Individual #00202047

ID_report -
Reference PubMed: Lagerstedt-Robinson 2016
Remarks -
Gender -
Consanguinity -
Country Sweden
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases HNPCC
Owner name Kristina Lagerstedt Robinson
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     
0000203078 DNA ? - - - 1 Kristina Lagerstedt Robinson



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     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
2 Unknown +/. - pathogenic g.(47630542_47635539)_(47657081_47672686)del - Deletion exons 2–7 - MSH2_001605 - PubMed: Lagerstedt-Robinson 2016 - - Germline - - - - - Kristina Lagerstedt Robinson MSH2 - - - - 1i_7i NM_000251.2:c.(211+1_212-1)_(1276+1_1277-1)del - r.spl p.(Ala72_Gly426del) - - - - - - - - - - - - - - - - - - -
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