Individual #00201777

ID_report -
Reference PubMed: Rossi 2017
Remarks A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America
Gender -
Consanguinity -
Country Brazil
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name Mev Dominguez Valentin
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by InSiGHT - John-Paul Plazzer


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000202808 DNA ? - - - 1 Mev Dominguez Valentin



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     

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     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
2 Unknown +/. - pathogenic g.48010395_48010398del g.47783256_47783259del 23_26delACAG - MSH6_000913 WT MaxEntScan score: 7.38; Variant MaxEntScan score: 7.38; Difference in MaxEntScan score between variant and WT (%): 0 PubMed: Rossi 2017 - - Germline - - - 0 - Mev Dominguez Valentin MSH6 - - - - 1 NM_000179.2:c.23_26del - r.(?) p.Tyr8SerfsTer8 - - - - - - - - - - - - - - - - - - -
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