Genomic variant #0000397470

Chromosome 3
DNA change (genomic) (Relative to hg19 / GRCh37) g.81810508G>C
Reference Copied from the Exome Variant Server
DB-ID GBE1_000134
Frequency 1/12158
Freq. EA 1/8272
Freq. AA 0/3886
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
GBE1 NM_000158.3 ?/? c.143+18C>G r.(=) p.(=)