Genomic variant #0000009150

Individual ID 00016542
Chromosome 2
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.233198588A>G
Reference -
DB-ID DIS3L2_000029 See all 4 reported entries
dbSNP ID rs757277629
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 0.00068
Allele Count 4
Allele Number 5900
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DIS3L2 NM_001257281.1 -?/-? - c.1582-9467A>G r.(=) p.(=)
DIS3L2 NM_152383.4 -?/-? - c.2049A>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000245 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou