Individual #00046950

ID_report -
Reference -
Remarks Grantham assessment - highly likely deleterious, In silico prediction - disease causing; Family history- son CRC 31 (in NZ- segregation not done yet), another son ascending colon and rectal adenoma, and sigmoid hyperplastic polyp at 34, father CRC 61
Gender F
Consanguinity -
Country ? (unknown)
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases HNPCC-1 (Lynch)
Owner name InSiGHT - John-Paul Plazzer


Phenotypes

cancer, colorectal, nonpolyposis, hereditary, type 1 (HNPCC-1, Lynch syndrome) (HNPCC-1 (Lynch))   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

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Protein     

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Tumor/IHC     

Tumor/MSI     

Owner     
0000034320 Endometrial (53y) - - Unknown - - - - - - - ACII MLH1, MSH2+, MSH6-, PMS2+ - InSiGHT - John-Paul Plazzer



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000047059 DNA MLPA;SEQ - - MSH6 1 InSiGHT - John-Paul Plazzer



Variants

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     

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IDbase Accession Number     

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ClassClinical     

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P-domain     

Exon_old     

DNA/Legacy     

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Protein level     
2 Unknown ?/. g.48026741T>C g.47799602T>C - - MSH6_001052 - - - - Unknown ? - - 0 - InSiGHT - John-Paul Plazzer MSH6 - - - - - ? NM_000179.2:c.1619T>C - VUS r.(?) p.(Leu540Pro) - - - - - - - - - - - - - - - - - - -
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