Annotation Detail
Information
- Associated Genes
- COL6A1
- Associated Variants
-
COL6A1 p.Gly299Glu (p.G299E)
(
ENST00000361866.8 )
COL6A1 p.Gly299Glu (p.G299E) ( ENST00000361866.8 ) - Associated Disease
- Bethlem myopathy 1A
- Source Database
- ClinVar
- Description
- NM_001848.3(COL6A1):c.896G>A (p.Gly299Glu) AND Bethlem myopathy 1A
- ClinVar Allele ID
- 99798
- ClinVar RefSeq Alternation Syntax
- NM_001848.3:c.896G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-11-23
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001854408
- ClinVar Disease
- Bethlem myopathy 1A
- Observed Origin Sample
- germline
Drugs