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.

3 entries on 1 page. Showing entries 1 - 3.
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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     
?/? 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 - - Ii - 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 - - - - - - - - - - - - - - - - - - -
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