Genomic variant #0001560903

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.12916463C>T
Reference Copied from the Exome Variant Server
DB-ID ELAC2_000164
Frequency 13/4566
Freq. EA 0/3182
Freq. AA 13/1384
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ELAC2 NM_001165962.1 ?/? c.559+61G>A r.(=) p.(=)