Genomic variant #0000034573

Individual ID 00017926
Chromosome 2
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.232894725G>T
Reference -
DB-ID DIS3L2_000051 See all 16 reported entries
dbSNP ID rs199857926
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 0.00271
Allele Count 16
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.301G>T r.(?) p.(Ala101Ser)
DIS3L2 NM_001257282.1 ?/? - c.301G>T r.(?) p.(Ala101Ser)
DIS3L2 NM_152383.4 ?/? - c.301G>T r.(?) p.(Ala101Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002067 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou