chr3:48467253:G>A Detail (hg38) (TREX1, ATRIP, ATRIP-TREX1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr3:48,508,652-48,508,652 View the variant detail on this assembly version.
hg38	chr3:48,467,253-48,467,253

HGVS

ATRIP
TREX1

Type	Transcript	Protein
RefSeq	NM_130384.2:c.*1699G>A
Ensemble	ENST00000320211.10:c.*1699G>A

Type	Transcript	Protein
RefSeq	NM_007248.3:c.568G>A	NP_009179.2:p.Asp190Asn
	NM_016381.5:c.598G>A	NP_057465.1:p.Asp200Asn
Ensemble	ENST00000444177.1:c.568G>A	ENST00000444177.1:p.Asp190Asn
	ENST00000625293.3:c.598G>A	ENST00000625293.3:p.Asp200Asn
	ENST00000433541.1:c.181G>A	ENST00000433541.1:p.Asp61Asn
	ENST00000456089.1:c.181G>A	ENST00000456089.1:p.Asp61Asn
	ENST00000492235.2:c.181G>A	ENST00000492235.2:p.Asp61Asn
	ENST00000635452.2:c.181G>A	ENST00000635452.2:p.Asp61Asn

Summary

MGeND

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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

ATRIP
TREX1

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
	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
	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		aicardi-goutieres syndrome	germline	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2011-09-16	no assertion criteria provided	Aicardi Goutieres syndrome 1, autosomal dominant	germline	Detail
Pathogenic	2014-03-13	no assertion criteria provided	Aicardi-Goutieres syndrome 1	germline	Detail
Pathogenic	2022-03-14	criteria provided, single submitter	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,Aicardi-Goutieres syndrome 1,Chilblain lupus 1	germline	Detail
Pathogenic	2022-03-14	criteria provided, single submitter	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,Aicardi-Goutieres syndrome 1,Chilblain lupus 1	germline	Detail
Pathogenic	2022-03-14	criteria provided, single submitter	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,Aicardi-Goutieres syndrome 1,Chilblain lupus 1	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT	NA	CLINVAR		Detail
0.363	Chilblain lupus 1	Further, the D200N- and D18N-containing TREX1 homo- and heterodimers inhibit the...	BeFree	18805785	Detail
0.446	Aicardi-Goutieres syndrome 1	NA	CLINVAR		Detail
0.363	Chilblain lupus 1	Mutations in TREX1 at positions Asp-18 and Asp-200 to His and Asn exhibit domina...	BeFree	24616097	Detail
0.124	Aicardi-Goutieres syndrome	Mutations in TREX1 at positions Asp-18 and Asp-200 to His and Asn exhibit domina...	BeFree	24616097	Detail
0.446	Aicardi-Goutieres syndrome 1	Mutations in TREX1 at positions Asp-18 and Asp-200 to His and Asn exhibit domina...	BeFree	24616097	Detail

Annotation

Annotations

Descrption	Source	Links
NM_033629.6(TREX1):c.598G>A (p.Asp200Asn) AND Aicardi Goutieres syndrome 1, autosomal dominant	ClinVar	Detail
NM_033629.6(TREX1):c.598G>A (p.Asp200Asn) AND Aicardi-Goutieres syndrome 1	ClinVar	Detail
NM_033629.6(TREX1):c.598G>A (p.Asp200Asn) AND multiple conditions	ClinVar	Detail
NM_033629.6(TREX1):c.598G>A (p.Asp200Asn) AND multiple conditions	ClinVar	Detail
NM_033629.6(TREX1):c.598G>A (p.Asp200Asn) AND multiple conditions	ClinVar	Detail
NA	DisGeNET	Detail
Further, the D200N- and D18N-containing TREX1 homo- and heterodimers inhibit the dsDNA degradation a...	DisGeNET	Detail
NA	DisGeNET	Detail
Mutations in TREX1 at positions Asp-18 and Asp-200 to His and Asn exhibit dominant autoimmune phenot...	DisGeNET	Detail
Mutations in TREX1 at positions Asp-18 and Asp-200 to His and Asn exhibit dominant autoimmune phenot...	DisGeNET	Detail
Mutations in TREX1 at positions Asp-18 and Asp-200 to His and Asn exhibit dominant autoimmune phenot...	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: rs78846775 dbSNP
Genome: hg38
Position: chr3:48,467,253-48,467,253
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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