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     
?/? - 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 - - CTRCT13, Ii - 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 - - CTRCT13, Ii - 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 - - CTRCT13, Ii - 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 - - CTRCT13, Ii - 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 - - CTRCT13, Ii - 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 - - - - - - - - - - - - - - - - - - -
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