Annotation Detail
Information
- Associated Genes
- COL7A1
- Associated Variants
-
COL7A1 p.Gly2287Arg (p.G2287R)
(
ENST00000328333.12,
ENST00000681320.1 )
COL7A1 p.Gly2287Arg (p.G2287R) ( ENST00000328333.12, ENST00000681320.1 ) - Associated Disease
- nonsyndromic congenital nail disorder 8
- Source Database
- ClinVar
- Description
- NM_000094.4(COL7A1):c.6859G>A (p.Gly2287Arg) AND Nonsyndromic congenital nail disorder 8
- ClinVar Allele ID
- 32486
- ClinVar RefSeq Alternation Syntax
- NM_000094.4:c.6859G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1999-09-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000022473
- ClinVar Disease
- Nonsyndromic congenital nail disorder 8
- Observed Origin Sample
- germline
- Pubmed
- 7577595
- Pubmed
- 10469344
Drugs