Genomic variant #0000041752

Individual ID 00022040
Chromosome 7
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.148511171C>T
Reference -
DB-ID EZH2_000064 See all 2 reported entries
dbSNP ID rs41277437
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     
EZH2 NM_001203247.1 ./. - c.1716G>A r.(=) p.(=)
EZH2 NM_001203248.1 ./. - c.1689G>A r.(=) p.(=)
EZH2 NM_001203249.1 ./. - c.1563G>A r.(=) p.(=)
EZH2 NM_004456.4 ./. - c.1731G>A r.(=) p.(=)
EZH2 NM_152998.2 ./. - c.1599G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007537 DNA SEQ-NG-I 1 - 47 Stevi Xera