Genomic variant #0001624370

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.67190537_67190540del
Reference Copied from the Exome Variant Server
DB-ID ABCA10_000223
Frequency 915/12512
Freq. EA 548/8248
Freq. AA 367/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ABCA10 NM_080282.3 ?/? c.1331_1334del r.(?) p.(Ser444Phefs*17)