Genomic variant #0000299240

Chromosome 17
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.56787304G>A
DNA change (hg38) -
Published as RAD51C:c.790G>A (G264S)
ISCN -
DB-ID RAD51C_000015 See all 13 reported entries
Variant remarks VKGL data sharing initiative Nederland; correct HGVS to be checked
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00308 View details
Owner VKGL-NL_VUmc




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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