Genomic variant #0001960940

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.38260670C>T
Reference Copied from the Exome Variant Server
DB-ID OTC_000030
Frequency 1/10561
Freq. EA 0/6728
Freq. AA 1/3833
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
OTC NM_000531.5 ?/? c.529C>T r.(?) p.(Leu177Phe)