Genomic variant #0001624366

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.67190118_67190119del
Reference Copied from the Exome Variant Server
DB-ID ABCA10_000219
Frequency 1406/12500
Freq. EA 11/8244
Freq. AA 1395/4256
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ABCA10 NM_080282.3 ?/? c.1357_1358del r.(?) p.(Ile453Leufs*2)