Individual #00200816

ID_report -
Reference -
Remarks -
Gender M
Consanguinity -
Country United Kingdom (Great Britain)
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases CRC
Owner name Ian Berry
Database submission license No license selected
Created by Ian Berry


Phenotypes

cancer, colorectal, susceptibility to (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     

Eye/Retina     

Neoplasm     

Owner     
0000149167 - Familial - - - 40y - - PMS2- MSI-H - - - - Ian Berry



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000201786 DNA MLPA - - PMS2 1 Ian Berry



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

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     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

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     

Legacy protein change     

Protein level     
7 Unknown +?/. - likely pathogenic g.(?_6012870)_(6013174_6017218)del - Dosage reduction ~0.75 - PMS2_000335 Dosage drop, detected by comparative read depth analysis and MLPA. Not unequivocally assignable to PMS2 or PMS2CL on this basis, but equivalent cases have been resolved with further testing in the literature; odds in favour of PMS2 involvement. - - - Unknown - - - 0 - Ian Berry PMS2 - - - - 14i_15_ NM_000535.6:c.(2445+1_2446-1)_(*160_?)del - r.(?) p.? - - - - - - - - - - - - - - - - - - -
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