Annotation Detail
Information
- Associated Genes
- F11
- Associated Variants
-
F11 p.Glu135Ter (p.E135*)
(
ENST00000403665.7,
ENST00000492972.6 )
F11 p.Glu135Ter (p.E135*) ( ENST00000403665.7, ENST00000492972.6 ) - Associated Disease
- Inborn genetic diseases
- Source Database
- ClinVar
- Description
- NM_000128.4(F11):c.403G>T (p.Glu135Ter) AND Inborn genetic diseases
- ClinVar Allele ID
- 26930
- ClinVar RefSeq Alternation Syntax
- NM_000128.4:c.403G>T
- ClinVar RefSeq Alternation Syntax
- NM_001354804.2:c.403G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2014-09-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001266322
- ClinVar Disease
- Inborn genetic diseases
- Observed Origin Sample
- germline
Drugs