MYOCOS

Gene

myocilin opposite strand

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

MANE transcript

NM_001391940.1

Inheritance

—

ClinVar variants

U:14B:4

Top phenotype

Glaucoma of childhood

Max pathogenic AF

—

Genomic locus

chr1:171,600,621-171,638,799

External References & Databases

Ensembl (ENSG00000283683)

NCBI Gene (110806290)

Transcript & Mutation Effects

hg38 • Region Span ~38.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MYOCOS variants in ClinVar

12 Conditions Cataloged

Glaucoma of childhoodTotal: 82

Open-angle glaucomaTotal: 70

Glaucoma 1, open angle, ATotal: 51

Glaucoma 1, open angle, ETotal: 44

GlaucomaTotal: 31

not providedTotal: 29

Inborn genetic diseasesTotal: 8

not specifiedTotal: 7

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			6 clinvar	1 clinvar		7
missense			8 clinvar	2 clinvar	1 clinvar	11
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	14	3	1	18

Highest pathogenic variant AF is 0.000848606

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 11 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001391940.1	RefSeq	NP_001378869.1	2	MANE Select
ENST00000637642.2	Ensembl	ENSP00000490820.1	2	MANE Select
NM_001368164.1	RefSeq	NP_001355093.1	2	Standard
ENST00000636697.1	Ensembl	ENSP00000489662.1	2	Standard

dbNSFP Gene Annotations

Source: dbNSFP