Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Ala1777Thr (p.A1777T)
(
ENST00000713769.1,
ENST00000355349.4,
ENST00000713768.1 )
MYH7 p.Ala1777Thr (p.A1777T) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- Idiopathic camptocormia
- Source Database
- ClinVar
- Description
- NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) AND Idiopathic camptocormia
- ClinVar Allele ID
- 175587
- ClinVar RefSeq Alternation Syntax
- NM_000257.4:c.5329G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2014-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000186557
- ClinVar Disease
- Idiopathic camptocormia
- Observed Origin Sample
- unknown
Drugs