All variants in the AGER gene

Information The variants shown are described using the NM_001136.4 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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Effect     

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     
+?/. - c.-443T>C - r.(=) p.(=) - - g.32184665A>G −429T/C Foo Nian Wong et al. (2016), dbSNP AGER_000003 rs1800625 16/102 non-diabetic (ND-CKD) Nuur Athirah Binti Mohd Daud
+/. - c.-443T>C - r.(=) p.(=) - - g.32184665A>G −429T/C Foo Nian Wong et al. (2016), dbSNP AGER_000003 rs1800625 46/204 diabetic (D-CKD) Nuur Athirah Binti Mohd Daud
+/. - c.-443T>C - r.(=) p.(=) - - g.32184665A>G -429T/C Zhi Xiang Ng et al. (2012) AGER_000003 rs796452917 2/171 DR (diabetic retinopathy) Nuur Athirah Binti Mohd Daud
+/. - c.-443T>C - r.(=) p.(=) - - g.32184665A>G −429T/C Zhi Xiang Ng et al. (2012) AGER_000003 rs796452917 47/171 DNR (diabetic non-retinopathy) Nuur Athirah Binti Mohd Daud
+/. - c.-443T>C - r.(=) p.(=) - - g.32184665A>G -429T/C Zhi Xiang Ng et al. (2012) AGER_000003 rs796452917 4/171 DNR (diabetic non-retinopathy) Nuur Athirah Binti Mohd Daud
+/. - c.-443T>C - r.(=) p.(=) - - g.32184665A>G -429T/C Zhi Xiang Ng et al. (2012) AGER_000003 rs796452917 37/171 DR (diabetic retinopathy) Nuur Athirah Binti Mohd Daud
+?/. - c.-388T>A - r.(=) p.(=) - - g.32184610A>T −374T/A Foo Nian Wong et al. (2016), dbSNP AGER_000002 rs1800624 22/102 non-diabetic (ND-CKD) Nuur Athirah Binti Mohd Daud
+/. - c.-388T>A - r.(=) p.(=) - - g.32184610A>T −374T/A Foo Nian Wong et al. (2016), dbSNP AGER_000002 rs1800624 48/204 diabetic (D-CKD) Nuur Athirah Binti Mohd Daud
+/. - c.-388T>A - r.(=) p.(=) - - g.32184610A>T -374T/A Zhi Xiang Ng et al. (2012) AGER_000002 rs886057791 7/171 DR (diabetic retinopathy) Nuur Athirah Binti Mohd Daud
+/. - c.-388T>A - r.(=) p.(=) - - g.32184610A>T -374T/A Zhi Xiang Ng et al. (2012) AGER_000002 rs886057791 54/171 DR (diabetic retinopathy) Nuur Athirah Binti Mohd Daud
+/. - c.-388T>A - r.(=) p.(=) - - g.32184610A>T -374T/A Zhi Xiang Ng et al. (2012) AGER_000002 rs886057791 2/171 DNR (diabetic non-retinopathy) Nuur Athirah Binti Mohd Daud
+/. - c.-388T>A - r.(=) p.(=) - - g.32184610A>T −374T/A Zhi Xiang Ng et al. (2012) AGER_000002 rs886057791 56/171 DNR (diabetic non-retinopathy) Nuur Athirah Binti Mohd Daud
+/. - c.244G>A - r.(?) p.(Gly82Ser) - - g.32183666C>T G82S Foo Nian Wong et al. (2016), dbSNP AGER_000001 rs2070600 51/204 diabetic (D-CKD) Nuur Athirah Binti Mohd Daud
+/. - c.244G>A - r.(?) p.(Gly82Ser) - - g.32183666C>T Gly82Ser Z X Ng et al. (2012), dbSNP AGER_000001 rs2070600 81/98 - Nuur Athirah Binti Mohd Daud
+/. - c.244G>A - r.(?) p.(Gly82Ser) - - g.32183666C>T Gly82Ser Z X Ng et al. (2012), dbSNP AGER_000001 rs2070600 17/98 - Nuur Athirah Binti Mohd Daud
+?/. - c.244G>A - r.(?) p.(Gly82Ser) - - g.32183666C>T G82S Foo Nian Wong et al. (2016), dbSNP AGER_000001 rs2070600 39/102 non-diabetic (ND-CKD) Nuur Athirah Binti Mohd Daud
+/. - c.822+49G>T - r.(=) p.(=) - - g.32182519C>A 1704G/T Foo Nian Wong et al. (2016), dbSNP AGER_000004 rs184003 70/204 diabetic (D-CKD) Nuur Athirah Binti Mohd Daud
+?/. - c.822+49G>T - r.(=) p.(=) - - g.32182519C>A 1704G/T Foo Nian Wong et al. (2016), dbSNP AGER_000004 rs184003 42/102 non-diabetic (ND-CKD) Nuur Athirah Binti Mohd Daud
+/. - c.822+49G>T - r.(=) p.(=) - - g.32182519C>A 1704G/T Z X Ng et al. (2012), dbSNP AGER_000004 rs184003 37/98 - Nuur Athirah Binti Mohd Daud
+/. - c.822+49G>T - r.(=) p.(=) - - g.32182519C>A 1704G/T Z X Ng et al. (2012), dbSNP AGER_000004 rs184003 61/98 - Nuur Athirah Binti Mohd Daud
+/. - c.964+208A>G - r.(=) p.(=) - - g.32182039T>C 2184A/G Foo Nian Wong et al. (2016), dbSNP AGER_000005 rs3134940 46/204 diabetic (D-CKD) Nuur Athirah Binti Mohd Daud
+?/. - c.964+208A>G - r.(=) p.(=) - - g.32182039T>C 2184A/G Foo Nian Wong et al. (2016), dbSNP AGER_000005 rs3134940 16/102 non-diabetic (ND-CKD) Nuur Athirah Binti Mohd Daud
+/. - c.964+208A>G - r.(=) p.(=) - - g.32182039T>C 2184A/G Z X Ng et al. (2012), dbSNP AGER_000005 rs3134940 25/98 - Nuur Athirah Binti Mohd Daud
+/. - c.964+208A>G - r.(=) p.(=) - - g.32182039T>C 2184A/G Z X Ng et al. (2012), dbSNP AGER_000005 rs3134940 73/98 - Nuur Athirah Binti Mohd Daud
+/. - c.*1030G>A - r.(=) p.(=) - - g.32180113C>T 2245G/A Zhi Xiang Ng et al. (2012) AGER_000006 rs150400704 52/171 DR (diabetic retinopathy) Nuur Athirah Binti Mohd Daud
+/. - c.*1030G>A - r.(=) p.(=) - - g.32180113C>T 2245G/A Zhi Xiang Ng et al. (2012) AGER_000006 rs150400704 28/171 DNR (diabetic non-retinopathy) Nuur Athirah Binti Mohd Daud
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