Annotation Detail

Information
Associated Genes
ARID1A
Associated Variants
ARID1A p.Ala41Val (p.A41V) ( ENST00000324856.13, ENST00000457599.7, ENST00000430799.7 )
ARID1A p.Ala41Val (p.A41V) ( ENST00000324856.13, ENST00000430799.7, ENST00000457599.7 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_006015.6(ARID1A):c.122C>T (p.Ala41Val) AND not provided
ClinVar Allele ID
1087300
ClinVar RefSeq Alternation Syntax
NM_006015.6:c.122C>T
ClinVar RefSeq Alternation Syntax
NM_139135.4:c.122C>T
Clinical Significance Description
Benign
Clinical Significance Last Update
2023-10-15
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV003727995
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs