Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Arg1832Cys (p.R1832C)
(
ENST00000713769.1,
ENST00000713768.1,
ENST00000355349.4 )
MYH7 p.Arg1832Cys (p.R1832C) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- Congenital myopathy with fiber type disproportion dilated cardiomyopathy 1S MYH7-related skeletal myopathy Myopathy, myosin storage, autosomal recessive hypertrophic cardiomyopathy 1 Myosin storage myopathy
- Source Database
- ClinVar
- Description
- NM_000257.4(MYH7):c.5494C>T (p.Arg1832Cys) AND multiple conditions
- ClinVar Allele ID
- 171159
- ClinVar RefSeq Alternation Syntax
- NM_000257.4:c.5494C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-11-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002492544
- 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