Annotation Detail
Information
- Associated Genes
- COL7A1
- Associated Variants
-
COL7A1 p.Lys142Arg (p.K142R)
(
ENST00000328333.12,
ENST00000681320.1 )
COL7A1 p.Lys142Arg (p.K142R) ( ENST00000328333.12, ENST00000681320.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg) AND not provided
- ClinVar Allele ID
- 38590
- ClinVar RefSeq Alternation Syntax
- NM_000094.4:c.425A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-12-19
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000494404
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs