Individual #00200988

ID_report -
Reference -
Remarks no family history
Gender M
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     
0000149238 - - - Unknown 48y - - - - - - Jack Ji



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000201958 DNA SEQ - screen date 2017-01-01 MLH1, MSH2, MSH6, PMS2 8 Jack Ji



Variants

8 entries on 1 page. Showing entries 1 - 8.
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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.48010488G>A g.47783349G>A - - MSH6_000915 - - - - Germline - - - 0 - Jack Ji MSH6 - - - - 1 NM_000179.2:c.116G>A - r.(?) p.(Gly39Glu) - - - - - - - - - - - - - - - - - - -
3 Unknown -?/. - likely benign g.37042541T>G g.37001050T>G - - MLH1_001003 - - - - Germline - - - 0 - Jack Ji MLH1 - - - - 3 NM_000249.3:c.303T>G - r.(=) p.Gly101= - - - - - - - - - - - - - - - - - - -
7 Unknown -/. - benign g.6026384C>T g.5986753C>T - - PMS2_000153 - - - - Germline - - - 0 - Jack Ji PMS2 - - - - 11i NM_000535.6:c.2006+6G>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
7 Unknown -/. - benign g.6026942G>T g.5987311G>T - - PMS2_000138 - - - - Germline - - - 0 - Jack Ji PMS2 - - - - 11 NM_000535.6:c.1454C>A - r.(?) p.Thr485Lys - - - - - - - - - - - - - - - - - - -
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.6043386G>A g.6003755G>A - - PMS2_000264 - - - - Germline - - - 0 - Jack Ji PMS2 - - - - 4 NM_000535.6:c.288C>T - r.(=) p.Ala96= - - - - - - - - - - - - - - - - - - -
7 Unknown ?/. - VUS g.6043797C>G g.6004166C>G - - PMS2_000336 - - - - Germline - - - 0 - Jack Ji PMS2 - - - - 2i NM_000535.6:c.164-108G>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
7 Unknown -/. - benign g.6045627C>T g.6005996C>T - - PMS2_000008 - - - - Germline - - - 0 - Jack Ji PMS2 - - - - 2 NM_000535.6:c.59G>A - r.(?) p.Arg20Gln - - - - - - - - - - - - - - - - - - -
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