Genomic variant #0001560862

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.12905790T>C
Reference Copied from the Exome Variant Server
DB-ID ELAC2_000123
Frequency 3/13006
Freq. EA 0/8600
Freq. AA 3/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ELAC2 NM_001165962.1 ?/? c.1066A>G r.(?) p.(Ile356Val)