Genomic variant #0000020554

Individual ID 00016969
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.148543694del
Reference -
DB-ID EZH2_000030
dbSNP ID rs3214332
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.118-4del r.spl? p.?
EZH2 NM_001203248.1 -/- - c.118-4del r.spl? p.?
EZH2 NM_001203249.1 -/- - c.118-4del r.spl? p.?
EZH2 NM_004456.4 -/- - c.118-4del r.spl? p.?
EZH2 NM_152998.2 -/- - c.118-4del r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000740 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou