Full data view for 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     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

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Age at death     

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Data_av     

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Panel size     

Owner     
-?/. - c.74A>G r.(?) p.(Asn25Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/? 3 c.505G>A r.(?) p.(Ala169Thr) Both (homozygous) - pathogenic g.10529649G>A g.10529416G>A - - GCNT2_000004 - PubMed: Yu 2003, OMIM:var0004 - - Unknown ? - BstNI- 0 - DNA PCRdig, SEQ - - BG-i - PubMed: Yu 2003 - ? - - Caucasian - - - - 1 Johan den Dunnen
+/? 3 c.505G>A r.(?) p.(Ala169Thr) Both (homozygous) - pathogenic g.10529649G>A g.10529416G>A - - GCNT2_000004 - PubMed: Yu 2003, OMIM:var0004 - - Unknown ? - BstNI- 0 - DNA PCRdig, SEQ - - BG-i - PubMed: Yu 2003 - ? - - Caucasian - - - - 1 Johan den Dunnen
+/? 3 c.505G>A r.(?) p.(Ala169Thr) Both (homozygous) - pathogenic g.10529649G>A g.10529416G>A - - GCNT2_000004 - PubMed: Yu 2003, OMIM:var0004 - - Unknown ? - BstNI- 0 - DNA PCRdig, SEQ - - BG-i - PubMed: Yu 2003 - ? - - Caucasian - - - - 1 Johan den Dunnen
+/? 3 c.505G>A r.(?) p.(Ala169Thr) Both (homozygous) - pathogenic g.10529649G>A g.10529416G>A - - GCNT2_000004 - PubMed: Yu 2003, OMIM:var0004 - - Unknown ? - BstNI- 0 - DNA PCRdig, SEQ - - BG-i - PubMed: Yu 2003 - ? - - Caucasian - - - - 1 Johan den Dunnen
+/? 3 c.505G>A r.(?) p.(Ala169Thr) Both (homozygous) - pathogenic g.10529649G>A g.10529416G>A - - GCNT2_000004 - PubMed: Yu 2003, OMIM:var0004 - - Unknown ? - BstNI- 0 - DNA PCRdig, SEQ - - BG-i - PubMed: Yu 2003 - ? - - Caucasian - - - - 1 Johan den Dunnen
+/? 3 c.505G>A r.(?) p.(Ala169Thr) Parent #1 - pathogenic g.10529649G>A g.10529416G>A - - GCNT2_000004 - PubMed: Yu 2003, OMIM:var0004 - - Unknown ? - BstNI- 0 - DNA PCRdig, SEQ - - BG-i - PubMed: Yu 2003 - ? - - Caucasian - - - - 1 Johan den Dunnen
+/? 3 c.505G>A r.(?) p.(Ala169Thr) Unknown - pathogenic g.10529649G>A g.10529416G>A - - GCNT2_000004 1/102 control chromosomes PubMed: Yu 2003, OMIM:var0004 - - Unknown ? - BstNI- 0 - DNA PCRdig - - Healthy/Control - PubMed: Yu 2003 - ? - - Caucasian - - - - 51 Johan den Dunnen
+/? 3 c.505G>A r.(?) p.Ala169Thr Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/? 4 c.505G>A r.(?) p.(Ala169Thr) Unknown - benign g.10529649G>A g.10529416G>A - - GCNT2_000004 - - - - Unknown - - - 0 - DNA SEQ-NG-I - - CTRCT - - - - - Australia - - 0 - - 1 Ivan Prokudin
?/. - c.652G>A r.(?) p.(Gly218Arg) Unknown - VUS g.10529796G>A - GCNT2(NM_145649.4):c.652G>A (p.G218R) - chr6_007220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 3 c.683G>A r.(?) p.(Arg228Gln) Parent #2 - pathogenic g.10529827G>A g.10529594G>A - - GCNT2_000005 not in 102 control chromosomes PubMed: Yu 2003, OMIM:var0005 - - Unknown ? - - 0 - DNA PCRdig, SEQ - - BG-i - PubMed: Yu 2003 - ? - - Caucasian - - - - 1 Johan den Dunnen
+/? 3 c.683G>A r.(?) p.Arg228Gln Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.699C>T r.(?) p.(His233=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/? 3 c.816C>G r.(?) p.(Asp272Glu) Parent #1 - benign g.10529960C>G g.10529727C>G 816G>C (E272D) - GCNT2_000007 - PubMed: Inaba 2003 - - Germline yes - - 0 - DNA PCR, SEQ - - BG-i, CTRCT-13 - PubMed: Inaba 2003 3-generation family, 3 affecteds, unaffected carrier parents and children - no Japan - - 0 - - 3 Johan den Dunnen
-/? 3 c.816C>G r.(?) p.(Asp272Glu) Parent #1 - benign g.10529960C>G g.10529727C>G 816G>C (E272D) - GCNT2_000007 - PubMed: Inaba 2003 - - Unknown - 2/8 chromosomes - 0 - DNA PCR, SEQ - - - - PubMed: Inaba 2003 controls - - Japan - - 0 - - 4 Johan den Dunnen
-/? 3 c.816C>G r.(?) p.Asp272Glu Unknown - NA g.10529960C>G g.10529727C>G - - GCNT2_000007 expression cloning CHO cells, normal I-antigen expression PubMed: Inaba 2003 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.925+26841C>G r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. - c.925+26917G>A r.(=) p.(=) Parent #1 - 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 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 57 Mohammed Faruq
-?/. - c.925+26983T>C r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.925+27063A>G r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.925+27104A>G r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.925+27139C>A r.(=) p.(=) Unknown - likely pathogenic g.10557208C>A - GCNT2(NM_001491.2):c.552C>A (p.Y184*) - chr6_007221 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.925+27345C>G r.(=) p.(=) Unknown - VUS g.10557414C>G g.10557181C>G - - GCNT2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 3i c.926-35119T>A r.(=) p.(=) Both (homozygous) - 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 - DNA PCR, PCRdig, SEQ - - BG-i - PubMed: Lin 2006 2-generation family, affected parent - - Taiwan - - 0 - - 1 Johan den Dunnen
?/? 3i c.926-35119T>A r.(=) p.(=) Parent #1 - pathogenic g.10586465T>A g.10586232T>A - - GCNT2_000008 - PubMed: Lin 2006 - - Germline - - - 0 - DNA PCRdig - - - - PubMed: Lin 2006 2-generation family, unaffected carrier daugther F - Taiwan - - 0 - - 1 Johan den Dunnen
?/? 3i c.926-35119T>A - p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.926-34827G>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.926-34546C>G r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.926-34546C>G r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.926-34528A>G r.(=) p.(=) Unknown - benign g.10587056A>G g.10586823A>G - - GCNT2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 4 c.983G>A r.(?) p.(Trp328*) Both (homozygous) - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 not in 100 control chromosomes; mapped by linkage analysis PubMed: Pras 2004 - - Germline yes - - 0 - DNA SEQ - - BG-i, CTRCT-13 - PubMed: Pras 2004 6-generation family, 5 affecteds (4F, 1M) - yes Israel Arab - 0 - - 5 Johan den Dunnen
+/? 4 c.983G>A r.(?) p.(Trp328*) Parent #1 - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 - PubMed: Pras 2004 - - Germline yes - - 0 - DNA SEQ - - Healthy/Control - - 6-generation family, 4 unaffected carrier parents - yes Israel Arab - 0 - - 4 Johan den Dunnen
+/? 4 c.983G>A r.(?) p.(Trp328*) Both (homozygous) - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 not in 100 control chromosomes PubMed: Pras 2004 - - Germline yes - - 0 - DNA SEQ - - BG-i, CTRCT-13 - PubMed: Pras 2004 5-generation family, 1 affected M yes Israel - - 0 - - 1 Johan den Dunnen
+/? 4 c.983G>A r.(?) p.(Trp328*) Parent #1 - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 - PubMed: Pras 2004 - - Germline yes - - 0 - DNA SEQ - - Healthy/Control - - 5-generation family, unaffected carrier parents - - Israel Arab - 0 - - 2 Johan den Dunnen
+/? 4 c.983G>A r.(?) p.(Trp328*) Both (homozygous) - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 not in 100 control chromosomes PubMed: Pras 2004 - - Germline yes - - 0 - DNA SEQ - - BG-i, CTRCT-13 - - 3-generation family, 4 affecteds (3F, 1M) - yes Israel Arab - 0 - - 4 Johan den Dunnen
+/? 4 c.983G>A r.(?) p.(Trp328*) Parent #1 - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 - PubMed: Pras 2004 - - Germline yes - - 0 - DNA SEQ - - Healthy/Control - - 3-generation family, 4 unaffected carrier parents - yes Israel - - 0 - - 4 Johan den Dunnen
+/? 4 c.983G>A r.(?) p.(Trp328*) Both (homozygous) - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 not in 100 control chromosomes PubMed: Pras 2004 - - Germline yes - - 0 - DNA SEQ - - BG-i, CTRCT-13 - - 5-generaion family, 3 affecteds (2F, 1M) - yes Israel Arab - 0 - - 3 Johan den Dunnen
+/? 4 c.983G>A r.(?) p.(Trp328*) Parent #1 - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 - PubMed: Pras 2004 - - Germline yes - - 0 - DNA SEQ - - Healthy/Control - - 5-generation family, 6 unaffected carriers - yes Israel Arab - 0 - - 6 Johan den Dunnen
?/? 4 c.1006G>A r.(?) p.(Gly336Arg) Parent #2 - pathogenic g.10621664G>A g.10621431G>A - - GCNT2_000006 - PubMed: Inaba 2003 - - Germline yes - - 0 - DNA PCR, SEQ - - BG-i, CTRCT-13 - PubMed: Inaba 2003 3-generation family, 3 affecteds, unaffected carrier parents and children - no Japan - - 0 - - 3 Johan den Dunnen
?/? 4 c.1006G>A - p.(Gly336Arg) Unknown - NA g.10621664G>A g.10621431G>A - - GCNT2_000006 expression cloning CHO cells, no I-antigen expression PubMed: Inaba 2003 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/? - c.1049G>A r.(?) p.(Gly350Glu) Maternal (confirmed) - pathogenic g.10626680G>A g.10626447G>A 1043G>A (Gly348Glu) - GCNT2_000001 - PubMed: Yu 2001, OMIM:var0001 - rs56141211 Germline yes - - 0 - DNA SEQ - - BG-i, CTRCT-13 - PubMed: Yu 2001 2-generation family, 2 affecteds F no Taiwan - - - - - 1 Johan den Dunnen
?/? - c.1049G>A r.(?) p.(Gly350Glu) Maternal (confirmed) - pathogenic g.10626680G>A g.10626447G>A 1043G>A (Gly348Glu) - GCNT2_000001 - PubMed: Yu 2001, OMIM:var0001 - - Germline yes - - 0 - DNA SEQ - - BG-i, CTRCT-13 - PubMed: Yu 2001 2-generation family, 2 affecteds F no Taiwan - - - - - 1 Johan den Dunnen
