647 - 32,152,837RGD
Cytogenetic Map7p14.3UniSTS
HuRef732,047,353 - 32,047,551UniSTS
CRA_TCAGchr7v2732,213,998 - 32,214,188UniSTS
G17174  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37731,984,109 - 31,984,211UniSTSGRCh37
Build 36731,950,634 - 31,950,736RGDNCBI36
Celera731,971,065 - 31,971,167RGD
Cytogenetic Map7p14.3UniSTS
HuRef731,865,744 - 31,865,846UniSTS
CRA_TCAGchr7v2732,032,414 - 32,032,516UniSTS
A004F24  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37731,823,177 - 31,823,326UniSTSGRCh37
Build 36731,789,702 - 31,789,851RGDNCBI36
Celera731,810,094 - 31,810,243RGD
Cytogenetic Map7p14.3UniSTS
HuRef731,703,881 - 31,704,030UniSTS
CRA_TCAGchr7v2731,871,450 - 31,871,599UniSTS
GeneMap99-GB4 RH Map7140.02UniSTS
NCBI RH Map7467.5UniSTS
AFM190YH2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37732,086,570 - 32,086,732UniSTSGRCh37
Build 36732,053,095 - 32,053,257RGDNCBI36
Celera732,073,527 - 32,073,689RGD
Cytogenetic Map7p14.3UniSTS
HuRef731,968,212 - 31,968,374UniSTS
CRA_TCAGchr7v2732,134,878 - 32,135,040UniSTS
Whitehead-YAC Contig Map7 UniSTS
GDB:3754398  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37732,086,446 - 32,086,548UniSTSGRCh37
Build 36732,052,971 - 32,053,073RGDNCBI36
Celera732,073,403 - 32,073,505RGD
Cytogenetic Map7p14.3UniSTS
HuRef731,968,088 - 31,968,190UniSTS
CRA_TCAGchr7v2732,134,754 - 32,134,856UniSTS
D7S1392  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37732,205,269 - 32,205,346UniSTSGRCh37
Build 36732,171,794 - 32,171,871RGDNCBI36
Celera732,192,146 - 32,192,223RGD
Cytogenetic Map7p14.3UniSTS
HuRef732,086,938 - 32,087,015UniSTS
CRA_TCAGchr7v2732,253,560 - 32,253,637UniSTS
D7S3045  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37731,826,415 - 31,826,629UniSTSGRCh37
Build 36731,792,940 - 31,793,154RGDNCBI36
Celera731,813,332 - 31,813,542RGD
Cytogenetic Map7p14.3UniSTS
HuRef731,707,118 - 31,707,308UniSTS
CRA_TCAGchr7v2731,874,688 - 31,874,903UniSTS
Marshfield Genetic Map750.29UniSTS
deCODE Assembly Map752.02UniSTS
D7S1834  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37731,826,646 - 31,826,793UniSTSGRCh37
GRCh37731,826,430 - 31,826,772UniSTSGRCh37
Build 36731,792,955 - 31,793,297RGDNCBI36
Celera731,813,347 - 31,813,685RGD
Celera731,813,559 - 31,813,706UniSTS
Cytogenetic Map7p14.3UniSTS
HuRef731,707,325 - 31,707,472UniSTS
HuRef731,707,133 - 31,707,451UniSTS
CRA_TCAGchr7v2731,874,920 - 31,875,067UniSTS
CRA_TCAGchr7v2731,874,703 - 31,875,046UniSTS
TNG Radiation Hybrid Map715651.0UniSTS
Stanford-G3 RH Map71318.0UniSTS
Whitehead-RH Map7100.3UniSTS
Whitehead-YAC Contig Map7 UniSTS
NCBI RH Map7467.5UniSTS
RH18056  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37731,829,350 - 31,829,545UniSTSGRCh37
Build 36731,795,875 - 31,796,070RGDNCBI36
Celera731,816,263 - 31,816,458RGD
Cytogenetic Map7p14.3UniSTS
HuRef731,710,029 - 31,710,224UniSTS
CRA_TCAGchr7v2731,877,624 - 31,877,819UniSTS
GeneMap99-GB4 RH Map7149.16UniSTS
NCBI RH Map7467.5UniSTS
GDB:1317182  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37732,134,475 - 32,134,593UniSTSGRCh37
Build 36732,101,000 - 32,101,118RGDNCBI36
Celera732,121,414 - 32,121,532RGD
Cytogenetic Map7p14.3UniSTS
HuRef732,016,128 - 32,016,246UniSTS
CRA_TCAGchr7v2732,182,765 - 32,182,883UniSTS
RH18057  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37731,792,877 - 31,793,034UniSTSGRCh37
Build 36731,759,402 - 31,759,559RGDNCBI36
Celera731,779,802 - 31,779,959RGD
Cytogenetic Map7p14.3UniSTS
HuRef731,673,595 - 31,673,752UniSTS
CRA_TCAGchr7v2731,841,167 - 31,841,324UniSTS
GeneMap99-GB4 RH Map7149.16UniSTS
NCBI RH Map7467.5UniSTS
GDB:1318410  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37732,287,893 - 32,288,085UniSTSGRCh37
Build 36732,254,418 - 32,254,610RGDNCBI36
Celera732,274,762 - 32,274,954RGD
Cytogenetic Map7p14.3UniSTS
HuRef732,169,528 - 32,169,720UniSTS
CRA_TCAGchr7v2732,336,173 - 32,336,365UniSTS
D7S795  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37732,165,790 - 32,166,019UniSTSGRCh37
GRCh37593,529,370 - 93,530,763UniSTSGRCh37
GRCh37732,165,876 - 32,165,963UniSTSGRCh37
Build 36732,132,401 - 32,132,488RGDNCBI36
Celera732,152,811 - 32,152,898RGD
Celera732,152,725 - 32,152,954UniSTS
Celera589,389,587 - 89,390,980UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map5q15UniSTS
HuRef732,047,525 - 32,047,612UniSTS
HuRef588,702,370 - 88,703,763UniSTS
HuRef732,047,431 - 32,047,668UniSTS
CRA_TCAGchr7v2732,214,162 - 32,214,249UniSTS
CRA_TCAGchr7v2732,214,076 - 32,214,305UniSTS
Stanford-G3 RH Map71365.0UniSTS
Stanford-G3 RH Map71359.0UniSTS
Whitehead-RH Map7142.2UniSTS
Whitehead-YAC Contig Map7 UniSTS
NCBI RH Map7483.3UniSTS
GDB:6028491  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37731,944,701 - 31,944,939UniSTSGRCh37
Build 36731,911,226 - 31,911,464RGDNCBI36
Celera731,931,655 - 31,931,893RGD
Cytogenetic Map7p14.3UniSTS
HuRef731,826,376 - 31,826,614UniSTS
CRA_TCAGchr7v2731,993,009 - 31,993,247UniSTS
D7S2844  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37732,165,790 - 32,165,900UniSTSGRCh37
Build 36732,132,315 - 32,132,425RGDNCBI36
Celera732,152,725 - 32,152,835RGD
Cytogenetic Map7p14.3UniSTS
HuRef732,047,431 - 32,047,549UniSTS
CRA_TCAGchr7v2732,214,076 - 32,214,186UniSTS
PDE1C_4139  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37731,829,063 - 31,829,858UniSTSGRCh37
Build 36731,795,588 - 31,796,383RGDNCBI36
Celera731,815,976 - 31,816,771RGD
HuRef731,709,742 - 31,710,537UniSTS
CRA_TCAGchr7v2731,877,337 - 31,878,132UniSTS
D7S1834  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7p14.3UniSTS
TNG Radiation Hybrid Map715651.0UniSTS
Stanford-G3 RH Map71318.0UniSTS
Whitehead-RH Map7100.3UniSTS
Whitehead-YAC Contig Map7 UniSTS
NCBI RH Map7467.5UniSTS
D7S2252  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7p14.3UniSTS
D7S795  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7p14.3UniSTS
Stanford-G3 RH Map71365.0UniSTS
Stanford-G3 RH Map71359.0UniSTS
Whitehead-RH Map7142.2UniSTS
Whitehead-YAC Contig Map7 UniSTS
NCBI RH Map7483.3UniSTS


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 2374 2788 2237 4960 1638 2223 4 536 1687 379 2258 6895 6209 45 3730 826 1677 1577 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_051183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001191056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001191057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001191058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001191059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007060041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007060042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007060043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007060044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC018637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI168057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI301181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM668260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ020305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB135276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA023468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA025688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA030384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA174241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA221214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA231237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA249465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY125708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U40371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U40372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000321453   ⟹   ENSP00000318105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl731,751,179 - 32,071,436 (-)Ensembl
Ensembl Acc Id: ENST00000396182   ⟹   ENSP00000379485
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl731,790,200 - 32,070,862 (-)Ensembl
Ensembl Acc Id: ENST00000396184   ⟹   ENSP00000379487
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl731,783,504 - 32,071,408 (-)Ensembl
Ensembl Acc Id: ENST00000396189   ⟹   ENSP00000379492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl731,880,849 - 32,071,433 (-)Ensembl
Ensembl Acc Id: ENST00000396191   ⟹   ENSP00000379494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl731,751,179 - 32,070,407 (-)Ensembl
Ensembl Acc Id: ENST00000396193   ⟹   ENSP00000379496
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl731,751,179 - 32,299,329 (-)Ensembl
Ensembl Acc Id: ENST00000464881
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl731,873,332 - 32,078,010 (-)Ensembl
Ensembl Acc Id: ENST00000478736
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl731,847,864 - 31,850,902 (-)Ensembl
Ensembl Acc Id: ENST00000479980
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl731,790,171 - 31,820,919 (-)Ensembl
Ensembl Acc Id: ENST00000482681
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl731,865,017 - 31,879,284 (-)Ensembl
Ensembl Acc Id: ENST00000495221
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl732,070,484 - 32,071,371 (-)Ensembl
Ensembl Acc Id: ENST00000672256   ⟹   ENSP00000499831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl732,209,489 - 32,428,131 (-)Ensembl
RefSeq Acc Id: NM_001191056   ⟹   NP_001177985
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38731,783,510 - 32,070,862 (-)NCBI
GRCh37731,791,666 - 32,339,016 (-)NCBI
Celera731,779,557 - 32,325,238 (-)RGD
HuRef731,673,350 - 32,219,567 (-)RGD
CHM1_1731,822,784 - 32,110,093 (-)NCBI
T2T-CHM13v2.0731,921,893 - 32,209,798 (-)NCBI
CRA_TCAGchr7v2731,840,922 - 32,386,609 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001191057   ⟹   NP_001177986
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38731,751,179 - 32,070,407 (-)NCBI
GRCh37731,791,666 - 32,339,016 (-)NCBI
Celera731,779,557 - 32,325,238 (-)RGD
HuRef731,673,350 - 32,219,567 (-)RGD
CHM1_1731,790,368 - 32,110,093 (-)NCBI
T2T-CHM13v2.0731,889,483 - 32,209,343 (-)NCBI
CRA_TCAGchr7v2731,840,922 - 32,386,609 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001191058   ⟹   NP_001177987
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38731,751,179 - 32,299,328 (-)NCBI
GRCh37731,791,666 - 32,339,016 (-)NCBI
Celera731,779,557 - 32,325,238 (-)RGD
HuRef731,673,350 - 32,219,567 (-)RGD
CHM1_1731,790,368 - 32,338,594 (-)NCBI
T2T-CHM13v2.0731,889,483 - 32,438,819 (-)NCBI
CRA_TCAGchr7v2731,840,922 - 32,386,609 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001191059   ⟹   NP_001177988
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38731,751,179 - 32,071,028 (-)NCBI
GRCh37731,791,666 - 32,339,016 (-)NCBI
Celera731,779,557 - 32,325,238 (-)RGD
HuRef731,673,350 - 32,219,567 (-)RGD
CHM1_1731,790,368 - 32,110,667 (-)NCBI
T2T-CHM13v2.0731,889,483 - 32,209,964 (-)NCBI
CRA_TCAGchr7v2731,840,922 - 32,386,609 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001322055   ⟹   NP_001308984
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38731,751,179 - 32,071,028 (-)NCBI
CHM1_1731,790,368 - 32,110,667 (-)NCBI
T2T-CHM13v2.0731,889,483 - 32,209,964 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322056   ⟹   NP_001308985
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38731,783,510 - 32,071,028 (-)NCBI
CHM1_1731,822,784 - 32,110,667 (-)NCBI
T2T-CHM13v2.0731,921,893 - 32,209,964 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322057   ⟹   NP_001308986
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38731,783,510 - 32,071,028 (-)NCBI
CHM1_1731,822,784 - 32,110,667 (-)NCBI
T2T-CHM13v2.0731,921,893 - 32,209,964 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322058   ⟹   NP_001308987
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38731,783,510 - 32,299,328 (-)NCBI
CHM1_1731,822,784 - 32,338,594 (-)NCBI
T2T-CHM13v2.0731,921,893 - 32,438,819 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322059   ⟹   NP_001308988
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38731,783,510 - 32,428,224 (-)NCBI
CHM1_1731,822,784 - 32,467,753 (-)NCBI
T2T-CHM13v2.0731,921,893 - 32,567,499 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005020   ⟹   NP_005011
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38731,783,510 - 32,071,436 (-)NCBI
GRCh37731,791,666 - 32,339,016 (-)NCBI
Build 36731,795,772 - 32,077,516 (-)NCBI Archive
Celera731,779,557 - 32,325,238 (-)RGD
HuRef731,673,350 - 32,219,567 (-)RGD
