Genomic variant #0001623479

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.66928688C>T
Reference Copied from the Exome Variant Server
DB-ID ABCA8_000317
Frequency 1064/13000
Freq. EA 17/8600
Freq. AA 1047/4400
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ABCA8 NM_007168.2 ?/? c.571-33G>A r.(=) p.(=)