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     
-/? 3 c.816C>G r.(?) p.(Asp272Glu) Parent #1 - benign g.10529960C>G g.10529727C>G 816G>C (E272D) - GCNT2_000007 - 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
-/? 3 c.816C>G r.(?) p.(Asp272Glu) Parent #1 - benign g.10529960C>G g.10529727C>G 816G>C (E272D) - GCNT2_000007 - PubMed: Inaba 2003 - - Unknown - 2/8 chromosomes - 0 - DNA PCR, SEQ - - - - PubMed: Inaba 2003 controls - - Japan - - 0 - - 4 Johan den Dunnen
-/? 3 c.816C>G r.(?) p.Asp272Glu Unknown - NA g.10529960C>G g.10529727C>G - - GCNT2_000007 expression cloning CHO cells, normal I-antigen expression PubMed: Inaba 2003 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
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