Individual #00200939

ID_report -
Reference -
Remarks Brother- prostate @ 50s, lymphoma @ 50s; Father- renal @ 55, CRC @ 59; Pat aunt- PSU @ 20s; Pat aunt- PSU @ 70s; Pat uncle- PSU @ 70; Pat 1st cousin- breast @ 28; PGF- CRC @ 60s, bladder @ 60s
Gender M
Consanguinity -
Country United States
Population white
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases cancer, rectal
Owner name InSiGHT - John-Paul Plazzer
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by InSiGHT - John-Paul Plazzer


Phenotypes

cancer, rectal (cancer, rectal)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000149198 - - - Unknown - - 26y - - - - InSiGHT - John-Paul Plazzer



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000201909 DNA ? - - MSH2, MSH6 2 InSiGHT - John-Paul Plazzer



Variants

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

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

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     

Legacy protein change     

Protein level     
2 Unknown +/. - pathogenic g.47637274del g.47410135del - - MSH2_000174 - - - - Germline - - - 0 - InSiGHT - John-Paul Plazzer MSH2 - - - - 3 NM_000251.2:c.408del - r.(?) p.(Phe136Leufs*38) - - - - - - - - - - - - - - - - - - -
2 Unknown +/. - pathogenic g.48010375G>T g.47783236G>T - - MSH6_000056 co-occurrence with MSH2 c.408DELT mutation - - - Germline - - - 0 - InSiGHT - John-Paul Plazzer MSH6 - - - - 1 NM_000179.2:c.3G>T - r.(?) p.(Met1?) - - - - - - - - - - - - - - - - - - -
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