Genomic variant #0000012426

Individual ID 00016655
Chromosome 7
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.148504771A>G
Reference -
DB-ID EZH2_000019
dbSNP ID rs748102400
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.2208T>C r.(=) p.(=)
EZH2 NM_001203248.1 -?/-? - c.2181T>C r.(=) p.(=)
EZH2 NM_001203249.1 -?/-? - c.2055T>C r.(=) p.(=)
EZH2 NM_004456.4 -?/-? - c.2223T>C r.(=) p.(=)
EZH2 NM_152998.2 -?/-? - c.2091T>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000323 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou