Screening #0000226535

Individual ID 00225456
Template DNA
Technique SEQ;SEQ-NG
Tissue -
Remarks singleton WES
Variants found? 2
Owner name Johan den Dunnen


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
TONSL tonsoku-like, DNA repair protein 8 q24.3 1 54 40 2019-02-16 SPONASTRIME



Variants found

2 entries on 1 page. Showing entries 1 - 2.
Legend  

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     
8 Parent #1 +/. g.145665412_145665413del - 1471_1472delTC - TONSL_000029 - Journal: Chang 2019 - - Germline - - - 0 - Johan den Dunnen TONSL - - - - - - NM_013432.4:c.1471_1472del - pathogenic (recessive) r.(?) p.(Ser491Argfs*65) - - - - - - - - - - - - - - - - - - -
8 Parent #2 +/. g.145668117C>T - - - TONSL_000030 - Journal: Chang 2019 - - Germline - - - 0 - Johan den Dunnen TONSL - - - - - - NM_013432.4:c.521G>A - pathogenic (recessive) r.(?) p.(Ser174Asn) - - - - - - - - - - - - - - - - - - -
Legend