Genomic variant #0000392518

Chromosome 3
DNA change (genomic) (Relative to hg19 / GRCh37) g.59997117_59997118insG
Reference Copied from the Exome Variant Server
DB-ID FHIT_000030
Frequency 1/12520
Freq. EA 1/8254
Freq. AA 0/4266
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
FHIT NM_002012.2 ?/? c.258_259insC r.(?) p.(Glu87Argfs*25)