ATRIP (ATR interacting protein) - Rat Genome Database
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Gene: ATRIP (ATR interacting protein) Homo sapiens
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Symbol: ATRIP
Name: ATR interacting protein
RGD ID: 1625848
Description: This gene represents naturally occurring read-through transcription between adjacent genes ATRIP (ATR-interacting protein) and TREX1 (three-prime repair exonuclease 1). The read-through transcript does not encode a protein. [provided by RefSeq, Jan 2018]
Type: ncrna
RefSeq Status: VALIDATED
Also known as: ATM and Rad3-related-interacting protein; ATR-interacting protein; DKFZp762J2115; FLJ12343; MGC20625; MGC21482; MGC26740
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl348,446,710 - 48,467,645 (+)EnsemblGRCh38hg38GRCh38
GRCh38348,446,779 - 48,467,645 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37348,488,183 - 48,509,044 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36348,463,222 - 48,482,058 (+)NCBINCBI36hg18NCBI36
Celera348,438,989 - 48,457,913 (+)NCBI
Cytogenetic Map3p21.31NCBI
HuRef348,542,265 - 48,561,084 (+)NCBIHuRef
CHM1_1348,440,399 - 48,459,354 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:10391904   PMID:11278605  


Genomics

Comparative Map Data
ATRIP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl348,446,710 - 48,467,645 (+)EnsemblGRCh38hg38GRCh38
GRCh38348,446,779 - 48,467,645 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37348,488,183 - 48,509,044 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36348,463,222 - 48,482,058 (+)NCBINCBI36hg18NCBI36
Celera348,438,989 - 48,457,913 (+)NCBI
Cytogenetic Map3p21.31NCBI
HuRef348,542,265 - 48,561,084 (+)NCBIHuRef
CHM1_1348,440,399 - 48,459,354 (+)NCBICHM1_1
Atrip-trex1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm399108,887,001 - 108,903,165 (-)NCBIGRCm39mm39
GRCm39 Ensembl9108,887,001 - 108,903,192 (-)Ensembl
GRCm389109,057,933 - 109,074,097 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl9109,057,933 - 109,074,124 (-)EnsemblGRCm38mm10GRCm38
MGSCv379108,962,261 - 108,976,638 (-)NCBIGRCm37mm9NCBIm37
MGSCv369108,917,155 - 108,931,517 (-)NCBImm8
Celera9108,618,529 - 108,632,920 (-)NCBICelera
Cytogenetic Map9F2NCBI
Atrip
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.28109,708,440 - 109,722,511 (-)NCBI
Rnor_6.0 Ensembl8117,797,842 - 117,811,975 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.08117,797,954 - 117,811,989 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.08117,149,699 - 117,163,734 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.48114,073,321 - 114,087,356 (-)NCBIRGSC3.4rn4RGSC3.4
Celera8108,999,733 - 109,013,768 (-)NCBICelera
Cytogenetic Map8q32NCBI
Atrip
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955532516,753 - 533,498 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955532516,772 - 533,774 (+)NCBIChiLan1.0ChiLan1.0
ATRIP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1349,450,861 - 49,469,351 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl349,450,991 - 49,469,351 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0348,368,775 - 48,387,698 (+)NCBIMhudiblu_PPA_v0panPan3
Atrip
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936529245,134 - 264,456 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ATRIP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1331,159,843 - 31,179,098 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11331,159,849 - 31,178,716 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21334,563,866 - 34,575,045 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103227590
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1229,849,439 - 9,869,654 (+)NCBI
ChlSab1.1 Ensembl229,849,570 - 9,869,553 (+)Ensembl
Atrip
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247302,413,474 - 2,431,012 (+)NCBI

Position Markers
STS-Z41083  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37348,506,987 - 48,507,040UniSTSGRCh37
Build 36348,481,991 - 48,482,044RGDNCBI36
Celera348,457,846 - 48,457,899RGD
Cytogenetic Map3p21.31UniSTS
HuRef348,561,017 - 48,561,070UniSTS
GeneMap99-GB4 RH Map3158.56UniSTS
WI-21042  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37348,506,972 - 48,507,048UniSTSGRCh37
Build 36348,481,976 - 48,482,052RGDNCBI36
Celera348,457,831 - 48,457,907RGD
Cytogenetic Map3p21.31UniSTS
HuRef348,561,002 - 48,561,078UniSTS
GeneMap99-GB4 RH Map3157.44UniSTS
Whitehead-RH Map3196.7UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2648
Count of miRNA genes:883
Interacting mature miRNAs:1057
Transcripts:ENST00000320211, ENST00000346691, ENST00000357105, ENST00000412052, ENST00000421175, ENST00000424906, ENST00000454733, ENST00000491468
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 117 116 579 12 504 11 1469 53 936 36 880 664 1 114 1067
Low 2275 2852 1131 602 1364 444 2856 2128 2780 360 550 892 171 1 1090 1719 3 2
Below cutoff 44 22 12 5 71 6 31 14 17 23 28 51 2 1 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000320211   ⟹   ENSP00000323099
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl348,446,737 - 48,467,645 (+)Ensembl
RefSeq Acc Id: ENST00000346691   ⟹   ENSP00000302338
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl348,446,733 - 48,465,655 (+)Ensembl
RefSeq Acc Id: ENST00000357105   ⟹   ENSP00000349620
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl348,446,710 - 48,465,655 (+)Ensembl
RefSeq Acc Id: ENST00000412052   ⟹   ENSP00000400930
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl348,447,093 - 48,465,716 (+)Ensembl
RefSeq Acc Id: ENST00000634384   ⟹   ENSP00000489041
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl348,454,310 - 48,467,645 (+)Ensembl
RefSeq Acc Id: ENST00000635082   ⟹   ENSP00000489136
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl348,446,710 - 48,460,162 (+)Ensembl
RefSeq Acc Id: ENST00000635084
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl348,454,358 - 48,459,684 (+)Ensembl
RefSeq Acc Id: ENST00000635099   ⟹   ENSP00000489608
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl348,446,710 - 48,459,397 (+)Ensembl
RefSeq Acc Id: ENST00000635464   ⟹   ENSP00000489199
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl348,446,846 - 48,467,645 (+)Ensembl
RefSeq Acc Id: ENST00000639561   ⟹   ENSP00000491983
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl348,446,737 - 48,465,655 (+)Ensembl
RefSeq Acc Id: NR_153405
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38348,446,779 - 48,467,645 (+)NCBI
Sequence:
Promoters
RGD ID:6800662
Promoter ID:HG_KWN:44903
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000296443,   ENST00000357105,   OTTHUMT00000344692,   OTTHUMT00000344694,   OTTHUMT00000344696,   OTTHUMT00000344697,   OTTHUMT00000344704,   OTTHUMT00000344705,   UC003CTF.1,   UC003CTG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36348,461,821 - 48,464,347 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4 copy number gain See cases [RCV000133650] Chr3:45879883..50749922 [GRCh38]
Chr3:45921375..50787353 [GRCh37]
Chr3:45896379..50762357 [NCBI36]
Chr3:3p21.31-21.2
pathogenic
NM_130384.3(ATRIP):c.2278C>T (p.Arg760Ter) single nucleotide variant not provided [RCV000144698] Chr3:48465053 [GRCh38]
Chr3:48506452 [GRCh37]
Chr3:3p21.31
uncertain significance
NC_000003.12:g.48466894_48466897CAGC[1] microsatellite Aicardi Goutieres syndrome 1 [RCV001169857] Chr3:48466894..48466897 [GRCh38]
Chr3:48508293..48508296 [GRCh37]
Chr3:3p21.31
pathogenic
NM_033629.6(TREX1):c.846A>G (p.Leu282=) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV001145806]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV001145807] Chr3:48467501 [GRCh38]
Chr3:48508900 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_130384.3(ATRIP):c.336C>T (p.Phe112=) single nucleotide variant not provided [RCV000923094] Chr3:48450125 [GRCh38]
Chr3:48491531 [GRCh37]
Chr3:3p21.31
benign
NM_033629.6(TREX1):c.429C>T (p.Leu143=) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000951190] Chr3:48467084 [GRCh38]
Chr3:48508483 [GRCh37]
Chr3:3p21.31
likely benign
NM_130384.3(ATRIP):c.1974+8C>T single nucleotide variant not provided [RCV000924028] Chr3:48464140 [GRCh38]
Chr3:48505539 [GRCh37]
Chr3:3p21.31
likely benign
NM_130384.3(ATRIP):c.2235G>A (p.Leu745=) single nucleotide variant not provided [RCV000900865] Chr3:48465010 [GRCh38]
Chr3:48506409 [GRCh37]
Chr3:3p21.31
benign
NM_130384.3(ATRIP):c.1172G>A (p.Arg391Gln) single nucleotide variant not provided [RCV000902621] Chr3:48460226 [GRCh38]
Chr3:48501625 [GRCh37]
Chr3:3p21.31
likely benign
NM_130384.3(ATRIP):c.720A>G (p.Pro240=) single nucleotide variant not provided [RCV000943324] Chr3:48457307 [GRCh38]
Chr3:48498707 [GRCh37]
Chr3:3p21.31
likely benign
NM_033629.6(TREX1):c.339G>A (p.Arg113=) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000945539] Chr3:48466994 [GRCh38]
Chr3:48508393 [GRCh37]
Chr3:3p21.31
likely benign
NM_130384.3(ATRIP):c.1248C>T (p.Ala416=) single nucleotide variant not provided [RCV000923634] Chr3:48460302 [GRCh38]
Chr3:48501701 [GRCh37]
Chr3:3p21.31
likely benign
NM_130384.3(ATRIP):c.373A>C (p.Lys125Gln) single nucleotide variant not provided [RCV000884499] Chr3:48450162 [GRCh38]
Chr3:48491568 [GRCh37]
Chr3:3p21.31
benign
NM_033629.6(TREX1):c.894C>T (p.Thr298=) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000882360] Chr3:48467549 [GRCh38]
Chr3:48508948 [GRCh37]
Chr3:3p21.31
likely benign
NM_033629.6(TREX1):c.627G>A (p.Gln209=) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000970587] Chr3:48467282 [GRCh38]
Chr3:48508681 [GRCh37]
Chr3:3p21.31
likely benign
NM_130384.3(ATRIP):c.2215A>T (p.Met739Leu) single nucleotide variant not provided [RCV000906507] Chr3:48464990 [GRCh38]
Chr3:48506389 [GRCh37]
Chr3:3p21.31
likely benign
NM_130384.3(ATRIP):c.2131G>A (p.Asp711Asn) single nucleotide variant not provided [RCV000960244] Chr3:48464906 [GRCh38]
Chr3:48506305 [GRCh37]
Chr3:3p21.31
likely benign
NM_130384.3(ATRIP):c.1467C>T (p.Ser489=) single nucleotide variant not provided [RCV000899901] Chr3:48460521 [GRCh38]
Chr3:48501920 [GRCh37]
Chr3:3p21.31
benign
NM_130384.3(ATRIP):c.2105G>A (p.Arg702Gln) single nucleotide variant not provided [RCV000951252] Chr3:48464880 [GRCh38]
Chr3:48506279 [GRCh37]
Chr3:3p21.31
benign
NM_130384.3(ATRIP):c.1834C>T (p.Leu612=) single nucleotide variant not provided [RCV000964914] Chr3:48463833 [GRCh38]
Chr3:48505232 [GRCh37]
Chr3:3p21.31
benign
NM_033629.6(TREX1):c.535C>T (p.Leu179=) single nucleotide variant not provided [RCV000944414] Chr3:48467190 [GRCh38]
