Individual #00187027

ID_report -
Reference -
Remarks Suspect of Lynch-Syndrome, Amsterdam positive, index 87297 healthy, mother (MGZ# 3487) CC at 68 y, brother CC 42 y, maternal grandfather gastric cancer, Genes MLH1, MSH2, and PMS2 normal.
Gender -
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ?, HNPCC
Owner name Elke Holinski-Feder


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Phenotype details     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000151312 - - Unknown - - - - - - - - Elke Holinski-Feder



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000187996 DNA ? - - MSH6 1 Elke Holinski-Feder



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     
2 Unknown ?/. g.48018167G>A - - - MSH6_000020 Moderately conserved, in Dom?ñne, bioinf. not consistent. - - - Germline - - - 0 - Elke Holinski-Feder MSH6 - - - - - 2 NM_000179.2:c.362G>A - VUS r.(?) p.(Arg121His) - - - - - - - - - - - - - - - - - - -
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