Genomic variant #0001354622

Chromosome 14
DNA change (genomic) (Relative to hg19 / GRCh37) g.96795856T>C
Reference Copied from the Exome Variant Server
DB-ID ATG2B_000254
Frequency 1/11766
Freq. EA 0/8144
Freq. AA 1/3622
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ATG2B NM_018036.5 ?/? c.1846A>G r.(?) p.(Thr616Ala)