Genomic variant #0001964467

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.48375671C>T
Reference Copied from the Exome Variant Server
DB-ID PORCN_000055
Frequency 6/10404
Freq. EA 0/6607
Freq. AA 6/3797
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PORCN NM_022825.2 ?/? c.1241C>T r.(?) p.(Thr414Ile)