Annotation Detail

Information
Associated Genes
F5
Associated Variants
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) AND Ischemic stroke
F5 p.Arg534Gln (p.R534Q) ( ENST00000367796.3, ENST00000367797.9 )
Source Database
ClinVar
Description
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) AND hormonal contraceptives for systemic use response - Toxicity
ClinVar Allele ID
15681
ClinVar RefSeq Alternation Syntax
NM_000130.5:c.1601G>A
Clinical Significance Description
drug response
Clinical Significance Last Update
2021-03-24
Clinical Significance Review Status
reviewed by expert panel
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV003227589
Observed Origin Sample
germline
Drugs