MYOC
Gene name: myocilin, trabecular meshwork inducible glucocorticoid response
OMIM ID: 601652 Chromosome location: 1q24.3
Mutations
Polymorphisms
| Disease/Phenotype | Glaucoma 1A, primary open angle |
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| Reference transcript | NM_000261.1 |
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| DNA Change | c.39T>G |
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| A.A. Change | p.Pro13Pro |
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| Exon/Intron | exon 1 |
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| Variation Type | substitution |
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| Cases | 57 POAG |
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| Controls | 60 Controls |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| P | 6 (10.5%) | 1 (1.7%) | | |
|
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| Reference | Melki 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. |
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| Disease/Phenotype | Glaucoma 1A, primary open angle |
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| Reference transcript | NM_000261.1 |
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| DNA Change | c.477A>G |
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| A.A. Change | p.Leu159Leu |
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| Exon/Intron | exon 1 |
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| Variation Type | substitution |
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| Cases | 57 POAG |
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| Controls | 60 Controls |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| L | 0 | 1 (1.7%) | | |
|
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| Reference | Melki 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. |
|---|
| Disease/Phenotype | Glaucoma 1A, primary open angle |
|---|
| Reference transcript | NM_000261.1 |
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| DNA Change | c.227G>A |
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| A.A. Change | p.Arg76Lys |
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| Exon/Intron | exon 1 |
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| Variation Type | substitution |
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| Cases | 57 POAG |
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| Controls | 60 Controls |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| K | 7 (12.3%) | 4 (6.7%) | | |
|
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| Reference | Melki 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. |
|---|
| Disease/Phenotype | Glaucoma 1A, primary open angle |
|---|
| Reference transcript | NM_000261.1 |
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| DNA Change | c.245G>A |
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| A.A. Change | p.Arg82His |
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| Exon/Intron | exon 1 |
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| Variation Type | substitution |
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| Cases | 57 POAG |
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| Controls | 60 Controls |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| H | 0 | 1 (1.7%) | | |
|
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| Reference | Melki 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. |
|---|
| Disease/Phenotype | Glaucoma 1A, primary open angle |
|---|
| Reference transcript | NM_000261.1 |
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| DNA Change | c.366C>T |
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| A.A. Change | p.Gly122Gly |
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| Exon/Intron | exon 1 |
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| Variation Type | substitution |
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| Cases | 57 POAG |
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| Controls | 60 Controls |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| G | 0 | 1 (1.7%) | | |
|
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| Reference | Melki 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. |
|---|
| Disease/Phenotype | Glaucoma 1A, primary open angle |
|---|
| Reference transcript | NM_000261.1 |
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| DNA Change | c.404C>T |
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| A.A. Change | p.Thr135Ile |
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| Exon/Intron | exon 1 |
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| Variation Type | substitution |
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| Cases | 57 POAG |
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| Controls | 60 Controls |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| I | 0 | 2 (3.3%) | | |
|
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| Reference | Melki 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. |
|---|
| Disease/Phenotype | Glaucoma 1A, primary open angle |
|---|
| Reference transcript | NM_000261.1 |
|---|
| DNA Change | c.855G>T |
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| A.A. Change | p.Thr285Thr |
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| Exon/Intron | exon 3 |
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| Variation Type | substitution |
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| Cases | 57 POAG |
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| Controls | 60 Controls |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| T | 1 (1.8%) | 2 (3.3%) | | |
|
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| Reference | Melki 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. |
|---|
| Disease/Phenotype | Glaucoma 1A, primary open angle |
|---|
| Reference transcript | NM_000261.1 |
|---|
| DNA Change | c.975G>A |
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| A.A. Change | p.Thr325Thr |
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| Exon/Intron | exon 3 |
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| Variation Type | substitution |
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| Cases | 57 POAG |
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| Controls | 60 Controls |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| T | 8 (13.9%) | 3 (5%) | | |
|
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| Reference | Melki 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. |
|---|
| Disease/Phenotype | Glaucoma 1A, primary open angle |
|---|
| Reference transcript | NM_000261.1 |
|---|
| DNA Change | c.1041T>C |
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| A.A. Change | p.Tyr347Tyr |
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| Exon/Intron | exon 3 |
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| Variation Type | substitution |
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| Cases | 57 POAG |
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| Controls | 60 Controls |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| Y | 4 (7%) | 4 (6.7%) | | |
|
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| Reference | Melki 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. |
|---|
| Disease/Phenotype | Glaucoma 1A, primary open angle |
|---|
| Reference transcript | NM_000261.1 |
|---|
| DNA Change | c.1188G>A |
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| A.A. Change | p.Glu396Glu |
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| Exon/Intron | exon 3 |
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| Variation Type | substitution |
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| Cases | 57 POAG |
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| Controls | 60 Controls |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| E | 1 (1.8%) | 0 | | |
|
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| Reference | Melki 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. |
|---|