Genomic variant #0001560949

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.12921085C>T
Reference Copied from the Exome Variant Server
DB-ID ELAC2_000210
Frequency 1/12820
Freq. EA 1/8500
Freq. AA 0/4320
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ELAC2 NM_001165962.1 ?/? c.180G>A r.(=) p.(=)