Variant #0000694389 (NC_000006.11:g.134495169G>C, NM_001143676.1:c.487C>G (SGK1))

Chromosome 6
DNA change (genomic) (Relative to hg19 / GRCh37) g.134495169G>C
Reference Copied from the {URL:Exome Variant Server:http://evs.gs.washington.edu/EVS/}
DB-ID SGK1_000091
Frequency 1/13006
Freq. EA 1/8600
Freq. AA 0/4406
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 16:27:59 +02:00 (CEST)
Date last edited 2013-05-04 10:41:38 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SGK1 NM_001143676.1 ?/? c.487C>G r.(?) p.(Leu163Val)