Annotation Detail
Information
- Associated Genes
- TREX1 ATRIP ATRIP-TREX1
- Associated Variants
-
ATRIP c.*2008A>C, TREX1 p.Thr303Pro (p.T303P)
(
ENST00000433541.1,
ENST00000444177.1,
ENST00000456089.1,
ENST00000492235.2,
ENST00000625293.3,
ENST00000635452.2,
ENST00000320211.10 )
ATRIP c.*2008A>C, TREX1 p.Thr303Pro (p.T303P) ( ENST00000433541.1, ENST00000444177.1, ENST00000456089.1, ENST00000492235.2, ENST00000625293.3, ENST00000635452.2, ENST00000320211.10 ) - Associated Disease
- Aicardi-Goutieres syndrome 1
- Source Database
- ClinVar
- Description
- NM_033629.6(TREX1):c.907A>C (p.Thr303Pro) AND Aicardi-Goutieres syndrome 1
- ClinVar Allele ID
- 131927
- ClinVar RefSeq Alternation Syntax
- NM_130384.3:c.*2008A>C
- ClinVar RefSeq Alternation Syntax
- NM_001271023.2:c.*2008A>C
- ClinVar RefSeq Alternation Syntax
- NM_007248.5:c.877A>C
- ClinVar RefSeq Alternation Syntax
- NM_032166.4:c.*2008A>C
- ClinVar RefSeq Alternation Syntax
- NM_033629.6:c.907A>C
- ClinVar RefSeq Alternation Syntax
- NR_153405.1:n.4216A>C
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000114335
- ClinVar Disease
- Aicardi-Goutieres syndrome 1
- Observed Origin Sample
- germline
Drugs