Individual #00186923

ID_report -
Reference PubMed: Chika 2015
Remarks Gan To Kagaku Ryoho. 2015 Nov;42(12):2211-4.; [A Family Affected by Lynch Syndrome Caused by MSH6 Germline Mutation].; [Article in Japanese]; From abstract: He had family history of endometrial cancer and gastric cancer(mother), and bladder cancer(father).; The Patient met revised Bethesda guidelines.; The same MSH6 variant was detected in younger brother.
Gender M
Consanguinity -
Country Japan
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases HNPCC
Owner name InSiGHT - John-Paul Plazzer


Phenotypes

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

AscendingPhenotype ID     

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Tumor/MSI     

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Owner     
0000146888 - - Sigmoid Cancer Unknown - - 47y - MLH1+;MSH2+;MSH6-;PMS2+ MSI-H positive fecal occult blood test InSiGHT - John-Paul Plazzer



Screenings


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Owner     
0000187891 DNA SEQ - - MSH6 1 InSiGHT - John-Paul Plazzer



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

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Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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Protein level     
2 Unknown +/. g.48026928_48026931del - codon 604( 1806-1809delAAG/p. Glu604LeufsX5). - MSH6_000413 - - - - Germline - - - 0 - InSiGHT - John-Paul Plazzer MSH6 - - - - - 4 NM_000179.2:c.1806_1809del - pathogenic r.(?) p.(Glu604Leufs*5) - - - - - - - - - - - - - - - - - - -
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