rs104894914
×
Entrez Id:
2652
Gene Symbol:
OPN1MW
OPN1MW
Cone monochromatism
0.810
GeneticVariation
UNIPROT
Gene conversion between red and defective green opsin gene in blue cone monochromacy.
8666378
1995
rs104894914
×
Entrez Id:
2652
Gene Symbol:
OPN1MW
OPN1MW
Deuteranomaly
0.800
GeneticVariation
UNIPROT
Defective colour vision associated with a missense mutation in the human green visual pigment gene.
1302020
1992
rs104894914
×
Entrez Id:
2652
Gene Symbol:
OPN1MW
OPN1MW
Deuteranomaly
0.800
GeneticVariation
UNIPROT
Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies.
12051694
2002
rs104894915
×
Entrez Id:
2652
Gene Symbol:
OPN1MW
OPN1MW
Deuteranomaly
0.800
GeneticVariation
UNIPROT
Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies.
12051694
2002
rs104894915
×
Entrez Id:
2652
Gene Symbol:
OPN1MW
OPN1MW
Deuteranomaly
0.800
GeneticVariation
UNIPROT
Defective colour vision associated with a missense mutation in the human green visual pigment gene.
1302020
1992
rs104894916
×
Entrez Id:
2652
Gene Symbol:
OPN1MW
OPN1MW
Deuteranomaly
0.800
GeneticVariation
UNIPROT
Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies.
12051694
2002
rs104894916
×
Entrez Id:
2652
Gene Symbol:
OPN1MW
OPN1MW
Deuteranomaly
0.800
GeneticVariation
UNIPROT
Defective colour vision associated with a missense mutation in the human green visual pigment gene.
1302020
1992
rs267606927
×
Entrez Id:
2652
Gene Symbol:
OPN1MW
OPN1MW
Cone monochromatism
0.700
GeneticVariation
UNIPROT
X-linked cone dystrophy caused by mutation of the red and green cone opsins.
20579627
2010
rs104894914
×
Entrez Id:
2652
Gene Symbol:
OPN1MW
OPN1MW
Cone monochromatism
C
0.810
CausalMutation
CLINVAR
rs104894914
×
Entrez Id:
2652
Gene Symbol:
OPN1MW
OPN1MW
Deuteranomaly
C
0.800
CausalMutation
CLINVAR
rs104894915
×
Entrez Id:
2652
Gene Symbol:
OPN1MW
OPN1MW
Deuteranomaly
A
0.800
CausalMutation
CLINVAR
rs104894916
×
Entrez Id:
2652
Gene Symbol:
OPN1MW
OPN1MW
Deuteranomaly
A
0.800
CausalMutation
CLINVAR
rs267606927
×
Entrez Id:
2652
Gene Symbol:
OPN1MW
OPN1MW
CONE DYSTROPHY 5, X-LINKED
C
0.700
CausalMutation
CLINVAR
rs724159983
×
Entrez Id:
2652
Gene Symbol:
OPN1MW
OPN1MW
Deuteranomaly
C
0.700
CausalMutation
CLINVAR
rs104894914
×
Entrez Id:
2652
Gene Symbol:
OPN1MW
OPN1MW
Cone monochromatism
0.810
GeneticVariation
BEFREE
In contrast, subjects with the C203R missense mutation presented with congenital blue cone monochromacy , with retinal lamination defects being restricted to the ONL+HFL and the degree of residual cone structure (8% of normal) being consistent with that expected for the S-cone submosaic.
23139274
2012
rs104894914
×
Entrez Id:
2652
Gene Symbol:
OPN1MW
OPN1MW
Nystagmus
0.010
GeneticVariation
BEFREE
Individuals with LCR deletions or p.Cys203Arg mutations were more likely to have nystagmus and poor vision, with disease progression in some p.Cys203Arg patients.
25168334
2014
rs104894914
×
Entrez Id:
2652
Gene Symbol:
OPN1MW
OPN1MW
Low Vision
0.010
GeneticVariation
BEFREE
Individuals with LCR deletions or p.Cys203Arg mutations were more likely to have nystagmus and poor vision , with disease progression in some p.Cys203Arg patients.
25168334
2014