Genomic variant #0001560939

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.12920358_12920359insC
Reference Copied from the Exome Variant Server
DB-ID ELAC2_000200
Frequency 1/12512
Freq. EA 1/8250
Freq. AA 0/4262
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ELAC2 NM_001165962.1 ?/? c.296+29_296+30insG r.(=) p.(=)