Genomic variant #0001560864

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.12905904G>T
Reference Copied from the Exome Variant Server
DB-ID ELAC2_000125
Frequency 1/13002
Freq. EA 0/8596
Freq. AA 1/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ELAC2 NM_001165962.1 ?/? c.960-8C>A r.(=) p.(=)