Genomic variant #0000397439

Chromosome 3
DNA change (genomic) (Relative to hg19 / GRCh37) g.81698902A>G
Reference Copied from the Exome Variant Server
DB-ID GBE1_000093
Frequency 1/11686
Freq. EA 1/8118
Freq. AA 0/3568
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
GBE1 NM_000158.3 ?/? c.555+45T>C r.(=) p.(=)