Individual #00200963

ID_report -
Reference -
Remarks Maternal grandmother (59, dec.) had Aplastic Anemia at 56 years old. Paternal grandmother (55, dec.) had Unknown Cancer at 46 years old; Paternal aunt (54) had Lung Cancer at 52 years old; Paternal aunt (23, dec.) had Acute Myeloid Leukemia at 22 years old; Father (56, dec.) had Pancreatic Cancer at 56 years old; Maternal grandfather (74, dec.) had Esophageal at 73 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     
0000149214 - - - Unknown 33y - - - - - - Jack Ji



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000201933 DNA SEQ - screen date 2016-01-01 MLH1, MSH2, MSH6, PMS2 3 Jack Ji



Variants

3 entries on 1 page. Showing entries 1 - 3.
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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     
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 ?/. - VUS g.37035090C>T g.36993599C>T - - MLH1_001887 - - - - Germline - - - 0 - Jack Ji MLH1 - - - - 1 NM_000249.3:c.52C>T - r.(?) p.Arg18Cys - - - - - - - - - - - - - - - - - - -
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= - - - - - - - - - - - - - - - - - - -
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