Genomic variant #0000018351

Individual ID 00016843
Chromosome 7
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.148512083C>T
Reference -
DB-ID EZH2_000023 See all 2 reported entries
dbSNP ID -
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 0.00035
Allele Count 2
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EZH2 NM_001203247.1 ?/? - c.1580G>A r.(?) p.(Arg527Gln)
EZH2 NM_001203248.1 ?/? - c.1553G>A r.(?) p.(Arg518Gln)
EZH2 NM_001203249.1 ?/? - c.1504+515G>A r.(=) p.(=)
EZH2 NM_004456.4 ?/? - c.1595G>A r.(?) p.(Arg532Gln)
EZH2 NM_152998.2 ?/? - c.1463G>A r.(?) p.(Arg488Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000567 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou