Genomic variant #0000040108

Individual ID 00021991
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.232995439T>G
Reference -
DB-ID DIS3L2_000015 See all 20 reported entries
dbSNP ID rs184764939
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 0.0033
Allele Count 19
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.702+10T>G r.(=) p.(=)
DIS3L2 NM_001257282.1 -/- - c.712T>G r.(?) p.(Tyr238Asp)
DIS3L2 NM_152383.4 -/- - c.702+10T>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007004 DNA SEQ-NG - - 10 Despoina Kalfakakou