Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Asp239Asn (p.D239N)
(
ENST00000713769.1,
ENST00000713768.1,
ENST00000355349.4 )
MYH7 p.Asp239Asn (p.D239N) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- MYH7-related skeletal myopathy Congenital myopathy with fiber type disproportion dilated cardiomyopathy 1S Myopathy, myosin storage, autosomal recessive hypertrophic cardiomyopathy 1 Myosin storage myopathy
- Source Database
- ClinVar
- Description
- NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) AND multiple conditions
- ClinVar Allele ID
- 52270
- ClinVar RefSeq Alternation Syntax
- NM_000257.4:c.715G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2018-10-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000762926
- ClinVar Disease
- Congenital myopathy with fiber type disproportion
- ClinVar Disease
- Dilated cardiomyopathy 1S
- ClinVar Disease
- Myosin storage myopathy
- ClinVar Disease
- MYH7-related skeletal myopathy
- ClinVar Disease
- Myopathy, myosin storage, autosomal recessive
- ClinVar Disease
- Hypertrophic cardiomyopathy 1
- Observed Origin Sample
- unknown
Drugs