Annotation Detail

Information
Associated Genes
TREX1
Associated Variants
ATRIP c.*1313_*1314delTG, TREX1 p.Val71GlyfsTer30 (p.V71Gfs*30) ( ENST00000433541.1, ENST00000444177.1, ENST00000456089.1, ENST00000492235.2, ENST00000625293.3, ENST00000635452.2, ENST00000320211.10 )
ATRIP c.*1498delC, TREX1 p.Leu133CysfsTer27 (p.L133Cfs*27) ( 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 )
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.*1313_*1314delTG, TREX1 p.Val71GlyfsTer30 (p.V71Gfs*30) ( ENST00000433541.1, ENST00000444177.1, ENST00000456089.1, ENST00000492235.2, ENST00000625293.3, ENST00000635452.2, ENST00000320211.10 )
ATRIP c.*1498delC, TREX1 p.Leu133CysfsTer27 (p.L133Cfs*27) ( 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 )
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.*1153G>A, TREX1 p.Asp18Asn (p.D18N) ( ENST00000433541.1, ENST00000456089.1, ENST00000492235.2, ENST00000444177.1, ENST00000320211.10, ENST00000625293.3, ENST00000635452.2 )
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.*1442G>A, TREX1 p.Arg114His (p.R114H) ( ENST00000433541.1, ENST00000444177.1, ENST00000456089.1, ENST00000492235.2, ENST00000625293.3, ENST00000635452.2, ENST00000320211.10 )
ATRIP c.*1442G>C, TREX1 p.Arg114Pro (p.R114P) ( 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 )
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.*1699G>A, TREX1 p.Asp200Asn (p.D200N) ( ENST00000444177.1, ENST00000320211.10, ENST00000433541.1, ENST00000456089.1, ENST00000492235.2, ENST00000625293.3, ENST00000635452.2 )
ATRIP c.*1699G>T, TREX1 p.Asp200Tyr (p.D200Y) ( ENST00000433541.1, ENST00000444177.1, ENST00000456089.1, ENST00000492235.2, ENST00000625293.3, ENST00000635452.2, ENST00000320211.10 )
ATRIP c.*1703T>A, TREX1 p.Val201Asp (p.V201D) ( ENST00000433541.1, ENST00000444177.1, ENST00000456089.1, ENST00000492235.2, ENST00000625293.3, ENST00000635452.2, ENST00000320211.10 )
ATRIP c.*2008A>C, TREX1 p.Thr303Pro (p.T303P) ( ENST00000433541.1, ENST00000444177.1, ENST00000456089.1, ENST00000492235.2, ENST00000625293.3, ENST00000635452.2, ENST00000320211.10 )
ATRIP c.*1153G>A, TREX1 p.Asp18Asn (p.D18N) ( ENST00000444177.1, ENST00000625293.3, ENST00000433541.1, ENST00000456089.1, ENST00000492235.2, 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 )
ATRIP c.*1442G>A, TREX1 p.Arg114His (p.R114H) ( ENST00000433541.1, ENST00000444177.1, ENST00000456089.1, ENST00000492235.2, ENST00000625293.3, ENST00000635452.2, ENST00000320211.10 )
ATRIP c.*1442G>C, TREX1 p.Arg114Pro (p.R114P) ( 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 )
ATRIP c.*1591C>T, TREX1 p.Arg164Ter (p.R164*) ( ENST00000456089.1, ENST00000492235.2, ENST00000625293.3, ENST00000635452.2, ENST00000320211.10, ENST00000433541.1, ENST00000444177.1 )
ATRIP c.*1699G>A, TREX1 p.Asp200Asn (p.D200N) ( ENST00000444177.1, ENST00000625293.3, ENST00000433541.1, ENST00000456089.1, ENST00000492235.2, ENST00000635452.2, ENST00000320211.10 )
ATRIP c.*1699G>T, TREX1 p.Asp200Tyr (p.D200Y) ( ENST00000433541.1, ENST00000444177.1, ENST00000456089.1, ENST00000492235.2, ENST00000625293.3, ENST00000635452.2, ENST00000320211.10 )
ATRIP c.*1703T>A, TREX1 p.Val201Asp (p.V201D) ( ENST00000433541.1, ENST00000444177.1, ENST00000456089.1, ENST00000492235.2, ENST00000625293.3, ENST00000635452.2, ENST00000320211.10 )
ATRIP c.*2008A>C, TREX1 p.Thr303Pro (p.T303P) ( ENST00000433541.1, ENST00000444177.1, ENST00000456089.1, ENST00000492235.2, ENST00000625293.3, ENST00000635452.2, ENST00000320211.10 )
ATRIP c.*1159_*1160insG, TREX1 p.Glu20GlyfsTer82 (p.E20Gfs*82)
ATRIP c.*1313_*1314insTG, TREX1 p.Ala72GlyfsTer17 (p.A72Gfs*17)
ATRIP c.*1468_*1469insGGC, TREX1 p.Ala123delinsGlyPro (p.A123delinsGP)
ATRIP c.*1508_*1509insCCCCCTGCTCCAAGCA, TREX1 p.Glu137ProfsTer24 (p.E137Pfs*24)
ATRIP c.*1700_*1701insGAT, TREX1 p.Asp200delinsGluIle (p.D200delinsEI)
ATRIP c.*1728_*1729insCAGT, TREX1 p.Trp210GlnfsTer32 (p.W210Qfs*32)
ATRIP c.*1763_*1764insCTGCTCAGCATCTGTCAGTGGAGACCACAGGCCCTGCTGCGGTGGGTGGATGCC, TREX1 p.Ala221_His222insCysSerAlaSerValSerGlyAspHisArgProCysCysGlyGlyTrpMetPro (p.A221_H222insCSASVSGDHRPCCGGWMP)
ATRIP c.*1159_*1160insG, TREX1 p.Glu20GlyfsTer82 (p.E20Gfs*82)
ATRIP c.*1313_*1314insTG, TREX1 p.Ala72GlyfsTer17 (p.A72Gfs*17)
ATRIP c.*1468_*1469insGGC, TREX1 p.Ala123delinsGlyPro (p.A123delinsGP)
ATRIP c.*1508_*1509insCCCCCTGCTCCAAGCA, TREX1 p.Glu137ProfsTer24 (p.E137Pfs*24)
ATRIP c.*1700_*1701insGAT, TREX1 p.Asp200delinsGluIle (p.D200delinsEI)
ATRIP c.*1728_*1729insCAGT, TREX1 p.Trp210GlnfsTer32 (p.W210Qfs*32)
ATRIP c.*1763_*1764insCTGCTCAGCATCTGTCAGTGGAGACCACAGGCCCTGCTGCGGTGGGTGGATGCC, TREX1 p.Ala221_His222insCysSerAlaSerValSerGlyAspHisArgProCysCysGlyGlyTrpMetPro (p.A221_H222insCSASVSGDHRPCCGGWMP)
Associated Disease
Aicardi-Goutieres syndrome 1
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
CLINVAR
DisGENET score for the Gene Disease association
0.445971721185767
Year of publication
NA
Drugs