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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | PDE1C | Human | substance-related disorder | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:20098672 | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | PDE1C | Human | substance-related disorder | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:20098672 | |
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# | 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 |
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 |
PDE1C (Homo sapiens - human) |
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Pde1c (Mus musculus - house mouse) |
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Pde1c (Rattus norvegicus - Norway rat) |
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Pde1c (Chinchilla lanigera - long-tailed chinchilla) |
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PDE1C (Pan paniscus - bonobo/pygmy chimpanzee) |
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PDE1C (Canis lupus familiaris - dog) |
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Pde1c (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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PDE1C (Sus scrofa - pig) |
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PDE1C (Chlorocebus sabaeus - green monkey) |
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Pde1c (Heterocephalus glaber - naked mole-rat) |
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Variants in PDE1C
254 total 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 |
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. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
D7S817 |
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D7S2252 |
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D7S3055 |
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D7S722 |
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D7S1660 |
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G49461 |
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SHGC-112503 |
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SHGC-132749 |
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G17174 |
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A004F24 |
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AFM190YH2 |
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GDB:3754398 |
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D7S1392 |
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D7S3045 |
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D7S1834 |
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RH18056 |
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GDB:1317182 |
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RH18057 |
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GDB:1318410 |
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D7S795 |
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GDB:6028491 |
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D7S2844 |
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PDE1C_4139 |
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D7S1834 |
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D7S2252 |
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D7S795 |
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adipose tissue
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alimentary part of gastrointestinal system
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appendage
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circulatory system
|
ectoderm
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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 |
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: |
|
Ensembl Acc Id: | ENST00000396182 ⟹ ENSP00000379485 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000396184 ⟹ ENSP00000379487 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000396189 ⟹ ENSP00000379492 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000396191 ⟹ ENSP00000379494 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000396193 ⟹ ENSP00000379496 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000464881 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000478736 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000479980 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000482681 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000495221 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000672256 ⟹ ENSP00000499831 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001191056 ⟹ NP_001177985 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001191057 ⟹ NP_001177986 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001191058 ⟹ NP_001177987 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001191059 ⟹ NP_001177988 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001322055 ⟹ NP_001308984 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001322056 ⟹ NP_001308985 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001322057 ⟹ NP_001308986 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001322058 ⟹ NP_001308987 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001322059 ⟹ NP_001308988 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_005020 ⟹ NP_005011 | ||||||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_017012264 ⟹ XP_016867753 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017012265 ⟹ XP_016867754 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017012266 ⟹ XP_016867755 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017012267 ⟹ XP_016867756 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_047420440 ⟹ XP_047276396 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047420441 ⟹ XP_047276397 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047420442 ⟹ XP_047276398 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047420443 ⟹ XP_047276399 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047420444 ⟹ XP_047276400 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047420445 ⟹ XP_047276401 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047420446 ⟹ XP_047276402 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054358330 ⟹ XP_054214305 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054358331 ⟹ XP_054214306 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054358332 ⟹ XP_054214307 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054358333 ⟹ XP_054214308 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054358334 ⟹ XP_054214309 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054358335 ⟹ XP_054214310 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054358336 ⟹ XP_054214311 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054358337 ⟹ XP_054214312 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054358338 ⟹ XP_054214313 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054358339 ⟹ XP_054214314 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_001744802 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XR_001744803 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XR_007060041 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_007060042 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_007060043 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_007060044 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_008487624 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_008487625 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_008487626 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_008487627 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_008487628 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_008487629 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
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) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q14123-F1-model_v2 | AlphaFold | Q14123 | 1-709 | view protein structure |
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: |
|
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: |
|
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: |
|
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: |
|
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 |
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 |