Annotation Detail

Information
Associated Genes
F11
Associated Variants
F11 p.Arg228Gln (p.R228Q) ( ENST00000403665.7 )
F11 p.Arg228Gln (p.R228Q) ( ENST00000403665.7 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_000128.4(F11):c.683G>A (p.Arg228Gln) AND not specified
ClinVar Allele ID
79087
ClinVar RefSeq Alternation Syntax
NM_000128.4:c.683G>A
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2023-05-16
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV003235026
ClinVar Disease
not specified
Observed Origin Sample
germline
Drugs