Annotation Detail
Information
- Associated Genes
- EXO1
- Associated Variants
-
ATRIP c.*1153G>A, TREX1 p.Asp18Asn (p.D18N)
(
ENST00000433541.1,
ENST00000456089.1,
ENST00000492235.2,
ENST00000444177.1,
ENST00000320211.10,
ENST00000625293.3,
ENST00000635452.2 )
ATRIP c.*1153G>A, TREX1 p.Asp18Asn (p.D18N) ( ENST00000444177.1, ENST00000625293.3, ENST00000433541.1, ENST00000456089.1, ENST00000492235.2, ENST00000635452.2, ENST00000320211.10 ) - Associated Disease
- Chilblain lupus 1
- Source Database
- DisGeNET
- Description
- In this study, we report the identification of a heterozygous missense mutation (D18N) in TREX1 encoding the 3'-5'repair exonuclease 1 in affected individuals of the family with chilblain lupus.
- Pubmed
- 17440703
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2007
Drugs