Annotation Detail
Information
- Associated Genes
- F11
- Associated Variants
-
F11 p.Ala63Val (p.A63V)
(
ENST00000403665.7,
ENST00000492972.6 )
F11 p.Ala63Val (p.A63V) ( ENST00000403665.7, ENST00000492972.6 ) - Associated Disease
- Hereditary factor XI deficiency disease
- Source Database
- ClinVar
- Description
- NM_000128.4(F11):c.188C>T (p.Ala63Val) AND Hereditary factor XI deficiency disease
- ClinVar Allele ID
- 79082
- ClinVar RefSeq Alternation Syntax
- NM_000128.4:c.188C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354804.2:c.188C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2017-11-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000670641
- ClinVar Disease
- Hereditary factor XI deficiency disease
- Observed Origin Sample
- unknown
Drugs