Chr3:48508589 [GRCh37]
Chr3:3p21.31
likely benign
NM_033629.6(TREX1):c.474G>A (p.Ala158=) single nucleotide variant not provided [RCV000924827] Chr3:48467129 [GRCh38]
Chr3:48508528 [GRCh37]
Chr3:3p21.31
likely benign
NM_130384.3(ATRIP):c.219A>G (p.Gln73=) single nucleotide variant not provided [RCV000922804] Chr3:48447064 [GRCh38]
Chr3:48488468 [GRCh37]
Chr3:3p21.31
likely benign
NM_033629.6(TREX1):c.416del (p.Ala139fs) deletion Aicardi Goutieres syndrome 1 [RCV001045764] Chr3:48467071 [GRCh38]
Chr3:48508470 [GRCh37]
Chr3:3p21.31
likely pathogenic
NM_033629.6(TREX1):c.191T>C (p.Val64Ala) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV001048363] Chr3:48466846 [GRCh38]
Chr3:48508245 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.247G>A (p.Glu83Lys) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV001051073] Chr3:48466902 [GRCh38]
Chr3:48508301 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.228_235CTGCAGCC[1] (p.Pro79fs) microsatellite Aicardi Goutieres syndrome 1 [RCV001054687] Chr3:48466882..48466889 [GRCh38]
Chr3:48508281..48508288 [GRCh37]
Chr3:3p21.31
pathogenic
NM_033629.6(TREX1):c.127G>T (p.Ala43Ser) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV001068389] Chr3:48466782 [GRCh38]
Chr3:48508181 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.757C>G (p.His253Asp) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV001069745] Chr3:48467412 [GRCh38]
Chr3:48508811 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.294dup (p.Cys99fs) duplication Aicardi Goutieres syndrome 1 [RCV000490271]|Aicardi Goutieres syndrome 1 [RCV000806372]|TREX1-Related Disorders [RCV000375716]|not provided [RCV001008124] Chr3:48466947..48466948 [GRCh38]
Chr3:48508346..48508347 [GRCh37]
Chr3:3p21.31
pathogenic|likely pathogenic|likely benign
NM_033629.6(TREX1):c.312G>C (p.Leu104=) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000278897]|Aicardi Goutieres syndrome 1 [RCV000887494]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000317526] Chr3:48466967 [GRCh38]
Chr3:48508366 [GRCh37]
Chr3:3p21.31
likely benign|uncertain significance
NM_033629.6(TREX1):c.462T>C (p.Asp154=) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000307455]|Aicardi Goutieres syndrome 1 [RCV000544168]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000402965] Chr3:48467117 [GRCh38]
Chr3:48508516 [GRCh37]
Chr3:3p21.31
benign|likely benign
NM_033629.6(TREX1):c.-100C>T single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000407940]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000279224] Chr3:48466236 [GRCh38]
Chr3:48507635 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.599_601dup (p.Asp200dup) duplication Aicardi Goutieres syndrome 1 [RCV000004399]|Aicardi Goutieres syndrome 1 [RCV001063407] Chr3:48467251..48467252 [GRCh38]
Chr3:48508650..48508651 [GRCh37]
Chr3:3p21.31
pathogenic|likely pathogenic
NM_033629.6(TREX1):c.899C>T (p.Ala300Val) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000547786] Chr3:48467554 [GRCh38]
Chr3:48508953 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_130384.3(ATRIP):c.*665C>T single nucleotide variant Aicardi Goutieres syndrome [RCV000282621]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000337669] Chr3:48466219 [GRCh38]
Chr3:48507618 [GRCh37]
Chr3:3p21.31
likely benign
NM_033629.6(TREX1):c.32T>G (p.Met11Arg) single nucleotide variant not provided [RCV000762113] Chr3:48466687 [GRCh38]
Chr3:48508086 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.914A>G (p.Tyr305Cys) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV001246998]|not provided [RCV000762114] Chr3:48467569 [GRCh38]
Chr3:48508968 [GRCh37]
Chr3:3p21.31
likely pathogenic|likely benign|uncertain significance
NM_033629.6(TREX1):c.609_662dup (p.Leu204_Ala221dup) duplication Aicardi Goutieres syndrome 1 [RCV000114332] Chr3:48467261..48467262 [GRCh38]
Chr3:48508660..48508661 [GRCh37]
Chr3:3p21.31
pathogenic
NM_033629.6(TREX1):c.198G>A (p.Lys66=) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000265759]|Aicardi Goutieres syndrome 1 [RCV000533810]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000318491]|not specified [RCV000516659] Chr3:48466853 [GRCh38]
Chr3:48508252 [GRCh37]
Chr3:3p21.31
benign|likely benign
NM_033629.6(TREX1):c.145A>G (p.Thr49Ala) single nucleotide variant not specified [RCV000521731] Chr3:48466800 [GRCh38]
Chr3:48508199 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_130384.3(ATRIP):c.*272del deletion Aicardi Goutieres syndrome [RCV000368756]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000273941] Chr3:48465825 [GRCh38]
Chr3:48507224 [GRCh37]
Chr3:3p21.31
likely benign
NM_033629.6(TREX1):c.391T>G (p.Phe131Val) single nucleotide variant not provided [RCV000484763] Chr3:48467046 [GRCh38]
Chr3:48508445 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_130384.3(ATRIP):c.*576G>T single nucleotide variant Aicardi Goutieres syndrome [RCV000325692]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000270579] Chr3:48466130 [GRCh38]
Chr3:48507529 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.869C>T (p.Pro290Leu) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000698766] Chr3:48467524 [GRCh38]
Chr3:48508923 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.581del (p.Ser194fs) deletion Aicardi Goutieres syndrome 1 [RCV000754080] Chr3:48467236 [GRCh38]
Chr3:48508635 [GRCh37]
Chr3:3p21.31
pathogenic
NM_130384.3(ATRIP):c.1855C>T (p.Leu619=) single nucleotide variant not provided [RCV000910257] Chr3:48463854 [GRCh38]
Chr3:48505253 [GRCh37]
Chr3:3p21.31
likely benign
NM_033629.6(TREX1):c.303T>C (p.Asp101=) single nucleotide variant not provided [RCV000939661] Chr3:48466958 [GRCh38]
Chr3:48508357 [GRCh37]
Chr3:3p21.31
likely benign
NM_130384.3(ATRIP):c.1476C>T (p.Val492=) single nucleotide variant not provided [RCV000897833] Chr3:48460530 [GRCh38]
Chr3:48501929 [GRCh37]
Chr3:3p21.31
likely benign
NM_033629.6(TREX1):c.843C>T (p.Ala281=) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000953473] Chr3:48467498 [GRCh38]
Chr3:48508897 [GRCh37]
Chr3:3p21.31
benign
NM_130384.3(ATRIP):c.1098T>C (p.Tyr366=) single nucleotide variant not provided [RCV000938166] Chr3:48460152 [GRCh38]
Chr3:48501551 [GRCh37]
Chr3:3p21.31
likely benign
NM_033629.6(TREX1):c.27G>T (p.Gly9=) single nucleotide variant not provided [RCV000904476] Chr3:48466682 [GRCh38]
Chr3:48508081 [GRCh37]
Chr3:3p21.31
likely benign
NM_130384.3(ATRIP):c.762T>C (p.Ser254=) single nucleotide variant not provided [RCV000898538] Chr3:48457349 [GRCh38]
Chr3:48498749 [GRCh37]
Chr3:3p21.31
likely benign
NM_033629.6(TREX1):c.933A>G (p.Thr311=) single nucleotide variant not provided [RCV000909710] Chr3:48467588 [GRCh38]
Chr3:48508987 [GRCh37]
Chr3:3p21.31
likely benign
NM_033629.6(TREX1):c.250A>G (p.Ile84Val) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000801550] Chr3:48466905 [GRCh38]
Chr3:48508304 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.625_628dup (p.Trp210fs) duplication Aicardi Goutieres syndrome 1 [RCV000114333] Chr3:48467277..48467278 [GRCh38]
Chr3:48508676..48508677 [GRCh37]
Chr3:3p21.31
pathogenic
NM_033629.6(TREX1):c.370C>G (p.His124Asp) single nucleotide variant not provided [RCV000494618] Chr3:48467025 [GRCh38]
Chr3:48508424 [GRCh37]
Chr3:3p21.31
likely pathogenic
NM_033629.6(TREX1):c.394C>G (p.Pro132Ala) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000393710]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000348530] Chr3:48467049 [GRCh38]
Chr3:48508448 [GRCh37]
Chr3:3p21.31
likely benign
NM_130384.3(ATRIP):c.*583A>G single nucleotide variant Aicardi Goutieres syndrome [RCV000285987]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000380457] Chr3:48466137 [GRCh38]
Chr3:48507536 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.418A>G (p.Met140Val) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000290171]|Aicardi Goutieres syndrome 1 [RCV000813186]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000347510] Chr3:48467073 [GRCh38]
Chr3:48508472 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV001082165]|Aicardi Goutieres syndrome [RCV000300719]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000262094]|not provided [RCV000431072]|not specified [RCV000082325] Chr3:48467452 [GRCh38]
Chr3:48508851 [GRCh37]
Chr3:3p21.31
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_033629.6(TREX1):c.536T>C (p.Leu179Pro) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000302094]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000359123] Chr3:48467191 [GRCh38]
Chr3:48508590 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.703dup (p.Val235fs) duplication Aicardi Goutieres syndrome 1 [RCV000795266]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000004403]|not provided [RCV000519088] Chr3:48467354..48467355 [GRCh38]
Chr3:48508753..48508754 [GRCh37]
Chr3:3p21.31
pathogenic
NM_130384.3(ATRIP):c.*495C>T single nucleotide variant Aicardi Goutieres syndrome [RCV000329267]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000365197] Chr3:48466049 [GRCh38]
Chr3:48507448 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.338G>A (p.Arg113Gln) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000692830] Chr3:48466993 [GRCh38]
Chr3:48508392 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.382C>T (p.Arg128Cys) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000644052] Chr3:48467037 [GRCh38]
Chr3:48508436 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.152_153del (p.Gln51fs) deletion not provided [RCV000318517] Chr3:48466807..48466808 [GRCh38]
Chr3:48508206..48508207 [GRCh37]
Chr3:3p21.31
pathogenic
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000626116]|Aicardi Goutieres syndrome 1 [RCV000764509]|Aicardi Goutieres syndrome 1 [RCV001219467]|not provided [RCV000656254] Chr3:48466873 [GRCh38]
Chr3:48508272 [GRCh37]
Chr3:3p21.31
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_033629.6(TREX1):c.912G>A (p.Leu304=) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000537156]|Aicardi Goutieres syndrome [RCV000260731]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000353208]|not specified [RCV000242644] Chr3:48467567 [GRCh38]
Chr3:48508966 [GRCh37]
Chr3:3p21.31
benign
NM_033629.6(TREX1):c.602T>A (p.Val201Asp) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000004400]|not provided [RCV001093076] Chr3:48467257 [GRCh38]
Chr3:48508656 [GRCh37]
Chr3:3p21.31
pathogenic
NM_033629.6(TREX1):c.400C>T (p.Leu134Phe) single nucleotide variant not provided [RCV000224613] Chr3:48467055 [GRCh38]
