Annotation Detail
Information
- Associated Genes
- CAPN10
- Associated Variants
-
CAPN10 c.471-187T>C
(
ENST00000270364.11,
ENST00000352879.8,
ENST00000354082.8,
ENST00000391984.7,
ENST00000404753.7 )
CAPN10 c.471-187T>C ( ENST00000270364.11, ENST00000352879.8, ENST00000354082.8, ENST00000391984.7, ENST00000404753.7 ) - Associated Disease
- Polycystic ovary syndrome, susceptibility to
- Source Database
- ClinVar
- Description
- NM_023083.4(CAPN10):c.471-187T>C AND Polycystic ovary syndrome, susceptibility to
- ClinVar Allele ID
- 20135
- ClinVar RefSeq Alternation Syntax
- NM_023085.4:c.471-187T>C
- ClinVar RefSeq Alternation Syntax
- NM_023083.4:c.471-187T>C
- Clinical Significance Description
- risk factor
- Clinical Significance Last Update
- 2003-11-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000005402
- ClinVar Disease
- Polycystic ovary syndrome, susceptibility to
- Observed Origin Sample
- germline
- Pubmed
- 11481585
- Pubmed
- 14574648
- Pubmed
- 12161543
- Pubmed
- 11017071
- Pubmed
- 14602801
Drugs