Annotation Detail
Information
- Associated Genes
- IRS1
- Associated Variants
-
IRS1 p.Ala512Pro (p.A512P)
(
ENST00000305123.6 )
IRS1 p.Ala512Pro (p.A512P) ( ENST00000305123.6 ) - Associated Disease
- type 2 diabetes mellitus
- Source Database
- ClinVar
- Description
- NM_005544.3(IRS1):c.1534G>C (p.Ala512Pro) AND Type 2 diabetes mellitus
- ClinVar Allele ID
- 512808
- ClinVar RefSeq Alternation Syntax
- NM_005544.3:c.1534G>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2014-10-09
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000624941
- ClinVar Disease
- Type 2 diabetes mellitus
- Observed Origin Sample
- germline
Drugs