Individual #00046328

ID_report -
Reference -
Remarks 1 breast-ovarian cancer families (kConFab)
Gender -
Consanguinity -
Country Australia;New Zealand
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases cancer, breast
Owner name kConFab - Heather Thorne


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000046433 DNA SEQ - - MSH2 1 kConFab - Heather Thorne



Variants

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Chr     

Allele     

Effect     

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     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

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     

Protein level     
2 Unknown +/+ g.47702181C>T g.47475042C>T MSH2 c.1777 C>T p.Gln593X - MSH2_000523 - kConFab variant classification: P - - Unknown - 1/1658 - 0 - kConFab - Heather Thorne MSH2 - - - - - 12 NM_000251.2:c.1777C>T - kConFab: P r.(?) p.(Gln593*) - - - - - - - - - - - - - - - - - - -
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