Annotation Detail
Information
- Associated Genes
- TREX1 ATRIP ATRIP-TREX1
- Associated Variants
-
ATRIP c.*1601delG, TREX1 p.Ser167ThrfsTer13 (p.S167Tfs*13)
(
ENST00000433541.1,
ENST00000444177.1,
ENST00000456089.1,
ENST00000492235.2,
ENST00000625293.3,
ENST00000635452.2,
ENST00000320211.10 )
ATRIP c.*1601delG, TREX1 p.Ser167ThrfsTer13 (p.S167Tfs*13) ( ENST00000433541.1, ENST00000444177.1, ENST00000456089.1, ENST00000492235.2, ENST00000625293.3, ENST00000635452.2, ENST00000320211.10 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_033629.6(TREX1):c.500del (p.Ser167fs) AND not provided
- ClinVar Allele ID
- 131922
- ClinVar RefSeq Alternation Syntax
- NR_153405.1:n.3809del
- ClinVar RefSeq Alternation Syntax
- NM_033629.6:c.500del
- ClinVar RefSeq Alternation Syntax
- NM_007248.5:c.470del
- ClinVar RefSeq Alternation Syntax
- NM_001271023.2:c.*1601del
- ClinVar RefSeq Alternation Syntax
- NM_032166.4:c.*1601del
- ClinVar RefSeq Alternation Syntax
- NM_130384.3:c.*1601del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2016-07-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000726332
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs