Unique 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.

22 entries on 1 page. Showing entries 1 - 22.
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Effect     

Reported     

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     
-?/. 1 - 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
-/?, +/? 9 4, 3 c.505G>A r.(?) p.(Ala169Thr), p.Ala169Thr - benign, pathogenic, NA g.10529649G>A g.10529416G>A - - GCNT2_000004 1/102 control chromosomes, expression cloning COS7-cells, no GlcNAc-transferase enzyme activity PubMed: Yu 2003, OMIM:var0004, PubMed: Yu 2003 - - Unknown, In vitro (cloned) ? - BstNI- - - Ivan Prokudin, Johan den Dunnen
?/. 1 - c.652G>A r.(?) p.(Gly218Arg) - VUS g.10529796G>A - GCNT2(NM_145649.4):c.652G>A (p.G218R) - chr6_007220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 2 3 c.683G>A r.(?) p.(Arg228Gln), p.Arg228Gln - pathogenic, NA g.10529827G>A g.10529594G>A - - GCNT2_000005 not in 102 control chromosomes, expression cloning COS7-cells, no GlcNAc-transferase enzyme activity PubMed: Yu 2003, OMIM:var0005, PubMed: Yu 2003 - - Unknown, In vitro (cloned) ? - - - - Johan den Dunnen
-?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-/? 3 3 c.816C>G r.(?) p.(Asp272Glu), p.Asp272Glu - benign, NA g.10529960C>G g.10529727C>G 816G>C (E272D) - GCNT2_000007 expression cloning CHO cells, normal I-antigen expression PubMed: Inaba 2003 - - Germline, Unknown, In vitro (cloned) yes 2/8 chromosomes - - - Johan den Dunnen
-?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - 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 - - - Mohammed Faruq
-?/. 1 - 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
?/. 1 - 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
-/. 1 - 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
+?/. 1 - c.925+27139C>A r.(=) p.(=) - likely pathogenic g.10557208C>A - GCNT2(NM_001491.2):c.552C>A (p.Y184*) - chr6_007221 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.925+27345C>G r.(=) p.(=) - VUS g.10557414C>G g.10557181C>G - - GCNT2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/? 3 3i c.926-35119T>A r.(=) p.(=) - pathogenic, NA g.10586465T>A g.10586232T>A - - GCNT2_000008 del 2nd allele not excluded; not in 116 control chromosomes, 1 more item PubMed: Lin 2006 - - Unknown, Germline, In vitro (cloned) - - TflI- - - Johan den Dunnen
-/. 1 - 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
-/., -?/. 2 - c.926-34546C>G r.(=) p.(=) - benign, 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 - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-/. 1 - c.926-34528A>G r.(=) p.(=) - benign g.10587056A>G g.10586823A>G - - GCNT2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 8 4 c.983G>A r.(?) p.(Trp328*) - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 not in 100 control chromosomes, not in 100 control chromosomes; mapped by linkage analysis PubMed: Pras 2004 - - Germline yes - - - - Johan den Dunnen
?/? 2 4 c.1006G>A r.(?) p.(Gly336Arg) - pathogenic, NA g.10621664G>A g.10621431G>A - - GCNT2_000006 expression cloning CHO cells, no I-antigen expression PubMed: Inaba 2003 - - Germline, In vitro (cloned) yes - - - - Johan den Dunnen
?/?, +/? 9 5 c.1049G>A r.(?), r.1049g>a p.(Gly350Glu), p.Gly350Glu - pathogenic, NA g.10626680G>A g.10626447G>A 1043G>A (Gly348Glu) - GCNT2_000001 expression cloning COS7-cells, no GlcNAc-transferase enzyme activity, 1 more item PubMed: Yu 2001, OMIM:var0001, PubMed: Yu 2001, PubMed: Yu 2003, PubMed: Inaba 2003 - rs56141211 Germline, In vitro (cloned) yes - - - - Johan den Dunnen
?/. 1 - c.1058A>T r.(?) p.(Asp353Val) - VUS g.10626689A>T g.10626456A>T - - GCNT2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/?, +/? 4 5 c.1154G>A r.(?), r.1154g>a p.(Arg385His), p.Arg385His - pathogenic, NA g.10626785G>A g.10626552G>A 1148G>A (Arg383His) - GCNT2_000002 expression cloning COS7-cells, no GlcNAc-transferase enzyme activity PubMed: Yu 2001, OMIM:var0002, PubMed: Yu 2001, PubMed: Yu 2003 - rs55940927 Germline, In vitro (cloned) yes - - - - Johan den Dunnen
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