Individual #00014243

ID_report -
Reference -
Remarks -
Gender F
Consanguinity -
Country Italy
Population -
Age/Death -
VIP -
Data_av ?
Treatment -
Panel size 1
Diseases CRC
Owner name Silvana Penco


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     

Diagnosis/Original     

Eye/Retina     

Neoplasm     

Owner     
0000012930 - Unknown - - - - - ? - - - - ? - - Silvana Penco



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000014159 DNA SEQ leukocytes screen APC gene (index patient) APC 1 Silvana Penco



Variants

1 entry on 1 page. Showing entry 1.
Legend  

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     
5 Unknown +/+ g.112176203dup g.112840506dup 4912dupA - APC_000547 - - - - Germline ? - - 0 - Silvana Penco APC - - - - - 18 NM_000038.5:c.4912dup - pathogenic r.(?) p.(Met1638Asnfs*8) - 15J - - - - - - - - frameshift insertion, small - - - - - - -
Legend