All transcript variants in gene GCNT2

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the transcript reference sequence.

55 entries on 1 page. Showing entries 1 - 55.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. - c.74A>G r.(?) p.(Asn25Ser) - likely benign g.10529218A>G g.10528985A>G GCNT2(NM_145649.4):c.74A>G (p.N25S) - GCNT2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 3 c.505G>A r.(?) p.(Ala169Thr) - pathogenic g.10529649G>A g.10529416G>A - - GCNT2_000004 - PubMed: Yu 2003, OMIM:var0004 - - Unknown ? - BstNI- 0 - Johan den Dunnen
+/? 3 c.505G>A r.(?) p.(Ala169Thr) - pathogenic g.10529649G>A g.10529416G>A - - GCNT2_000004 - PubMed: Yu 2003, OMIM:var0004 - - Unknown ? - BstNI- 0 - Johan den Dunnen
+/? 3 c.505G>A r.(?) p.(Ala169Thr) - pathogenic g.10529649G>A g.10529416G>A - - GCNT2_000004 - PubMed: Yu 2003, OMIM:var0004 - - Unknown ? - BstNI- 0 - Johan den Dunnen
+/? 3 c.505G>A r.(?) p.(Ala169Thr) - pathogenic g.10529649G>A g.10529416G>A - - GCNT2_000004 - PubMed: Yu 2003, OMIM:var0004 - - Unknown ? - BstNI- 0 - Johan den Dunnen
+/? 3 c.505G>A r.(?) p.(Ala169Thr) - pathogenic g.10529649G>A g.10529416G>A - - GCNT2_000004 - PubMed: Yu 2003, OMIM:var0004 - - Unknown ? - BstNI- 0 - Johan den Dunnen
+/? 3 c.505G>A r.(?) p.(Ala169Thr) - pathogenic g.10529649G>A g.10529416G>A - - GCNT2_000004 - PubMed: Yu 2003, OMIM:var0004 - - Unknown ? - BstNI- 0 - Johan den Dunnen
+/? 3 c.505G>A r.(?) p.(Ala169Thr) - pathogenic g.10529649G>A g.10529416G>A - - GCNT2_000004 1/102 control chromosomes PubMed: Yu 2003, OMIM:var0004 - - Unknown ? - BstNI- 0 - Johan den Dunnen
+/? 3 c.505G>A r.(?) p.Ala169Thr - NA g.10529649G>A g.10529416G>A - - GCNT2_000004 expression cloning COS7-cells, no GlcNAc-transferase enzyme activity PubMed: Yu 2003 - - In vitro (cloned) - - - 0 - Johan den Dunnen
-/? 4 c.505G>A r.(?) p.(Ala169Thr) - benign g.10529649G>A g.10529416G>A - - GCNT2_000004 - - - - Unknown - - - 0 - Ivan Prokudin
?/. - c.652G>A r.(?) p.(Gly218Arg) - VUS g.10529796G>A - GCNT2(NM_145649.4):c.652G>A (p.G218R) - GCNT2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 3 c.683G>A r.(?) p.(Arg228Gln) - pathogenic g.10529827G>A g.10529594G>A - - GCNT2_000005 not in 102 control chromosomes PubMed: Yu 2003, OMIM:var0005 - - Unknown ? - - 0 - Johan den Dunnen
+/? 3 c.683G>A r.(?) p.Arg228Gln - NA g.10529827G>A g.10529594G>A - - GCNT2_000005 expression cloning COS7-cells, no GlcNAc-transferase enzyme activity PubMed: Yu 2003 - - In vitro (cloned) - - - 0 - Johan den Dunnen
-?/. - c.699C>T r.(?) p.(His233=) - likely benign g.10529843C>T g.10529610C>T GCNT2(NM_145649.4):c.699C>T (p.H233=) - GCNT2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/? 3 c.816C>G r.(?) p.(Asp272Glu) - benign g.10529960C>G g.10529727C>G 816G>C (E272D) - GCNT2_000007 - PubMed: Inaba 2003 - - Germline yes - - 0 - Johan den Dunnen
-/? 3 c.816C>G r.(?) p.(Asp272Glu) - benign g.10529960C>G g.10529727C>G 816G>C (E272D) - GCNT2_000007 - PubMed: Inaba 2003 - - Unknown - 2/8 chromosomes - 0 - Johan den Dunnen
-/? 3 c.816C>G r.(?) p.Asp272Glu - NA g.10529960C>G g.10529727C>G - - GCNT2_000007 expression cloning CHO cells, normal I-antigen expression PubMed: Inaba 2003 - - In vitro (cloned) - - - 0 - Johan den Dunnen
