Annotation Detail

Information
Associated Genes
MYH7
Associated Variants
MYH7 p.Arg453Ser (p.R453S) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg453Ser (p.R453S) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_000257.4(MYH7):c.1357C>A (p.Arg453Ser) AND not specified
ClinVar Allele ID
29168
ClinVar RefSeq Alternation Syntax
NM_000257.4:c.1357C>A
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2014-03-07
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000154254
ClinVar Disease
not specified
Observed Origin Sample
germline
Drugs