Annotation Detail
Information
- Associated Genes
- TREX1 ATRIP ATRIP-TREX1
- Associated Variants
-
ATRIP c.*1591C>T, TREX1 p.Arg164Ter (p.R164*)
(
ENST00000433541.1,
ENST00000444177.1,
ENST00000456089.1,
ENST00000492235.2,
ENST00000625293.3,
ENST00000635452.2,
ENST00000320211.10 )
ATRIP c.*1591C>T, TREX1 p.Arg164Ter (p.R164*) ( ENST00000456089.1, ENST00000492235.2, ENST00000625293.3, ENST00000635452.2, ENST00000320211.10, ENST00000433541.1, ENST00000444177.1 ) - Associated Disease
- TREX1-related disorder
- Source Database
- ClinVar
- Description
- NM_033629.6(TREX1):c.490C>T (p.Arg164Ter) AND TREX1-related disorder
- ClinVar Allele ID
- 19219
- ClinVar RefSeq Alternation Syntax
- NR_153405.1:n.3799C>T
- ClinVar RefSeq Alternation Syntax
- NM_033629.6:c.490C>T
- ClinVar RefSeq Alternation Syntax
- NM_130384.3:c.*1591C>T
- ClinVar RefSeq Alternation Syntax
- NM_001271023.2:c.*1591C>T
- ClinVar RefSeq Alternation Syntax
- NM_007248.5:c.460C>T
- ClinVar RefSeq Alternation Syntax
- NM_032166.4:c.*1591C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-11-11
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004532286
- ClinVar Disease
- TREX1-related disorder
- Observed Origin Sample
- germline
Drugs