Genomic variant #0000046652

Individual ID 00024179
Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.56787304G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID RAD51C_000015 See all 13 reported entries
Variant remarks not in 76 BRCA2 carriers or 101 controls
Reference -
ClinVar ID -
dbSNP ID rs147241704
Origin Germline
Segregation ?
Frequency 4/907 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00308 View details
Owner Christine Rappaport




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     
RAD51C NM_058216.1 ?/. 5 c.790G>A - r.(?) p.(Gly264Ser) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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