Annotation Detail
Information
- Associated Genes
- COL7A1
- Associated Variants
-
COL7A1 p.Gly2653Arg (p.G2653R)
(
ENST00000328333.12,
ENST00000681320.1 )
COL7A1 p.Gly2653Arg (p.G2653R) ( ENST00000328333.12, ENST00000681320.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000094.4(COL7A1):c.7957G>A (p.Gly2653Arg) AND not provided
- ClinVar Allele ID
- 32497
- ClinVar RefSeq Alternation Syntax
- NM_000094.4:c.7957G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-11-27
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001203194
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs