Annotation Detail
Information
- Associated Genes
- COL7A1
- Associated Variants
-
COL7A1 p.Arg2069Cys (p.R2069C)
(
ENST00000328333.12,
ENST00000681320.1 )
COL7A1 p.Arg2069Cys (p.R2069C) ( ENST00000328333.12, ENST00000681320.1 ) - Associated Disease
- recessive dystrophic epidermolysis bullosa
- Source Database
- ClinVar
- Description
- NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) AND Recessive dystrophic epidermolysis bullosa
- ClinVar Allele ID
- 32502
- ClinVar RefSeq Alternation Syntax
- NM_000094.4:c.6205C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-03-14
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002276566
- ClinVar Disease
- Recessive dystrophic epidermolysis bullosa
- Observed Origin Sample
- germline
- Observed Origin Sample
- paternal
Drugs