Annotation Detail
Information
- Associated Genes
- COL6A1
- Associated Variants
-
COL6A1 c.1056+1G>A
(
ENST00000361866.8 )
COL6A1 c.1056+1G>A ( ENST00000361866.8 ) - Source Database
- ClinVar
- Description
- NM_001848.3(COL6A1):c.1056+1G>A AND Abnormality of the musculature
- ClinVar Allele ID
- 32213
- ClinVar RefSeq Alternation Syntax
- NM_001848.3:c.1056+1G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-07-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001813996
- Observed Origin Sample
- de novo
Drugs