Variant #0001489575 (NC_000016.9:g.48264440_48264441del, NM_032583.3:c.143_144del (ABCC11))

Chromosome 16
DNA change (genomic) (Relative to hg19 / GRCh37) g.48264440_48264441del
Reference Copied from the {URL:Exome Variant Server:http://evs.gs.washington.edu/EVS/}
DB-ID ABCC11_000328
Frequency 2/12518
Freq. EA 1/8254
Freq. AA 1/4264
Average frequency (gnomAD v.2.1.1) -
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Ivo F.A.C. Fokkema
Date created 2013-05-03 16:42:42 +02:00 (CEST)
Date last edited 2018-08-23 00:31:22 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ABCC11 NM_032583.3 ?/? c.143_144del r.(?) p.(Arg48Lysfs*3)