-?/. - c.925+26841C>G r.(=) p.(=) - likely benign g.10556910C>G g.10556677C>G GCNT2(NM_001491.2):c.254C>G (p.P85R) - GCNT2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.925+26917G>A r.(=) p.(=) - VUS g.10556986G>A g.10556753G>A - - GCNT2_000022 conflicting interpretations of pathogenicity; 57 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs35537333 Germline - 57/2795 individuals - 0 - Mohammed Faruq
-?/. - c.925+26983T>C r.(=) p.(=) - likely benign g.10557052T>C g.10556819T>C GCNT2(NM_001491.2):c.396T>C (p.T132=) - GCNT2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.925+27063A>G r.(=) p.(=) - VUS g.10557132A>G g.10556899A>G GCNT2(NM_001491.2):c.476A>G (p.Y159C) - GCNT2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.925+27104A>G r.(=) p.(=) - benign g.10557173A>G g.10556940A>G GCNT2(NM_001491.2):c.517A>G (p.R173G) - GCNT2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.925+27139C>A r.(=) p.(=) - likely pathogenic g.10557208C>A - GCNT2(NM_001491.2):c.552C>A (p.Y184*) - GCNT2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.925+27345C>G r.(=) p.(=) - VUS g.10557414C>G g.10557181C>G - - GCNT2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/? 3i c.926-35119T>A r.(=) p.(=) - pathogenic g.10586465T>A g.10586232T>A - - GCNT2_000008 del 2nd allele not excluded; not in 116 control chromosomes PubMed: Lin 2006 - - Unknown - - TflI- 0 - Johan den Dunnen
?/? 3i c.926-35119T>A r.(=) p.(=) - pathogenic g.10586465T>A g.10586232T>A - - GCNT2_000008 - PubMed: Lin 2006 - - Germline - - - 0 - Johan den Dunnen
?/? 3i c.926-35119T>A - p.(=) - NA g.10586465T>A g.10586232T>A - - GCNT2_000008 expression cloning COS-7 cells, only residual GlcNAc-transferring activity PubMed: Lin 2006 - - In vitro (cloned) - - - 0 - Johan den Dunnen
-/. - c.926-34827G>A r.(=) p.(=) - benign g.10586757G>A g.10586524G>A GCNT2(NM_145655.3):c.535G>A (p.A179T) - GCNT2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.926-34546C>G r.(=) p.(=) - benign g.10587038C>G g.10586805C>G GCNT2(NM_145655.3):c.816C>G (p.D272E) - GCNT2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.926-34546C>G r.(=) p.(=) - likely benign g.10587038C>G g.10586805C>G GCNT2(NM_145655.3):c.816C>G (p.D272E) - GCNT2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.926-34528A>G r.(=) p.(=) - benign g.10587056A>G g.10586823A>G - - GCNT2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/? 4 c.983G>A r.(?) p.(Trp328*) - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 not in 100 control chromosomes; mapped by linkage analysis PubMed: Pras 2004 - - Germline yes - - 0 - Johan den Dunnen
+/? 4 c.983G>A r.(?) p.(Trp328*) - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 - PubMed: Pras 2004 - - Germline yes - - 0 - Johan den Dunnen
+/? 4 c.983G>A r.(?) p.(Trp328*) - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 not in 100 control chromosomes PubMed: Pras 2004 - - Germline yes - - 0 - Johan den Dunnen
+/? 4 c.983G>A r.(?) p.(Trp328*) - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 - PubMed: Pras 2004 - - Germline yes - - 0 - Johan den Dunnen
+/? 4 c.983G>A r.(?) p.(Trp328*) - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 not in 100 control chromosomes PubMed: Pras 2004 - - Germline yes - - 0 - Johan den Dunnen
+/? 4 c.983G>A r.(?) p.(Trp328*) - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 - PubMed: Pras 2004 - - Germline yes - - 0 - Johan den Dunnen
+/? 4 c.983G>A r.(?) p.(Trp328*) - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 not in 100 control chromosomes PubMed: Pras 2004 - - Germline yes - - 0 - Johan den Dunnen
+/? 4 c.983G>A r.(?) p.(Trp328*) - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 - PubMed: Pras 2004 - - Germline yes - - 0 - Johan den Dunnen
?/? 4 c.1006G>A r.(?) p.(Gly336Arg) - pathogenic g.10621664G>A g.10621431G>A - - GCNT2_000006 - PubMed: Inaba 2003 - - Germline yes - - 0 - Johan den Dunnen
?/? 4 c.1006G>A - p.(Gly336Arg) - NA g.10621664G>A g.10621431G>A - - GCNT2_000006 expression cloning CHO cells, no I-antigen expression PubMed: Inaba 2003 - - In vitro (cloned) - - - 0 - Johan den Dunnen
?/? - c.1049G>A r.(?) p.(Gly350Glu) - pathogenic g.10626680G>A g.10626447G>A 1043G>A (Gly348Glu) - GCNT2_000001 - PubMed: Yu 2001, OMIM:var0001 - rs56141211 Germline yes - - 0 - Johan den Dunnen
?/? - c.1049G>A r.(?) p.(Gly350Glu) - pathogenic g.10626680G>A g.10626447G>A 1043G>A (Gly348Glu) - GCNT2_000001 - PubMed: Yu 2001, OMIM:var0001 - - Germline yes - - 0 - Johan den Dunnen
?/? - c.1049G>A r.(?) p.(Gly350Glu) - pathogenic g.10626680G>A g.10626447G>A 1043G>A (Gly348Glu) - GCNT2_000001 - PubMed: Yu 2001, OMIM:var0001 - - Germline yes - - 0 - Johan den Dunnen
?/? - c.1049G>A r.(?) p.(Gly350Glu) - pathogenic g.10626680G>A g.10626447G>A 1043G>A (Gly348Glu) - GCNT2_000001 - PubMed: Yu 2001, OMIM:var0001 - - Germline yes - - 0 - Johan den Dunnen
?/? - c.1049G>A r.(?) p.(Gly350Glu) - pathogenic g.10626680G>A g.10626447G>A 1043G>A (Gly348Glu) - GCNT2_000001 - PubMed: Yu 2001, OMIM:var0001 - - Germline yes - - 0 - Johan den Dunnen
?/? - c.1049G>A r.(?) p.(Gly350Glu) - pathogenic g.10626680G>A g.10626447G>A 1043G>A (Gly348Glu) - GCNT2_000001 - PubMed: Yu 2001, OMIM:var0001 - - Germline yes - - 0 - Johan den Dunnen
+/? 5 c.1049G>A r.1049g>a p.Gly350Glu - NA g.10626680G>A g.10626447G>A - - GCNT2_000001 expression cloning COS7-cells, no GlcNAc-transferase enzyme activity PubMed: Yu 2001, PubMed: Yu 2003 - - In vitro (cloned) - - - 0 - Johan den Dunnen
?/? 5 c.1049G>A r.(?) p.(Gly350Glu) - pathogenic g.10626680G>A g.10626447G>A - - GCNT2_000001 - PubMed: Inaba 2003 - - Germline yes - - 0 - Johan den Dunnen
?/? 5 c.1049G>A - p.(Gly350Glu) - NA g.10626680G>A g.10626447G>A - - GCNT2_000001 expression cloning CHO cells, no I-antigen expression PubMed: Inaba 2003 - - In vitro (cloned) - - - 0 - Johan den Dunnen
?/. - c.1058A>T r.(?) p.(Asp353Val) - VUS g.10626689A>T g.10626456A>T - - GCNT2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/? - c.1154G>A r.(?) p.(Arg385His) - pathogenic g.10626785G>A g.10626552G>A 1148G>A (Arg383His) - GCNT2_000002 - PubMed: Yu 2001, OMIM:var0002 - - Germline yes - - - - Johan den Dunnen
?/? - c.1154G>A r.(?) p.(Arg385His) - pathogenic g.10626785G>A g.10626552G>A 1148G>A (Arg383His) - GCNT2_000002 - PubMed: Yu 2001, OMIM:var0002 - - Germline yes - - - - Johan den Dunnen
?/? - c.1154G>A r.(?) p.(Arg385His) - pathogenic g.10626785G>A g.10626552G>A 1148G>A (Arg383His) - GCNT2_000002 - PubMed: Yu 2001, OMIM:var0002 - - Germline yes - - - - Johan den Dunnen
+/? 5 c.1154G>A r.1154g>a p.Arg385His - NA g.10626785G>A g.10626552G>A - - GCNT2_000002 expression cloning COS7-cells, no GlcNAc-transferase enzyme activity PubMed: Yu 2001, PubMed: Yu 2003 - rs55940927 In vitro (cloned) - - - 0 - Johan den Dunnen
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