Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Glaucoma 1A, primary open angle

OMIM:137750
Mode of inheritance:Autosomal dominant
Disease classification:Diseases of the eye and adnexa


Mutations

Gene SymbolMYOC
Reference transcriptNM_000261.1
DNA Changec.1130C>T
A.A. Changep.Thr377Met
Exon/Intronexon 3
Mutation Typesubstitution
ReferenceMelki R, Idhajji A, Driouiche S, Hassani M, Boukabboucha A, Akhayat O, Garchon H, Belmouden A.Mutational analysis of the Myocilin gene in patients with primary open-angle glaucoma in Morocco.
Ophthalmic Genet. 2003 Sep;24(3):153-60.

Polymorphisms

Gene symbolMYOC
Reference transcriptNM_000261.1
DNA Changec.39T>G
A.A. Changep.Pro13Pro
Exon/Intronexon 1
Variation Typesubstitution
Cases57 POAG
Controls60 Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
P6 (10.5%)1 (1.7%)
ReferenceMelki R, Idhajji A, Driouiche S, Hassani M, Boukabboucha A, Akhayat O, Garchon H, Belmouden A.Mutational analysis of the Myocilin gene in patients with primary open-angle glaucoma in Morocco.
Ophthalmic Genet. 2003 Sep;24(3):153-60.
Gene symbolMYOC
Reference transcriptNM_000261.1
DNA Changec.477A>G
A.A. Changep.Leu159Leu
Exon/Intronexon 1
Variation Typesubstitution
Cases57 POAG
Controls60 Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
L01 (1.7%)
ReferenceMelki R, Idhajji A, Driouiche S, Hassani M, Boukabboucha A, Akhayat O, Garchon H, Belmouden A.Mutational analysis of the Myocilin gene in patients with primary open-angle glaucoma in Morocco.
Ophthalmic Genet. 2003 Sep;24(3):153-60.
Gene symbolMYOC
Reference transcriptNM_000261.1
DNA Changec.227G>A
A.A. Changep.Arg76Lys
Exon/Intronexon 1
Variation Typesubstitution
Cases57 POAG
Controls60 Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
K7 (12.3%)4 (6.7%)
ReferenceMelki R, Idhajji A, Driouiche S, Hassani M, Boukabboucha A, Akhayat O, Garchon H, Belmouden A.Mutational analysis of the Myocilin gene in patients with primary open-angle glaucoma in Morocco.
Ophthalmic Genet. 2003 Sep;24(3):153-60.
Gene symbolMYOC
Reference transcriptNM_000261.1
DNA Changec.245G>A
A.A. Changep.Arg82His
Exon/Intronexon 1
Variation Typesubstitution
Cases57 POAG
Controls60 Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
H01 (1.7%)
ReferenceMelki R, Idhajji A, Driouiche S, Hassani M, Boukabboucha A, Akhayat O, Garchon H, Belmouden A.Mutational analysis of the Myocilin gene in patients with primary open-angle glaucoma in Morocco.
Ophthalmic Genet. 2003 Sep;24(3):153-60.
Gene symbolMYOC
Reference transcriptNM_000261.1
DNA Changec.366C>T
A.A. Changep.Gly122Gly
Exon/Intronexon 1
Variation Typesubstitution
Cases57 POAG
Controls60 Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
G01 (1.7%)
ReferenceMelki R, Idhajji A, Driouiche S, Hassani M, Boukabboucha A, Akhayat O, Garchon H, Belmouden A.Mutational analysis of the Myocilin gene in patients with primary open-angle glaucoma in Morocco.
Ophthalmic Genet. 2003 Sep;24(3):153-60.
Gene symbolMYOC
Reference transcriptNM_000261.1
DNA Changec.404C>T
A.A. Changep.Thr135Ile
Exon/Intronexon 1
Variation Typesubstitution
Cases57 POAG
Controls60 Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
I02 (3.3%)
ReferenceMelki R, Idhajji A, Driouiche S, Hassani M, Boukabboucha A, Akhayat O, Garchon H, Belmouden A.Mutational analysis of the Myocilin gene in patients with primary open-angle glaucoma in Morocco.
Ophthalmic Genet. 2003 Sep;24(3):153-60.
Gene symbolMYOC
Reference transcriptNM_000261.1
DNA Changec.855G>T
A.A. Changep.Thr285Thr
Exon/Intronexon 3
Variation Typesubstitution
Cases57 POAG
Controls60 Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
T1 (1.8%)2 (3.3%)
ReferenceMelki R, Idhajji A, Driouiche S, Hassani M, Boukabboucha A, Akhayat O, Garchon H, Belmouden A.Mutational analysis of the Myocilin gene in patients with primary open-angle glaucoma in Morocco.
Ophthalmic Genet. 2003 Sep;24(3):153-60.
Gene symbolMYOC
Reference transcriptNM_000261.1
DNA Changec.975G>A
A.A. Changep.Thr325Thr
Exon/Intronexon 3
Variation Typesubstitution
Cases57 POAG
Controls60 Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
T8 (13.9%)3 (5%)
ReferenceMelki R, Idhajji A, Driouiche S, Hassani M, Boukabboucha A, Akhayat O, Garchon H, Belmouden A.Mutational analysis of the Myocilin gene in patients with primary open-angle glaucoma in Morocco.
Ophthalmic Genet. 2003 Sep;24(3):153-60.
Gene symbolMYOC
Reference transcriptNM_000261.1
DNA Changec.1041T>C
A.A. Changep.Tyr347Tyr
Exon/Intronexon 3
Variation Typesubstitution
Cases57 POAG
Controls60 Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
Y4 (7%)4 (6.7%)
ReferenceMelki R, Idhajji A, Driouiche S, Hassani M, Boukabboucha A, Akhayat O, Garchon H, Belmouden A.Mutational analysis of the Myocilin gene in patients with primary open-angle glaucoma in Morocco.
Ophthalmic Genet. 2003 Sep;24(3):153-60.
Gene symbolMYOC
Reference transcriptNM_000261.1
DNA Changec.1188G>A
A.A. Changep.Glu396Glu
Exon/Intronexon 3
Variation Typesubstitution
Cases57 POAG
Controls60 Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
E1 (1.8%)0
ReferenceMelki R, Idhajji A, Driouiche S, Hassani M, Boukabboucha A, Akhayat O, Garchon H, Belmouden A.Mutational analysis of the Myocilin gene in patients with primary open-angle glaucoma in Morocco.
Ophthalmic Genet. 2003 Sep;24(3):153-60.