Annotation Detail
Information
- Associated Genes
- MYH7 LOC126861898
- Associated Variants
-
MYH7 p.Gly768Arg (p.G768R)
(
ENST00000713769.1,
ENST00000713768.1,
ENST00000355349.4 )
MYH7 p.Gly768Arg (p.G768R) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Source Database
- ClinVar
- Description
- NM_000257.4(MYH7):c.2302G>A (p.Gly768Arg) AND Cardiovascular phenotype
- ClinVar Allele ID
- 175624
- ClinVar RefSeq Alternation Syntax
- NM_000257.4:c.2302G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-05-04
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000621337
- Observed Origin Sample
- germline
Drugs