Genomic variant #0000397408

Chromosome 3
DNA change (genomic) (Relative to hg19 / GRCh37) g.81640338G>A
Reference Copied from the Exome Variant Server
DB-ID GBE1_000062
Frequency 2/11848
Freq. EA 0/8180
Freq. AA 2/3668
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
GBE1 NM_000158.3 ?/? c.1109-23C>T r.(=) p.(=)