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GENE - TERM ANNOTATION REPORT

RGD ID: 2245
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cacna1c
Name: calcium voltage-gated channel subunit alpha1 C
Acc ID: DOID:0060173
Term: Timothy syndrome
Definition: A syndrome characterized by cardiac, hand/foot, facial, and neurodevelopmental features that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of the CACNA1C gene. (DO)
Definition Source(s): http://www.ncbi.nlm.nih.gov/books/NBK1403/ "DO" "DO", https://ghr.nlm.nih.gov/condition/timothy-syndrome "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/15863612 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Cacna1c ISOCACNA1C (Homo sapiens)1580173RGDDNA:missense mutations:exon:p.G406R, p.G402S (human) 
Cacna1c ISOCACNA1C (Homo sapiens)7240710OMIM  
Cacna1c ISOCACNA1C (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:15454078
Cacna1c ISOCACNA1C (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CACNA1C-related disorder | ClinVar Annotator: match by term: Timothy syndrome | ClinVar Annotator: match by term: Timothy syndrome type 1PMID:10343407 PMID:12166659 PMID:15454078 PMID:15863612 PMID:16199547 PMID:16360093 PMID:17224476 PMID:17576681 PMID:18250309 PMID:19074970 PMID:19225208 PMID:20031608 PMID:20543828 PMID:20817017 PMID:21307850 PMID:21685391 PMID:21878566 PMID:21910241 PMID:22020278 PMID:22106044 PMID:22581653 PMID:22584458 PMID:22840528 PMID:22990809 PMID:23313911 PMID:23414114 PMID:23575362 PMID:23578275 PMID:23580742 PMID:23631430 PMID:23677916 PMID:23678275 PMID:23690510 PMID:23861362 PMID:24033266 PMID:24183960 PMID:24439875 PMID:24690944 PMID:24728418 PMID:24981977 PMID:25184293 PMID:25260352 PMID:25333069 PMID:25341504 PMID:25447171 PMID:25500949 PMID:25633834 PMID:25661095 PMID:25691416 PMID:25741868 PMID:26159999 PMID:26227324 PMID:26230511 PMID:26253506 PMID:26383259 PMID:26386135 PMID:26498160 PMID:26637798 PMID:26822303 PMID:27218670 PMID:27231019 PMID:27502440 PMID:27593853 PMID:27662471 PMID:27711072 PMID:27868338 PMID:27920829 PMID:27925203 PMID:27930701 PMID:28211989 PMID:28341588 PMID:28371864 PMID:28492532 PMID:28600387 PMID:28616568 PMID:28704380 PMID:28750076 PMID:29046645 PMID:29071820 PMID:29247119 PMID:29568937 PMID:29915097 PMID:30023270 PMID:30025578 PMID:30027834 PMID:30172029 PMID:30279520 PMID:30345660 PMID:30513141 PMID:30662450 PMID:30847666 PMID:30984024 PMID:31004778 PMID:31110529 PMID:31293105 PMID:31408100 PMID:31430211 PMID:31539150 PMID:31737537 PMID:32145446 PMID:32161207 PMID:33488405 PMID:34163037 PMID:34222376 PMID:9536098
Cacna1c ISSCacna1c (Mus musculus)13592920MouseDOOMIM:601005 
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