Genomic variant #0001948590

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.230762C>T
Reference Copied from the Exome Variant Server
DB-ID GTPBP6_000158
Frequency 2/4566
Freq. EA 1/3182
Freq. AA 1/1384
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+55G>A r.(=) p.(=)