Annotation Detail

Information
Associated Genes
F11
Associated Variants
F11 p.Ile359TyrfsTer13 (p.I359Yfs*13) ( ENST00000403665.7 )
F11 p.Ile359TyrfsTer13 (p.I359Yfs*13) ( ENST00000403665.7 )
Associated Disease
F11-related disorder
Source Database
ClinVar
Description
NM_000128.4(F11):c.1075del (p.Ile359fs) AND F11-related disorder
ClinVar Allele ID
186689
ClinVar RefSeq Alternation Syntax
NM_000128.4:c.1075del
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2023-08-12
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV003416050
ClinVar Disease
F11-related disorder
Observed Origin Sample
germline
Drugs