NOP14-AS1

NOP14 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 4:2934876-2961738

Previous symbols: [ "C4orf10" ]

Links

ENSG00000249673 ∙ NCBI:317648 ∙ ∙ HGNC:20205 ∙ ∙ ∙ 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 NOP14-AS1 gene.

• Inborn genetic diseases (39 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NOP14-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			36	4	1	41
Total	0	0	36	4	1

Variants in NOP14-AS1

This is a list of pathogenic ClinVar variants found in the NOP14-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
4-2938899-G-C		not specified	Uncertain significance (Apr 01, 2024)
4-2938908-C-T		not specified	Uncertain significance (Aug 05, 2024)
4-2938913-C-T		not specified	Uncertain significance (Oct 29, 2021)
4-2938914-G-A		not specified	Uncertain significance (Jun 03, 2022)
4-2938925-G-A		not specified	Uncertain significance (Nov 17, 2022)
4-2939193-C-T		not specified	Uncertain significance (Dec 19, 2023)
4-2939239-C-T		not specified	Uncertain significance (Oct 21, 2024)
4-2939240-G-A		not specified	Uncertain significance (Nov 01, 2021)
4-2939261-T-C		not specified	Uncertain significance (Feb 10, 2023)
4-2939270-G-A		not specified	Uncertain significance (Oct 10, 2023)
4-2939339-C-G			Likely benign (May 24, 2018)
4-2939339-C-T		not specified	Uncertain significance (Sep 14, 2022)
4-2939542-G-A		not specified	Uncertain significance (Aug 19, 2024)
4-2939561-G-A		not specified	Uncertain significance (Jun 16, 2024)
4-2939572-C-G		not specified	Uncertain significance (Sep 09, 2021)
4-2939577-C-G		not specified	Uncertain significance (Mar 20, 2024)
4-2939587-A-G		not specified	Uncertain significance (Jun 22, 2024)
4-2939594-G-A		not specified	Uncertain significance (Sep 02, 2024)
4-2939600-G-A		not specified	Conflicting classifications of pathogenicity (Feb 01, 2024)
4-2939621-C-T		not specified	Uncertain significance (Oct 04, 2022)
4-2941596-G-C		not specified	Uncertain significance (Oct 05, 2021)
4-2941647-T-C		not specified	Likely benign (Mar 23, 2022)
4-2941679-A-G		not specified	Uncertain significance (Jun 23, 2023)
4-2941691-C-T		not specified	Uncertain significance (Nov 14, 2023)
4-2942228-A-T		not specified	Uncertain significance (Sep 25, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP