Genomic variant #0000442371

Chromosome 3
DNA change (genomic) (Relative to hg19 / GRCh37) g.183696421C>T
Reference Copied from the Exome Variant Server
DB-ID ABCC5_000171
Frequency 1/12310
Freq. EA 1/8340
Freq. AA 0/3970
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ABCC5 NM_005688.2 ?/? c.1166G>A r.(?) p.(Arg389His)