Annotation Detail

Information
Associated Genes
ZNF469
Associated Variants
ZNF469 p.Arg2644Gln (p.R2644Q) ( ENST00000565624.3, ENST00000437464.1 )
ZNF469 p.Arg2644Gln (p.R2644Q) ( ENST00000437464.1, ENST00000565624.3 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_001367624.2(ZNF469):c.7931G>A (p.Arg2644Gln) AND not provided
ClinVar Allele ID
132459
ClinVar RefSeq Alternation Syntax
NM_001367624.2:c.7931G>A
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2023-02-16
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV002513946
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs