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: thrombophilia due to activated protein C resistance
Source Database: ClinVar
Description: NM_000130.4(F5):c.1601G>A (p.Arg534Gln) AND Thrombophilia due to activated protein C resistance
ClinVar Allele ID: 15681
ClinVar RefSeq Alternation Syntax: NM_000130.5:c.1601G>A
Clinical Significance Description: Conflicting interpretations of pathogenicity
Clinical Significance Last Update: 2024-03-29
Clinical Significance Review Status: criteria provided, conflicting interpretations
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000454249
ClinVar Disease: Thrombophilia due to activated protein C resistance
Observed Origin Sample: germline
Observed Origin Sample: unknown
Observed Origin Sample: maternal
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Drugs