Annotation Detail
Information
- Associated Genes
- F5
- Associated Variants
-
F5 p.Lys858Arg (p.K858R)
(
ENST00000367796.3,
ENST00000367797.9 )
F5 p.Lys858Arg (p.K858R) ( ENST00000367796.3, ENST00000367797.9 ) - Associated Disease
- thrombophilia due to activated protein C resistance
- Source Database
- ClinVar
- Description
- NM_000130.5(F5):c.2573A>G (p.Lys858Arg) AND Thrombophilia due to activated protein C resistance
- ClinVar Allele ID
- 249509
- ClinVar RefSeq Alternation Syntax
- NM_000130.5:c.2573A>G
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2017-04-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000351409
- ClinVar Disease
- Thrombophilia due to activated protein C resistance
- Observed Origin Sample
- germline
Drugs