CHM1_1731,822,784 - 32,110,667 (-)NCBI
T2T-CHM13v2.0731,921,893 - 32,210,372 (-)NCBI
CRA_TCAGchr7v2731,840,922 - 32,386,609 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_017012264   ⟹   XP_016867753
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38731,751,179 - 32,293,463 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012265   ⟹   XP_016867754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38731,751,179 - 32,258,932 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012266   ⟹   XP_016867755
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38731,783,510 - 32,293,463 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012267   ⟹   XP_016867756
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38731,751,179 - 32,071,436 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047420440   ⟹   XP_047276396
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38731,751,179 - 32,071,973 (-)NCBI
RefSeq Acc Id: XM_047420441   ⟹   XP_047276397
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38731,616,777 - 32,070,862 (-)NCBI
RefSeq Acc Id: XM_047420442   ⟹   XP_047276398
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38731,616,777 - 32,071,436 (-)NCBI
RefSeq Acc Id: XM_047420443   ⟹   XP_047276399
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38731,616,777 - 32,071,975 (-)NCBI
RefSeq Acc Id: XM_047420444   ⟹   XP_047276400
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38731,783,510 - 32,071,966 (-)NCBI
RefSeq Acc Id: XM_047420445   ⟹   XP_047276401
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38731,751,179 - 32,027,606 (-)NCBI
RefSeq Acc Id: XM_047420446   ⟹   XP_047276402
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38731,783,510 - 32,043,876 (-)NCBI
RefSeq Acc Id: XM_054358330   ⟹   XP_054214305
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0731,889,483 - 32,432,991 (-)NCBI
RefSeq Acc Id: XM_054358331   ⟹   XP_054214306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0731,889,483 - 32,397,853 (-)NCBI
RefSeq Acc Id: XM_054358332   ⟹   XP_054214307
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0731,921,893 - 32,432,991 (-)NCBI
RefSeq Acc Id: XM_054358333   ⟹   XP_054214308
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0731,889,483 - 32,210,909 (-)NCBI
RefSeq Acc Id: XM_054358334   ⟹   XP_054214309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0731,889,483 - 32,210,372 (-)NCBI
RefSeq Acc Id: XM_054358335   ⟹   XP_054214310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0731,754,475 - 32,209,798 (-)NCBI
RefSeq Acc Id: XM_054358336   ⟹   XP_054214311
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0731,754,475 - 32,210,372 (-)NCBI
RefSeq Acc Id: XM_054358337   ⟹   XP_054214312
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0731,754,475 - 32,210,911 (-)NCBI
RefSeq Acc Id: XM_054358338   ⟹   XP_054214313
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0731,921,893 - 32,210,902 (-)NCBI
RefSeq Acc Id: XM_054358339   ⟹   XP_054214314
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0731,921,893 - 32,190,451 (-)NCBI
RefSeq Acc Id: XR_001744802
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38731,616,777 - 32,293,463 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001744803
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38731,616,777 - 32,293,463 (-)NCBI
Sequence:
RefSeq Acc Id: XR_007060041
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38731,816,015 - 32,293,463 (-)NCBI
RefSeq Acc Id: XR_007060042
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38731,616,777 - 32,071,028 (-)NCBI
RefSeq Acc Id: XR_007060043
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38731,616,777 - 32,070,862 (-)NCBI
RefSeq Acc Id: XR_007060044
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38731,616,777 - 32,071,028 (-)NCBI
RefSeq Acc Id: XR_008487624
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0731,754,475 - 32,432,991 (-)NCBI
RefSeq Acc Id: XR_008487625
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0731,754,475 - 32,432,991 (-)NCBI
RefSeq Acc Id: XR_008487626
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0731,954,373 - 32,432,991 (-)NCBI
RefSeq Acc Id: XR_008487627
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0731,754,475 - 32,209,964 (-)NCBI
RefSeq Acc Id: XR_008487628
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0731,754,475 - 32,209,798 (-)NCBI
RefSeq Acc Id: XR_008487629
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0731,754,475 - 32,209,964 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001177985 (Get FASTA)   NCBI Sequence Viewer  
  NP_001177986 (Get FASTA)   NCBI Sequence Viewer  
  NP_001177987 (Get FASTA)   NCBI Sequence Viewer  
  NP_001177988 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308984 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308985 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308986 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308987 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308988 (Get FASTA)   NCBI Sequence Viewer  
  NP_005011 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867753 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867754 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867755 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867756 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276396 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276397 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276398 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276399 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276400 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276401 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276402 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214305 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214306 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214307 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214308 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214309 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214310 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214311 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214312 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214313 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214314 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA96961 (Get FASTA)   NCBI Sequence Viewer  
  AAC29142 (Get FASTA)   NCBI Sequence Viewer  
  AAC50437 (Get FASTA)   NCBI Sequence Viewer  
  AAH22479 (Get FASTA)   NCBI Sequence Viewer  
  AAH22525 (Get FASTA)   NCBI Sequence Viewer  
  AAS07516 (Get FASTA)   NCBI Sequence Viewer  
  BAC03734 (Get FASTA)   NCBI Sequence Viewer  
  BAG51638 (Get FASTA)   NCBI Sequence Viewer  
  BAG52838 (Get FASTA)   NCBI Sequence Viewer  
  EAW93984 (Get FASTA)   NCBI Sequence Viewer  
  EAW93985 (Get FASTA)   NCBI Sequence Viewer  
  EAW93986 (Get FASTA)   NCBI Sequence Viewer  
  EAW93987 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000318105
  ENSP00000318105.7
  ENSP00000379485
  ENSP00000379485.2
  ENSP00000379487
  ENSP00000379487.3
  ENSP00000379492.2
  ENSP00000379494
  ENSP00000379494.1
  ENSP00000379496
  ENSP00000379496.1
  ENSP00000499831.1
GenBank Protein Q14123 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001177987   ⟸   NM_001191058
- Peptide Label: isoform 3
- UniProtKB: A0A0A0MS69 (UniProtKB/TrEMBL),   B3KSS6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001177988   ⟸   NM_001191059
- Peptide Label: isoform 2
- UniProtKB: Q14124 (UniProtKB/Swiss-Prot),   E9PE92 (UniProtKB/Swiss-Prot),   B3KPC6 (UniProtKB/Swiss-Prot),   Q8NB10 (UniProtKB/Swiss-Prot),   Q14123 (UniProtKB/Swiss-Prot),   B3KSS6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001177986   ⟸   NM_001191057
- Peptide Label: isoform 2
- UniProtKB: Q14124 (UniProtKB/Swiss-Prot),   E9PE92 (UniProtKB/Swiss-Prot),   B3KPC6 (UniProtKB/Swiss-Prot),   Q8NB10 (UniProtKB/Swiss-Prot),   Q14123 (UniProtKB/Swiss-Prot),   B3KSS6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_005011   ⟸   NM_005020
- Peptide Label: isoform 1
- UniProtKB: Q8TAE4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001177985   ⟸   NM_001191056
- Peptide Label: isoform 1
- UniProtKB: Q8TAE4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308984   ⟸   NM_001322055
- Peptide Label: isoform 2
- UniProtKB: Q14124 (UniProtKB/Swiss-Prot),   E9PE92 (UniProtKB/Swiss-Prot),   B3KPC6 (UniProtKB/Swiss-Prot),   Q8NB10 (UniProtKB/Swiss-Prot),   Q14123 (UniProtKB/Swiss-Prot),   B3KSS6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308988   ⟸   NM_001322059
- Peptide Label: isoform 5
- UniProtKB: Q14123 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308987   ⟸   NM_001322058
- Peptide Label: isoform 4
- UniProtKB: Q75MP2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308985   ⟸   NM_001322056
- Peptide Label: isoform 1
- UniProtKB: Q8TAE4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308986   ⟸   NM_001322057
- Peptide Label: isoform 1
- UniProtKB: Q8TAE4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016867753   ⟸   XM_017012264
- Peptide Label: isoform X1
- UniProtKB: B3KSS6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016867754   ⟸   XM_017012265
- Peptide Label: isoform X2
- UniProtKB: B3KSS6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016867756   ⟸   XM_017012267
- Peptide Label: isoform X4
- UniProtKB: Q14124 (UniProtKB/Swiss-Prot),   E9PE92 (UniProtKB/Swiss-Prot),   B3KPC6 (UniProtKB/Swiss-Prot),   Q8NB10 (UniProtKB/Swiss-Prot),   Q14123 (UniProtKB/Swiss-Prot),   B3KSS6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016867755   ⟸   XM_017012266
- Peptide Label: isoform X3
- UniProtKB: Q75MP2 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000318105   ⟸   ENST00000321453
Ensembl Acc Id: ENSP00000379494   ⟸   ENST00000396191
Ensembl Acc Id: ENSP00000379492   ⟸   ENST00000396189
Ensembl Acc Id: ENSP00000379487   ⟸   ENST00000396184
Ensembl Acc Id: ENSP00000379485   ⟸   ENST00000396182
Ensembl Acc Id: ENSP00000379496   ⟸   ENST00000396193
Ensembl Acc Id: ENSP00000499831   ⟸   ENST00000672256
RefSeq Acc Id: XP_047276399   ⟸   XM_047420443
- Peptide Label: isoform X5
- UniProtKB: Q8TAE4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047276398   ⟸   XM_047420442
- Peptide Label: isoform X5
- UniProtKB: Q8TAE4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047276397   ⟸   XM_047420441
- Peptide Label: isoform X5
- UniProtKB: Q8TAE4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047276396   ⟸   XM_047420440
- Peptide Label: isoform X4
- UniProtKB: Q14124 (UniProtKB/Swiss-Prot),   Q14123 (UniProtKB/Swiss-Prot),   E9PE92 (UniProtKB/Swiss-Prot),   B3KPC6 (UniProtKB/Swiss-Prot),   Q8NB10 (UniProtKB/Swiss-Prot),   B3KSS6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047276401   ⟸   XM_047420445
- Peptide Label: isoform X7
- UniProtKB: B3KSS6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047276400   ⟸   XM_047420444
- Peptide Label: isoform X6
- UniProtKB: Q8TAE4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047276402   ⟸   XM_047420446
- Peptide Label: isoform X8
- UniProtKB: Q75MP2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054214312   ⟸   XM_054358337
- Peptide Label: isoform X5
- UniProtKB: Q8TAE4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054214311   ⟸   XM_054358336
- Peptide Label: isoform X5
- UniProtKB: Q8TAE4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054214310   ⟸   XM_054358335
- Peptide Label: isoform X5
- UniProtKB: Q8TAE4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054214305   ⟸   XM_054358330
- Peptide Label: isoform X1
- UniProtKB: B3KSS6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054214306   ⟸   XM_054358331
- Peptide Label: isoform X2
- UniProtKB: B3KSS6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054214308   ⟸   XM_054358333
- Peptide Label: isoform X4
- UniProtKB: Q14124 (UniProtKB/Swiss-Prot),   Q14123 (UniProtKB/Swiss-Prot),   E9PE92 (UniProtKB/Swiss-Prot),   B3KPC6 (UniProtKB/Swiss-Prot),   Q8NB10 (UniProtKB/Swiss-Prot),   B3KSS6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054214309   ⟸   XM_054358334
- Peptide Label: isoform X4
- UniProtKB: Q14124 (UniProtKB/Swiss-Prot),   Q14123 (UniProtKB/Swiss-Prot),   E9PE92 (UniProtKB/Swiss-Prot),   B3KPC6 (UniProtKB/Swiss-Prot),   Q8NB10 (UniProtKB/Swiss-Prot),   B3KSS6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054214307   ⟸   XM_054358332
- Peptide Label: isoform X3
- UniProtKB: Q75MP2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054214313   ⟸   XM_054358338
- Peptide Label: isoform X6
- UniProtKB: Q8TAE4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054214314   ⟸   XM_054358339
- Peptide Label: isoform X8
- UniProtKB: Q75MP2 (UniProtKB/TrEMBL)
Protein Domains
PDEase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q14123-F1-model_v2 AlphaFold Q14123 1-709 view protein structure

Promoters
RGD ID:7210319
Promoter ID:EPDNEW_H10906
Type:initiation region
Name:PDE1C_1
Description:phosphodiesterase 1C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10907  EPDNEW_H10908  EPDNEW_H10909  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38732,070,820 - 32,070,880EPDNEW
RGD ID:7210321
Promoter ID:EPDNEW_H10907
Type:initiation region
Name:PDE1C_2
Description:phosphodiesterase 1C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10906  EPDNEW_H10908  EPDNEW_H10909  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38732,071,028 - 32,071,088EPDNEW
RGD ID:7210323
Promoter ID:EPDNEW_H10908
Type:initiation region
Name:PDE1C_3
Description:phosphodiesterase 1C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10906  EPDNEW_H10907  EPDNEW_H10909  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38732,071,433 - 32,071,493EPDNEW
RGD ID:7210325
Promoter ID:EPDNEW_H10909
Type:initiation region
Name:PDE1C_4
Description:phosphodiesterase 1C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10906  EPDNEW_H10907  EPDNEW_H10908  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38732,428,031 - 32,428,091EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8776 AgrOrtholog
COSMIC PDE1C COSMIC
Ensembl Genes ENSG00000154678 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000321453 ENTREZGENE
  ENST00000321453.12 UniProtKB/Swiss-Prot
  ENST00000396182 ENTREZGENE
  ENST00000396182.6 UniProtKB/Swiss-Prot
  ENST00000396184 ENTREZGENE
  ENST00000396184.7 UniProtKB/Swiss-Prot
  ENST00000396189.2 UniProtKB/TrEMBL
  ENST00000396191 ENTREZGENE
  ENST00000396191.6 UniProtKB/Swiss-Prot
  ENST00000396193 ENTREZGENE
  ENST00000396193.5 UniProtKB/TrEMBL
  ENST00000672256.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.1300.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000154678 GTEx
HGNC ID HGNC:8776 ENTREZGENE
Human Proteome Map PDE1C Human Proteome Map
InterPro HD/PDEase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDEase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDEase_catalytic_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDEase_catalytic_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDEase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDEase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5137 UniProtKB/Swiss-Prot
NCBI Gene 5137 ENTREZGENE
OMIM 602987 OMIM
PANTHER CYCLIC NUCLEOTIDE PHOSPHODIESTERASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PDEase_I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDEase_I_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33124 PharmGKB
PRINTS PDIESTERASE1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PDEASE_I_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDEASE_I_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HDc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP HD-domain/PDEase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MS69 ENTREZGENE, UniProtKB/TrEMBL
  A0A5F9ZGW6_HUMAN UniProtKB/TrEMBL
  B3KPC6 ENTREZGENE
  B3KSS6 ENTREZGENE, UniProtKB/TrEMBL
  E9PE92 ENTREZGENE
  F8W905_HUMAN UniProtKB/TrEMBL
  PDE1C_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q14124 ENTREZGENE
  Q75MP2 ENTREZGENE, UniProtKB/TrEMBL
  Q75MW3_HUMAN UniProtKB/TrEMBL
  Q8NB10 ENTREZGENE
  Q8TAE4 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B3KPC6 UniProtKB/Swiss-Prot
  E9PE92 UniProtKB/Swiss-Prot
  Q14124 UniProtKB/Swiss-Prot
  Q8NB10 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 PDE1C  phosphodiesterase 1C    phosphodiesterase 1C, calmodulin-dependent 70kDa  Symbol and/or name change 5135510 APPROVED