Genomic variant #0001964468

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.48375713C>A
Reference Copied from the Exome Variant Server
DB-ID PORCN_000056
Frequency 648/9999
Freq. EA 13/6327
Freq. AA 635/3672
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PORCN NM_022825.2 ?/? c.1251+32C>A r.(=) p.(=)