Annotation Detail

Information
Associated Genes
F11
Associated Variants
F11 p.Tyr369Ter (p.Y369*) ( ENST00000403665.7 )
F11 p.Tyr369Ter (p.Y369*) ( ENST00000403665.7 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000128.4(F11):c.1107C>A (p.Tyr369Ter) AND not provided
ClinVar Allele ID
186690
ClinVar RefSeq Alternation Syntax
NM_000128.4:c.1107C>A
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2024-01-12
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001850404
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs