Genomic variant #0001560936

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.12920253A>G
Reference Copied from the Exome Variant Server
DB-ID ELAC2_000197
Frequency 1/13006
Freq. EA 1/8600
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ELAC2 NM_001165962.1 ?/? c.297-4T>C r.spl? p.?