Genomic variant #0000037174

Individual ID 00016275
Chromosome 17
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.56787218A>G
Reference -
DB-ID RAD51C_000008 See all 16 reported entries
dbSNP ID  rs587780259
Variant remarks -
Genetic origin Germline
Segregation ?
Also Known As -
Is Greek Founder Yes
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00208
Allele Count 12
Allele Number 5764
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RAD51C NM_058216.2 +/+ - c.706-2A>G r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000004985 DNA SEQ 1 RAD51C 1 Despoina Kalfakakou