Annotation Detail

Information
Associated Genes
ZNF469
Associated Variants
ZNF469 p.Thr3307Ala (p.T3307A) ( ENST00000437464.1, ENST00000565624.3 )
ZNF469 p.Thr3307Ala (p.T3307A) ( ENST00000437464.1, ENST00000565624.3 )
Source Database
ClinVar
Description
NM_001367624.2(ZNF469):c.9919A>G (p.Thr3307Ala) AND Cardiovascular phenotype
ClinVar Allele ID
132448
ClinVar RefSeq Alternation Syntax
NM_001367624.2:c.9919A>G
Clinical Significance Description
Likely benign
Clinical Significance Last Update
2019-05-10
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV002381415
Observed Origin Sample
germline
Drugs