Chr3:48508454 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.*37T>C single nucleotide variant Aicardi Goutieres syndrome [RCV000332317]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000386027] Chr3:48467637 [GRCh38]
Chr3:48509036 [GRCh37]
Chr3:3p21.31
benign
NM_033629.6(TREX1):c.598G>A (p.Asp200Asn) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000114331]|Aicardi Goutieres syndrome 1, autosomal dominant [RCV000004402] Chr3:48467253 [GRCh38]
Chr3:48508652 [GRCh37]
Chr3:3p21.31
pathogenic
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000114329]|Aicardi Goutieres syndrome 1 [RCV000819829]|Aicardi Goutieres syndrome 1, autosomal dominant [RCV000004405]|Chilblain lupus 1 [RCV000004404]|not provided [RCV000323773] Chr3:48466707 [GRCh38]
Chr3:48508106 [GRCh37]
Chr3:3p21.31
pathogenic
NM_033629.6(TREX1):c.703_706dup (p.Thr236fs) duplication Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000004406] Chr3:48467357..48467358 [GRCh38]
Chr3:48508756..48508757 [GRCh37]
Chr3:3p21.31
pathogenic
NM_033629.6(TREX1):c.531= (p.Tyr177=) single nucleotide variant Aicardi Goutieres syndrome [RCV000405847]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000341237]|not provided [RCV000713867]|not specified [RCV000082324] Chr3:48467186 [GRCh38]
Chr3:48508585 [GRCh37]
Chr3:3p21.31
benign
NM_033629.6(TREX1):c.340C>T (p.Arg114Cys) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000191136]|Aicardi Goutieres syndrome 1 [RCV000763111] Chr3:48466995 [GRCh38]
Chr3:48508394 [GRCh37]
Chr3:3p21.31
likely pathogenic
NM_033629.6(TREX1):c.-26-110G>A single nucleotide variant not provided [RCV000713866] Chr3:48466520 [GRCh38]
Chr3:48507919 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.635del (p.Pro212fs) deletion TREX1-Related Disorders [RCV000779412] Chr3:48467289 [GRCh38]
Chr3:48508688 [GRCh37]
Chr3:3p21.31
likely pathogenic
NM_033629.6(TREX1):c.365T>C (p.Val122Ala) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000114324] Chr3:48467020 [GRCh38]
Chr3:48508419 [GRCh37]
Chr3:3p21.31
pathogenic
NM_033629.6(TREX1):c.366_368dup (p.Ala123dup) duplication Aicardi Goutieres syndrome 1 [RCV000114325]|Aicardi Goutieres syndrome 1 [RCV000850612] Chr3:48467020..48467021 [GRCh38]
Chr3:48508419..48508420 [GRCh37]
Chr3:3p21.31
pathogenic
NM_033629.6(TREX1):c.9G>A (p.Ser3=) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000364247]|Aicardi Goutieres syndrome 1 [RCV000952205]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000267295] Chr3:48466664 [GRCh38]
Chr3:48508063 [GRCh37]
Chr3:3p21.31
benign|likely benign|uncertain significance
NM_033629.6(TREX1):c.183G>A (p.Pro61=) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000324543]|Aicardi Goutieres syndrome 1 [RCV000644056]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000358290] Chr3:48466838 [GRCh38]
Chr3:48508237 [GRCh37]
Chr3:3p21.31
benign|likely benign|uncertain significance
NM_033629.6(TREX1):c.690G>C (p.Arg230Ser) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000697343] Chr3:48467345 [GRCh38]
Chr3:48508744 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.748dup (p.Thr250fs) duplication not provided [RCV000598961] Chr3:48467401..48467402 [GRCh38]
Chr3:48508800..48508801 [GRCh37]
Chr3:3p21.31
likely pathogenic
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr) single nucleotide variant not provided [RCV000433529] Chr3:48467322 [GRCh38]
Chr3:48508721 [GRCh37]
Chr3:3p21.31
likely pathogenic
NM_033629.6(TREX1):c.623G>C (p.Cys208Ser) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000691299] Chr3:48467278 [GRCh38]
Chr3:48508677 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.587C>T (p.Thr196Met) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000644053] Chr3:48467242 [GRCh38]
Chr3:48508641 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.251T>C (p.Ile84Thr) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000806591] Chr3:48466906 [GRCh38]
Chr3:48508305 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.695T>G (p.Met232Arg) single nucleotide variant not provided [RCV000494190] Chr3:48467350 [GRCh38]
Chr3:48508749 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.508G>T (p.Glu170Ter) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000761485] Chr3:48467163 [GRCh38]
Chr3:48508562 [GRCh37]
Chr3:3p21.31
pathogenic
NM_130384.3(ATRIP):c.*267T>C single nucleotide variant Aicardi Goutieres syndrome [RCV000314036]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000277604] Chr3:48465821 [GRCh38]
Chr3:48507220 [GRCh37]
Chr3:3p21.31
likely benign
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) deletion Aicardi Goutieres syndrome 1 [RCV000114334]|Aicardi Goutieres syndrome 1 [RCV000805420] Chr3:48467514..48467531 [GRCh38]
Chr3:48508913..48508930 [GRCh37]
Chr3:3p21.31
pathogenic
NM_033629.6(TREX1):c.907A>C (p.Thr303Pro) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000114335]|Aicardi Goutieres syndrome 1 [RCV000686683] Chr3:48467562 [GRCh38]
Chr3:48508961 [GRCh37]
Chr3:3p21.31
pathogenic|uncertain significance
NM_033629.6(TREX1):c.341G>A (p.Arg114His) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000004396]|Aicardi Goutieres syndrome 1 [RCV000850611]|Inborn genetic diseases [RCV001266495]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000388382]|Systemic lupus erythematosus, susceptibility to [RCV000004397]|not provided [RCV000256102] Chr3:48466996 [GRCh38]
Chr3:48508395 [GRCh37]
Chr3:3p21.31
pathogenic|likely pathogenic|risk factor|benign
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000004398]|not provided [RCV000378411] Chr3:48467145 [GRCh38]
Chr3:48508544 [GRCh37]
Chr3:3p21.31
pathogenic|likely pathogenic
NM_033629.6(TREX1):c.182C>A (p.Pro61Gln) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000987264] Chr3:48466837 [GRCh38]
Chr3:48508236 [GRCh37]
Chr3:3p21.31
likely pathogenic
NM_033629.6(TREX1):c.679G>A (p.Gly227Ser) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV001039343]|not provided [RCV000713868] Chr3:48467334 [GRCh38]
Chr3:48508733 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.531T>C (p.Tyr177=) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000558683] Chr3:48467186 [GRCh38]
Chr3:48508585 [GRCh37]
Chr3:3p21.31
benign
NM_033629.6(TREX1):c.739G>C (p.Ala247Pro) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000793452]|not provided [RCV000713870] Chr3:48467394 [GRCh38]
Chr3:48508793 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.144dup (p.Thr49fs) duplication not provided [RCV000512682] Chr3:48466792..48466793 [GRCh38]
Chr3:48508191..48508192 [GRCh37]
Chr3:3p21.31
pathogenic|likely pathogenic
NM_033629.6(TREX1):c.-68T>C single nucleotide variant Aicardi Goutieres syndrome [RCV000352883]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000406520]|not provided [RCV000840618] Chr3:48466268 [GRCh38]
Chr3:48507667 [GRCh37]
Chr3:3p21.31
benign
NM_033629.6(TREX1):c.206_207TG[5] (p.Ala72fs) microsatellite Aicardi Goutieres syndrome 1 [RCV000114323] Chr3:48466860..48466861 [GRCh38]
Chr3:48508259..48508260 [GRCh37]
Chr3:3p21.31
pathogenic
NM_033629.6(TREX1):c.500del (p.Ser167fs) deletion Aicardi Goutieres syndrome 1 [RCV000114328]|not provided [RCV000726332] Chr3:48467155 [GRCh38]
Chr3:48508554 [GRCh37]
Chr3:3p21.31
pathogenic
NM_033629.6(TREX1):c.388G>C (p.Asp130His) single nucleotide variant not provided [RCV000522259] Chr3:48467043 [GRCh38]
Chr3:48508442 [GRCh37]
Chr3:3p21.31
likely pathogenic
NM_033629.6(TREX1):c.393_408dup (p.Glu137fs) duplication Aicardi Goutieres syndrome 1 [RCV000114326] Chr3:48467047..48467048 [GRCh38]
Chr3:48508446..48508447 [GRCh37]
Chr3:3p21.31
pathogenic
NM_033629.6(TREX1):c.629G>A (p.Trp210Ter) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000408633] Chr3:48467284 [GRCh38]
Chr3:48508683 [GRCh37]
Chr3:3p21.31
pathogenic
NM_033629.6(TREX1):c.219G>A (p.Pro73=) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000686920]|not specified [RCV000517608] Chr3:48466874 [GRCh38]
Chr3:48508273 [GRCh37]
Chr3:3p21.31
likely benign|uncertain significance
NM_033629.6(TREX1):c.640G>A (p.Ala214Thr) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000808229] Chr3:48467295 [GRCh38]
Chr3:48508694 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.-60C>T single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000365442]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000313118] Chr3:48466276 [GRCh38]
Chr3:48507675 [GRCh37]
Chr3:3p21.31
likely benign
NM_033629.6(TREX1):c.829A>T (p.Lys277Ter) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000644051] Chr3:48467484 [GRCh38]
Chr3:48508883 [GRCh37]
Chr3:3p21.31
likely pathogenic
NM_033629.6(TREX1):c.484C>T (p.Leu162=) single nucleotide variant not provided [RCV000644054] Chr3:48467139 [GRCh38]
Chr3:48508538 [GRCh37]
Chr3:3p21.31
likely benign
NM_033629.6(TREX1):c.206_207TG[3] (p.Val71fs) microsatellite Aicardi Goutieres syndrome 1 [RCV000191137] Chr3:48466861..48466862 [GRCh38]
Chr3:48508260..48508261 [GRCh37]
Chr3:3p21.31
pathogenic
NM_033629.6(TREX1):c.554G>A (p.Arg185His) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV001150035]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV001150036] Chr3:48467209 [GRCh38]
Chr3:48508608 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.784C>T (p.Pro262Ser) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000824226] Chr3:48467439 [GRCh38]
Chr3:48508838 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_130384.3(ATRIP):c.744T>A (p.Pro248=) single nucleotide variant not provided [RCV000897432] Chr3:48457331 [GRCh38]
Chr3:48498731 [GRCh37]
Chr3:3p21.31
likely benign
NM_033629.6(TREX1):c.387C>T (p.Tyr129=) single nucleotide variant not provided [RCV000893035] Chr3:48467042 [GRCh38]
Chr3:48508441 [GRCh37]
Chr3:3p21.31
likely benign
NM_130384.3(ATRIP):c.2103G>A (p.Val701=) single nucleotide variant not provided [RCV000942049] Chr3:48464878 [GRCh38]
Chr3:48506277 [GRCh37]
Chr3:3p21.31
likely benign
NM_033629.6(TREX1):c.290G>A (p.Arg97His) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000490435]|not provided [RCV001093075] Chr3:48466945 [GRCh38]
Chr3:48508344 [GRCh37]
Chr3:3p21.31
pathogenic|likely pathogenic
NM_033629.6(TREX1):c.720G>C (p.Arg240Ser) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV001084349]|not provided [RCV000713869] Chr3:48467375 [GRCh38]
Chr3:48508774 [GRCh37]
Chr3:3p21.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_033629.6(TREX1):c.923C>G (p.Ser308Cys) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000764510]|Aicardi Goutieres syndrome 1 [RCV000812216]|not provided [RCV000416230] Chr3:48467578 [GRCh38]
