Genomic variant #0001964455

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.48374165C>G
Reference Copied from the Exome Variant Server
DB-ID PORCN_000043
Frequency 4/10563
Freq. EA 0/6728
Freq. AA 4/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PORCN NM_022825.2 ?/? c.974C>G r.(?) p.(Ala325Gly)