Annotation Detail
Information
- Associated Genes
- F11
- Associated Variants
-
F11 p.Ala430Val (p.A430V)
(
ENST00000403665.7 )
F11 p.Ala430Val (p.A430V) ( ENST00000403665.7 ) - Associated Disease
- Hereditary factor XI deficiency disease
- Source Database
- ClinVar
- Description
- NM_000128.4(F11):c.1289C>T (p.Ala430Val) AND Hereditary factor XI deficiency disease
- ClinVar Allele ID
- 26938
- ClinVar RefSeq Alternation Syntax
- NM_000128.4:c.1289C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1999-12-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000012674
- ClinVar Disease
- Hereditary factor XI deficiency disease
- Observed Origin Sample
- germline
- Pubmed
- 10606881
Drugs