Genomic variant #0001964428

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.48370888G>A
Reference Copied from the Exome Variant Server
DB-ID PORCN_000016
Frequency 1/10562
Freq. EA 1/6727
Freq. AA 0/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PORCN NM_022825.2 ?/? c.548G>A r.(?) p.(Arg183His)