Chr3:48508977 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.-26-1G>A single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000779411]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV001145581]|TREX1-Related Disorders [RCV000785138] Chr3:48466629 [GRCh38]
Chr3:48508028 [GRCh37]
Chr3:3p21.31
pathogenic|benign|uncertain significance
NM_033629.6(TREX1):c.-50_-47CTGC[4] microsatellite Aicardi Goutieres syndrome [RCV000404565]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000307137] Chr3:48466286..48466289 [GRCh38]
Chr3:48507685..48507688 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.397del (p.Leu133fs) deletion Aicardi Goutieres syndrome 1 [RCV000114327] Chr3:48467048 [GRCh38]
Chr3:48508447 [GRCh37]
Chr3:3p21.31
pathogenic|likely pathogenic
NM_033629.6(TREX1):c.58dup (p.Glu20fs) duplication Aicardi Goutieres syndrome 1 [RCV000114330] Chr3:48466711..48466712 [GRCh38]
Chr3:48508110..48508111 [GRCh37]
Chr3:3p21.31
pathogenic
NM_033629.6(TREX1):c.299T>C (p.Phe100Ser) single nucleotide variant not provided [RCV000728986] Chr3:48466954 [GRCh38]
Chr3:48508353 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.734C>G (p.Pro245Arg) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000820186] Chr3:48467389 [GRCh38]
Chr3:48508788 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_130384.3(ATRIP):c.*655G>C single nucleotide variant Aicardi Goutieres syndrome [RCV000322393]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV000376993] Chr3:48466209 [GRCh38]
Chr3:48507608 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.651G>A (p.Arg217=) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV000915247]|Aicardi Goutieres syndrome 1 [RCV001143910]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV001143911] Chr3:48467306 [GRCh38]
Chr3:48508705 [GRCh37]
Chr3:3p21.31
likely benign|uncertain significance
NM_033629.6(TREX1):c.346C>G (p.Pro116Ala) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV001145697]|Aicardi Goutieres syndrome 1 [RCV001222016]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV001145696]|not provided [RCV000998068] Chr3:48467001 [GRCh38]
Chr3:48508400 [GRCh37]
Chr3:3p21.31
likely benign|uncertain significance
NM_033629.6(TREX1):c.388G>A (p.Asp130Asn) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV001007852]|Aicardi Goutieres syndrome 1 [RCV001231973] Chr3:48467043 [GRCh38]
Chr3:48508442 [GRCh37]
Chr3:3p21.31
likely pathogenic|uncertain significance
NM_033629.6(TREX1):c.375dup (p.Gly126fs) duplication Chilblain lupus 1 [RCV000004401] Chr3:48467029..48467030 [GRCh38]
Chr3:48508428..48508429 [GRCh37]
Chr3:3p21.31
pathogenic
NM_033629.6(TREX1):c.908C>T (p.Thr303Ile) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV001202980] Chr3:48467563 [GRCh38]
Chr3:48508962 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.857G>A (p.Gly286Glu) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV001225702] Chr3:48467512 [GRCh38]
Chr3:48508911 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.23dup (p.Pro10fs) duplication Aicardi Goutieres syndrome 1 [RCV001225792] Chr3:48466673..48466674 [GRCh38]
Chr3:48508072..48508073 [GRCh37]
Chr3:3p21.31
pathogenic
NM_033629.6(TREX1):c.212T>C (p.Val71Ala) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV001205203] Chr3:48466867 [GRCh38]
Chr3:48508266 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.916G>A (p.Gly306Arg) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV001210409] Chr3:48467571 [GRCh38]
Chr3:48508970 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.728C>G (p.Pro243Arg) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV001241853] Chr3:48467383 [GRCh38]
Chr3:48508782 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.1A>G (p.Met1Val) single nucleotide variant Systemic lupus erythematosus [RCV001198990] Chr3:48466656 [GRCh38]
Chr3:48508055 [GRCh37]
Chr3:3p21.31
likely pathogenic
NM_033629.6(TREX1):c.649C>T (p.Arg217Trp) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV001150037]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV001150038] Chr3:48467304 [GRCh38]
Chr3:48508703 [GRCh37]
Chr3:3p21.31
benign|uncertain significance
NM_033629.6(TREX1):c.700G>T (p.Gly234Trp) single nucleotide variant not provided [RCV001090576] Chr3:48467355 [GRCh38]
Chr3:48508754 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_130384.3(ATRIP):c.1141C>T (p.Leu381=) single nucleotide variant not provided [RCV000910581] Chr3:48460195 [GRCh38]
Chr3:48501594 [GRCh37]
Chr3:3p21.31
likely benign
NM_033629.6(TREX1):c.21C>T (p.Pro7=) single nucleotide variant not provided [RCV000930509] Chr3:48466676 [GRCh38]
Chr3:48508075 [GRCh37]
Chr3:3p21.31
likely benign
NM_130384.3(ATRIP):c.2274C>T (p.Leu758=) single nucleotide variant not provided [RCV000949689] Chr3:48465049 [GRCh38]
Chr3:48506448 [GRCh37]
Chr3:3p21.31
benign
NM_130384.3(ATRIP):c.2163G>A (p.Arg721=) single nucleotide variant not provided [RCV000927780] Chr3:48464938 [GRCh38]
Chr3:48506337 [GRCh37]
Chr3:3p21.31
likely benign
NM_130384.3(ATRIP):c.2056-8del deletion not provided [RCV000919040] Chr3:48464823 [GRCh38]
Chr3:48506222 [GRCh37]
Chr3:3p21.31
likely benign
