Genomic variant #0001948561

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.229417C>T
Reference Copied from the Exome Variant Server
DB-ID GTPBP6_000129
Frequency 2/12090
Freq. EA 2/8200
Freq. AA 0/3890
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
GTPBP6 NM_012227.2 ?/? c.230+16G>A r.(=) p.(=)