rs104893740
×
Entrez Id:
2779
Gene Symbol:
GNAT1
GNAT1
Night Blindness, Congenital Stationary, Autosomal Dominant 3
A
0.800
CausalMutation
CLINVAR
rs104893740
×
Entrez Id:
2779
Gene Symbol:
GNAT1
GNAT1
Night Blindness, Congenital Stationary, Autosomal Dominant 3
0.800
GeneticVariation
UNIPROT
p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness.
17584859
2007
rs104893740
×
Entrez Id:
2779
Gene Symbol:
GNAT1
GNAT1
Night Blindness, Congenital Stationary, Autosomal Dominant 3
0.800
GeneticVariation
UNIPROT
Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness.
8673138
1996
rs104893740
×
Entrez Id:
2779
Gene Symbol:
GNAT1
GNAT1
Night blindness, congenital stationary
0.010
GeneticVariation
BEFREE
While the RHO and PDE6B mutations result in constitutively active proteins, the only known adCSNB -associated GNAT1 change (p.Gly38Asp ) produces an alpha-transducin that is unable to activate its downstream effector molecule in vitro.
17584859
2007
rs11716820
×
Entrez Id:
2779
Gene Symbol:
GNAT1
GNAT1
Intelligence
T
0.700
GeneticVariation
GWASCAT
Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.
29844566
2018
rs786205853
×
Entrez Id:
2779
Gene Symbol:
GNAT1
GNAT1
Night Blindness, Congenital Stationary, Autosomal Dominant 3
0.800
GeneticVariation
UNIPROT
rs786205853
×
Entrez Id:
2779
Gene Symbol:
GNAT1
GNAT1
Night Blindness, Congenital Stationary, Autosomal Dominant 3
G
0.800
CausalMutation
CLINVAR
rs786205853
×
Entrez Id:
2779
Gene Symbol:
GNAT1
GNAT1
Night blindness, congenital stationary
0.010
GeneticVariation
BEFREE
In a multigeneration Danish family with adCSNB , we identified a novel heterozygous C to G transversion (c.598C>G ) in exon 6 of GNAT1 that should result in a p.Gln200Glu substitution in the evolutionarily highly conserved Switch 2 region of alpha-transducin, a domain that has an important role in binding and hydrolyzing GTP.
17584859
2007
rs786205854
×
Entrez Id:
2779
Gene Symbol:
GNAT1
GNAT1
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G
G
0.800
CausalMutation
CLINVAR
rs786205854
×
Entrez Id:
2779
Gene Symbol:
GNAT1
GNAT1
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G
0.800
GeneticVariation
UNIPROT
rs9858059
×
Entrez Id:
2779
Gene Symbol:
GNAT1
GNAT1
Intelligence
T
0.700
GeneticVariation
GWASCAT
Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.
29942086
2018