Genomic variant #0001964470

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.48378718C>A
Reference Copied from the Exome Variant Server
DB-ID PORCN_000058
Frequency 1/10563
Freq. EA 0/6728
Freq. AA 1/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PORCN NM_022825.2 ?/? c.1252-45C>A r.(=) p.(=)