Genomic variant #0000397466

Chromosome 3
DNA change (genomic) (Relative to hg19 / GRCh37) g.81754806A>G
Reference Copied from the Exome Variant Server
DB-ID GBE1_000126
Frequency 3/11324
Freq. EA 0/7884
Freq. AA 3/3440
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
GBE1 NM_000158.3 ?/? c.144-42T>C r.(=) p.(=)