Genomic variant #0000226950

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.44079721_44079722del
Reference Copied from the Exome Variant Server
DB-ID ABCG8_000073
Frequency 109/12520
Freq. EA 1/8254
Freq. AA 108/4266
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ABCG8 NM_022437.2 ?/? c.695-17_695-16del r.(=) p.(=)