chr3:48467145:C>T 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	chr3:48,508,544-48,508,544 View the variant detail on this assembly version.
hg38	chr3:48,467,145-48,467,145

HGVS

ATRIP
TREX1

Type	Transcript	Protein
RefSeq	NM_130384.2:c.*1591C>T
Ensemble	ENST00000320211.10:c.*1591C>T

Type	Transcript	Protein
RefSeq	NM_016381.5:c.490C>T	NP_057465.1:p.Arg164Ter
	NM_007248.3:c.460C>T	NP_009179.2:p.Arg154Ter
Ensemble	ENST00000456089.1:c.73C>T	ENST00000456089.1:p.Arg25Ter
	ENST00000492235.2:c.73C>T	ENST00000492235.2:p.Arg25Ter
	ENST00000625293.3:c.490C>T	ENST00000625293.3:p.Arg164Ter
	ENST00000635452.2:c.73C>T	ENST00000635452.2:p.Arg25Ter
	ENST00000433541.1:c.73C>T	ENST00000433541.1:p.Arg25Ter
	ENST00000444177.1:c.460C>T	ENST00000444177.1:p.Arg154Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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	tgv249746231	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	tgv249746231	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
Likely pathogenic	2018-04-23	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2023-10-13	criteria provided, single submitter	Aicardi-Goutieres syndrome 1,Chilblain lupus 1,Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	germline	Detail
Pathogenic	2023-10-13	criteria provided, single submitter	Aicardi-Goutieres syndrome 1,Chilblain lupus 1,Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	germline	Detail
Pathogenic	2023-10-13	criteria provided, single submitter	Aicardi-Goutieres syndrome 1,Chilblain lupus 1,Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	germline	Detail
Pathogenic	2022-11-11	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

Descrption	Source	Links
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter) AND Aicardi-Goutieres syndrome 1	ClinVar	Detail
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter) AND not provided	ClinVar	Detail
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter) AND multiple conditions	ClinVar	Detail
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter) AND multiple conditions	ClinVar	Detail
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter) AND multiple conditions	ClinVar	Detail
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter) 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: rs78218009 dbSNP
Genome: hg38
Position: chr3:48,467,145-48,467,145
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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