Genomic variant #0001964465

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.48375579G>T
Reference Copied from the Exome Variant Server
DB-ID PORCN_000053
Frequency 1/10399
Freq. EA 0/6611
Freq. AA 1/3788
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PORCN NM_022825.2 ?/? c.1149G>T r.(=) p.(=)