rs121918344
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
Achromatopsia 3
0.800
GeneticVariation
UNIPROT
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
15657609
2005
rs121918344
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
Achromatopsia 3
0.800
GeneticVariation
UNIPROT
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.
14757870
2004
rs121918344
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
Achromatopsia 3
0.800
GeneticVariation
UNIPROT
Genetic basis of total colourblindness among the Pingelapese islanders.
10888875
2000
rs121918344
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
Achromatopsia 3
0.800
GeneticVariation
UNIPROT
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.
15712225
2005
rs121918344
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
Achromatopsia 3
0.800
GeneticVariation
UNIPROT
Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.
10958649
2000
rs121918344
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
Achromatopsia 3
A
0.800
CausalMutation
CLINVAR
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.
28795510
2017
rs121918344
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
Achromatopsia 3
0.800
GeneticVariation
UNIPROT
A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate.
12357335
2002
rs139207764
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
Achromatopsia 3
0.800
GeneticVariation
UNIPROT
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
15657609
2005
rs139207764
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
Achromatopsia 3
0.800
GeneticVariation
UNIPROT
A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate.
12357335
2002
rs139207764
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
Achromatopsia 3
0.800
GeneticVariation
UNIPROT
Genetic basis of total colourblindness among the Pingelapese islanders.
10888875
2000
rs139207764
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
Achromatopsia 3
0.800
GeneticVariation
UNIPROT
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.
14757870
2004
rs139207764
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
Achromatopsia 3
0.800
GeneticVariation
UNIPROT
Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.
10958649
2000
rs139207764
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
Achromatopsia 3
A
0.800
GeneticVariation
CLINVAR
Inherited macular degeneration-associated mutations in CNGB3 increase the ligand sensitivity and spontaneous open probability of cone cyclic nucleotide-gated channels.
26106334
2015
rs139207764
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
Achromatopsia 3
A
0.800
GeneticVariation
CLINVAR
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.
28795510
2017
rs139207764
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
Achromatopsia 3
A
0.800
GeneticVariation
CLINVAR
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
15657609
2005
rs139207764
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
Achromatopsia 3
A
0.800
GeneticVariation
CLINVAR
CNGB3-achromatopsia clinical trial with CNTF: diminished rod pathway responses with no evidence of improvement in cone function.
25205868
2014
rs139207764
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
Achromatopsia 3
0.800
GeneticVariation
UNIPROT
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.
15712225
2005
rs139207764
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
Achromatopsia 3
A
0.800
GeneticVariation
CLINVAR
Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy.
25616768
2015
rs1554612145
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
Achromatopsia 3
0.800
GeneticVariation
UNIPROT
Genetic basis of total colourblindness among the Pingelapese islanders.
10888875
2000
rs1554612145
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
Achromatopsia 3
0.800
GeneticVariation
UNIPROT
A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate.
12357335
2002
rs1554612145
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
Achromatopsia 3
0.800
GeneticVariation
UNIPROT
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.
15712225
2005
rs1554612145
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
Achromatopsia 3
0.800
GeneticVariation
UNIPROT
Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.
10958649
2000
rs1554612145
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
Achromatopsia 3
A
0.800
CausalMutation
CLINVAR
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.
28795510
2017
rs1554612145
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
Achromatopsia 3
0.800
GeneticVariation
UNIPROT
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
15657609
2005
rs1554612145
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
Achromatopsia 3
0.800
GeneticVariation
UNIPROT
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.
14757870
2004