FEZF1-AS1

FEZF1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 7:122303658-122310119

Links

ENSG00000230316 ∙ NCBI:154860 ∙ ∙ HGNC:41001 ∙ ∙ ∙ 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 FEZF1-AS1 gene.

• not provided (22 variants)
• Inborn genetic diseases (13 variants)
• not specified (1 variants)
• Hypogonadotropic hypogonadism 22 with anosmia (1 variants)
• Hypogonadotropic hypogonadism 22 with or without anosmia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FEZF1-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		19	14	3	37
Total	1	0	19	14	3

Variants in FEZF1-AS1

This is a list of pathogenic ClinVar variants found in the FEZF1-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
7-122303659-A-G		Inborn genetic diseases	Uncertain significance (Jul 20, 2022)
7-122303686-C-G		Inborn genetic diseases	Uncertain significance (Sep 13, 2023)
7-122303703-G-C		FEZF1-related disorder	Likely benign (Feb 28, 2019)
7-122303727-C-A			Likely benign (Aug 16, 2022)
7-122303761-A-C		Inborn genetic diseases	Uncertain significance (Feb 15, 2023)
7-122303767-G-A		Inborn genetic diseases	Uncertain significance (May 30, 2024)
7-122303784-GA-G		Hypogonadotropic hypogonadism 22 with anosmia	Pathogenic (Sep 04, 2014)
7-122303823-C-T			Likely benign (Dec 19, 2017)
7-122303848-T-C			Uncertain significance (Dec 25, 2021)
7-122303885-A-G		FEZF1-related disorder	Likely benign (Jul 28, 2023)
7-122303915-C-G		FEZF1-related disorder	Likely benign (Jan 08, 2024)
7-122303934-G-A			Likely benign (Mar 01, 2023)
7-122303944-C-G		Inborn genetic diseases	Uncertain significance (Oct 04, 2022)
7-122303975-G-A		Inborn genetic diseases	Uncertain significance (Apr 25, 2022)
7-122303989-T-C		Inborn genetic diseases	Uncertain significance (Aug 21, 2023)
7-122303998-C-T		Inborn genetic diseases	Uncertain significance (Sep 19, 2023)
7-122304000-C-T			Likely benign (Oct 09, 2018)
7-122304033-C-T			Likely benign (Jun 09, 2018)
7-122304044-C-T		Inborn genetic diseases	Uncertain significance (Jun 26, 2023)
7-122304068-C-A		Inborn genetic diseases	Uncertain significance (May 04, 2022)
7-122304133-G-A		Inborn genetic diseases	Uncertain significance (Jan 04, 2022)
7-122304153-C-G		FEZF1-related disorder	Benign/Likely benign (Jan 20, 2023)
7-122304172-C-T			Uncertain significance (Mar 27, 2022)
7-122304175-G-A		Hypogonadotropic hypogonadism 22 with or without anosmia • Inborn genetic diseases	Uncertain significance (Jan 08, 2024)
7-122304184-C-T		Inborn genetic diseases	Uncertain significance (Jan 31, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP