Genomic variant #0001560922

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.12917866G>C
Reference Copied from the Exome Variant Server
DB-ID ELAC2_000183
Frequency 4/4564
Freq. EA 0/3180
Freq. AA 4/1384
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ELAC2 NM_001165962.1 ?/? c.433-53C>G r.(=) p.(=)