Genomic variant #0001560866

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.12905920T>C
Reference Copied from the Exome Variant Server
DB-ID ELAC2_000127
Frequency 1/13000
Freq. EA 1/8596
Freq. AA 0/4404
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ELAC2 NM_001165962.1 ?/? c.960-24A>G r.(=) p.(=)