Genomic variant #0000032264

Individual ID 00021667
Chromosome 2
Allele Parent #2
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.233164770G>A
Reference -
DB-ID DIS3L2_000094
dbSNP ID rs377644356
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 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DIS3L2 NM_001257281.1 -/- - c.1581+36698G>A r.(=) p.(=)
DIS3L2 NM_152383.4 -/- - c.1680G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001871 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou