Annotation Detail
Information
- Associated Genes
- ANKRD1
- Associated Variants
-
ANKRD1 p.Ala276Val (p.A276V)
(
ENST00000371697.4 )
ANKRD1 p.Ala276Val (p.A276V) ( ENST00000371697.4 ) - Associated Disease
- cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) AND Cardiomyopathy
- ClinVar Allele ID
- 54804
- ClinVar RefSeq Alternation Syntax
- NM_014391.3:c.827C>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2019-04-30
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000770301
- ClinVar Disease
- Cardiomyopathy
- Observed Origin Sample
- germline
Drugs