Annotation Detail
Information
- Associated Genes
- COL7A1
- Associated Variants
-
COL7A1 p.Gly2251Glu (p.G2251E)
(
ENST00000328333.12,
ENST00000681320.1 )
COL7A1 p.Gly2251Glu (p.G2251E) ( ENST00000328333.12, ENST00000681320.1 ) - Associated Disease
- nonsyndromic congenital nail disorder 8
- Source Database
- ClinVar
- Description
- NM_000094.4(COL7A1):c.6752G>A (p.Gly2251Glu) AND Nonsyndromic congenital nail disorder 8
- ClinVar Allele ID
- 32475
- ClinVar RefSeq Alternation Syntax
- NM_000094.4:c.6752G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2007-05-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018985
- ClinVar Disease
- Nonsyndromic congenital nail disorder 8
- Observed Origin Sample
- germline
- Pubmed
- 17434045
- Pubmed
- 9856844
Drugs