Annotation Detail
Information
- Associated Genes
- F11
- Associated Variants
-
F11 p.Phe301Leu (p.F301L)
(
ENST00000403665.7 )
F11 p.Phe301Leu (p.F301L) ( ENST00000403665.7 ) - Associated Disease
- F11-related disorder
- Source Database
- ClinVar
- Description
- NM_000128.4(F11):c.901T>C (p.Phe301Leu) AND F11-related disorder
- ClinVar Allele ID
- 26931
- ClinVar RefSeq Alternation Syntax
- NM_000128.4:c.901T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-10-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003407319
- ClinVar Disease
- F11-related disorder
- Observed Origin Sample
- germline
Drugs