Genomic variant #0001354609

Chromosome 14
DNA change (genomic) (Relative to hg19 / GRCh37) g.96794842G>A
Reference Copied from the Exome Variant Server
DB-ID ATG2B_000241
Frequency 1/11864
Freq. EA 1/8188
Freq. AA 0/3676
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ATG2B NM_018036.5 ?/? c.2005C>T r.(?) p.(His669Tyr)