Genomic variant #0000637922

Chromosome 6
DNA change (genomic) (Relative to hg19 / GRCh37) g.31656793del
Reference Copied from the Exome Variant Server
DB-ID ABHD16A_000032
Frequency 1/12518
Freq. EA 0/8254
Freq. AA 1/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ABHD16A NM_001177515.1 ?/? c.1086del r.(?) p.(Trp362*)