Annotation Detail

Information
Associated Genes
PPP1R3A
Associated Variants
PPP1R3A p.Asp905Tyr (p.D905Y) ( ENST00000284601.4 )
PPP1R3A p.Asp905Tyr (p.D905Y) ( ENST00000284601.4 )
Associated Disease
Insulin resistance, susceptibility to
Source Database
ClinVar
Description
NM_002711.4(PPP1R3A):c.2713G>T (p.Asp905Tyr) AND Insulin resistance, susceptibility to
ClinVar Allele ID
23745
ClinVar RefSeq Alternation Syntax
NM_002711.4:c.2713G>T
Clinical Significance Description
risk factor
Clinical Significance Last Update
1995-08-01
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000009243
ClinVar Disease
Insulin resistance, susceptibility to
Observed Origin Sample
germline
Pubmed
7581368
Drugs