Genomic variant #0001964435

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.48371202_48371208del
Reference Copied from the Exome Variant Server
DB-ID PORCN_000023
Frequency 215/10205
Freq. EA 160/6484
Freq. AA 55/3721
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PORCN NM_022825.2 ?/? c.686+95_686+101del r.(=) p.(=)