All variants in the GCNT2 gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/? 4 c.983G>A r.(?) p.(Trp328*) - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 not in 100 control chromosomes; mapped by linkage analysis PubMed: Pras 2004 - - Germline yes - - 0 - Johan den Dunnen
+/? 4 c.983G>A r.(?) p.(Trp328*) - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 - PubMed: Pras 2004 - - Germline yes - - 0 - Johan den Dunnen
+/? 4 c.983G>A r.(?) p.(Trp328*) - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 not in 100 control chromosomes PubMed: Pras 2004 - - Germline yes - - 0 - Johan den Dunnen
+/? 4 c.983G>A r.(?) p.(Trp328*) - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 - PubMed: Pras 2004 - - Germline yes - - 0 - Johan den Dunnen
+/? 4 c.983G>A r.(?) p.(Trp328*) - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 not in 100 control chromosomes PubMed: Pras 2004 - - Germline yes - - 0 - Johan den Dunnen
+/? 4 c.983G>A r.(?) p.(Trp328*) - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 - PubMed: Pras 2004 - - Germline yes - - 0 - Johan den Dunnen
+/? 4 c.983G>A r.(?) p.(Trp328*) - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 not in 100 control chromosomes PubMed: Pras 2004 - - Germline yes - - 0 - Johan den Dunnen
+/? 4 c.983G>A r.(?) p.(Trp328*) - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 - PubMed: Pras 2004 - - Germline yes - - 0 - Johan den Dunnen
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