Annotation Detail
Information
- Associated Genes
- COL7A1
- Associated Variants
-
COL7A1 p.Arg2791Trp (p.R2791W)
(
ENST00000328333.12,
ENST00000681320.1 )
COL7A1 p.Arg2791Trp (p.R2791W) ( ENST00000328333.12, ENST00000681320.1 ) - Associated Disease
- recessive dystrophic epidermolysis bullosa
- Source Database
- ClinVar
- Description
- NM_000094.4(COL7A1):c.8371C>T (p.Arg2791Trp) AND Recessive dystrophic epidermolysis bullosa
- ClinVar Allele ID
- 209348
- ClinVar RefSeq Alternation Syntax
- NM_000094.4:c.8371C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000193478
- ClinVar Disease
- Recessive dystrophic epidermolysis bullosa
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs