chr3:48467155:G> 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	chr3:48,508,554-48,508,554
hg38	chr3:48,467,155-48,467,155

HGVS

ATRIP
TREX1

Type	Transcript	Protein
RefSeq	NM_130384.2:c.*1601delG
Ensemble	ENST00000320211.10:c.*1601delG

Type	Transcript	Protein
RefSeq	NM_007248.3:c.470delG	NP_009179.2:p.Ser157ThrfsTer13
	NM_016381.5:c.500delG	NP_057465.1:p.Ser167ThrfsTer13
Ensemble	ENST00000433541.1:c.83delG	ENST00000433541.1:p.Ser28ThrfsTer13
	ENST00000444177.1:c.470delG	ENST00000444177.1:p.Ser157ThrfsTer13
	ENST00000456089.1:c.83delG	ENST00000456089.1:p.Ser28ThrfsTer13
	ENST00000492235.2:c.83delG	ENST00000492235.2:p.Ser28ThrfsTer13
	ENST00000625293.3:c.500delG	ENST00000625293.3:p.Ser167ThrfsTer13
	ENST00000635452.2:c.83delG	ENST00000635452.2:p.Ser28ThrfsTer13

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	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

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
not provided		no assertion provided	Aicardi-Goutieres syndrome 1	germline	Detail
Pathogenic	2016-07-12	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2023-01-01	criteria provided, single submitter	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,Chilblain lupus 1,Aicardi-Goutieres syndrome 1	germline	Detail
Pathogenic	2023-01-01	criteria provided, single submitter	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,Chilblain lupus 1,Aicardi-Goutieres syndrome 1	germline	Detail
Pathogenic	2023-01-01	criteria provided, single submitter	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,Chilblain lupus 1,Aicardi-Goutieres syndrome 1	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.500del (p.Ser167fs) AND Aicardi-Goutieres syndrome 1	ClinVar	Detail
NM_033629.6(TREX1):c.500del (p.Ser167fs) AND not provided	ClinVar	Detail
NM_033629.6(TREX1):c.500del (p.Ser167fs) AND multiple conditions	ClinVar	Detail
NM_033629.6(TREX1):c.500del (p.Ser167fs) AND multiple conditions	ClinVar	Detail
NM_033629.6(TREX1):c.500del (p.Ser167fs) AND multiple conditions	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: rs76642637 dbSNP
Genome: hg38
Position: chr3:48,467,155-48,467,155
Variant Type: snv
Reference Allele: G
Alternative Allele: -
East Asian Chromosome Counts (ExAC): 8630
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): 121006
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.26405302216419E-6

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