All variants in the GLDC gene

Information The variants shown are described using the NM_000170.2 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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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     
+/. 4 c.605C>T - r.(?) p.(Ala202Val) - ClinVar g.6610222G>A - Nor Azimah Abdul Azize et al. (2014), dbSNP, ClinVar GLDC_000004 rs386833583 1/3 - Nuur Athirah Binti Mohd Daud
+/. 5 c.673T>C - r.(?) p.(Cys225Arg) - - g.6606632A>G - Nor Azimah Abdul Azize et al. (2014) GLDC_000003 rs397508780 1/3 - Nuur Athirah Binti Mohd Daud
-/. 7 c.883G>T - r.(?) p.(Asp295Tyr) - - g.6604763C>A - Nor Azimah Abdul Azize et al. (2014) , dbSNP GLDC_000009 rs75123867 1 - Nuur Athirah Binti Mohd Daud
+/. 8 c.1114A>T - r.(?) p.(Ile372Phe) - - g.6602150T>A - Nor Azimah Abdul Azize et al. (2014) GLDC_000002 rs62517163 1/3 - Nuur Athirah Binti Mohd Daud
+/. 8 c.1114A>T - r.(?) p.(Ile372Phe) - - g.6602150T>A - Nor Azimah Abdul Azize et al. (2014) GLDC_000002 - 1/3 - Nuur Athirah Binti Mohd Daud
+/. 12 c.1525C>G - r.(?) p.(Pro509Ala) - ClinVar g.6589250G>C - Nor Azimah Abdul Azize et al. (2014), dbSNP, ClinVar GLDC_000006 rs557412758 1/3 - Nuur Athirah Binti Mohd Daud
+/. 13 c.1607G>A - r.(?) p.(Arg536Gln) - - g.6588676C>T - Nor Azimah Abdul Azize et al. (2014) GLDC_000010 rs369977771 1 - Nuur Athirah Binti Mohd Daud
+/. 14 c.1674C>A - r.(?) p.(Cys558*) - - g.6588434G>T - Nor Azimah Abdul Azize et al. (2014) GLDC_000001 rs905672088 1/3 - Nuur Athirah Binti Mohd Daud
+/. 15 c.1789G>A - r.(?) p.(Glu597Lys) - - g.6587202C>T - Nor Azimah Abdul Azize et al. (2014) GLDC_000007 - 1/3 - Nuur Athirah Binti Mohd Daud
+/. 17 c.1952A>G - r.(?) p.(His651Arg) - ClinVar g.6558659T>C - Nor Azimah Abdul Azize et al. (2014), dbSNP, ClinVar GLDC_000008 rs386833536 1/2 - Nuur Athirah Binti Mohd Daud
+/. 17 c.1952A>G - r.(?) p.(His651Arg) - ClinVar g.6558659T>C - Nor Azimah Abdul Azize et al. (2014), dbSNP, ClinVar GLDC_000008 rs386833536 1 - Nuur Athirah Binti Mohd Daud
+/. 19 c.2280C>G - r.(?) p.(His760Gln) - - g.6554704G>C - Nor Azimah Abdul Azize et al. (2014) GLDC_000005 - 1/3 - Nuur Athirah Binti Mohd Daud
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