Individual #00183538

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


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     

Diagnosis/Original     

Eye/Retina     

Neoplasm     

Owner     
0000144242 - Unknown - - - 54y - 54 y jejunum C, tub. adenomas MLH1+;MSH2-;MSH6-;PMS2+ - - - - - - Elke Holinski-Feder



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184506 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 Unknown +?/. g.48030802del - - - MSH6_000023 - - - - Germline - - - 0 - Elke Holinski-Feder MSH6 - - - - - 5 NM_000179.2:c.3416del - likely pathogenic r.(?) p.(Gly1139Alafs*6) - - - - - - - - - - - - - - - - - - -
5 Unknown ?/. g.80109479T>G - - - MSH3_000001 - - - - Germline - - - 0 - Elke Holinski-Feder MSH3 - - - - - 20 NM_002439.4:c.2732T>G - VUS r.(?) p.(Leu911Trp) - - - - - - - - - - - - - - - - - - -
Legend