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
- Atrial septal defect 3 Sick sinus syndrome 3, susceptibility to hypertrophic cardiomyopathy 14 hypertrophic cardiomyopathy 1 dilated cardiomyopathy 1EE
- Source Database
- ClinVar
- Description
- NM_002471.4(MYH6):c.226G>A (p.Val76Met) AND multiple conditions
- ClinVar Allele ID
- 528541
- ClinVar RefSeq Alternation Syntax
- NM_002471.4:c.226G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-09-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002477434
- ClinVar Disease
- Atrial septal defect 3
- ClinVar Disease
- Dilated cardiomyopathy 1EE
- ClinVar Disease
- Sick sinus syndrome 3, susceptibility to
- ClinVar Disease
- Hypertrophic cardiomyopathy 14
- ClinVar Disease
- Hypertrophic cardiomyopathy 1
- Observed Origin Sample
- unknown
Drugs