Genomic variant #0000397445

Chromosome 3
DNA change (genomic) (Relative to hg19 / GRCh37) g.81699035C>T
Reference Copied from the Exome Variant Server
DB-ID GBE1_000099
Frequency 1/11966
Freq. EA 1/8222
Freq. AA 0/3744
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
GBE1 NM_000158.3 ?/? c.467G>A r.(?) p.(Arg156His)