Individual #00245617

ID_report -
Reference -
Remarks -
Gender F
Consanguinity -
Country Spain
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases cancer, rectal, cancer, skin, CRC
Owner name Gabriel Capella


Phenotypes

cancer, colorectal (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     
0000185531 - Familial - - 35y - - - MLH1+;MSH2-;MSH6- MSI-H Family history criteria: Bethesda - - - Gabriel Capella
0000185532 - Familial - - 52y - - - MLH1+;MSH2-;MSH6-;PMS2+ - Family history criteria: Bethesda - - - Gabriel Capella
0000185533 - Familial - - 58y - - - - - Family history criteria: Bethesda - - - Gabriel Capella

cancer, skin (cancer, skin)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Diagnosis/Criteria     

Owner     
0000185534 - - - Familial - 37y - - - Family history criteria: Bethesda Gabriel Capella

cancer, rectal (cancer, rectal)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000185530 - - - Familial - 31y - - - - Family history criteria: Bethesda Gabriel Capella



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000246729 DNA SEQ - - MSH2, MSH6 1 Gabriel Capella



Variants

1 entry on 1 page. Showing entry 1.
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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.47703569A>G - - - MSH2_001836 - - - - Germline - - - 0 - Gabriel Capella MSH2 - - - - - 13 NM_000251.2:c.2069A>G - pathogenic r.(?) p.Gln690Arg - - - - - - - - - - - - - - - - - - -
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