Genomic variant #0001948518

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.228082T>C
Reference Copied from the Exome Variant Server
DB-ID GTPBP6_000086
Frequency 3/12682
Freq. EA 0/8420
Freq. AA 3/4262
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
GTPBP6 NM_012227.2 ?/? c.439+4A>G r.spl? p.?