Genomic variant #0000019318

Individual ID 00016901
Chromosome 17
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.56774080T>C
Reference -
DB-ID RAD51C_000018 See all 3 reported entries
dbSNP ID rs28363307
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 0.00052
Allele Count 3
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.*1526T>C r.(=) p.(=)
RAD51C NM_058216.2 ?/? - c.431T>C r.(?) p.(Ile144Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000648 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou