Annotation Detail
Information
- Associated Genes
- TGM1
- Associated Variants
-
TGM1 p.Asp490Gly (p.D490G)
(
ENST00000544573.5,
ENST00000206765.11 )
TGM1 p.Gly278Arg (p.G278R) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Asp490Gly (p.D490G) ( ENST00000206765.11, ENST00000544573.5 )
TGM1 p.Gly278Arg (p.G278R) ( ENST00000206765.11, ENST00000544573.5 ) - Associated Disease
- Self-Healing Collodion Baby
- Source Database
- DisGeNET
- Description
- In two self-healing collodion baby siblings with markedly diminished epidermal transglutaminase 1 activity we found the compound heterozygous transglutaminase 1 mutations G278R and D490G.
- Pubmed
- 12542526
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2003
Drugs