Individual #00024210

ID_report -
Reference PubMed: Thompson 2012, Journal: Thompson 2012
Remarks -
Gender F
Consanguinity -
Country Australia
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases cancer, breast
Owner name Ian Campbell


Phenotypes

cancer, breast (cancer, breast)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Diagnosis/Criteria     

Owner     
0000020312 - - - Unknown - - - - - - Ian Campbell



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000024202 DNA SEQ - - RAD51C 11 Ian Campbell



Variants

11 entries on 1 page. Showing entries 1 - 11.
Legend  

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     
17 Unknown -?/. g.56772341A>G - R65R - RAD51C_000018 not in 427 controls PubMed: Thompson 2012, Journal: Thompson 2012 - rs45511291 Unknown ? 2/1053 cases - 0 - Ian Campbell RAD51C - - - - - 2 NM_058216.1:c.195A>G - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
17 Unknown ?/. g.56772454_56772456del - 308_310delTCT - RAD51C_000006 not in 427 controls PubMed: Thompson 2012, Journal: Thompson 2012 - - Unknown ? 1/1053 cases - 0 - Ian Campbell RAD51C - - - - - 2 NM_058216.1:c.308_310del - - r.(?) p.(Phe103del) - - - - - - - - - - - - - - - - - - -
17 Unknown ?/. g.56772522G>A - - - RAD51C_000008 - PubMed: Thompson 2012, Journal: Thompson 2012 - rs61758784 Unknown ? 15/1053 cases - 0 - Ian Campbell RAD51C - - - - - 2 NM_058216.1:c.376G>A - - r.(?) p.(Ala126Thr) - - - - - - - - - - - - - - - - - - -
17 Unknown ?/. g.56774134G>A - - - RAD51C_000009 not in 190 controls PubMed: Thompson 2012, Journal: Thompson 2012 - rs35151472 Unknown ? 3/1053 cases - 0 - Ian Campbell RAD51C - - - - - 3 NM_058216.1:c.485G>A - - r.(?) p.(Gly162Glu) - - - - - - - - - - - - - - - - - - -
17 Unknown ?/. g.56774155T>C - - - RAD51C_000010 not in 190 controls PubMed: Thompson 2012, Journal: Thompson 2012 - - Unknown ? 1/1053 cases - 0 - Ian Campbell RAD51C - - - - - 3 NM_058216.1:c.506T>C - - r.(?) p.(Val169Ala) - - - - - - - - - - - - - - - - - - -
17 Unknown ?/. g.56774172G>A - - - RAD51C_000011 not in 190 controls PubMed: Thompson 2012, Journal: Thompson 2012 - - Unknown ? 1/1053 cases - 0 - Ian Campbell RAD51C - - - - - 3 NM_058216.1:c.523G>A - - r.(?) p.(Ala175Thr) - - - - - - - - - - - - - - - - - - -
17 Unknown ?/. g.56780540G>T - - - RAD51C_000020 - PubMed: Thompson 2012, Journal: Thompson 2012 - - Unknown ? 2/1053 cases - 0 - Ian Campbell RAD51C - - - - - 3i NM_058216.1:c.572-17G>T - - r.(spl?) p.(?) - - - - - - - - - - - - - - - - - - -
17 Unknown ?/. g.56787259C>T - - - RAD51C_000013 not in 427 controls PubMed: Thompson 2012, Journal: Thompson 2012 - rs28363311 Unknown ? 1/1053 cases - 0 - Ian Campbell RAD51C - - - - - 5 NM_058216.1:c.745C>T - - r.(?) p.(Arg249Cys) - - - - - - - - - - - - - - - - - - -
17 Unknown ?/. g.56787298T>G - - - RAD51C_000014 not in 427 controls PubMed: Thompson 2012, Journal: Thompson 2012 - - Unknown ? 1/1053 cases - 0 - Ian Campbell RAD51C - - - - - 5 NM_058216.1:c.784T>G - - r.(?) p.(Leu262Val) - - - - - - - - - - - - - - - - - - -
17 Unknown ?/. g.56787304G>A - - - RAD51C_000015 - PubMed: Thompson 2012, Journal: Thompson 2012 - - Unknown ? 8/1053 cases - 0 - Ian Campbell RAD51C - - - - - 5 NM_058216.1:c.790G>A - - r.(?) p.(Gly264Ser) - - - - - - - - - - - - - - - - - - -
17 Unknown ?/. g.56798128A>G - - - RAD51C_000016 not in 190 controls PubMed: Thompson 2012, Journal: Thompson 2012 - rs28363317 Unknown ? 14/1053 cases - 0 - Ian Campbell RAD51C - - - - - 6 NM_058216.1:c.859A>G - - r.(?) p.(Thr287Ala) - - - - - - - - - - - - - - - - - - -
Legend