Individual #00047319

ID_report -
Reference PubMed: Thiffault 2004
Remarks -
Gender F
Consanguinity -
Country (Canada)
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     
0000034722 neoplasia, multiple inherited alleles; lobular and ductal carcinoma in situ 32y (ERPR +ve); Endometroid adenocarcinoma 40y (No MMR deficiency on IHC. MSI low); Colon villotubular adenoma. 40y (Loss of MSH2 on IHC. MSI high) neoplasia, multiple inherited alleles (MINAS) - Unknown - - - - - James Whitworth



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000047418 DNA PTT;RT-PCR;SEQ - - BRCA2, 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.47672687_47672796del g.47445548_47445657del - - MSH2_001753 - - - - Germline - - - 0 - James Whitworth MSH2 - - - - - - NM_000251.2:c.1277_1386del - pathogenic r.? p.? - - - - - - - - - - - - - - - - - - -
13 Unknown +/. g.32893460T>G g.32319323T>G - - BRCA2_003740 - - - - Germline - - - 0 - James Whitworth BRCA2 - - - - - - NM_000059.3:c.314T>G - pathogenic r.(?) p.(Leu105*) - - - - - - - - - - - - - - - - - - -
Legend