Genomic variant #0000397458

Chromosome 3
DNA change (genomic) (Relative to hg19 / GRCh37) g.81754580C>T
Reference Copied from the Exome Variant Server
DB-ID GBE1_000112
Frequency 3/11730
Freq. EA 2/8130
Freq. AA 1/3600
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
GBE1 NM_000158.3 ?/? c.313+15G>A r.(=) p.(=)