NCF4-AS1

NCF4 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 22:36847367-36870486

Links

ENSG00000183822 ∙ NCBI:107985578 ∙ ∙ HGNC:40393 ∙ ∙ ∙ 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 NCF4-AS1 gene.

• Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 (119 variants)
• not provided (35 variants)
• Inborn genetic diseases (5 variants)
• not specified (4 variants)
• Chronic granulomatous disease (3 variants)
• NCF4-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NCF4-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	4	4	54	62	24	148
Total	4	4	54	62	24

Highest pathogenic variant AF is 0.0000329

Variants in NCF4-AS1

This is a list of pathogenic ClinVar variants found in the NCF4-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
22-36860804-G-A			Benign (Aug 08, 2018)
22-36861077-C-T			Likely benign (May 20, 2019)
22-36861135-G-A			Benign (Oct 24, 2018)
22-36861189-G-A		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Mar 12, 2023)
22-36861193-C-T		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (Jun 09, 2020)
22-36861194-G-A		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (May 15, 2023)
22-36861197-C-G		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (Aug 19, 2022)
22-36861198-C-T		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Jan 26, 2024)
22-36861199-G-A		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (Oct 17, 2022)
22-36861201-G-A		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Nov 09, 2018)
22-36861205-T-G		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Pathogenic (Jul 06, 2020)
22-36861206-G-A		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (Aug 04, 2021)
22-36861212-C-A		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Jul 07, 2020)
22-36861213-G-A		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Nov 15, 2023)
22-36861216-G-T		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Apr 10, 2023)
22-36861223-C-T		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Aug 19, 2022)
22-36862461-T-C		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Benign (Jan 02, 2024)
22-36863879-C-T			Benign (Sep 26, 2018)
22-36864038-C-T		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Feb 13, 2023)
22-36864039-G-A		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Conflicting classifications of pathogenicity (Jan 08, 2024)
22-36864039-G-T		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Likely benign (Aug 30, 2019)
22-36864042-C-T		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (Jan 26, 2022)
22-36864044-G-A		Chronic granulomatous disease	Likely pathogenic (Jul 19, 2021)
22-36864046-G-A		not specified	Uncertain significance (Dec 05, 2024)
22-36864053-A-G		Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	Uncertain significance (May 06, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP