Screening #0000112841

Individual ID 00112383
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 1
Owner name Boukje de Vries


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
TREX1 three prime repair exonuclease 1 3 p21.31 2 137 95 2019-09-30 AGS-1, ID, SLE, Chilblain lupus, Vasculopathy, retinal, with cerebral leukodystrophy



Variants found

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
3 Unknown +/? g.48509033delC - - - TREX1_000044 Variant originally reported as "c.*979delC" and "p. 3'UTR PubMed: Lee-Kirsch 2007 - - Germline - - - 0 - Boukje de Vries TREX1 - - - - - 1, 2 NM_016381.4:c.*34delC, NM_033629.3:c.979delC - - r.(=), r.(?) p.(=), p.? - - - - - - - - - - - - - - - - - - -
Legend