Individual #00187381

ID_report -
Reference -
Remarks MLH1 Methylation: methylation; Method: MS-MLPA; InSiGHT LOVDv2 ID:1016860;
Gender M
Consanguinity -
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases CRC
Owner name INSiGHT group
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by INSiGHT group
Date created 2005-12-01 12:00:00 +01:00 (CET)
Date last edited N/A


Phenotypes

cancer, colorectal, susceptibility to (CRC) (CRC)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Cysts     

Eye/Retina     

Neoplasm     

Owner     
0000146951 - Unknown 65y - - 65y - Additional info: adenocarc coecum; MLH1-;MSH2+;MSH6+;PMS2- MSI-H - - - - INSiGHT group



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000188350 DNA SEQ - - MSH6 1 INSiGHT group



Variants

1 entry on 1 page. Showing entry 1.
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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/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
2 Unknown ?/. - VUS g.48025785A>C g.47798646A>C 663A>C - MSH6_000929 - Mensenkamp and Ligtenberg - - Germline - - - - - INSiGHT group MSH6 - - - - 4 NM_000179.2:c.663A>C - r.(?) p.(Glu221Asp) - - - - - - - - - - - - - -
Legend   How to query  


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