Individual #00024179

ID_report -
Reference -
Remarks study subjects from breast/ovarian high risk families
Gender -
Consanguinity -
Country - (not applicable)
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 907
Diseases BROVCA
Owner name Christine Rappaport


Phenotypes

cancer, breast-ovarian, familial, susceptibility to (BROVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000020281 - - - Familial - - - - - Christine Rappaport



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000024166 DNA PCR;SEQ;MLPA - - RAD51C 9 Christine Rappaport



Variants

9 entries on 1 page. Showing entries 1 - 9.
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Chr     

Allele     

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     

Effect     

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.56769979C>T - - - RAD51C_000022 - - - rs12946397 Germline ? 321/907 cases - 0 - Christine Rappaport RAD51C -?/. - - - - - 1 NM_058216.1:c.-26C>T - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
17 Unknown g.56770161T>G - - - RAD51C_000026 not in 159 BRCA1/76 BRCA2 carriers or 101 controls - - rs377297129 Germline ? 4/907 cases - 0 - Christine Rappaport RAD51C ?/. - - - - - 1i NM_058216.1:c.145+12T>G - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
17 Unknown g.56772284A>G - - - RAD51C_000028 not in 159 BRCA1/76 BRCA2 carriers or 101 controls - - rs201079501 Germline ? 2/907 cases - 0 - Christine Rappaport RAD51C -?/. - - - - - 1i NM_058216.1:c.146-8A>G - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
17 Unknown g.56772522G>A - - - RAD51C_000008 not in 101 controls - - rs61758784 Germline ? 11/907 cases - 0 - Christine Rappaport RAD51C -?/. - - - - - 2 NM_058216.1:c.376G>A - - r.(?) p.(Ala126Thr) - - - - - - - - - - - - - - - - - - -
17 Unknown g.56774080T>C - - - RAD51C_000033 not in 159 BRCA1/76 BRCA2 carriers or 101 controls - - rs28363307 Germline ? 1/907 cases - 0 - Christine Rappaport RAD51C ?/. - - - - - 3 NM_058216.1:c.431T>C - - r.(?) p.(Ile144Thr) - - - - - - - - - - - - - - - - - - -
17 Unknown g.56780540G>T - - - RAD51C_000038 - - - rs193023469 Germline ? 11/907 cases - 0 - Christine Rappaport RAD51C -?/. - - - - - 3i NM_058216.1:c.572-17G>T - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
17 Unknown g.56787304G>A - - - RAD51C_000015 not in 76 BRCA2 carriers or 101 controls - - rs147241704 Germline ? 4/907 cases - 0 - Christine Rappaport RAD51C ?/. - - - - - 5 NM_058216.1:c.790G>A - - r.(?) p.(Gly264Ser) - - - - - - - - - - - - - - - - - - -
17 Unknown g.56798128A>G - - - RAD51C_000016 not in 101 controls - - rs28363317 Germline ? 15/907 cases - 0 - Christine Rappaport RAD51C -?/. - - - - - 6 NM_058216.1:c.859A>G - - r.(?) p.(Thr287Ala) - - - - - - - - - - - - - - - - - - -
17 Unknown g.56811608C>G - - - RAD51C_000024 not in 159 BRCA1/76 BRCA2 carriers or 101 controls - - rs28363336 Germline ? 1/907 cases - 0 - Christine Rappaport RAD51C ?/. - - - - - 9 NM_058216.1:c.*25C>G - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
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