Annotation Detail

Information
Associated Genes
MYH6 LOC114827851
Associated Variants
MYH6 p.Val76Met (p.V76M) ( ENST00000405093.9 )
MYH6 p.Val76Met (p.V76M) ( ENST00000405093.9 )
Associated Disease
hypertrophic cardiomyopathy 14
Source Database
ClinVar
Description
NM_002471.4(MYH6):c.226G>A (p.Val76Met) AND Hypertrophic cardiomyopathy 14
ClinVar Allele ID
528541
ClinVar RefSeq Alternation Syntax
NM_002471.4:c.226G>A
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2023-01-06
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000647051
ClinVar Disease
Hypertrophic cardiomyopathy 14
Observed Origin Sample
germline
Drugs