Annotation Detail
Information
- Associated Genes
- F11 F11-AS1
- Associated Variants
-
F11 p.Ser575Leu (p.S575L)
(
ENST00000403665.7 )
F11 p.Ser575Leu (p.S575L) ( ENST00000403665.7 ) - Associated Disease
- Hereditary factor XI deficiency disease
- Source Database
- ClinVar
- Description
- NM_000128.4(F11):c.1724C>T (p.Ser575Leu) AND Hereditary factor XI deficiency disease
- ClinVar Allele ID
- 79078
- ClinVar RefSeq Alternation Syntax
- NR_033900.1:n.1034G>A
- ClinVar RefSeq Alternation Syntax
- NM_000128.4:c.1724C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2016-03-30
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000454166
- ClinVar Disease
- Hereditary factor XI deficiency disease
- Observed Origin Sample
- germline
Drugs