Annotation Detail
Information
- Associated Genes
- ANKRD1
- Associated Variants
-
ANKRD1 p.Ala276Val (p.A276V)
(
ENST00000371697.4 )
ANKRD1 p.Ala276Val (p.A276V) ( ENST00000371697.4 ) - Associated Disease
- Congenital total pulmonary venous return anomaly
- Source Database
- ClinVar
- Description
- NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) AND Congenital total pulmonary venous return anomaly
- ClinVar Allele ID
- 54804
- ClinVar RefSeq Alternation Syntax
- NM_014391.3:c.827C>T
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2016-10-19
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000614830
- ClinVar Disease
- Congenital total pulmonary venous return anomaly
- Observed Origin Sample
- germline
Drugs