chr3:48508266:TG> Detail (hg19) (TREX1, ATRIP)

Information

Genome

Assembly Position
hg19 chr3:48,508,266-48,508,267
hg38 chr3:48,466,867-48,466,868 

HGVS

Type Transcript Protein
RefSeq NM_130384.2:c.*1313_*1314delTG
Ensemble ENST00000320211.10:c.*1313_*1314delTG
Type Transcript Protein
RefSeq NM_007248.3:c.182_183delTG NP_009179.2:p.Val61GlyfsTer30
NM_016381.5:c.212_213delTG NP_057465.1:p.Val71GlyfsTer30
Ensemble ENST00000433541.1:c.-206_-205delTG
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.446 Aicardi-Goutieres syndrome 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
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
rs797045073 dbSNP
Genome
hg19
Position
chr3:48,508,266-48,508,267
Variant Type
snv
Reference Allele
TG
Alternative Allele
-
Genome browser