Annotation Detail
Information
- Associated Genes
- COL7A1
- Associated Variants
-
COL7A1 p.Gln2827Ter (p.Q2827*)
(
ENST00000328333.12,
ENST00000681320.1 )
COL7A1 p.Arg2069Cys (p.R2069C) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Arg236Ter (p.R236*) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Lys142Arg (p.K142R) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Gln2827Ter (p.Q2827*) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Arg2069Cys (p.R2069C) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Arg236Ter (p.R236*) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Lys142Arg (p.K142R) ( ENST00000328333.12, ENST00000681320.1 ) - Associated Disease
- Epidermolysis bullosa dystrophica inversa, autosomal recessive
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.12
- Year of publication
- NA
Drugs