NM_130384.3(ATRIP):c.111C>T (p.Phe37=) single nucleotide variant not provided [RCV000972702] Chr3:48446956 [GRCh38]
Chr3:48488360 [GRCh37]
Chr3:3p21.31
benign
NM_130384.3(ATRIP):c.1366G>A (p.Val456Met) single nucleotide variant not provided [RCV000895142] Chr3:48460420 [GRCh38]
Chr3:48501819 [GRCh37]
Chr3:3p21.31
likely benign
NM_130384.3(ATRIP):c.1538T>C (p.Leu513Pro) single nucleotide variant not provided [RCV000895143] Chr3:48460592 [GRCh38]
Chr3:48501991 [GRCh37]
Chr3:3p21.31
likely benign
NM_130384.3(ATRIP):c.2337G>A (p.Ala779=) single nucleotide variant not provided [RCV000954893] Chr3:48465515 [GRCh38]
Chr3:48506914 [GRCh37]
Chr3:3p21.31
benign
NM_130384.3(ATRIP):c.81G>C (p.Gly27=) single nucleotide variant not provided [RCV000916656] Chr3:48446926 [GRCh38]
Chr3:48488330 [GRCh37]
Chr3:3p21.31
likely benign
NM_033629.6(TREX1):c.142_144del (p.Pro48del) deletion Aicardi Goutieres syndrome 1 [RCV001043538] Chr3:48466793..48466795 [GRCh38]
Chr3:48508192..48508194 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.73C>A (p.Pro25Thr) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV001239028] Chr3:48466728 [GRCh38]
Chr3:48508127 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.463A>G (p.Ser155Gly) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV001217178] Chr3:48467118 [GRCh38]
Chr3:48508517 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.473C>T (p.Ala158Val) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV001148457]|Aicardi Goutieres syndrome 1 [RCV001246935]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV001148458] Chr3:48467128 [GRCh38]
Chr3:48508527 [GRCh37]
Chr3:3p21.31
likely benign|uncertain significance
NM_130384.3(ATRIP):c.1066G>A (p.Gly356Arg) single nucleotide variant not provided [RCV000911254] Chr3:48460120 [GRCh38]
Chr3:48501519 [GRCh37]
Chr3:3p21.31
likely benign
NM_033629.6(TREX1):c.806del (p.Gly269fs) deletion not provided [RCV000998069] Chr3:48467458 [GRCh38]
Chr3:48508857 [GRCh37]
Chr3:3p21.31
likely pathogenic
NM_130384.3(ATRIP):c.1626T>G (p.Leu542=) single nucleotide variant not provided [RCV000912387] Chr3:48460680 [GRCh38]
Chr3:48502079 [GRCh37]
Chr3:3p21.31
likely benign
NM_033629.6(TREX1):c.796G>T (p.Glu266Ter) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV001036420] Chr3:48467451 [GRCh38]
Chr3:48508850 [GRCh37]
Chr3:3p21.31
likely pathogenic
NM_033629.6(TREX1):c.24G>A (p.Pro8=) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV001047254] Chr3:48466679 [GRCh38]
Chr3:48508078 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.184C>T (p.Arg62Cys) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV001069845] Chr3:48466839 [GRCh38]
Chr3:48508238 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.228_235CTGCAGCC[3] (p.Ser82fs) microsatellite Aicardi Goutieres syndrome 1 [RCV001041750] Chr3:48466881..48466882 [GRCh38]
Chr3:48508280..48508281 [GRCh37]
Chr3:3p21.31
pathogenic
NM_033629.6(TREX1):c.817C>G (p.Leu273Val) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV001055523] Chr3:48467472 [GRCh38]
Chr3:48508871 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.197A>G (p.Lys66Arg) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV001230075] Chr3:48466852 [GRCh38]
Chr3:48508251 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.284A>G (p.His95Arg) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV001230534] Chr3:48466939 [GRCh38]
Chr3:48508338 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.120C>T (p.His40=) single nucleotide variant not provided [RCV001093074] Chr3:48466775 [GRCh38]
Chr3:48508174 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.633A>C (p.Arg211Ser) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV001234005] Chr3:48467288 [GRCh38]
Chr3:48508687 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.935C>G (p.Pro312Arg) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV001068237] Chr3:48467590 [GRCh38]
Chr3:48508989 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.856_865dup (p.Ala289fs) duplication Systemic lupus erythematosus [RCV001197053] Chr3:48467509..48467510 [GRCh38]
Chr3:48508908..48508909 [GRCh37]
Chr3:3p21.31
pathogenic
NM_033629.6(TREX1):c.803G>C (p.Arg268Thr) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV001143912]|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [RCV001143913] Chr3:48467458 [GRCh38]
Chr3:48508857 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.427C>G (p.Leu143Val) single nucleotide variant Aicardi Goutieres syndrome 1 [RCV001036067] Chr3:48467082 [GRCh38]
Chr3:48508481 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.226G>T (p.Ala76Ser) single nucleotide variant not provided [RCV000993350] Chr3:48466881 [GRCh38]
Chr3:48508280 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033629.6(TREX1):c.143_144del (p.Pro48fs) deletion Aicardi Goutieres syndrome 1 [RCV001262861] Chr3:48466793..48466794 [GRCh38]
Chr3:48508192..48508193 [GRCh37]
Chr3:3p21.31
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:33499 AgrOrtholog
COSMIC ATRIP COSMIC
Ensembl Genes ENSG00000164053 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000635464 ENTREZGENE
GTEx ENSG00000164053 GTEx
Human Proteome Map ATRIP Human Proteome Map
NCBI Gene ATRIP-TREX1 ENTREZGENE
RNAcentral URS0000CCE03A RNACentral