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 ) - Source Database
- ClinVar
- Description
- NM_001367624.2(ZNF469):c.7931G>A (p.Arg2644Gln) AND Cardiovascular phenotype
- ClinVar Allele ID
- 132459
- ClinVar RefSeq Alternation Syntax
- NM_001367624.2:c.7931G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-07-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002408615
- Observed Origin Sample
- germline
Drugs