Annotation Detail

Information
Associated Genes
MYH7
Associated Variants
MYH7 p.Ala26Val (p.A26V) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Ala26Val (p.A26V) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
Source Database
ClinVar
Description
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) AND Cardiovascular phenotype
ClinVar Allele ID
45929
ClinVar RefSeq Alternation Syntax
NM_000257.4:c.77C>T
Clinical Significance Description
Likely benign
Clinical Significance Last Update
2016-10-27
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000618296
Observed Origin Sample
germline
Drugs