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.

8 entries on 1 page. Showing entries 1 - 8.
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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     
+/? 4 c.983G>A r.(?) p.(Trp328*) Both (homozygous) - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 not in 100 control chromosomes; mapped by linkage analysis PubMed: Pras 2004 - - Germline yes - - 0 - DNA SEQ - - CTRCT13, Ii - PubMed: Pras 2004 6-generation family, 5 affecteds (4F, 1M) - yes Israel Arab - 0 - - 5 Johan den Dunnen
+/? 4 c.983G>A r.(?) p.(Trp328*) Parent #1 - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 - PubMed: Pras 2004 - - Germline yes - - 0 - DNA SEQ - - Healthy/Control - - 6-generation family, 4 unaffected carrier parents - yes Israel Arab - 0 - - 4 Johan den Dunnen
+/? 4 c.983G>A r.(?) p.(Trp328*) Both (homozygous) - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 not in 100 control chromosomes PubMed: Pras 2004 - - Germline yes - - 0 - DNA SEQ - - CTRCT13, Ii - PubMed: Pras 2004 5-generation family, 1 affected M yes Israel - - 0 - - 1 Johan den Dunnen
+/? 4 c.983G>A r.(?) p.(Trp328*) Parent #1 - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 - PubMed: Pras 2004 - - Germline yes - - 0 - DNA SEQ - - Healthy/Control - - 5-generation family, unaffected carrier parents - - Israel Arab - 0 - - 2 Johan den Dunnen
+/? 4 c.983G>A r.(?) p.(Trp328*) Both (homozygous) - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 not in 100 control chromosomes PubMed: Pras 2004 - - Germline yes - - 0 - DNA SEQ - - CTRCT13, Ii - - 3-generation family, 4 affecteds (3F, 1M) - yes Israel Arab - 0 - - 4 Johan den Dunnen
+/? 4 c.983G>A r.(?) p.(Trp328*) Parent #1 - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 - PubMed: Pras 2004 - - Germline yes - - 0 - DNA SEQ - - Healthy/Control - - 3-generation family, 4 unaffected carrier parents - yes Israel - - 0 - - 4 Johan den Dunnen
+/? 4 c.983G>A r.(?) p.(Trp328*) Both (homozygous) - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 not in 100 control chromosomes PubMed: Pras 2004 - - Germline yes - - 0 - DNA SEQ - - CTRCT13, Ii - - 5-generaion family, 3 affecteds (2F, 1M) - yes Israel Arab - 0 - - 3 Johan den Dunnen
+/? 4 c.983G>A r.(?) p.(Trp328*) Parent #1 - pathogenic g.10621641G>A g.10621408G>A - - GCNT2_000009 - PubMed: Pras 2004 - - Germline yes - - 0 - DNA SEQ - - Healthy/Control - - 5-generation family, 6 unaffected carriers - yes Israel Arab - 0 - - 6 Johan den Dunnen
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