Genomic variant #0000039265

Individual ID 00021438
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.56772509_56772510del
Reference -
DB-ID RAD51C_000038
dbSNP ID -
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 0.00017
Allele Count 1
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.363_364del r.(?) p.(Glu122Asnfs*16)
RAD51C NM_058216.2 +/+ - c.363_364del r.(?) p.(Glu122Asnfs*32)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006951 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou