Genomic variant #0000397430

Chromosome 3
DNA change (genomic) (Relative to hg19 / GRCh37) g.81698005A>G
Reference Copied from the Exome Variant Server
DB-ID GBE1_000081
Frequency 13/11684
Freq. EA 13/8106
Freq. AA 0/3578
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
GBE1 NM_000158.3 ?/? c.691+2T>C r.spl? p.?