Annotation Detail
Information
- Associated Genes
- MYH7 LOC126861897
- Associated Variants
-
MYH7 p.Cys1748Tyr (p.C1748Y)
(
ENST00000713769.1,
ENST00000355349.4,
ENST00000713768.1 )
MYH7 p.Cys1748Tyr (p.C1748Y) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- MYH7-related skeletal myopathy dilated cardiomyopathy 1S Myopathy, myosin storage, autosomal recessive Myosin storage myopathy hypertrophic cardiomyopathy 1
- Source Database
- ClinVar
- Description
- NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr) AND multiple conditions
- ClinVar Allele ID
- 178672
- ClinVar RefSeq Alternation Syntax
- NM_000257.4:c.5243G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-03-30
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003320115
- 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
- germline
Drugs