Genomic variant #0000037148

Individual ID 00016177
Chromosome 17
Allele Parent #2
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.56798178G>T
Reference -
DB-ID RAD51C_000015 See all 8 reported entries
dbSNP ID rs587782702
Variant remarks -
Genetic origin Germline
Segregation ?
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00087
Allele Count 5
Allele Number 5764
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RAD51C NM_002876.3 +?/+? - c.*25624G>T r.(=) p.(=)
RAD51C NM_058216.2 +?/+? - c.904+5G>T r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000004959 DNA SEQ-NG 0 - 1 Despoina Kalfakakou