Annotation Detail
Information
- Associated Genes
- TREX1
- 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
- Aicardi-Goutieres syndrome
- Source Database
- DisGeNET
- Description
- A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.
- Pubmed
- 20799324
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.124343069953285
- Year of publication
- 2010
Drugs