Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Glu1220del (p.E1220del)
(
ENST00000713768.1,
ENST00000355349.4,
ENST00000713769.1 )
MYH7 p.Glu1220del (p.E1220del) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- left ventricular noncompaction
- Source Database
- ClinVar
- Description
- NM_000257.4(MYH7):c.3658_3660del (p.Glu1220del) AND Left ventricular noncompaction
- ClinVar Allele ID
- 52138
- ClinVar RefSeq Alternation Syntax
- NM_000257.4:c.3658_3660del
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2014-01-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000035861
- ClinVar Disease
- Left ventricular noncompaction
- Observed Origin Sample
- germline
Drugs