RORA-AS1

RORA antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 15:60479151-60630637

Links

ENSG00000245534 ∙ NCBI:101928784 ∙ ∙ HGNC:51410 ∙ ∙ ∙ 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 RORA-AS1 gene.

• not provided (46 variants)
• Intellectual developmental disorder with or without epilepsy or cerebellar ataxia (41 variants)
• Inborn genetic diseases (14 variants)
• not specified (3 variants)
• Neurodevelopmental disorder (2 variants)
• See cases (2 variants)
• Intellectual disability (1 variants)
• Severe intellectual deficiency (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RORA-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)						0
splice region						0
non coding	12	11	52	19	5	99
Total	12	11	52	19	5

Variants in RORA-AS1

This is a list of pathogenic ClinVar variants found in the RORA-AS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-60497425-GACATTCTAGAAGTGCTTAGGTGATAACATTT-G			Uncertain significance (Jun 10, 2022)
15-60497456-T-A		Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	Uncertain significance (May 31, 2022)
15-60497467-T-G		Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	Uncertain significance (Oct 27, 2022)
15-60497478-G-C			Uncertain significance (Dec 15, 2023)
15-60497529-G-A			Pathogenic (May 16, 2024)
15-60497541-G-C			Uncertain significance (May 16, 2024)
15-60497580-G-A		Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	Conflicting classifications of pathogenicity (Apr 30, 2024)
15-60497599-G-T		Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	Benign (Nov 07, 2021)
15-60497599-G-G			Benign (Aug 18, 2018)
15-60499900-G-C		Inborn genetic diseases	Uncertain significance (May 29, 2024)
15-60499902-A-G			Uncertain significance (Dec 03, 2019)
15-60499904-T-A		RORA-related disorder	Likely benign (Jul 01, 2024)
15-60499914-C-T		Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	Uncertain significance (Nov 06, 2023)
15-60499915-G-A			Pathogenic (Dec 22, 2023)
15-60499916-G-T		Inborn genetic diseases	Uncertain significance (May 21, 2024)
15-60499917-T-C			Uncertain significance (Aug 30, 2022)
15-60499934-G-T		Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	Uncertain significance (Feb 11, 2020)
15-60499944-G-A		Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	Likely benign (Oct 25, 2021)
15-60499953-AT-A		Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	Likely pathogenic (Jul 17, 2023)
15-60499954-T-C		Inborn genetic diseases	Uncertain significance (Apr 15, 2024)
15-60499995-C-T		Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	Likely pathogenic (Mar 28, 2023)
15-60500962-CTGACATCAGTACAAATGCAGAAA-AT		Inborn genetic diseases	Pathogenic (Aug 12, 2022)
15-60501002-T-G		Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	Uncertain significance (Feb 08, 2021)
15-60501043-A-G		Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	Uncertain significance (Mar 28, 2019)
15-60502752-C-A		Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	Uncertain significance (Aug 06, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP