Annotation Detail

Information
Associated Genes
CAPN10
Associated Variants
CAPN10 c.471-176G>A ( ENST00000270364.11, ENST00000352879.8, ENST00000354082.8, ENST00000391984.7, ENST00000404753.7 )
CAPN10 c.471-176G>A ( ENST00000270364.11, ENST00000352879.8, ENST00000354082.8, ENST00000391984.7, ENST00000404753.7 )
Source Database
ClinVar
Description
NM_023083.4(CAPN10):c.471-176G>A AND Type 2 diabetes mellitus 1, susceptibility to
ClinVar Allele ID
20132
ClinVar RefSeq Alternation Syntax
NM_023085.4:c.471-176G>A
ClinVar RefSeq Alternation Syntax
NM_023083.4:c.471-176G>A
Clinical Significance Description
risk factor
Clinical Significance Last Update
2004-07-01
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001799496
Observed Origin Sample
germline
Pubmed
15240652
Pubmed
11017071
Drugs