Genomic variant #0000756599

Chromosome 7
DNA change (genomic) (Relative to hg19 / GRCh37) g.87069618A>G
Reference Copied from the Exome Variant Server
DB-ID ABCB4_000135
Frequency 1/13006
Freq. EA 1/8600
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ABCB4 NM_000443.3 ?/? c.1457T>C r.(?) p.(Ile486Thr)