Genomic variant #0001354700

Chromosome 14
DNA change (genomic) (Relative to hg19 / GRCh37) g.96829274_96829275insG
Reference Copied from the Exome Variant Server
DB-ID ATG2B_000332
Frequency 96/11890
Freq. EA 57/8024
Freq. AA 39/3866
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ATG2B NM_018036.5 ?/? c.39_40insC r.(?) p.(Cys14Leufs*45)