Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Lys146Asn (p.K146N)
(
ENST00000713769.1,
ENST00000713768.1,
ENST00000355349.4 )
MYH7 p.Lys146Asn (p.K146N) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- hypertrophic cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_000257.4(MYH7):c.438G>T (p.Lys146Asn) AND Hypertrophic cardiomyopathy
- ClinVar Allele ID
- 52183
- ClinVar RefSeq Alternation Syntax
- NM_000257.4:c.438G>T
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2019-06-13
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000035907
- ClinVar Disease
- Hypertrophic cardiomyopathy
- Observed Origin Sample
- germline
Drugs