Individual #00014709

ID_report -
Reference -
Remarks -
Gender F
Consanguinity -
Country Kuwait
Population Arab
Age at death -
VIP -
Data_av yes (pedigree)
Treatment -
Panel size 1
Diseases polyposis
Owner name Makia Marafie


Phenotypes

polyposis (polyposis)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Cysts     

Eye/Retina     

Neoplasm     

Owner     
0000013396 no additional phenotype data available; colorectal phenotype severe, hundreds polyps colon; colectomy 20y colorectal symptoms - Unknown 20y - - - - - - - - Makia Marafie



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000014625 DNA SEQ leukocytes screen APC gene (index patient) APC 1 Makia Marafie



Variants

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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

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     

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     

Legacy protein change     

Protein level     
5 Unknown +/+ - pathogenic g.112164586C>T g.112828889C>T - - APC_000039 - - - - Germline ? - - 0 - Makia Marafie APC - - - - - 16 NM_000038.5:c.1660C>T - r.(?) p.(Arg554*) - 13 - - - - - - - - nonsense substitution - - - - - - - -
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