Genomic variant #0000397389

Chromosome 3
DNA change (genomic) (Relative to hg19 / GRCh37) g.81630344C>A
Reference Copied from the Exome Variant Server
DB-ID GBE1_000043
Frequency 1/11972
Freq. EA 1/8210
Freq. AA 0/3762
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
GBE1 NM_000158.3 ?/? c.1418G>T r.(?) p.(Cys473Phe)