Genomic variant #0000040330

Individual ID 00021400
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.56770084T>C
Reference -
DB-ID RAD51C_000006 See all 10 reported entries
dbSNP ID rs587781309
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_002876.3 ?/? - c.80T>C r.(?) p.(Leu27Pro)
RAD51C NM_058216.2 ?/? - c.80T>C r.(?) p.(Leu27Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007363 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou