chr3:48466707:G>A Detail (hg38) (TREX1, ATRIP, ATRIP-TREX1)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr3:48,508,106-48,508,106 View the variant detail on this assembly version.
hg38	chr3:48,466,707-48,466,707

HGVS

ATRIP
TREX1

Type	Transcript	Protein
RefSeq	NM_130384.2:c.*1153G>A
Ensemble	ENST00000320211.10:c.*1153G>A

Type	Transcript	Protein
RefSeq	NM_007248.3:c.22G>A	NP_009179.2:p.Asp8Asn
	NM_016381.5:c.52G>A	NP_057465.1:p.Asp18Asn
Ensemble	ENST00000444177.1:c.22G>A	ENST00000444177.1:p.Asp8Asn
	ENST00000625293.3:c.52G>A	ENST00000625293.3:p.Asp18Asn
	ENST00000433541.1:c.-333-33G>A
	ENST00000456089.1:c.-8-358G>A
	ENST00000492235.2:c.-295-71G>A
	ENST00000635452.2:c.-333-33G>A

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
Show details

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
not provided		no assertion provided	Aicardi-Goutieres syndrome 1	germline	Detail
Pathogenic	2023-08-21	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2023-03-01	criteria provided, single submitter	Aicardi-Goutieres syndrome 1,Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,Chilblain lupus 1	germline	Detail
Pathogenic	2023-03-01	criteria provided, single submitter	Aicardi-Goutieres syndrome 1,Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,Chilblain lupus 1	germline	Detail
Pathogenic	2023-03-01	criteria provided, single submitter	Aicardi-Goutieres syndrome 1,Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,Chilblain lupus 1	germline	Detail
Pathogenic	2011-09-16	no assertion criteria provided	Chilblain lupus	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	Chilblain lupus 1	In this study, we report the identification of a heterozygous missense mutation ...	BeFree	17440703	Detail
0.120	AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT	NA	CLINVAR		Detail
0.003	Autoimmune Diseases	The TREX1 D18N mutation causes a monogenic, cutaneous form of lupus called famil...	BeFree	25848017	Detail
0.363	Chilblain lupus 1	Further, the D200N- and D18N-containing TREX1 homo- and heterodimers inhibit the...	BeFree	18805785	Detail
0.124	Aicardi-Goutieres syndrome	A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndr...	BeFree	20799324	Detail
0.446	Aicardi-Goutieres syndrome 1	NA	CLINVAR		Detail
<0.001	Kidney Diseases	The TREX1 D18N mice exhibit systemic inflammation, lymphoid hyperplasia, vasculi...	BeFree	25848017	Detail
0.446	Aicardi-Goutieres syndrome 1	A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndr...	BeFree	20799324	Detail

Annotation

Annotations

Descrption	Source	Links
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) AND Aicardi Goutieres syndrome 1, autosomal dominant	ClinVar	Detail
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) AND Aicardi-Goutieres syndrome 1	ClinVar	Detail
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) AND not provided	ClinVar	Detail
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) AND multiple conditions	ClinVar	Detail
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) AND multiple conditions	ClinVar	Detail
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) AND multiple conditions	ClinVar	Detail
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) AND Chilblain lupus	ClinVar	Detail
In this study, we report the identification of a heterozygous missense mutation (D18N) in TREX1 enco...	DisGeNET	Detail
NA	DisGeNET	Detail
The TREX1 D18N mutation causes a monogenic, cutaneous form of lupus called familial chilblain lupus,...	DisGeNET	Detail
Further, the D200N- and D18N-containing TREX1 homo- and heterodimers inhibit the dsDNA degradation a...	DisGeNET	Detail
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.	DisGeNET	Detail
NA	DisGeNET	Detail
The TREX1 D18N mice exhibit systemic inflammation, lymphoid hyperplasia, vasculitis, and kidney dise...	DisGeNET	Detail
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.	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: rs121908117 dbSNP
Genome: hg38
Position: chr3:48,466,707-48,466,707
Variant Type: snv
Reference Allele: G
Alternative Allele: A

Genome browser