Annotation Detail

Information
Associated Genes
ARMS2
Associated Variants
ARMS2 p.Ala69Ser (p.A69S) ( ENST00000528446.1 )
ARMS2 p.Ala69Ser (p.A69S) ( ENST00000528446.1 )
Associated Disease
ARMS2-related disorder
Source Database
ClinVar
Description
NM_001099667.3(ARMS2):c.205G>T (p.Ala69Ser) AND ARMS2-related disorder
ClinVar Allele ID
16018
ClinVar RefSeq Alternation Syntax
NM_001099667.3:c.205G>T
Clinical Significance Description
Benign
Clinical Significance Last Update
2019-09-11
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV003982819
ClinVar Disease
ARMS2-related disorder
Observed Origin Sample
germline
Drugs