Individual #00183539

ID_report -
Reference -
Remarks -
Gender M
Consanguinity -
Country Germany
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases HNPCC
Owner name Elke Holinski-Feder


Phenotypes

cancer, colorectal, nonpolyposis, hereditary (HNPCC, Lynch syndrome) (HNPCC)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000144243 - - MSI-H; 47y colon C; mother 50y endometrial C, 60y skin C, 70y colon C; maternal cousin 43y cervix C; maternal half-brother 39y seminome; maternal niece 17y lymphoma Familial, autosomal dominant - - 47y - MLH1+;MSH2-;MSH6-;PMS2+ - - Elke Holinski-Feder



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184507 DNA SEQ - - MSH2, MSH3, MSH6 2 Elke Holinski-Feder



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     
2 Maternal (inferred) +/. g.48033758_48033768del - - - MSH6_000654 - - - - Germline yes - - 0 - Elke Holinski-Feder MSH6 - - - - - 9 NM_000179.2:c.3969_3979del - pathogenic r.(?) p.(Phe1323Leufs*14) - - - - - - - - - - - - - - - - - - -
5 Maternal (inferred) +?/. g.79970809del - - - MSH3_000002 - - - - Germline yes - - 0 - Elke Holinski-Feder MSH3 - - - - - 7 NM_002439.4:c.1035del - - r.(?) p.(Leu347*) - - - - - - - - - - - - - - - - - - -
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