Annotation Detail
Information
- Associated Genes
- COL7A1
- Associated Variants
-
COL7A1 p.Arg2063Trp (p.R2063W)
(
ENST00000328333.12,
ENST00000681320.1 )
COL7A1 p.Arg2063Trp (p.R2063W) ( ENST00000328333.12, ENST00000681320.1 ) - Associated Disease
- epidermolysis bullosa dystrophica
- Source Database
- ClinVar
- Description
- NM_000094.4(COL7A1):c.6187C>T (p.Arg2063Trp) AND Epidermolysis bullosa dystrophica
- ClinVar Allele ID
- 32495
- ClinVar RefSeq Alternation Syntax
- NM_000094.4:c.6187C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2017-10-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001352769
- ClinVar Disease
- Epidermolysis bullosa dystrophica
- Observed Origin Sample
- germline
Drugs