Individual #00047330

ID_report -
Reference PubMed: Soravia 2005
Remarks -
Gender M
Consanguinity -
Country (Italy)
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     
0000034754 colon polyps x5. 4x adenomas 24y (1x dysplastic MSI high. Loss of MSH2 and MSH6 on IHC); Colon adenocarcinoma. Right colon 25y; Gastric/duodenal adenoma x30 25y; Desmoid tumour. Mesenteric 26y neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000047431 DNA PTT;SEQ - - APC, MSH2 2 James Whitworth



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     
2 Unknown +/. g.47656996dup g.47429857dup - - MSH2_000893 - PubMed: Soravia 2005 - rs63751169 Germline - - - 0 - James Whitworth MSH2 - - - - - 7 NM_000251.2:c.1192dup - pathogenic r.(?) p.(Ala398Glyfs*19) - - - - - - - - - - - - - - - - - - -
5 Unknown +/. g.112174762_112174765del g.112839065_112839068del 3471_3474delGAGA - APC_000247 - PubMed: Soravia 2005 - - Germline - - - 0 - James Whitworth APC - - - - - 18 NM_000038.5:c.3471_3474del - pathogenic r.(?) p.(Glu1157Aspfs*7) - 18 - - - - - - 0.000 - - - - - - - - - -
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