Genomic variant #0000043931

Individual ID 00022107
Chromosome 2
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.232952256C>T
Reference -
DB-ID DIS3L2_000118 See all 2 reported entries
dbSNP ID rs73001172
Variant remarks -
Genetic origin -
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Retrieve
Average frequency in greek population 0.00034
Allele Count 2
Allele Number 5900
Owner Stevi Xera
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DIS3L2 NM_001257281.1 ./. - c.426C>T r.(=) p.(=)
DIS3L2 NM_001257282.1 ./. - c.426C>T r.(=) p.(=)
DIS3L2 NM_152383.4 ./. - c.426C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007605 DNA SEQ-NG-I 1 - 36 Stevi Xera