OPA1-AS1

Gene

OPA1 antisense RNA 1, the group of Antisense RNAs

Gene summary

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

MANE transcript

N/A

Inheritance

—

ClinVar variants

B:1

Top phenotype

Autosomal dominant optic atrophy classic form

Max pathogenic AF

—

Genomic locus

chr3:193,618,609-193,627,337

External References & Databases

Ensembl (ENSG00000224855)

NCBI Gene (100873941)

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 OPA1-AS1 variants in ClinVar

6 Conditions Cataloged

not providedTotal: 79

not specifiedTotal: 5

Autosomal dominant optic atrophy classic formTotal: 5

Osteoporosis;Mildly elevated creatine kinase;Limb pain;MyotoniaTotal: 1

Retinal dystrophyTotal: 1

Abortive cerebellar ataxia;Glaucoma, normal tension, susceptibility to;Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy;Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type);Autosomal dominant optic atrophy classic formTotal: 1

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						0
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)				1 clinvar		1
Total	0	0	0	1	0	1

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
No transcripts match your selected source or search query.

dbNSFP Gene Annotations

Source: dbNSFP