Genomic variant #0001354682

Chromosome 14
DNA change (genomic) (Relative to hg19 / GRCh37) g.96811065T>C
Reference Copied from the Exome Variant Server
DB-ID ATG2B_000314
Frequency 2/11700
Freq. EA 0/8104
Freq. AA 2/3596
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ATG2B NM_018036.5 ?/? c.507A>G r.(?) p.(Ile169Met)