Annotation Detail
Information
- Associated Genes
- COL6A1
- Associated Variants
-
COL6A1 p.Gly284Arg (p.G284R)
(
ENST00000361866.8 )
COL6A1 p.Gly284Arg (p.G284R) ( ENST00000361866.8 ) - Associated Disease
- Ullrich congenital muscular dystrophy 1A
- Source Database
- ClinVar
- Description
- NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg) AND Ullrich congenital muscular dystrophy 1A
- Observed Origin Sample
- germline
- Observed Origin Sample
- paternal
- Observed Origin Sample
- unknown
- ClinVar Allele ID
- 32219
- ClinVar RefSeq Alternation Syntax
- NM_001848.3:c.850G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-10-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000180574
- ClinVar Disease
- Ullrich congenital muscular dystrophy 1A
Drugs