Genomic variant #0001354608

Chromosome 14
DNA change (genomic) (Relative to hg19 / GRCh37) g.96794794C>T
Reference Copied from the Exome Variant Server
DB-ID ATG2B_000240
Frequency 1/11978
Freq. EA 1/8236
Freq. AA 0/3742
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ATG2B NM_018036.5 ?/? c.2053G>A r.(?) p.(Asp685Asn)