Unique variants in the MSH2 gene

Information The variants shown are described using the NM_000251.2 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     
-?/. 1 1 c.12G>T - r.(?) p.(Gln4His) - ClinVar g.47403203G>T - N.A. Abdul Murad et al. (2012), dbSNP, ClinVar MSH2_000004 rs878853800 76 - MyHVP
+/. 1 1 c.142G>T - r.(?) p.(Glu48*) - ClinVar g.47403333G>T - N.A. Abdul Murad et al. (2012), dbSNP, ClinVar MSH2_000003 rs63750615 76 - MyHVP
+/., -/. 4 - c.211+9C>G - r.(=) p.(=) - benign, ClinVar g.47403411C>G - dbSNP MSH2_000007 rs2303426 - - Nur Aisyah Athirah
+/. 3 - c.211+98T>C - r.(=) p.(=) - benign g.47403500T>C - dbSNP MSH2_000006 rs3815865 - - Nur Aisyah Athirah
+/. 1 - c.367-86A>C - r.(=) p.(=) - - g.47410008A>C - - MSH2_000008 - - - Nur Aisyah Athirah
+/. 1 3 c.382C>G - r.(?) p.(Leu128Val) - ClinVar g.47410109C>G - - MSH2_000009 rs145649774 - - Nur Aisyah Athirah
?/. 1 3 c.401T>C - r.(?) p.(Ile134Thr) - - g.47410128T>C - N.A. Abdul Murad et al. (2012) MSH2_000005 rs770368711 76 - MyHVP
?/. 1 12 c.2005G>C - r.(?) p.(Gly669Arg) - ClinVar g.47475270G>C - MN Zahary et al.(2012)dbSNP MSH2_000001 rs63751668 34 - MyHVP
-/. 1 12i c.2006-6T>C - r.(=) p.(=) - ClinVar g.47476361T>C - MN Zahary et al.(2012)dbSNP MSH2_000002 rs2303428 34 - MyHVP
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