?/? - c.1049G>A r.(?) p.(Gly350Glu) Both (homozygous) - pathogenic g.10626680G>A g.10626447G>A 1043G>A (Gly348Glu) - GCNT2_000001 - PubMed: Yu 2001, OMIM:var0001 - - Germline yes - - 0 - DNA, RNA RT-PCR, SEQ - - BG-i, CTRCT-13 - PubMed: Yu 2001 3-generation family, 2 affecteds F no Taiwan - - - - - 1 Johan den Dunnen
?/? - c.1049G>A r.(?) p.(Gly350Glu) Both (homozygous) - pathogenic g.10626680G>A g.10626447G>A 1043G>A (Gly348Glu) - GCNT2_000001 - PubMed: Yu 2001, OMIM:var0001 - - Germline yes - - 0 - DNA SEQ - - BG-i, CTRCT-13 - PubMed: Yu 2001 3-generation family, 2 affecteds M no Taiwan - - - - - 1 Johan den Dunnen
?/? - c.1049G>A r.(?) p.(Gly350Glu) Parent #1 - pathogenic g.10626680G>A g.10626447G>A 1043G>A (Gly348Glu) - GCNT2_000001 - PubMed: Yu 2001, OMIM:var0001 - - Germline yes - - 0 - DNA SSCA - - Healthy/Control - PubMed: Yu 2001 3-generation family, 5 unaffected carriers ? no Taiwan - - - - - 4 Johan den Dunnen
?/? - c.1049G>A r.(?) p.(Gly350Glu) Unknown - pathogenic g.10626680G>A g.10626447G>A 1043G>A (Gly348Glu) - GCNT2_000001 - PubMed: Yu 2001, OMIM:var0001 - - Germline yes - - 0 - DNA SSCA - - Healthy/Control - PubMed: Yu 2001 2-generation family, 2 unaffected carriers (mother, sister) F no Taiwan - - - - - 2 Johan den Dunnen
+/? 5 c.1049G>A r.1049g>a p.Gly350Glu Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/? 5 c.1049G>A r.(?) p.(Gly350Glu) Parent #1 - pathogenic g.10626680G>A g.10626447G>A - - GCNT2_000001 - PubMed: Inaba 2003 - - Germline yes - - 0 - DNA PCR, SEQ - - BG-i, CTRCT-13 - PubMed: Inaba 2003 3-generation family, 3 affecteds, unaffected carrier parents and children - no Japan - - 0 - - 3 Johan den Dunnen
?/? 5 c.1049G>A - p.(Gly350Glu) Unknown - NA g.10626680G>A g.10626447G>A - - GCNT2_000001 expression cloning CHO cells, no I-antigen expression PubMed: Inaba 2003 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1058A>T r.(?) p.(Asp353Val) Unknown - VUS g.10626689A>T g.10626456A>T - - GCNT2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? - c.1154G>A r.(?) p.(Arg385His) Paternal (confirmed) - pathogenic g.10626785G>A g.10626552G>A 1148G>A (Arg383His) - GCNT2_000002 - PubMed: Yu 2001, OMIM:var0002 - - Germline yes - - - - DNA SEQ - - BG-i, CTRCT-13 - PubMed: Yu 2001 2-generation family, 2 affecteds F no Taiwan - - - - - 1 Johan den Dunnen
?/? - c.1154G>A r.(?) p.(Arg385His) Paternal (confirmed) - pathogenic g.10626785G>A g.10626552G>A 1148G>A (Arg383His) - GCNT2_000002 - PubMed: Yu 2001, OMIM:var0002 - - Germline yes - - - - DNA SEQ - - BG-i, CTRCT-13 - PubMed: Yu 2001 2-generation family, 2 affecteds F no Taiwan - - - - - 1 Johan den Dunnen
?/? - c.1154G>A r.(?) p.(Arg385His) Unknown - pathogenic g.10626785G>A g.10626552G>A 1148G>A (Arg383His) - GCNT2_000002 - PubMed: Yu 2001, OMIM:var0002 - - Germline yes - - - - DNA SSCA - - Healthy/Control - PubMed: Yu 2001 1-generation family, unaffected carrier (father) M no Taiwan - - - - - 1 Johan den Dunnen
+/? 5 c.1154G>A r.1154g>a p.Arg385His Unknown - 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 - - - - - - - - - - - - - - - - - - -
Legend