Annotation Detail
Information
- Associated Genes
- COL7A1
- Associated Variants
-
COL7A1 p.Gly2031Ser (p.G2031S)
(
ENST00000328333.12,
ENST00000681320.1 )
COL7A1 p.Gly2031Ser (p.G2031S) ( ENST00000328333.12, ENST00000681320.1 ) - Associated Disease
- recessive dystrophic epidermolysis bullosa
- Source Database
- ClinVar
- Description
- NM_000094.4(COL7A1):c.6091G>A (p.Gly2031Ser) AND Recessive dystrophic epidermolysis bullosa
- ClinVar Allele ID
- 32485
- ClinVar RefSeq Alternation Syntax
- NM_000094.4:c.6091G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018997
- ClinVar Disease
- Recessive dystrophic epidermolysis bullosa
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 11167698
Drugs