Annotation Detail

Information
Associated Genes
MYH7 LOC126861898
Associated Variants
MYH7 p.Arg787His (p.R787H) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg787His (p.R787H) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) AND not provided
ClinVar Allele ID
52070
ClinVar RefSeq Alternation Syntax
NM_000257.4:c.2360G>A
Clinical Significance Description
Likely benign
Clinical Significance Last Update
2022-12-21
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001705651
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs