Annotation Detail
Information
- Associated Genes
- F11 F11-AS1
- Associated Variants
-
F11 p.Glu597Lys (p.E597K)
(
ENST00000403665.7 )
F11 p.Glu597Lys (p.E597K) ( ENST00000403665.7 ) - Associated Disease
- Hereditary factor XI deficiency disease
- Source Database
- ClinVar
- Description
- NM_000128.4(F11):c.1789G>A (p.Glu597Lys) AND Hereditary factor XI deficiency disease
- ClinVar Allele ID
- 79079
- ClinVar RefSeq Alternation Syntax
- NR_033900.1:n.969C>T
- ClinVar RefSeq Alternation Syntax
- NM_000128.4:c.1789G>A
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2017-12-08
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000671144
- ClinVar Disease
- Hereditary factor XI deficiency disease
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs