Genomic variant #0001964472

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.48378806G>C
Reference Copied from the Exome Variant Server
DB-ID PORCN_000060
Frequency 1/10563
Freq. EA 1/6728
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.1295G>C r.(?) p.(Ser432Thr)