OPA1-AS1

OPA1 antisense RNA 1, the group of Antisense RNAs

Basic information

Links

ENSG00000224855 ∙ NCBI:100873941 ∙ ∙ HGNC:40421 ∙ ∙ ∙ 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 OPA1-AS1 gene.

• not provided (79 variants)
• not specified (5 variants)
• Autosomal dominant optic atrophy classic form (5 variants)
• Osteoporosis;Mildly elevated creatine kinase;Limb pain;Myotonia (1 variants)
• Retinal dystrophy (1 variants)
• 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 form (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OPA1-AS1 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						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)				1		1
splice region						0
non coding	2		26	44	8	80
Total	2	0	26	45	8

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP