Genomic variant #0000032668

Individual ID 00021694
Chromosome 11
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.47256235G>C
Reference -
DB-ID DDB2_000027 See all 2 reported entries
dbSNP ID rs55847708
Genetic origin -
Segregation -
Is Greek Founder -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00035
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DDB2 NM_000107.2 ./. - c.702+12G>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001906 DNA SEQ-NG-I 1 - 71 Despoina Kalfakakou