Annotation Detail
Information
- Associated Genes
- MYH6 LOC114827851
- Associated Variants
-
MYH6 p.Ser118Leu (p.S118L)
(
ENST00000405093.9 )
MYH6 p.Ser118Leu (p.S118L) ( ENST00000405093.9 ) - Associated Disease
- hypertrophic cardiomyopathy 14
- Source Database
- ClinVar
- Description
- NM_002471.4(MYH6):c.353C>T (p.Ser118Leu) AND Hypertrophic cardiomyopathy 14
- ClinVar Allele ID
- 1048487
- ClinVar RefSeq Alternation Syntax
- NM_002471.4:c.353C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-11-25
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001360550
- ClinVar Disease
- Hypertrophic cardiomyopathy 14
- Observed Origin Sample
- germline
Drugs