Genomic variant #0001563597

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.17410527_17410530del
Reference Copied from the Exome Variant Server
DB-ID PEMT_000020
Frequency 54/6956
Freq. EA 38/4658
Freq. AA 16/2298
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PEMT NM_007169.2 ?/? c.468-915_468-912del r.(=) p.(=)