Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Tyr283Asp (p.Y283D)
(
ENST00000355349.4,
ENST00000713768.1,
ENST00000713769.1 )
MYH7 p.Tyr283Asp (p.Y283D) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- Left ventricular noncompaction 5
- Source Database
- ClinVar
- Description
- NM_000257.4(MYH7):c.847T>G (p.Tyr283Asp) AND Left ventricular noncompaction 5
- ClinVar Allele ID
- 76983
- ClinVar RefSeq Alternation Syntax
- NM_000257.4:c.847T>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2011-02-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000056316
- ClinVar Disease
- Left ventricular noncompaction 5
- Observed Origin Sample
- germline
- Pubmed
- 21127202
Drugs