Annotation Detail

Information
Associated Genes
MYH7
Associated Variants
MYH7 p.Arg369Pro (p.R369P) ( ENST00000713769.1, ENST00000355349.4, ENST00000713768.1 )
MYH7 p.Arg369Pro (p.R369P) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_000257.4(MYH7):c.1106G>C (p.Arg369Pro) AND not specified
ClinVar Allele ID
175646
ClinVar RefSeq Alternation Syntax
NM_000257.4:c.1106G>C
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2014-01-06
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000151297
ClinVar Disease
not specified
Observed Origin Sample
germline
Drugs