Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Arg204Leu (p.R204L)
(
ENST00000713769.1,
ENST00000355349.4,
ENST00000713768.1 )
MYH7 p.Arg204Leu (p.R204L) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_000257.4(MYH7):c.611G>T (p.Arg204Leu) AND not specified
- ClinVar Allele ID
- 175656
- ClinVar RefSeq Alternation Syntax
- NM_000257.4:c.611G>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2014-04-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000154508
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs