Genomic variant #0000040308

Individual ID 00021508
Chromosome 17
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.56798128A>G
Reference -
DB-ID RAD51C_000010 See all 10 reported entries
dbSNP ID rs28363317
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 0.00173
Allele Count 10
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.859A>G r.(?) p.(Thr287Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007419 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou