chr3:48467523:CCACTGGGTCTGCTGGCC> Detail (hg38) (TREX1, ATRIP, ATRIP-TREX1)

Information

Genome

Assembly Position
hg19 chr3:48,508,922-48,508,939 
hg38 chr3:48,467,523-48,467,540

HGVS

Type Transcript Protein
RefSeq NM_130384.2:c.*1969_*1986delCCACTGGGTCTGCTGGCC
Ensemble ENST00000320211.10:c.*1969_*1986delCCACTGGGTCTGCTGGCC
Type Transcript Protein
RefSeq NM_007248.3:c.838_855delCCACTGGGTCTGCTGGCC NP_009179.2:p.Pro280_Ala285del
NM_016381.5:c.868_885delCCACTGGGTCTGCTGGCC NP_057465.1:p.Pro290_Ala295del
Ensemble ENST00000433541.1:c.451_468delCCACTGGGTCTGCTGGCC ENST00000433541.1:p.Pro151_Ala156del
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 606605 OMIM
HGNC 33499 HGNC
Ensembl ENSG00000164053 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv249746242 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 606609 OMIM
HGNC 12269 HGNC
Ensembl ENSG00000213689 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv249746242 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic aicardi-goutieres syndrome unknown MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-04-27 criteria provided, multiple submitters, no conflicts Aicardi-Goutieres syndrome 1 germline inherited Detail
Pathogenic 2023-12-22 criteria provided, single submitter Chilblain lupus 1,Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,Aicardi-Goutieres syndrome 1 germline Detail
Pathogenic 2023-12-22 criteria provided, single submitter Chilblain lupus 1,Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,Aicardi-Goutieres syndrome 1 germline Detail
Pathogenic 2023-12-22 criteria provided, single submitter Chilblain lupus 1,Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,Aicardi-Goutieres syndrome 1 germline Detail
Pathogenic Likely pathogenic 2023-04-07 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic 2022-03-29 criteria provided, single submitter systemic lupus erythematosus,Chilblain lupus 1,Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,Aicardi-Goutieres syndrome 1 unknown Detail
Likely pathogenic 2022-03-29 criteria provided, single submitter systemic lupus erythematosus,Chilblain lupus 1,Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,Aicardi-Goutieres syndrome 1 unknown Detail
Likely pathogenic 2022-03-29 criteria provided, single submitter systemic lupus erythematosus,Chilblain lupus 1,Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,Aicardi-Goutieres syndrome 1 unknown Detail
Likely pathogenic 2022-03-29 criteria provided, single submitter systemic lupus erythematosus,Chilblain lupus 1,Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,Aicardi-Goutieres syndrome 1 unknown Detail
Pathogenic criteria provided, single submitter Aicardi Goutieres syndrome paternal Detail
Pathogenic 2024-02-19 criteria provided, single submitter TREX1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.446 Aicardi-Goutieres syndrome 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) AND Aicardi-Goutieres syndrome 1 ClinVar Detail
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) AND multiple conditions ClinVar Detail
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) AND multiple conditions ClinVar Detail
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) AND multiple conditions ClinVar Detail
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) AND not provided ClinVar Detail
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) AND multiple conditions ClinVar Detail
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) AND multiple conditions ClinVar Detail
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) AND multiple conditions ClinVar Detail
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) AND multiple conditions ClinVar Detail
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) AND Aicardi Goutieres syndrome ClinVar Detail
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) AND TREX1-related disorder ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs79318303 dbSNP
Genome
hg38
Position
chr3:48,467,523-48,467,540
Variant Type
snv
Reference Allele
CCACTGGGTCTGCTGGCC
Alternative Allele
-
East Asian Chromosome Counts (ExAC)
8598
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120588
Allele Counts in All Race (ExAC)
8
Heterozygous Counts in All Race (ExAC)
8
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
6.63415928616446E-5
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