Annotation Detail
Information
- Associated Genes
- COL6A1
- Associated Variants
-
COL6A1 c.1056+2T>C
(
ENST00000361866.8 )
COL6A1 c.1056+2T>C ( ENST00000361866.8 ) - Associated Disease
- Bethlem myopathy 1A
- Source Database
- ClinVar
- Description
- NM_001848.3(COL6A1):c.1056+2T>C AND Bethlem myopathy 1A
- ClinVar Allele ID
- 32210
- ClinVar RefSeq Alternation Syntax
- NM_001848.3:c.1056+2T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1999-05-19
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018711
- ClinVar Disease
- Bethlem myopathy 1A
- Observed Origin Sample
- germline
- Pubmed
- 10329467
Drugs