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 )
Associated Disease
Susceptibility to severe coronavirus disease (COVID-19) due to an impaired coagulation process
Source Database
ClinVar
Description
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) AND Susceptibility to severe coronavirus disease (COVID-19) due to an impaired coagulation process
ClinVar Allele ID
15681
ClinVar RefSeq Alternation Syntax
NM_000130.5:c.1601G>A
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2021-06-29
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001806997
ClinVar Disease
Susceptibility to severe coronavirus disease (COVID-19) due to an impaired coagulation process
Observed Origin Sample
germline
Drugs