Individual #00036252

ID_report -
Reference -
Remarks -
Gender -
Consanguinity -
Country Germany
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases HNPCC
Owner name Andreas Laner


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     
0000156417 HNPCC? - sister of index: suspected HNPCC, intestinal cancer at the age of 40, loss of MSH2, MSH6 and PMS2 Unknown - - - - - - - Andreas Laner



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000036322 DNA SEQ - - MSH6 1 Andreas Laner



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

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Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

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Re-site     

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Methylation     

Owner     

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Effect     

Codon change     

IDbase Accession Number     

VariO/DNA     

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VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

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Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
2 Parent #1 g.48030650_48030652del g.47803511_47803513del - - MSH6_001105 - - - - Germline - - - 0 - Andreas Laner MSH6 ?/. - - - - - - NM_000179.2:c.3264_3266del - VUS r.(?) p.(Phe1088del) - - - - - - - - - - - - - - - - - - -
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