Genomic variant #0000036896

Individual ID 00015471
Chromosome 17
Allele Both (homozygous)
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.56772854A>G
Reference -
DB-ID RAD51C_000036
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 0.00035
Allele Count 2
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.*300A>G r.(=) p.(=)
RAD51C NM_058216.2 ?/? - c.404+304A>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000004718 DNA SEQ 1 BRCA1, BRCA2, RAD51C 1 Despoina Kalfakakou