Annotation Detail
Information
- Associated Genes
- F11
- Associated Variants
-
F11 p.Cys146Ter (p.C146*)
(
ENST00000403665.7,
ENST00000492972.6 )
F11 p.Cys146Ter (p.C146*) ( ENST00000403665.7, ENST00000492972.6 ) - Associated Disease
- Plasma factor XI deficiency
- Source Database
- ClinVar
- Description
- NM_000128.4(F11):c.438C>A (p.Cys146Ter) AND Plasma factor XI deficiency
- ClinVar Allele ID
- 26935
- ClinVar RefSeq Alternation Syntax
- NM_000128.4:c.438C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354804.2:c.438C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-08-28
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001826459
- ClinVar Disease
- Plasma factor XI deficiency
- Observed Origin Sample
- germline
Drugs