Full data view for gene GNAT1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_144499.2 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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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     
?/. 2 c.113G>A r.(?) p.(Gly38Asp) Unknown - VUS g.50230572G>A - - - GNAT1_000007 - PubMed: Zeitz-2009 - - Germline - - - - - DNA arraySEQ - - retinal disease - PubMed: Zeitz-2009 - - - - - - - - - 1 LOVD
+?/. 6 c.113G>A r.(?) p.(Gly38Asp) Paternal (confirmed) - likely pathogenic (dominant) g.50230572G>A g.50193139G>A GNAT1 Gly38Asp - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Dryja 1996 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease XI:1 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1724 M - France - - - - - 1 LOVD
+?/. 6 c.113G>A r.(?) p.(Gly38Asp) Paternal (confirmed) - likely pathogenic (dominant) g.50230572G>A g.50193139G>A GNAT1 Gly38Asp - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Dryja 1996 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease XI:4 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1725 M - France - - - - - 1 LOVD
+?/. 6 c.113G>A r.(?) p.(Gly38Asp) Paternal (confirmed) - likely pathogenic (dominant) g.50230572G>A g.50193139G>A GNAT1 Gly38Asp - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Dryja 1996 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease XI:6 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1726 F - France - - - - - 1 LOVD
+?/. 6 c.113G>A r.(?) p.(Gly38Asp) Maternal (inferred) - likely pathogenic (dominant) g.50230572G>A g.50193139G>A GNAT1 Gly38Asp - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Dryja 1996 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease XI:8 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1727 M - France - - - - - 1 LOVD
+?/. 6 c.113G>A r.(?) p.(Gly38Asp) Paternal (confirmed) - likely pathogenic (dominant) g.50230572G>A g.50193139G>A GNAT1 Gly38Asp - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Dryja 1996 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease XI:13 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1728 M - France - - - - - 1 LOVD
+?/. 6 c.113G>A r.(?) p.(Gly38Asp) Maternal (confirmed) - likely pathogenic (dominant) g.50230572G>A g.50193139G>A GNAT1 Gly38Asp - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Dryja 1996 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease XII:1 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1729 F - France - - - - - 1 LOVD
+?/. 6 c.113G>A r.(?) p.(Gly38Asp) Paternal (confirmed) - likely pathogenic (dominant) g.50230572G>A g.50193139G>A GNAT1 Gly38Asp - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Dryja 1996 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease XII:12 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1730 M - France - - - - - 1 LOVD
+?/. 6 c.113G>A r.(?) p.(Gly38Asp) Paternal (confirmed) - likely pathogenic (dominant) g.50230572G>A g.50193139G>A GNAT1 Gly38Asp - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Dryja 1996 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease XII:14 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1731 M - France - - - - - 1 LOVD
+?/. 6 c.113G>A r.(?) p.(Gly38Asp) Paternal (inferred) - likely pathogenic (dominant) g.50230572G>A g.50193139G>A GNAT1 Gly38Asp - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Dryja 1996 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease IX:12 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1719 F - France - - - - - 1 LOVD
+?/. 6 c.113G>A r.(?) p.(Gly38Asp) Paternal (inferred) - likely pathogenic (dominant) g.50230572G>A g.50193139G>A GNAT1 Gly38Asp - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Dryja 1996 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease X:2 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1720 M - France - - - - - 1 LOVD
+?/. 6 c.113G>A r.(?) p.(Gly38Asp) Maternal (inferred) - likely pathogenic (dominant) g.50230572G>A g.50193139G>A GNAT1 Gly38Asp - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Dryja 1996 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease X:6 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1721 M - France - - - - - 1 LOVD
+?/. 6 c.113G>A r.(?) p.(Gly38Asp) Maternal (confirmed) - likely pathogenic (dominant) g.50230572G>A g.50193139G>A GNAT1 Gly38Asp - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Dryja 1996 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease X:8 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1722 M - France - - - - - 1 LOVD
+?/. 6 c.113G>A r.(?) p.(Gly38Asp) Paternal (inferred) - likely pathogenic (dominant) g.50230572G>A g.50193139G>A GNAT1 Gly38Asp - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases PubMed: Dryja 1996 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease X:12 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1723 M - France - - - - - 1 LOVD
+/. - c.113G>A r.(?) p.(Gly38Asp) Maternal (confirmed) - pathogenic g.50230572G>A g.50193139G>A GNAT1 p.G38D - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein and databases PubMed: Hayashi 2020 - - Germline yes - - - - DNA SEQ - - retinal disease I-2 PubMed: Hayashi 2020 proband's maternal aunt; I:3 on the pedigree F - Japan Japanese - - - - 1 LOVD
+/. - c.113G>A r.(?) p.(Gly38Asp) Maternal (confirmed) - pathogenic g.50230572G>A g.50193139G>A GNAT1 p.G38D - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein and databases PubMed: Hayashi 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ - whole exome sequencing retinal disease II-2 PubMed: Hayashi 2020 proband F - Japan Japanese - - - - 1 LOVD
+/. - c.113G>A r.(?) p.(Gly38Asp) Maternal (confirmed) - pathogenic g.50230572G>A g.50193139G>A GNAT1 p.G38D - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein and databases PubMed: Hayashi 2020 - - Germline yes - - - - DNA SEQ - - retinal disease II-3 PubMed: Hayashi 2020 proband's sister F - Japan Japanese - - - - 1 LOVD
+/. - c.113G>A r.(?) p.(Gly38Asp) Maternal (confirmed) - pathogenic g.50230572G>A g.50193139G>A GNAT1 p.G38D - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein and databases PubMed: Hayashi 2020 - - Germline yes - - - - DNA SEQ - - retinal disease II-4 PubMed: Hayashi 2020 proband's maternal aunt's daughter 1, also had an affected sister (untested) F - Japan Japanese - - - - 1 LOVD
+/. - c.113G>A r.(?) p.(Gly38Asp) Maternal (confirmed) - pathogenic g.50230572G>A g.50193139G>A GNAT1 p.G38D - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein and databases PubMed: Hayashi 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ - whole exome sequencing retinal disease III-1 PubMed: Hayashi 2020 proband's daughter F - Japan Japanese - - - - 1 LOVD
+/. - c.113G>A r.(?) p.(Gly38Asp) Unknown - pathogenic g.50230572G>A g.50193139G>A GNAT1 p.G38D - GNAT1_000007 heterozygous; no nucleotide annotation, extrapolated from protein and databases PubMed: Hayashi 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ - whole exome sequencing retinal disease III-2 PubMed: Hayashi 2020 proband's son M - Japan Japanese - - - - 1 LOVD
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