Genomic variant #0001624364

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.67190099_67190100del
Reference Copied from the Exome Variant Server
DB-ID ABCA10_000217
Frequency 2/12502
Freq. EA 0/8244
Freq. AA 2/4258
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ABCA10 NM_080282.3 ?/? c.1376_1377del r.(?) p.(Ser459*)