Genomic variant #0001560938

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.12920263A>C
Reference Copied from the Exome Variant Server
DB-ID ELAC2_000199
Frequency 1/13006
Freq. EA 0/8600
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.297-14T>G r.(=) p.(=)