Individual #00201037

ID_report -
Reference -
Remarks Mother (84, dec.) had All Over Abdomen When They Found It at 84 years old; Maternal grandmother (40, dec.) had Stomach ? at 40 years old; Paternal grandmother (42, dec.) had Breast Cancer at 27 years old; Sister (59) had Colorectal Cancer at 55 years old; Maternal aunt (78, dec.) had Breast Cancer at 50 years old; Maternal aunt (78, dec.) had Colorectal Cancer at 60 years old; Paternal aunt (78, dec.) had Breast Cancer at 48 years old; Paternal uncle (70, dec.) had Lung at 68 years old; Paternal uncle (65, dec.) had Kidney Cancer at 65 years old; Paternal uncle (65, dec.) had Liver at 65 years old; Father (82, dec.) had Colorectal Cancer at 80 years old; Maternal grandfather (82, dec.) had Bone Spine? at 78 years old; Paternal uncle (73, dec.) had Colorectal Cancer at 50 years old
Gender F
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases cancer, skin
Owner name Jack Ji


Phenotypes

cancer, skin (cancer, skin)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Diagnosis/Criteria     

Owner     
0000149287 Skin Basal Cell - - Unknown - - 64y - - - Jack Ji



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000202007 DNA SEQ - screen date 2017-01-01 MLH1, MSH2, MSH6, PMS2 8 Jack Ji



Variants

8 entries on 1 page. Showing entries 1 - 8.
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.48023115T>C - - - MSH6_000928 - - - - Germline - - - 0 - Jack Ji MSH6 - - - - - 3 NM_000179.2:c.540T>C - benign r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
2 Unknown -/. g.48025764C>T - - - MSH6_000161 - - - - Germline - - - 0 - Jack Ji MSH6 - - - - - 4 NM_000179.2:c.642C>T - benign r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
3 Unknown -/. g.37045873A>G - - - MLH1_001681 - - - - Germline - - - 0 - Jack Ji MLH1 - - - - - 3i NM_000249.3:c.307-19A>G - benign r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
7 Unknown -/. g.6026988G>A - - - PMS2_000116 - - - - Germline - - - 0 - Jack Ji PMS2 - - - - - 11 NM_000535.5:c.1408C>T - benign r.(?) p.Pro470Ser - - - - - - - - - - - - - - - - - - -
7 Unknown -/. g.6036980G>C - - - PMS2_000030 - - - - Germline - - - 0 - Jack Ji PMS2 - - - - - 7 NM_000535.5:c.780C>G - benign r.(=) p.Ser260= - - - - - - - - - - - - - - - - - - -
7 Unknown ?/. g.6037009C>T - - - PMS2_000339 - - - - Germline - - - 0 - Jack Ji PMS2 - - - - - 7 NM_000535.5:c.751G>A - VUS r.(?) p.(Val251Met) - - - - - - - - - - - - - - - - - - -
7 Unknown -/. g.6038722T>C - - - PMS2_000025 - - - - Germline - - - 0 - Jack Ji PMS2 - - - - - 6i NM_000535.5:c.705+17A>G - benign r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
7 Unknown -/. g.6045627C>T - - - PMS2_000008 - - - - Germline - - - 0 - Jack Ji PMS2 - - - - - 2 NM_000535.5:c.59G>A - benign r.(?) p.Arg20Gln - - - - - - - - - - - - - - - - - - -
Legend