Annotation Detail

Information
Associated Genes
MYH7
Associated Variants
MYH7 p.Ile524Val (p.I524V) ( ENST00000713768.1, ENST00000355349.4, ENST00000713769.1 )
MYH7 p.Ile524Val (p.I524V) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_000257.4(MYH7):c.1570A>G (p.Ile524Val) AND not specified
ClinVar Allele ID
175637
ClinVar RefSeq Alternation Syntax
NM_000257.4:c.1570A>G
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2015-04-08
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000154578
ClinVar Disease
not specified
Observed Origin Sample
germline
Drugs