MYOCOS

myocilin opposite strand

Basic information

Region (hg38): 1:171600621-171638799

Links

ENSG00000283683 ∙ NCBI:110806290 ∙ ∙ HGNC:53429 ∙ Uniprot:A0A1B0GUC4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MYOCOS gene.

• Glaucoma of childhood (82 variants)
• Open-angle glaucoma (70 variants)
• Glaucoma 1, open angle, A (51 variants)
• Glaucoma 1, open angle, E (44 variants)
• Glaucoma (31 variants)
• not provided (29 variants)
• Inborn genetic diseases (8 variants)
• not specified (7 variants)
• Primary open angle glaucoma (2 variants)
• MYOC-Related Disorders (1 variants)
• 6 conditions (1 variants)
• Glaucoma 1, open angle, a, digenic (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYOCOS gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			6	1		7
missense			8	2	1	11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding	8	22	144	18	8	200
Total	8	22	158	21	9

Highest pathogenic variant AF is 0.000849

Variants in MYOCOS

This is a list of pathogenic ClinVar variants found in the MYOCOS region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-171635499-G-A		Glaucoma 1, open angle, A • Glaucoma	Uncertain significance (Jan 13, 2018)
1-171635594-T-C		Glaucoma • Glaucoma 1, open angle, A	Uncertain significance (Jan 13, 2018)
1-171635652-C-T		Glaucoma 1, open angle, A • Glaucoma	Uncertain significance (Jan 13, 2018)
1-171635684-T-C		Glaucoma 1, open angle, A • Glaucoma	Uncertain significance (Jan 13, 2018)
1-171635737-G-A		Glaucoma 1, open angle, A • Glaucoma	Uncertain significance (Jan 12, 2018)
1-171635743-G-T		Glaucoma • Glaucoma 1, open angle, A	Uncertain significance (Jan 12, 2018)
1-171635852-C-G		Glaucoma 1, open angle, A • Glaucoma	Benign (Apr 27, 2017)
1-171635854-C-T		Glaucoma • Glaucoma 1, open angle, A	Uncertain significance (Jan 13, 2018)
1-171635925-T-C		Glaucoma of childhood	Uncertain significance (May 02, 2023)
1-171635936-A-G		Glaucoma of childhood	Uncertain significance (May 09, 2022)
1-171635941-T-C		Open-angle glaucoma • MYOC-related disorder	Likely benign (Jul 05, 2023)
1-171635944-A-C		Glaucoma of childhood	Uncertain significance (May 09, 2022)
1-171635945-T-A		Glaucoma of childhood	Likely pathogenic (May 09, 2022)
1-171635948-C-G		Open-angle glaucoma	Uncertain significance (Apr 03, 2023)
1-171635949-A-C			Uncertain significance (Jan 20, 2014)
1-171635954-T-G		Open-angle glaucoma	Uncertain significance (Feb 15, 2023)
1-171635957-C-T		Glaucoma 1, open angle, E	Uncertain significance (May 09, 2022)
1-171635973-C-CG		Open-angle glaucoma	Uncertain significance (May 31, 2023)
1-171635974-C-T		Open-angle glaucoma	Uncertain significance (May 31, 2023)
1-171635976-G-A		Open-angle glaucoma	Likely benign (May 02, 2023)
1-171635977-G-A		Open-angle glaucoma	Uncertain significance (Jul 05, 2023)
1-171635984-G-A		Glaucoma of childhood	Uncertain significance (Dec 14, 2022)
1-171635988-C-T		Glaucoma of childhood	Uncertain significance (Feb 15, 2023)
1-171635993-C-A		Open-angle glaucoma	Uncertain significance (Apr 03, 2023)
1-171635998-G-A		Glaucoma of childhood	Likely pathogenic (May 09, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Mouse Genome Informatics

• Gene name: Myocos