Screening #0000182161

Individual ID 00181203
Template DNA
Technique SEQ-NG
Tissue blood
Remarks -
Variants found? 4
Owner name Karine Poirier


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ATP2B3 ATPase, Ca++ transporting, plasma membrane 3 X q28 1 143 94 2019-07-12 SCAX-1
GPR112 G protein-coupled receptor 112 X q26.3 1 104 70 2019-07-12 -
NNAT neuronatin 20 q11.2-q12 1 3 3 2018-10-12 -
USP9X ubiquitin specific peptidase 9, X-linked X p11.4 1 104 85 2019-07-12 MRX-99



Variants found

4 entries on 1 page. Showing entries 1 - 4.
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     
20 Paternal (confirmed) +/. g.36150786G>A - - - NNAT_000002 - - - - Germline - - - 0 - Karine Poirier NNAT - - - - - - NM_005386.2:c.99G>A - VUS r.(?) p.(Trp33*) - - - - - - - - - - - - - - - - - - -
X Maternal (inferred) ?/. g.40999981A>G - - - USP9X_000085 - - - - Germline - - - 0 - Karine Poirier USP9X - - - - - - NM_001039590.2:c.727A>G - VUS r.(?) p.(Asn243Asp) - - - - - - - - - - - - - - - - - - -
X Maternal (inferred) ?/. g.135432073C>T - - - GPR112_000074 - - - - Germline - - - 0 - Karine Poirier GPR112 - - - - - - NM_153834.3:c.6208C>T - - r.(?) p.(Arg2070*) - - - - - - - - - - - - - - - - - - -
X Maternal (inferred) ?/. g.152818590G>A - - - ATP2B3_000127 - - - - Germline - - - 0 - Karine Poirier ATP2B3 - - - - - - NM_021949.3:c.1921G>A - VUS r.(?) p.(Asp641Asn) - - - - - - - - - - - - - - - - - - -
Legend