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.

9 entries on 1 page. Showing entries 1 - 9.
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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     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/? 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 - - Ii - PubMed: Yu 2003 - ? - - white - - - - 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 - - Ii - PubMed: Yu 2003 - ? - - white - - - - 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 - - Ii - PubMed: Yu 2003 - ? - - white - - - - 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 - - Ii - PubMed: Yu 2003 - ? - - white - - - - 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 - - Ii - PubMed: Yu 2003 - ? - - white - - - - 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 - - Ii - PubMed: Yu 2003 - ? - - white - - - - 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 - ? - - white - - - - 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
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