Genomic variant #0001964447

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.48372755_48372756insG
Reference Copied from the Exome Variant Server
DB-ID PORCN_000035
Frequency 25/10167
Freq. EA 12/6463
Freq. AA 13/3704
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PORCN NM_022825.2 ?/? c.812+2_812+3insG r.spl? p.?