chr3:48467257:T>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	chr3:48,508,656-48,508,656 View the variant detail on this assembly version.
hg38	chr3:48,467,257-48,467,257

HGVS

ATRIP
TREX1

Type	Transcript	Protein
RefSeq	NM_130384.2:c.*1703T>A
Ensemble	ENST00000320211.10:c.*1703T>A

Type	Transcript	Protein
RefSeq	NM_007248.3:c.572T>A	NP_009179.2:p.Val191Asp
	NM_016381.5:c.602T>A	NP_057465.1:p.Val201Asp
Ensemble	ENST00000433541.1:c.185T>A	ENST00000433541.1:p.Val62Asp
	ENST00000444177.1:c.572T>A	ENST00000444177.1:p.Val191Asp
	ENST00000456089.1:c.185T>A	ENST00000456089.1:p.Val62Asp
	ENST00000492235.2:c.185T>A	ENST00000492235.2:p.Val62Asp
	ENST00000625293.3:c.602T>A	ENST00000625293.3:p.Val201Asp
	ENST00000635452.2:c.185T>A	ENST00000635452.2:p.Val62Asp

Summary

MGeND

Clinical significance
Variant entry
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

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2006-08-01	no assertion criteria provided	Aicardi-Goutieres syndrome 1	germline	Detail
Pathogenic	2019-11-01	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.446	Aicardi-Goutieres syndrome 1	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_033629.6(TREX1):c.602T>A (p.Val201Asp) AND Aicardi-Goutieres syndrome 1	ClinVar	Detail
NM_033629.6(TREX1):c.602T>A (p.Val201Asp) AND not provided	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: rs78408272 dbSNP
Genome: hg38
Position: chr3:48,467,257-48,467,257
Variant Type: snv
Reference Allele: T
Alternative Allele: A

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