Genomic variant #0001960930

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.38240670C>T
Reference Copied from the Exome Variant Server
DB-ID OTC_000020
Frequency 1/10561
Freq. EA 1/6728
Freq. AA 0/3833
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
OTC NM_000531.5 ?/? c.374C>T r.(?) p.(Thr125Met)