Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Arg243His (p.R243H)
(
ENST00000713769.1,
ENST00000713768.1,
ENST00000355349.4 )
MYH7 p.Arg243His (p.R243H) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- Left ventricular noncompaction 5
- Source Database
- ClinVar
- Description
- NM_000257.4(MYH7):c.728G>A (p.Arg243His) AND Left ventricular noncompaction 5
- ClinVar Allele ID
- 29165
- ClinVar RefSeq Alternation Syntax
- NM_000257.4:c.728G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2008-06-03
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015187
- ClinVar Disease
- Left ventricular noncompaction 5
- Observed Origin Sample
- germline
- Pubmed
- 12749056
- Pubmed
- 18506004
- Pubmed
- 16267253
Drugs