Individual #00186916

ID_report -
Reference -
Remarks First cousin once removed with CRC
Gender -
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ?, CRC
Owner name Bryony A Thompson


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     
0000151284 - - Familial - - - - - - - family history Bryony A Thompson



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000187884 DNA SEQ-NG-I;SEQ - - MLH1, MSH2, MSH6, PMS2 2 Bryony A Thompson



Variants

2 entries on 1 page. Showing entries 1 - 2.
Legend  

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.47630468C>G - - - MSH2_000026 Segregation Likelihood Ratio = 0.9735 - - - Germline ? - - 0 - Bryony A Thompson MSH2 - - - - - 1 NM_000251.2:c.138C>G - VUS r.(?) p.(His46Gln) - - - - - - - - - - - - - - - - - - -
2 Unknown ?/. g.48025871T>C - - - MSH6_000089 Segregation Likelihood Ratio = 0.791 - - - Germline ? - - 0 - Bryony A Thompson MSH6 - - - - - 4 NM_000179.2:c.749T>C - VUS r.(?) p.(Val250Ala) - - - - - - - - - - - - - - - - - - -
Legend