Annotation Detail

Information
Associated Genes
PPP1R3A
Associated Variants
PPP1R3A p.Asp905Tyr (p.D905Y) ( ENST00000284601.4 )
PPP1R3A p.Asp905Tyr (p.D905Y) ( ENST00000284601.4 )
Associated Disease
type 2 diabetes mellitus
Source Database
ClinVar
Description
NM_002711.4(PPP1R3A):c.2713G>T (p.Asp905Tyr) AND Type 2 diabetes mellitus
ClinVar Allele ID
23745
ClinVar RefSeq Alternation Syntax
NM_002711.4:c.2713G>T
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2016-01-01
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001195983
ClinVar Disease
Type 2 diabetes mellitus
Observed Origin Sample
unknown
Drugs