Annotation Detail
Information
- Associated Genes
- COL6A1
- Associated Variants
-
COL6A1 p.Lys121Arg (p.K121R)
(
ENST00000361866.8 )
COL6A1 p.Lys121Arg (p.K121R) ( ENST00000361866.8 ) - Associated Disease
- Bethlem myopathy 1A
- Source Database
- ClinVar
- Description
- NM_001848.3(COL6A1):c.362A>G (p.Lys121Arg) AND Bethlem myopathy 1A
- ClinVar Allele ID
- 32212
- ClinVar RefSeq Alternation Syntax
- NM_001848.3:c.362A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-11-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018713
- ClinVar Disease
- Bethlem myopathy 1A
- Observed Origin Sample
- germline
- Pubmed
- 11865138
Drugs