Individual #00225431

ID_report PKU-pat2
Reference -
Remarks MSH6 with c.71C>A was found in petient with endometrioid endometrial cancer related Lynch syndrome.
Gender F
Consanguinity -
Country China
Population Chinese
Age at death >58y (later than 58 years)
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases -
Owner name Caixia Ren
Database submission license No license selected
Created by Caixia Ren


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000226510 DNA SEQ-NG - - - 1 Caixia Ren



Variants

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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     

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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 +/. - pathogenic g.48010443C>A g.47783304C>A - - MSH6_001168 MSH6 with c.71C>A was found in patient with endometrioid endometrial cancer related Lynch syndrome. - - - Germline - - - 0 - Caixia Ren MSH6 - - - - 1 NM_000179.2:c.71C>A - r.(?) p.(Ser24*) - - - - - - - - - - - - - - - - - - -
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