Annotation Detail
Information
- Associated Genes
- F11 F11-AS1
- Associated Variants
-
F11 p.Ile618Ser (p.I618S)
(
ENST00000403665.7 )
F11 p.Ile618Ser (p.I618S) ( ENST00000403665.7 ) - Associated Disease
- F11-related disorder
- Source Database
- ClinVar
- Description
- NM_000128.4(F11):c.1853T>G (p.Ile618Ser) AND F11-related disorder
- ClinVar Allele ID
- 79081
- ClinVar RefSeq Alternation Syntax
- NR_033900.1:n.905A>C
- ClinVar RefSeq Alternation Syntax
- NM_000128.4:c.1853T>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-11-29
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003905028
- ClinVar Disease
- F11-related disorder
- Observed Origin Sample
- germline
Drugs