NKX2-1-AS1

NKX2-1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 14:36519278-36655552

Links

ENSG00000253563 ∙ NCBI:100506237 ∙ ∙ HGNC:40585 ∙ ∙ ∙ 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 NKX2-1-AS1 gene.

• not provided (24 variants)
• Brain-lung-thyroid syndrome (4 variants)
• Benign hereditary chorea (3 variants)
• Inborn genetic diseases (3 variants)
• Interstitial lung disease 2 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NKX2-1-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	3		10	13	4	30
Total	3	0	10	13	4

Variants in NKX2-1-AS1

This is a list of pathogenic ClinVar variants found in the NKX2-1-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
14-36519337-G-C			Uncertain significance (Jul 06, 2022)
14-36519338-T-G		Inborn genetic diseases	Uncertain significance (Feb 10, 2022)
14-36519341-T-G		Inborn genetic diseases	Uncertain significance (Jul 20, 2021)
14-36519418-G-A			Likely benign (Nov 15, 2018)
14-36519521-T-C		Brain-lung-thyroid syndrome	Likely benign (May 28, 2019)
14-36519624-A-G			Likely benign (Oct 16, 2020)
14-36519723-A-AAG			Benign (Aug 20, 2019)
14-36520042-G-T			Likely benign (May 23, 2023)
14-36520046-G-T			Likely benign (Mar 26, 2023)
14-36520047-T-A			Uncertain significance (May 24, 2022)
14-36520061-G-C			Uncertain significance (Jan 06, 2022)
14-36520063-C-G		Interstitial lung disease 2	Uncertain significance (Aug 01, 2022)
14-36520065-G-GGGCTGCTCCTCCCTCCCGCCGC		Benign hereditary chorea	Pathogenic (Jun 21, 2024)
14-36520067-G-A			Likely benign (Nov 09, 2021)
14-36520077-C-A			Uncertain significance (Mar 08, 2024)
14-36520085-C-T			Likely benign (Jan 19, 2018)
14-36520101-C-T		Benign hereditary chorea • Brain-lung-thyroid syndrome • NKX2-1-related disorder	Benign/Likely benign (Dec 15, 2023)
14-36520103-C-T			Likely benign (Mar 23, 2022)
14-36520105-C-A			Uncertain significance (May 20, 2023)
14-36520109-C-T			Likely benign (Jul 07, 2023)
14-36520112-A-T			Uncertain significance (Dec 04, 2023)
14-36520113-C-T			Likely benign (Nov 03, 2022)
14-36520122-G-A			Likely benign (Feb 03, 2022)
14-36520122-G-T			Uncertain significance (Jan 18, 2024)
14-36520123-A-G			Uncertain significance (Aug 14, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP