Individual #00014235

ID_report -
Reference -
Remarks -
Gender F
Consanguinity -
Country Spain
Population Caucasian
Age/Death -
VIP -
Data_av no (pedigree)
Treatment -
Panel size 1
Diseases CRC
Owner name Javier Garcia-Planells


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     
0000012922 - Isolated (sporadic) - - - - - no additional phenotype data available; colorectal phenotype classical, ? nr polyps - - - - ? - - Javier Garcia-Planells



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000014151 DNA SEQ ? complete sequencing APC gene APC 1 Javier Garcia-Planells



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.112173284_112173285del g.112837587_112837588del 1993_1994delTT - APC_000516 - - - - Unknown ? - - 0 - Javier Garcia-Planells APC - - - - - 18 NM_000038.5:c.1993_1994del - pathogenic r.(?) p.(Leu665Ilefs*8) - 15A - - - - - - - - frameshift deletion, small - - - - - - -
Legend