Genomic variant #0001964426

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.48370792C>T
Reference Copied from the Exome Variant Server
DB-ID PORCN_000014
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.452C>T r.(?) p.(Ser151Leu)