Annotation Detail

Information
Associated Genes
MYH7
Associated Variants
MYH7 p.Glu536= (p.E536=) ( ENST00000713768.1, ENST00000355349.4, ENST00000713769.1 )
MYH7 p.Glu536= (p.E536=) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000257.4(MYH7):c.1608G>A (p.Glu536=) AND not provided
ClinVar Allele ID
52024
ClinVar RefSeq Alternation Syntax
NM_000257.4:c.1608G>A
Clinical Significance Description
Likely benign
Clinical Significance Last Update
2019-07-11
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001535411
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs