Annotation Detail

Information
Associated Genes
MYH7
Associated Variants
MYH7 p.Arg169Gly (p.R169G) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg169Gly (p.R169G) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000257.4(MYH7):c.505A>G (p.Arg169Gly) AND not provided
ClinVar Allele ID
175657
ClinVar RefSeq Alternation Syntax
NM_000257.4:c.505A>G
Clinical Significance Description
Likely pathogenic
Clinical Significance Last Update
2015-02-09
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000223700
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs