Annotation Detail
Information
- Associated Genes
- COL7A1
- Associated Variants
-
COL7A1 p.Gln2827Ter (p.Q2827*)
(
ENST00000328333.12,
ENST00000681320.1 )
COL7A1 p.Gln2827Ter (p.Q2827*) ( ENST00000328333.12, ENST00000681320.1 ) - Associated Disease
- Epidermolysis bullosa dystrophica inversa, autosomal recessive
- Source Database
- ClinVar
- Description
- NM_000094.4(COL7A1):c.8479C>T (p.Gln2827Ter) AND Epidermolysis bullosa dystrophica inversa, autosomal recessive
- ClinVar Allele ID
- 38588
- ClinVar RefSeq Alternation Syntax
- NM_000094.4:c.8479C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2002-02-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000022477
- ClinVar Disease
- Epidermolysis bullosa dystrophica inversa, autosomal recessive
- Observed Origin Sample
- germline
- Pubmed
- 11843659
Drugs