Annotation Detail
Information
- Associated Genes
- F11
- Associated Variants
-
F11 p.Lys101Arg (p.K101R)
(
ENST00000403665.7,
ENST00000492972.6 )
F11 p.Lys101Arg (p.K101R) ( ENST00000403665.7, ENST00000492972.6 ) - Associated Disease
- Hereditary factor XI deficiency disease
- Source Database
- ClinVar
- Description
- NM_000128.4(F11):c.302A>G (p.Lys101Arg) AND Hereditary factor XI deficiency disease
- ClinVar Allele ID
- 79083
- ClinVar RefSeq Alternation Syntax
- NM_001354804.2:c.302A>G
- ClinVar RefSeq Alternation Syntax
- NM_000128.4:c.302A>G
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2019-02-01
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000667740
- ClinVar Disease
- Hereditary factor XI deficiency disease
- Observed Origin Sample
- unknown
Drugs