Annotation Detail
Information
- Associated Genes
- F11
- Associated Variants
-
F11 p.Arg228Gln (p.R228Q)
(
ENST00000403665.7 )
F11 p.Arg228Gln (p.R228Q) ( ENST00000403665.7 ) - Associated Disease
- Hereditary factor XI deficiency disease
- Source Database
- ClinVar
- Description
- NM_000128.4(F11):c.683G>A (p.Arg228Gln) AND Hereditary factor XI deficiency disease
- ClinVar Allele ID
- 79087
- ClinVar RefSeq Alternation Syntax
- NM_000128.4:c.683G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2017-12-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000671612
- ClinVar Disease
- Hereditary factor XI deficiency disease
- Observed Origin Sample
- unknown
Drugs