Annotation Detail

Information
Associated Genes
PPP1R3A
Associated Variants
PPP1R3A p.Asp905Tyr (p.D905Y) ( ENST00000284601.4 )
PPP1R3A p.Asp905Tyr (p.D905Y) ( ENST00000284601.4 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_002711.4(PPP1R3A):c.2713G>T (p.Asp905Tyr) AND not provided
ClinVar Allele ID
23745
ClinVar RefSeq Alternation Syntax
NM_002711.4:c.2713G>T
Clinical Significance Description
Benign
Clinical Significance Last Update
2018-11-12
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001636600
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs