chr3:48467052:C> Detail (hg38) (TREX1, ATRIP, ATRIP-TREX1)

Information

Genome

Assembly Position
hg19 chr3:48,508,451-48,508,451 
hg38 chr3:48,467,052-48,467,052

HGVS

Type Transcript Protein
RefSeq NM_130384.2:c.*1498delC
Ensemble ENST00000320211.10:c.*1498delC
Type Transcript Protein
RefSeq NM_007248.3:c.367delC NP_009179.2:p.Leu123CysfsTer27
NM_016381.5:c.397delC NP_057465.1:p.Leu133CysfsTer27
Ensemble ENST00000433541.1:c.-21delC
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely pathogenic
Review star
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
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2015-04-07 criteria provided, single submitter Aicardi-Goutieres syndrome 1 germline unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.446 Aicardi-Goutieres syndrome 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_033629.6(TREX1):c.397del (p.Leu133fs) AND Aicardi-Goutieres syndrome 1 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
rs78762691 dbSNP
Genome
hg38
Position
chr3:48,467,052-48,467,052
Variant Type
snv
Reference Allele
C
Alternative Allele
-
Genome browser