NRXN2-AS1

NRXN2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 11:64646399-64659681

Links

ENSG00000237410 ∙ NCBI:107984337 ∙ ∙ HGNC:40416 ∙ ∙ ∙ 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 NRXN2-AS1 gene.

• not provided (14 variants)
• not specified (13 variants)
• Inborn genetic diseases (11 variants)
• NRXN2-related condition (3 variants)
• NRXN2-associated Neurodevelopmental disorder (1 variants)
• Developmental and epileptic encephalopathy, 1 (1 variants)
• See cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NRXN2-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			23	5	12	40
Total	0	0	23	5	12

Variants in NRXN2-AS1

This is a list of pathogenic ClinVar variants found in the NRXN2-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
11-64648218-C-T		NRXN2-related disorder	Uncertain significance (Aug 16, 2023)
11-64648219-G-A		not specified	Likely benign (May 22, 2015)
11-64648254-G-A		not specified	Uncertain significance (Feb 01, 2017)
11-64648295-G-A		not specified • NRXN2-related disorder	Benign (Dec 04, 2020)
11-64648431-C-T			Benign (Jun 20, 2021)
11-64648559-C-A			Benign (Jun 21, 2021)
11-64648761-T-C			Uncertain significance (Aug 18, 2021)
11-64648763-C-A		not specified	Uncertain significance (Nov 07, 2022)
11-64648763-C-T		NRXN2-associated Neurodevelopmental disorder	Uncertain significance (Feb 05, 2021)
11-64648773-C-A		not specified	Uncertain significance (Jun 21, 2021)
11-64648789-T-C		not specified	Uncertain significance (Oct 12, 2016)
11-64648800-C-T		not specified	Uncertain significance (Oct 27, 2021)
11-64648804-G-C		not specified • NRXN2-related disorder	Benign (Nov 13, 2015)
11-64648841-C-T		Developmental and epileptic encephalopathy, 1	Uncertain significance (Dec 17, 2018)
11-64648884-T-C		not specified • NRXN2-related disorder	Likely benign (Dec 31, 2019)
11-64650496-G-A		not specified	Uncertain significance (Sep 16, 2021)
11-64650498-G-A		NRXN2-related disorder	Uncertain significance (Jun 10, 2023)
11-64650520-C-T		not specified	Uncertain significance (Jan 23, 2023)
11-64650787-T-C			Benign (Jun 19, 2021)
11-64650833-G-A			Benign (Jun 19, 2021)
11-64651249-C-T		not specified	Benign (Jun 25, 2019)
11-64651268-C-T		not specified	Uncertain significance (May 17, 2023)
11-64651290-G-A		not specified	Benign/Likely benign (Dec 31, 2019)
11-64651428-G-A		not specified	Benign (Jun 22, 2018)
11-64651435-C-T		not specified	Uncertain significance (Aug 02, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP