Variant #0001875444 (NC_000021.8:g.10906947G>A, NM_199259.2:c.1560C>T (TPTE))

Chromosome 21
DNA change (genomic) (Relative to hg19 / GRCh37) g.10906947G>A
Reference Copied from the {URL:Exome Variant Server:http://evs.gs.washington.edu/EVS/}
DB-ID TPTE_000011
Frequency 140/13006
Freq. EA 50/8600
Freq. AA 90/4406
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 16:49:50 +02:00 (CEST)
Date last edited 2014-05-04 14:00:42 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TPTE NM_199259.2 ?/? c.1560C>T r.(=) p.(=)