All variants in the NOD2 gene

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

4 entries on 1 page. Showing entries 1 - 4.
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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     
+/. 4 c.1000C>T - r.(?) p.(Arg334Trp) Pathogenic g.50710911C>T - Kin Fon Leong et al.(2019) NOD2_000002 rs104895462 - - Nur Aisyah Athirah
+/. 4 c.1001G>A - r.(?) p.(Arg334Gln) Pathogenic g.50710912G>A - Anna Mensa-Vilaro et al.(2016) NOD2_000001 rs104895461 - - Nur Aisyah Athirah
+/. 4 c.1001G>A - r.(?) p.(Arg334Gln) Pathogenic g.50710912G>A - Anna Mensa-Vilaro et al.(2016) NOD2_000001 rs104895461 - - Nur Aisyah Athirah
+/. 4 c.1001G>A - r.(?) p.(Arg334Gln) Pathogenic g.50710912G>A - Anna Mensa-Vilaro et al.(2016) NOD2_000001 rs104895461 - - Nur Aisyah Athirah
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