Annotation Detail
Information
- Associated Genes
- ZNF469
- Associated Variants
-
ZNF469 p.Arg1715Lys (p.R1715K)
(
ENST00000437464.1,
ENST00000565624.3 )
ZNF469 p.Arg1715Lys (p.R1715K) ( ENST00000437464.1, ENST00000565624.3 ) - Source Database
- ClinVar
- Description
- NM_001367624.2(ZNF469):c.5144G>A (p.Arg1715Lys) AND Cardiovascular phenotype
- ClinVar Allele ID
- 132456
- ClinVar RefSeq Alternation Syntax
- NM_001367624.2:c.5144G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-07-29
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002336248
- Observed Origin Sample
- germline
Drugs