chr3:48466996: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	chr3:48,508,395-48,508,395 View the variant detail on this assembly version.
hg38	chr3:48,466,996-48,466,996

HGVS

ATRIP
TREX1

Type	Transcript	Protein
RefSeq	NM_130384.2:c.*1442G>A
Ensemble	ENST00000320211.10:c.*1442G>A

Type	Transcript	Protein
RefSeq	NM_007248.3:c.311G>A	NP_009179.2:p.Arg104His
	NM_016381.5:c.341G>A	NP_057465.1:p.Arg114His
Ensemble	ENST00000433541.1:c.-77G>A
	ENST00000444177.1:c.311G>A	ENST00000444177.1:p.Arg104His
	ENST00000456089.1:c.-8-69G>A
	ENST00000492235.2:c.-77G>A
	ENST00000625293.3:c.341G>A	ENST00000625293.3:p.Arg114His
	ENST00000635452.2:c.-77G>A

Summary

MGeND

Clinical significance
Variant entry
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	Conflicting classifications of pathogenicity
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	tgv12367282	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	tgv12367282	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic Likely pathogenic	2023-05-18	criteria provided, multiple submitters, no conflicts	Aicardi-Goutieres syndrome 1	germline unknown	Detail
risk factor	2007-10-01	no assertion criteria provided	Systemic lupus erythematosus, susceptibility to	germline	Detail
Pathogenic	2024-01-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Benign	2017-04-27	criteria provided, single submitter	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	germline	Detail
Pathogenic	2024-01-31	criteria provided, multiple submitters, no conflicts	Aicardi-Goutieres syndrome 1,Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,Chilblain lupus 1	germline	Detail
Pathogenic	2024-01-31	criteria provided, multiple submitters, no conflicts	Aicardi-Goutieres syndrome 1,Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,Chilblain lupus 1	germline	Detail
Pathogenic	2024-01-31	criteria provided, multiple submitters, no conflicts	Aicardi-Goutieres syndrome 1,Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,Chilblain lupus 1	germline	Detail
Pathogenic	2018-05-16	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Likely benign	2022-06-04	no assertion criteria provided	Inborn genetic diseases,Aicardi-Goutieres syndrome 1,Chilblain lupus 1	unknown	Detail
Likely benign	2022-06-04	no assertion criteria provided	Inborn genetic diseases,Aicardi-Goutieres syndrome 1,Chilblain lupus 1	unknown	Detail
Likely benign	2022-06-04	no assertion criteria provided	Inborn genetic diseases,Aicardi-Goutieres syndrome 1,Chilblain lupus 1	unknown	Detail
Pathogenic	2023-11-09	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
0.446	Aicardi-Goutieres syndrome 1	The TREX1R114H/R114H homodimer has dysfunctional dsDNA and ssDNA degradation act...	BeFree	18805785	Detail
0.124	Aicardi-Goutieres syndrome	The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus rev...	BeFree	21937424	Detail
0.252	Lupus Erythematosus, Systemic	By comparison, the TREX1 R114H homozygous mutation causes AGS and is found as a ...	BeFree	18805785	Detail
0.446	Aicardi-Goutieres syndrome 1	The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus rev...	BeFree	21937424	Detail
0.002	Lupus Erythematosus, Discoid	The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus rev...	BeFree	21937424	Detail
0.002	lupus erythematosus	The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus rev...	BeFree	21937424	Detail
0.002	Lupus Vulgaris	The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus rev...	BeFree	21937424	Detail
0.252	Lupus Erythematosus, Systemic	The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus rev...	BeFree	21937424	Detail

Annotation

Annotations

Descrption	Source	Links
NM_033629.6(TREX1):c.341G>A (p.Arg114His) AND Aicardi-Goutieres syndrome 1	ClinVar	Detail
NM_033629.6(TREX1):c.341G>A (p.Arg114His) AND Systemic lupus erythematosus, susceptibility to	ClinVar	Detail
NM_033629.6(TREX1):c.341G>A (p.Arg114His) AND not provided	ClinVar	Detail
NM_033629.6(TREX1):c.341G>A (p.Arg114His) AND Retinal vasculopathy with cerebral leukoencephalopathy...	ClinVar	Detail
NM_033629.6(TREX1):c.341G>A (p.Arg114His) AND multiple conditions	ClinVar	Detail
NM_033629.6(TREX1):c.341G>A (p.Arg114His) AND multiple conditions	ClinVar	Detail
NM_033629.6(TREX1):c.341G>A (p.Arg114His) AND multiple conditions	ClinVar	Detail
NM_033629.6(TREX1):c.341G>A (p.Arg114His) AND Inborn genetic diseases	ClinVar	Detail
NM_033629.6(TREX1):c.341G>A (p.Arg114His) AND multiple conditions	ClinVar	Detail
NM_033629.6(TREX1):c.341G>A (p.Arg114His) AND multiple conditions	ClinVar	Detail
NM_033629.6(TREX1):c.341G>A (p.Arg114His) AND multiple conditions	ClinVar	Detail
NM_033629.6(TREX1):c.341G>A (p.Arg114His) AND TREX1-related disorder	ClinVar	Detail
NA	DisGeNET	Detail
The TREX1R114H/R114H homodimer has dysfunctional dsDNA and ssDNA degradation activities and does not...	DisGeNET	Detail
The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structu...	DisGeNET	Detail
By comparison, the TREX1 R114H homozygous mutation causes AGS and is found as a heterozygous mutatio...	DisGeNET	Detail
The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structu...	DisGeNET	Detail
The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structu...	DisGeNET	Detail
The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structu...	DisGeNET	Detail
The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structu...	DisGeNET	Detail
The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structu...	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: rs72556554 dbSNP
Genome: hg38
Position: chr3:48,466,996-48,466,996
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8610
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): 119280
Allele Counts in All Race (ExAC): 19
Heterozygous Counts in All Race (ExAC): 19
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.5928906773977197E-4

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