Annotation Detail
Information
- Associated Genes
- ZFPM2 ZFPM2-AS1
- Associated Variants
-
ZFPM2 p.Ser657Gly (p.S657G)
(
ENST00000407775.7,
ENST00000517361.1,
ENST00000520492.5 )
ZFPM2 p.Ser657Gly (p.S657G) ( ENST00000407775.7, ENST00000517361.1, ENST00000520492.5 ) - Associated Disease
- tetralogy of Fallot
- Source Database
- ClinVar
- Description
- NM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly) AND Tetralogy of Fallot
- ClinVar Allele ID
- 21166
- ClinVar RefSeq Alternation Syntax
- NM_001362837.2:c.1573A>G
- ClinVar RefSeq Alternation Syntax
- NM_001362836.2:c.1810A>G
- ClinVar RefSeq Alternation Syntax
- NM_012082.4:c.1969A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2003-11-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000006501
- ClinVar Disease
- Tetralogy of Fallot
- Observed Origin Sample
- germline
- Pubmed
- 14517948
Drugs