Genomic variant #0001964419

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.48370251del
Reference Copied from the Exome Variant Server
DB-ID PORCN_000007
Frequency 209/10205
Freq. EA 132/6484
Freq. AA 77/3721
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PORCN NM_022825.2 ?/? c.330-29del r.(=) p.(=)