Genomic variant #0001563622

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.17425742T>C
Reference Copied from the Exome Variant Server
DB-ID PEMT_000045
Frequency 1/13000
Freq. EA 1/8594
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PEMT NM_007169.2 ?/? c.94-33A>G r.(=) p.(=)