Annotation Detail
Information
- Associated Genes
- COL7A1
- Associated Variants
-
COL7A1 p.Met2798Lys (p.M2798K)
(
ENST00000328333.12,
ENST00000681320.1 )
COL7A1 p.Met2798Lys (p.M2798K) ( ENST00000328333.12, ENST00000681320.1 ) - Associated Disease
- recessive dystrophic epidermolysis bullosa
- Source Database
- ClinVar
- Description
- NM_000094.4(COL7A1):c.8393T>A (p.Met2798Lys) AND Recessive dystrophic epidermolysis bullosa
- ClinVar Allele ID
- 32462
- ClinVar RefSeq Alternation Syntax
- NM_000094.4:c.8393T>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1993-05-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018969
- ClinVar Disease
- Recessive dystrophic epidermolysis bullosa
- Observed Origin Sample
- germline
- Pubmed
- 8513326
Drugs