Variant #0001034529 (NC_000010.10:g.124339145G>A, NM_004406.2:c.731G>A (DMBT1))

Chromosome 10
DNA change (genomic) (Relative to hg19 / GRCh37) g.124339145G>A
Reference Copied from the {URL:Exome Variant Server:http://evs.gs.washington.edu/EVS/}
DB-ID DMBT1_000087
Frequency 2/12372
Freq. EA 0/8362
Freq. AA 2/4010
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 16:30:47 +02:00 (CEST)
Date last edited 2013-05-04 20:51:14 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
DMBT1 NM_004406.2 ?/? c.731G>A r.(?) p.(Arg244Gln)