Screening #0000024186

Individual ID 00024194
Template DNA
Technique PCR;SEQ
Tissue -
Remarks -
Variants found? 3
Owner name Johan den Dunnen


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
RAD51C RAD51 homolog C (S. cerevisiae) 17 q25.1 1 114 55 2019-01-22 BROVCA-3, FANCO



Variants found

3 entries on 1 page. Showing entries 1 - 3.
Legend  

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     

Protein/Legacy     

CodonNr     

Method     

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/Stain     

Protein level     
17 Parent #1 g.56772522G>A - - - RAD51C_000008 normal complementation RAD51C mutated cells PubMed: Meindl 2010 - - Unknown ? 8/2912 controls - 0 - Johan den Dunnen RAD51C -?/. - - - - - 2 NM_058216.1:c.376G>A - - r.(?) p.(Ala126Thr) - - - - - - - - - - - - - - - - - - - - - - -
17 Parent #1 g.56787304G>A - - - RAD51C_000015 partial complementation RAD51C mutated cells PubMed: Meindl 2010 - - Unknown ? 16/2912 controls - 0 - Johan den Dunnen RAD51C -?/. - - - - - 5 NM_058216.1:c.790G>A - - r.(?) p.(Gly264Ser) - - - - - - - - - - - - - - - - - - - - - - -
17 Parent #1 g.56798128A>G - - - RAD51C_000016 partial complementation RAD51C mutated cells PubMed: Meindl 2010 - - Unknown ? 35/2912 controls - 0 - Johan den Dunnen RAD51C -?/. - - - - - 6 NM_058216.1:c.859A>G - - r.(?) p.(Thr287Ala) - - - - - - - - - - - - - - - - - - - - - - -
Legend