Individual #00047863

ID_report -
Reference PubMed: Puijenbroek 2007
Remarks -
Gender F
Consanguinity -
Country (Netherlands)
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases MINAS
Owner name James Whitworth


Phenotypes

neoplasia, multiple inherited alleles (MINAS) (MINAS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000035258 colon adenomas x5 48y (All MSI stable. Retained MSH6 expression) neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000047989 DNA SEQ - - MSH6, MUTYH 3 James Whitworth



Variants

3 entries on 1 page. Showing entries 1 - 3.
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Chr     

Allele     

Effect     

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     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

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     

Protein level     
1 Unknown +/. g.45797228C>T g.45331556C>T - - MUTYH_000075 - PubMed: Puijenbroek 2007 - - Germline - - - 0 - James Whitworth MUTYH - - - - - 13 NM_001128425.1:c.1187G>A - pathogenic r.(?) p.(Gly396Asp) - - - - - - - - - - - - - - - - - - -
1 Unknown +/. g.45798475T>C g.45332803T>C - - MUTYH_000012 - PubMed: Puijenbroek 2007 - - Germline - - - 0 - James Whitworth MUTYH - - - - - 7 NM_001128425.1:c.536A>G - pathogenic r.(?) p.(Tyr179Cys) - - - - - - - - - - - - - - - - - - -
2 Unknown +/. g.48026906del g.47799767del 1784delT - MSH6_000122 - - - - Germline - - - 0 - James Whitworth MSH6 - - - - - 4 NM_000179.2:c.1784del - pathogenic r.(?) p.(Leu595Tyrfs*15) - - - - - - - - - - - - - - - - - - -
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