Genomic variant #0000030667

Individual ID 00017772
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.148511069A>G
Reference -
DB-ID EZH2_000057
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 0.00024
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EZH2 NM_001203247.1 ?/? - c.1818T>C r.(=) p.(=)
EZH2 NM_001203248.1 ?/? - c.1791T>C r.(=) p.(=)
EZH2 NM_001203249.1 ?/? - c.1665T>C r.(=) p.(=)
EZH2 NM_004456.4 ?/? - c.1833T>C r.(=) p.(=)
EZH2 NM_152998.2 ?/? - c.1701T>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001717 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou