NR2F2-AS1

NR2F2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 15:96080713-96337579

Links

ENSG00000247809 ∙ NCBI:644192 ∙ ∙ HGNC:44222 ∙ ∙ ∙ 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 NR2F2-AS1 gene.

• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NR2F2-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			1		1	2
Total	0	0	1	0	1

Variants in NR2F2-AS1

This is a list of pathogenic ClinVar variants found in the NR2F2-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
15-96326346-G-A		NR2F2-related disorder	Uncertain significance (May 14, 2024)
15-96326353-G-A			Uncertain significance (Apr 06, 2017)
15-96326466-G-T			Benign (Nov 12, 2018)
15-96331144-C-T			Benign (Jun 20, 2021)
15-96332041-C-T			Benign (Jun 20, 2021)
15-96332109-G-T		Congenital heart defects, multiple types, 4	Uncertain significance (Nov 08, 2019)
15-96332114-G-A			Uncertain significance (Jan 19, 2024)
15-96332124-A-G		Congenital heart defects, multiple types, 4	Uncertain significance (Dec 02, 2022)
15-96332128-G-A		NR2F2 associated disorders	Likely pathogenic (Jun 02, 2023)
15-96332141-G-A		Congenital heart defects, multiple types, 4	Likely benign (Apr 06, 2020)
15-96332153-C-T		NR2F2-related disorder	Likely benign (Nov 28, 2022)
15-96332169-C-T		Inborn genetic diseases	Pathogenic (Jan 03, 2017)
15-96332181-G-C		Inborn genetic diseases	Uncertain significance (Nov 08, 2021)
15-96332186-G-GCC		Congenital heart defects, multiple types, 4	Likely pathogenic (Nov 07, 2016)
15-96332196-GGCCCGCC-G		46,xx sex reversal 5 • Congenital heart defects, multiple types, 4	Pathogenic (Jun 02, 2020)
15-96332200-C-G		Congenital heart defects, multiple types, 4 • Inborn genetic diseases	Uncertain significance (Feb 26, 2024)
15-96332202-CCGCCCGG-C		46,xx sex reversal 5	Likely pathogenic (Dec 05, 2019)
15-96332205-C-T		Inborn genetic diseases	Uncertain significance (Apr 27, 2023)
15-96332215-C-T			Uncertain significance (Aug 14, 2023)
15-96332234-C-G		Congenital heart defects, multiple types, 4	Likely benign (Aug 16, 2022)
15-96332251-C-A		Inborn genetic diseases	Uncertain significance (Jan 10, 2023)
15-96332255-C-T		Congenital heart defects, multiple types, 4	Likely benign (Sep 21, 2023)
15-96332267-G-C		Inborn genetic diseases	Uncertain significance (Oct 26, 2021)
15-96332277-G-C		NR2F2-related congenital heart defects	Uncertain significance (May 30, 2019)
15-96332302-C-T		NR2F2-related disorder	Uncertain significance (Dec 09, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP