Unique variants in the NOD2 gene

Information The variants shown are described using the NM_022162.1 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
Legend   How to query  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     
+?/+? 1 2 c.214G>A r.(?) p.(Glu72Lys) g.50733539G>A - NOD2_000001 - Sabine Heber
?/? 1 2 c.271A>G r.(?) p.(Thr91Ala) g.50733596A>G - NOD2_000006 - Florian Bayersdorfer
?/? 1 7 c.2687G>A r.(?) p.(Arg896Gln) g.50753892G>A - NOD2_000007 - Florian Bayersdorfer
+/+ 1 88 c.2722G>C r.(?) p.(Gly908Arg) g.50756540G>C - NOD2_000003 - Florian Bayersdorfer
?/? 1 9 c.2857A>G r.(?) p.(Lys953Glu) g.50757270A>G - NOD2_000002 - Florian Bayersdorfer
+?/+? 1 10 c.2883-2A>G r.spl? p.? g.50759398A>G - NOD2_000004 - Florian Bayersdorfer
?/? 1 11 c.3019dup r.(?) p.(Leu1007Profs*2) g.50763781dup - NOD2_000005 - Florian Bayersdorfer
Legend   How to query