Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000175588 Individual ID 00235326 Associated disease cancer, pancreatic Phenotype details metastatic pancreatic cancer; intact expression of MLH1, MSH2, and MSH6 with equivocal PMS2 testing (incomplete PMS2 expression with a predominant nuclear rimming pattern; Fig. 1F) Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis 58y Age/Onset - Phenotype/Onset - Protein MLH1+;MSH2+;MSH6+;PMS2_equivocal Tumor/MSI microsatellite instability Diagnosis/Criteria - Owner name InSiGHT - John-Paul Plazzer Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by InSiGHT - John-Paul Plazzer Date created 2019-05-21 07:36:23 +02:00 (CEST) Date last edited 2019-05-21 07:37:24 +02:00 (CEST)

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