Genomic variant #0001354675

Chromosome 14
DNA change (genomic) (Relative to hg19 / GRCh37) g.96809547T>C
Reference Copied from the Exome Variant Server
DB-ID ATG2B_000307
Frequency 1/12078
Freq. EA 0/8252
Freq. AA 1/3826
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ATG2B NM_018036.5 ?/? c.653A>G r.(?) p.(His218Arg)