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


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     

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IDbase Accession Number     

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Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

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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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