Annotation Detail
Information
- Associated Genes
- PPP1R3A
- Associated Variants
-
PPP1R3A p.Asp905Tyr (p.D905Y)
(
ENST00000284601.4 )
PPP1R3A p.Asp905Tyr (p.D905Y) ( ENST00000284601.4 ) - Associated Disease
- PPP1R3A-related disorder
- Source Database
- ClinVar
- Description
- NM_002711.4(PPP1R3A):c.2713G>T (p.Asp905Tyr) AND PPP1R3A-related disorder
- ClinVar Allele ID
- 23745
- ClinVar RefSeq Alternation Syntax
- NM_002711.4:c.2713G>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-10-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003974813
- ClinVar Disease
- PPP1R3A-related disorder
- Observed Origin Sample
- germline
Drugs