Annotation Detail
Information
- Associated Genes
- TREX1 ATRIP ATRIP-TREX1
- Associated Variants
-
ATRIP c.*1441C>T, TREX1 p.Arg114Cys (p.R114C)
(
ENST00000433541.1,
ENST00000444177.1,
ENST00000456089.1,
ENST00000492235.2,
ENST00000625293.3,
ENST00000635452.2,
ENST00000320211.10 )
ATRIP c.*1441C>T, TREX1 p.Arg114Cys (p.R114C) ( ENST00000433541.1, ENST00000444177.1, ENST00000456089.1, ENST00000492235.2, ENST00000625293.3, ENST00000635452.2, ENST00000320211.10 ) - Associated Disease
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Chilblain lupus 1 systemic lupus erythematosus Aicardi-Goutieres syndrome 1
- Source Database
- ClinVar
- Description
- NM_033629.6(TREX1):c.340C>T (p.Arg114Cys) AND multiple conditions
- ClinVar Allele ID
- 205735
- ClinVar RefSeq Alternation Syntax
- NM_001271023.2:c.*1441C>T
- ClinVar RefSeq Alternation Syntax
- NM_007248.5:c.310C>T
- ClinVar RefSeq Alternation Syntax
- NR_153405.1:n.3649C>T
- ClinVar RefSeq Alternation Syntax
- NM_130384.3:c.*1441C>T
- ClinVar RefSeq Alternation Syntax
- NM_033629.6:c.340C>T
- ClinVar RefSeq Alternation Syntax
- NM_032166.4:c.*1441C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2018-10-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000763111
- ClinVar Disease
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
- ClinVar Disease
- Systemic lupus erythematosus
- ClinVar Disease
- Chilblain lupus 1
- ClinVar Disease
- Aicardi-Goutieres syndrome 1
- Observed Origin Sample
- unknown
Drugs