Annotation Detail
Information
- Associated Genes
- COL6A1
- Associated Variants
-
COL6A1 c.1056+1G>A
(
ENST00000361866.8 )
COL6A1 c.1056+1G>A ( ENST00000361866.8 ) - Associated Disease
- Bethlem myopathy 1A
- Source Database
- ClinVar
- Description
- NM_001848.3(COL6A1):c.1056+1G>A AND Bethlem myopathy 1A
- ClinVar Allele ID
- 32213
- ClinVar RefSeq Alternation Syntax
- NM_001848.3:c.1056+1G>A
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2023-11-13
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018714
- ClinVar Disease
- Bethlem myopathy 1A
- Observed Origin Sample
- germline
- Pubmed
- 10419498
- Pubmed
- 12840783
- Pubmed
- 17886299
- Pubmed
- 15955946
Drugs