Genomic variant #0001948557

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.229400C>T
Reference Copied from the Exome Variant Server
DB-ID GTPBP6_000125
Frequency 1/12058
Freq. EA 1/8190
Freq. AA 0/3868
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+33G>A r.(=) p.(=)