Individual #00016288

ID_report -
Reference -
Remarks detected possibly causative variant but have not yet sufficient evidence to publish - please contact me
Gender F
Consanguinity ?
Country Germany
Population -
Age/Death -
VIP 1
Data_av -
Treatment -
Panel size 1
Diseases CRC
Owner name Sukanya Horpaopan


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     
0000014878 - Familial - - - - - familial colorectal cancer - - - - - - Sukanya Horpaopan



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016206 DNA SEQ leukocyte - KIF26B 1 Sukanya Horpaopan



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     
1 Parent #1 ?/? g.245849362C>T g.245686060C>T - - KIF26B_000007 variant marked as interesting (probably affects gene function with phenotypic consequences) but have not yet sufficient evidence to publish - please contact me - - - Germline - 1/192 cases - 1 - Sukanya Horpaopan KIF26B - - - - - 12 NM_018012.3:c.3077C>T - - r.(?) p.(Pro1026Leu) - - - - - - - - - - - - - - - - - - -
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