Individual #00184245

ID_report 6002
Reference IP3 project, submitted
Remarks -
Gender M
Consanguinity no
Country Netherlands
Population white
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases Healthy/Control
Owner name Jesse Swen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000185212 DNA arraySNP;PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 - 7 Jesse Swen



Variants

7 entries on 1 page. Showing entries 1 - 7.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

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     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

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Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
1 Parent #1 +/. - benign (!) g.98039419C>T g.97573863C>T - - DPYD_000019 intermediate metabolizer (activity 0.5) IP3 project, submitted - - Germline - - - 0 - Jesse Swen DPYD - - - - - 11 NM_000110.3:c.1236G>A DPYD 1236GA r.spl? p.(Glu412=) - - - - - - - - - - - - - - - - - - - -
7 Parent #1 -/- - benign g.99270539C>T g.99672916C>T - - CYP3A5_000003 expressor (heterozygous) IP3 project, submitted - - Germline - - - 0 - Jesse Swen CYP3A5 - - - - - 3i NM_000777.3:c.219-237G>A CYP3A5*1/*3 r.spl p.(Thr74fs) - - - - - - - - - - - - - - - - - - - -
10 Parent #1 +/. - benign (!) g.96702047C>T g.94942290C>T - - CYP2C9_000002 intermediate metabolizer IP3 project, submitted - - Germline - - - 0 - Jesse Swen CYP2C9 - - - - - - NM_000771.3:c.430C>T CYP2C9*1/*2 r.(?) p.(Arg144Cys) - - - - - - - - - - - - - - - - - - - -
22 Unknown -/. - benign g.42522613C>G g.42126611C>G 4180G>C (S486T) - CYP2D6_000010 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. IP3 project, submitted - - Germline - - - 0 - Jesse Swen CYP2D6 - - - - - 9 NM_000106.4:c.1457G>C CYP2D6*1;CYP2D6*4 r.(408g>c) p.(Ser486Thr) - - - - - - - - - - - - - - - - - - - -
22 Unknown +/. - benign (!) g.42524947C>T g.42128945C>T 1846G>A (spl) - CYP2D6_000004 intermediate metabolizer IP3 project, submitted - - Germline - - - 0 - Jesse Swen CYP2D6 - - - - - 3i NM_000106.4:c.506-1G>A CYP2D6*1;CYP2D6*4 r.(506del) p.(Gly169Aspfs*14) - - - - - - - - - - - - - - - - - - - -
22 Unknown -/. - benign g.42525132= g.42129130C>G 1661G>C - CYP2D6_000011 - IP3 project, submitted - - Germline - - - 0 - Jesse Swen CYP2D6 - - - - - 3 NM_000106.4:c.408G>C CYP2D6*1;CYP2D6*4 r.(408g>c) p.(Val136=) - - - - - - - - - - - - - - - - - - - -
22 Unknown -/. - benign g.42526694G>A g.42130692G>A - - CYP2D6_000009 - IP3 project, submitted - - Germline - - - 0 - Jesse Swen CYP2D6 - - - - - 1 NM_000106.4:c.100C>T CYP2D6*1;CYP2D6*4 r.(100c>u) p.(Pro34Ser) - - - - - - - - - - - - - - - - - - - -
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