Individual #00016131

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


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     
0000014862 colorectal adenomatous polyposis - - Unknown 27y - - - - - - - - Sukanya Horpaopan



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016054 DNA SEQ leukocyte - CNTN6 1 Sukanya Horpaopan



Variants

1 entry on 1 page. Showing entry 1.
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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     
3 Unknown +?/? - likely pathogenic g.1413999_1414000del g.1372315_1372316del 1509_1510delCG - CNTN6_000003 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 CNTN6 - - - - - 13 NM_014461.2:c.1509_1510del - r.(?) p.(Val504Profs*22) - - - - - - - - - - - - - - - - - - - -
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