Genomic variant #0000033758

Individual ID 00017869
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.148506292C>T
Reference -
DB-ID EZH2_000018 See all 3 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 0.00052
Allele Count 3
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.2096-45G>A r.(=) p.(=)
EZH2 NM_001203248.1 ?/? - c.2069-45G>A r.(=) p.(=)
EZH2 NM_001203249.1 ?/? - c.1943-45G>A r.(=) p.(=)
EZH2 NM_004456.4 ?/? - c.2111-45G>A r.(=) p.(=)
EZH2 NM_152998.2 ?/? - c.1979-45G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001989 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou