Genomic variant #0000002679

Individual ID 00016310
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.233028241C>T
Reference -
DB-ID DIS3L2_000010 See all 9 reported entries
dbSNP ID rs201122747
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 0.00216
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DIS3L2 NM_001257281.1 -?/-? - c.1023C>T r.(=) p.(=)
DIS3L2 NM_152383.4 -?/-? - c.1023C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000066 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou