Annotation Detail

Information
Associated Genes
IRS1
Associated Variants
IRS1 p.Ala512Pro (p.A512P) ( ENST00000305123.6 )
IRS1 p.Ala512Pro (p.A512P) ( ENST00000305123.6 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_005544.3(IRS1):c.1534G>C (p.Ala512Pro) AND not specified
ClinVar Allele ID
512808
ClinVar RefSeq Alternation Syntax
NM_005544.3:c.1534G>C
Clinical Significance Description
Benign
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001701405
ClinVar Disease
not specified
Observed Origin Sample
germline
Drugs