NR2F1-AS1

NR2F1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 5:93360779-93585649

Links

ENSG00000237187 ∙ NCBI:441094 ∙ ∙ HGNC:48622 ∙ ∙ ∙ 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 NR2F1-AS1 gene.

• not provided (3 variants)
• Bosch-Boonstra-Schaaf optic atrophy syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NR2F1-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	1					1
non coding	3	19	5	1		28
Total	3	19	5	1	0

Variants in NR2F1-AS1

This is a list of pathogenic ClinVar variants found in the NR2F1-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
5-93583263-A-G			Likely benign (Feb 28, 2022)
5-93583271-GTC-G			Likely benign (Oct 23, 2019)
5-93583436-T-C			Likely benign (Jun 29, 2018)
5-93584837-G-A			Likely benign (Jun 14, 2018)
5-93584991-C-T		not specified	Likely benign (Jan 23, 2018)
5-93585024-A-C			Pathogenic (Aug 05, 2022)
5-93585024-A-G			Pathogenic (Aug 23, 2018)
5-93585025-T-A			Pathogenic (May 06, 2024)
5-93585025-T-C		Bosch-Boonstra-Schaaf optic atrophy syndrome • Inborn genetic diseases	Pathogenic (Dec 28, 2021)
5-93585026-G-A		Bosch-Boonstra-Schaaf optic atrophy syndrome	Pathogenic (Jun 02, 2021)
5-93585028-C-T		Bosch-Boonstra-Schaaf optic atrophy syndrome	Uncertain significance (Dec 27, 2019)
5-93585037-T-C		Inborn genetic diseases	Conflicting classifications of pathogenicity (Aug 10, 2023)
5-93585040-G-A			Uncertain significance (Jun 25, 2022)
5-93585043-G-A			Benign/Likely benign (Dec 04, 2023)
5-93585052-A-G			Likely benign (Nov 27, 2023)
5-93585055-C-T			Uncertain significance (Oct 04, 2022)
5-93585058-A-G			Uncertain significance (Dec 15, 2021)
5-93585063-G-T		Inborn genetic diseases	Conflicting classifications of pathogenicity (Aug 05, 2024)
5-93585071-C-T			Likely benign (Sep 19, 2022)
5-93585071-CG-C		Bosch-Boonstra-Schaaf optic atrophy syndrome	Pathogenic (Jul 17, 2023)
5-93585072-G-C		Bosch-Boonstra-Schaaf optic atrophy syndrome	Uncertain significance (Aug 31, 2023)
5-93585076-G-T			Benign (Aug 17, 2023)
5-93585080-C-T			Likely benign (Aug 17, 2021)
5-93585081-C-T			Uncertain significance (Nov 01, 2022)
5-93585082-C-A			Uncertain significance (Jun 04, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP