Annotation Detail
Information
- Associated Genes
- COL6A1
- Associated Variants
-
COL6A1 p.Pro528= (p.P528=)
(
ENST00000361866.8 )
COL6A1 p.Pro528= (p.P528=) ( ENST00000361866.8 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_001848.3(COL6A1):c.1584G>A (p.Pro528=) AND not specified
- ClinVar Allele ID
- 257534
- ClinVar RefSeq Alternation Syntax
- NM_001848.3:c.1584G>A
- Clinical Significance Description
- Likely benign
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000253295
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs