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.

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

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.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 - - CTRCT13, Ii - 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 - - CTRCT13, Ii - 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   How to query