Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Val964Leu (p.V964L)
(
ENST00000713769.1,
ENST00000355349.4,
ENST00000713768.1 )
MYH7 p.Val964Leu (p.V964L) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- hypertrophic cardiomyopathy 1
- Source Database
- ClinVar
- Description
- NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) AND Hypertrophic cardiomyopathy 1
- ClinVar Allele ID
- 52108
- ClinVar RefSeq Alternation Syntax
- NM_000257.4:c.2890G>C
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2023-12-10
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000625843
- ClinVar Disease
- Hypertrophic cardiomyopathy 1
- Observed Origin Sample
- germline
- Observed Origin Sample
- inherited
- Observed Origin Sample
- unknown
Drugs