Annotation Detail
Information
- Associated Genes
- COL6A1
- Associated Variants
-
COL6A1 p.Gly526Val (p.G526V)
(
ENST00000361866.8 )
COL6A1 p.Gly526Val (p.G526V) ( ENST00000361866.8 ) - Associated Disease
- Bethlem myopathy 1A
- Source Database
- ClinVar
- Description
- NM_001848.3(COL6A1):c.1577G>T (p.Gly526Val) AND Bethlem myopathy 1A
- ClinVar Allele ID
- 32208
- ClinVar RefSeq Alternation Syntax
- NM_001848.3:c.1577G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1996-09-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018709
- ClinVar Disease
- Bethlem myopathy 1A
- Observed Origin Sample
- germline
- Pubmed
- 8782832
Drugs