Genomic variant #0001955732

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.18807264C>T
Reference Copied from the Exome Variant Server
DB-ID PPEF1_000048
Frequency 3/10563
Freq. EA 0/6728
Freq. AA 3/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PPEF1 NM_006240.2 ?/? c.938C>T r.(?) p.(Thr313Met)