Individual #00188556

ID_report -
Reference -
Remarks no tumors reported in family, healthy mother
Gender M
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     
0000147206 - Unknown - - - 39y - 39 y metachronous colon Ca, 47 y jejunum Ca MLH1+;MSH2+;MSH6+;PMS2- MSI-H - - - - - Elke Holinski-Feder



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000189525 DNA SEQ - - MLH1, PMS2 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     
3 Unknown ?/. g.37034770C>G - EPM2AIP1 -202G>C (MLH1 -269C>G not in 5`UTR) - MLH1_000002 - - - - Germline ? - - 0 - Elke Holinski-Feder MLH1 - - - - - _1 NM_000249.3:c.-269C>G - VUS r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
7 Maternal (confirmed) +/. g.6038747G>A - - - PMS2_000201 in cDNA strong NMD, monoallelic expression due to early stopp - - - Germline ? - - 0 - Elke Holinski-Feder PMS2 - - - - - 6 NM_000535.5:c.697C>T - pathogenic r.(?) p.(Gln233*) - - - - - - - - - - - - - - - - - - -
Legend