Genomic variant #0001563579

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.17409060_17409071del
Reference Copied from the Exome Variant Server
DB-ID PEMT_000002
Frequency 16/12508
Freq. EA 14/8248
Freq. AA 2/4260
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PEMT NM_007169.2 ?/? c.*34_*45del r.(=) p.(=)