Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Ala728Val (p.A728V)
(
ENST00000713769.1,
ENST00000713768.1,
ENST00000355349.4 )
MYH7 p.Val606Met (p.V606M) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Ala728Val (p.A728V) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Val606Met (p.V606M) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- hypertrophic cardiomyopathy 1
- Source Database
- ClinVar
- Description
- NM_000257.3(MYH7):c.[1816G>A;2183C>T] AND Hypertrophic cardiomyopathy 1
- ClinVar Allele ID
- 29130
- ClinVar Allele ID
- 29150
- ClinVar RefSeq Alternation Syntax
- NM_000257.4:c.1816G>A
- ClinVar RefSeq Alternation Syntax
- NM_000257.4:c.2183C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2001-06-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015167
- ClinVar Disease
- Hypertrophic cardiomyopathy 1
- Observed Origin Sample
- germline
- Pubmed
- 11424919
Drugs