All variants in the DUOX2 gene

Information The variants shown are described using the transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     
+/. - c.1588A>T - r.(?) p.(Lys530*) Pathogenic g.45107450T>A - Yock-Ping Chow et al.(2017) DUOX2_000001 rs180671269 - - Nur Aisyah Athirah
+/. - c.3329G>A - r.(?) p.(Arg1110Gln) Pathogenic g.45099748C>T - Yock-Ping Chow et al.(2017) DUOX2_000002 rs368488511 - - Nur Aisyah Athirah
+/. - c.3329G>A - r.(?) p.(Arg1110Gln) Pathogenic g.45099748C>T - Yock-Ping Chow et al.(2017) DUOX2_000002 rs368488511 - - Nur Aisyah Athirah
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