Genomic variant #0000027209

Individual ID 00020620
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.33430464A>G
Reference -
DB-ID RAD51D_000015 See all 2 reported entries
dbSNP ID  rs772193051
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 5754
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RAD51D NM_001142571.1 -?/-? - c.727+9T>C r.(=) p.(=)
RAD51D NM_002878.3 -?/-? - c.667+9T>C r.(=) p.(=)
RAD51D NM_133629.2 -?/-? - c.331+9T>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001400 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou