Annotation Detail
Information
- Associated Genes
- TREX1 ATRIP ATRIP-TREX1
- Associated Variants
-
ATRIP c.*1969_*1986delCCACTGGGTCTGCTGGCC, TREX1 p.Pro290_Ala295del (p.P290_A295del)
(
ENST00000433541.1,
ENST00000444177.1,
ENST00000456089.1,
ENST00000492235.2,
ENST00000625293.3,
ENST00000635452.2,
ENST00000320211.10 )
ATRIP c.*1969_*1986delCCACTGGGTCTGCTGGCC, TREX1 p.Pro290_Ala295del (p.P290_A295del) ( 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.868_885del (p.Pro290_Ala295del) AND Aicardi-Goutieres syndrome 1
- ClinVar Allele ID
- 131926
- ClinVar RefSeq Alternation Syntax
- NM_130384.3:c.*1969_*1986del
- ClinVar RefSeq Alternation Syntax
- NM_033629.6:c.868_885del
- ClinVar RefSeq Alternation Syntax
- NR_153405.1:n.4177_4194del
- ClinVar RefSeq Alternation Syntax
- NM_001271023.2:c.*1969_*1986del
- ClinVar RefSeq Alternation Syntax
- NM_007248.5:c.838_855del
- ClinVar RefSeq Alternation Syntax
- NM_032166.4:c.*1969_*1986del
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2023-04-27
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000114334
- ClinVar Disease
- Aicardi-Goutieres syndrome 1
- Observed Origin Sample
- germline
- Observed Origin Sample
- inherited
Drugs