Annotation Detail
Information
- Associated Genes
- COL7A1
- Associated Variants
-
COL7A1 p.Arg2791Trp (p.R2791W)
(
ENST00000328333.12,
ENST00000681320.1 )
COL7A1 p.Gly2076Asp (p.G2076D) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Gly2043Arg (p.G2043R) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Gly2040Ser (p.G2040S) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Gly2037Glu (p.G2037E) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Gly2034Arg (p.G2034R) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Gly2015Glu (p.G2015E) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Gly2006Asp (p.G2006D) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Arg2791Trp (p.R2791W) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Gly2076Asp (p.G2076D) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Gly2043Arg (p.G2043R) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Gly2040Ser (p.G2040S) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Gly2037Glu (p.G2037E) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Gly2034Arg (p.G2034R) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Gly2015Glu (p.G2015E) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Gly2006Asp (p.G2006D) ( ENST00000328333.12, ENST00000681320.1 ) - Associated Disease
- Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.48027144187208
- Year of publication
- NA
Drugs