Annotation Detail
Information
- Associated Genes
- TREX1 ATRIP ATRIP-TREX1
- Associated Variants
-
ATRIP c.*1466T>C, TREX1 p.Val122Ala (p.V122A)
(
ENST00000433541.1,
ENST00000444177.1,
ENST00000456089.1,
ENST00000492235.2,
ENST00000625293.3,
ENST00000635452.2,
ENST00000320211.10 )
ATRIP c.*1466T>C, TREX1 p.Val122Ala (p.V122A) ( 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.365T>C (p.Val122Ala) AND Aicardi-Goutieres syndrome 1
- ClinVar Allele ID
- 131918
- ClinVar RefSeq Alternation Syntax
- NM_007248.5:c.335T>C
- ClinVar RefSeq Alternation Syntax
- NM_033629.6:c.365T>C
- ClinVar RefSeq Alternation Syntax
- NR_153405.1:n.3674T>C
- ClinVar RefSeq Alternation Syntax
- NM_032166.4:c.*1466T>C
- ClinVar RefSeq Alternation Syntax
- NM_001271023.2:c.*1466T>C
- ClinVar RefSeq Alternation Syntax
- NM_130384.3:c.*1466T>C
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000114324
- ClinVar Disease
- Aicardi-Goutieres syndrome 1
- Observed Origin Sample
- germline
Drugs