chr3:48508922:CCACTGGGTCTGCTGGCC> Detail (hg19) (TREX1, ATRIP, ATRIP-TREX1)

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

Information

Genome

Assembly	Position
hg19	chr3:48,508,922-48,508,939
hg38	chr3:48,467,523-48,467,540

HGVS

ATRIP
TREX1

Type	Transcript	Protein
RefSeq	NM_130384.2:c.1969_1986delCCACTGGGTCTGCTGGCC
Ensemble	ENST00000320211.10:c.1969_1986delCCACTGGGTCTGCTGGCC

Type	Transcript	Protein
RefSeq	NM_007248.3:c.838_855delCCACTGGGTCTGCTGGCC	NP_009179.2:p.Pro280_Ala285del
	NM_016381.5:c.868_885delCCACTGGGTCTGCTGGCC	NP_057465.1:p.Pro290_Ala295del
Ensemble	ENST00000433541.1:c.451_468delCCACTGGGTCTGCTGGCC	ENST00000433541.1:p.Pro151_Ala156del
	ENST00000444177.1:c.838_855delCCACTGGGTCTGCTGGCC	ENST00000444177.1:p.Pro280_Ala285del
	ENST00000456089.1:c.451_468delCCACTGGGTCTGCTGGCC	ENST00000456089.1:p.Pro151_Ala156del
	ENST00000492235.2:c.451_468delCCACTGGGTCTGCTGGCC	ENST00000492235.2:p.Pro151_Ala156del
	ENST00000625293.3:c.868_885delCCACTGGGTCTGCTGGCC	ENST00000625293.3:p.Pro290_Ala295del
	ENST00000635452.2:c.451_468delCCACTGGGTCTGCTGGCC	ENST00000635452.2:p.Pro151_Ala156del

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 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
	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 Likely pathogenic	2023-04-27	criteria provided, multiple submitters, no conflicts	Aicardi-Goutieres syndrome 1	germline inherited	Detail
Pathogenic	2023-12-22	criteria provided, single submitter	Chilblain lupus 1,Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,Aicardi-Goutieres syndrome 1	germline	Detail
Pathogenic	2023-12-22	criteria provided, single submitter	Chilblain lupus 1,Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,Aicardi-Goutieres syndrome 1	germline	Detail
Pathogenic	2023-12-22	criteria provided, single submitter	Chilblain lupus 1,Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,Aicardi-Goutieres syndrome 1	germline	Detail
Pathogenic Likely pathogenic	2023-04-07	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Likely pathogenic	2022-03-29	criteria provided, single submitter	systemic lupus erythematosus,Chilblain lupus 1,Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,Aicardi-Goutieres syndrome 1	unknown	Detail
Likely pathogenic	2022-03-29	criteria provided, single submitter	systemic lupus erythematosus,Chilblain lupus 1,Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,Aicardi-Goutieres syndrome 1	unknown	Detail
Likely pathogenic	2022-03-29	criteria provided, single submitter	systemic lupus erythematosus,Chilblain lupus 1,Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,Aicardi-Goutieres syndrome 1	unknown	Detail
Likely pathogenic	2022-03-29	criteria provided, single submitter	systemic lupus erythematosus,Chilblain lupus 1,Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,Aicardi-Goutieres syndrome 1	unknown	Detail
Pathogenic		criteria provided, single submitter	Aicardi Goutieres syndrome	paternal	Detail
Pathogenic	2024-02-19	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.868_885del (p.Pro290_Ala295del) AND Aicardi-Goutieres syndrome 1	ClinVar	Detail
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) AND multiple conditions	ClinVar	Detail
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) AND multiple conditions	ClinVar	Detail
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) AND multiple conditions	ClinVar	Detail
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) AND not provided	ClinVar	Detail
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) AND multiple conditions	ClinVar	Detail
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) AND multiple conditions	ClinVar	Detail
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) AND multiple conditions	ClinVar	Detail
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) AND multiple conditions	ClinVar	Detail
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) AND Aicardi Goutieres syndrome	ClinVar	Detail
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) 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: rs79318303 dbSNP
Genome: hg19
Position: chr3:48,508,922-48,508,939
Variant Type: snv
Reference Allele: CCACTGGGTCTGCTGGCC
Alternative Allele: -
East Asian Chromosome Counts (ExAC): 8598
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): 120588
Allele Counts in All Race (ExAC): 8
Heterozygous Counts in All Race (ExAC): 8
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 6.63415928616446E-5

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