Annotation Detail
Information
- Associated Genes
- F11
- Associated Variants
-
F11 p.Arg228Ter (p.R228*)
(
ENST00000403665.7 )
F11 p.Arg228Ter (p.R228*) ( ENST00000403665.7 ) - Associated Disease
- Hereditary factor XI deficiency disease
- Source Database
- ClinVar
- Description
- NM_000128.4(F11):c.682C>T (p.Arg228Ter) AND Hereditary factor XI deficiency disease
- ClinVar Allele ID
- 186684
- ClinVar RefSeq Alternation Syntax
- NM_000128.4:c.682C>T
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2022-09-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000169125
- ClinVar Disease
- Hereditary factor XI deficiency disease
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs