Variant #0000579168 (NC_000005.9:g.135382678A>T, NM_000358.2:c.598A>T (TGFBI))

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.135382678A>T
Reference Copied from the {URL:Exome Variant Server:http://evs.gs.washington.edu/EVS/}
DB-ID TGFBI_000048
Frequency 5/12462
Freq. EA 0/8396
Freq. AA 5/4066
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 16:26:58 +02:00 (CEST)
Date last edited 2013-05-04 07:25:53 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TGFBI NM_000358.2 ?/? c.598A>T r.(?) p.(Ile200Phe)