Individual #00200966

ID_report -
Reference -
Remarks Father (79) had Pancreatic Cancer at 75 years old
Gender F
Consanguinity -
Country -
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name Jack Ji
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by InSiGHT - John-Paul Plazzer


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000149216 - - - Unknown 47y - - - - - - Jack Ji



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000201936 DNA SEQ - screen date 2015-01-01 MLH1, MSH2, MSH6, PMS2 11 Jack Ji



Variants

11 entries on 1 page. Showing entries 1 - 11.
Legend   How to query  

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     
2 Unknown -/. - benign g.47630550C>G g.47403411C>G - - MSH2_000070 - - - - Germline - - - 0 - Jack Ji MSH2 - - - - 1i NM_000251.2:c.211+9C>G - r.spl? p.(=) - - - - - - - - - - - - - - - - - - -
2 Unknown -/. - benign g.47693959G>A g.47466820G>A - - MSH2_000995 - - - - Germline - - - 0 - Jack Ji MSH2 - - - - 10i NM_000251.2:c.1661+12G>A - r.spl? p.(=) - - - - - - - - - - - - - - - - - - -
2 Unknown -/. - benign g.47698108T>C g.47470969T>C - - MSH2_000564 - - - - Germline - - - 0 - Jack Ji MSH2 - - - - 11 NM_000251.2:c.1666T>C - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Unknown -/. - benign g.48010558C>A g.47783419C>A - - MSH6_000917 - - - - Germline - - - 0 - Jack Ji MSH6 - - - - 1 NM_000179.2:c.186C>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
2 Unknown -/. - benign g.48018081A>G g.47790942A>G - - MSH6_000920 - - - - Germline - - - 0 - Jack Ji MSH6 - - - - 2 NM_000179.2:c.276A>G - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
2 Unknown -/. - benign g.48023115T>C g.47795976T>C - - MSH6_000928 - - - - Germline - - - 0 - Jack Ji MSH6 - - - - 3 NM_000179.2:c.540T>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
2 Unknown -/. - benign g.48030838A>T g.47803699A>T - - MSH6_000215 - - - - Germline - - - 0 - Jack Ji MSH6 - - - - 5i NM_000179.2:c.3438+14A>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
3 Unknown -?/. - likely benign g.37035103G>C g.36993612G>C - - MLH1_001732 - - - - Germline - - - 0 - Jack Ji MLH1 - - - - 1 NM_000249.3:c.65G>C - r.(?) p.Gly22Ala - - - - - - - - - - - - - - - - - - -
7 Unknown -/. - benign g.6026988G>A g.5987357G>A - - PMS2_000116 - - - - Germline - - - 0 - Jack Ji PMS2 - - - - 11 NM_000535.6:c.1408C>T - r.(?) p.Pro470Ser - - - - - - - - - - - - - - - - - - -
7 Unknown -/. - benign g.6036980G>C g.5997349G>C - - PMS2_000030 - - - - Germline - - - 0 - Jack Ji PMS2 - - - - 7 NM_000535.6:c.780C>G - r.(=) p.Ser260= - - - - - - - - - - - - - - - - - - -
7 Unknown -/. - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - 0 - Jack Ji PMS2 - - - - 6i NM_000535.6:c.705+17A>G - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
Legend   How to query