Genomic variant #0001948596

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.230795C>T
Reference Copied from the Exome Variant Server
DB-ID GTPBP6_000164
Frequency 4/12522
Freq. EA 1/8372
Freq. AA 3/4150
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
GTPBP6 NM_012227.2 ?/? c.71+22G>A r.(=) p.(=)