Genomic variant #0001948585

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.229604C>A
Reference Copied from the Exome Variant Server
DB-ID GTPBP6_000153
Frequency 1/12292
Freq. EA 0/8300
Freq. AA 1/3992
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
GTPBP6 NM_012227.2 ?/? c.72-13G>T r.(=) p.(=)