Variant #0000579169 (NC_000005.9:g.135382727G>T, NC_000005.9(NM_000358.2):c.624+23G>T (TGFBI))

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.135382727G>T
Reference Copied from the {URL:Exome Variant Server:http://evs.gs.washington.edu/EVS/}
DB-ID TGFBI_000049
Frequency 1/12330
Freq. EA 1/8334
Freq. AA 0/3996
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 07:25:54 +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.624+23G>T r.(=) p.(=)