Genomic variant #0000028946

Individual ID 00020470
Chromosome 7
Allele Parent #2
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.148512141G>A
Reference -
DB-ID EZH2_000052
dbSNP ID rs202184941
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 0.00017
Allele Count 1
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.1532-10C>T r.(=) p.(=)
EZH2 NM_001203248.1 -/- - c.1505-10C>T r.(=) p.(=)
EZH2 NM_001203249.1 -/- - c.1504+457C>T r.(=) p.(=)
EZH2 NM_004456.4 -/- - c.1547-10C>T r.(=) p.(=)
EZH2 NM_152998.2 -/- - c.1415-10C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001555 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou