Annotation Detail
Information
- Associated Genes
- COL7A1
- Associated Variants
-
COL7A1 p.Gly2251Ala (p.G2251A)
(
ENST00000328333.12,
ENST00000681320.1 )
COL7A1 p.Gly2251Glu (p.G2251E) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Gly1522Glu (p.G1522E) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Gly1519Asp (p.G1519D) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Gly2251Ala (p.G2251A) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Gly2251Glu (p.G2251E) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Gly1522Glu (p.G1522E) ( ENST00000328333.12, ENST00000681320.1 )
COL7A1 p.Gly1519Asp (p.G1519D) ( ENST00000328333.12, ENST00000681320.1 ) - Associated Disease
- transient bullous dermolysis of the newborn
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.480814325616241
- Year of publication
- NA
Drugs