Genomic variant #0001560943

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.12921006G>A
Reference Copied from the Exome Variant Server
DB-ID ELAC2_000204
Frequency 1/12972
Freq. EA 1/8590
Freq. AA 0/4382
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ELAC2 NM_001165962.1 ?/? c.245+14C>T r.(=) p.(=)