ZFHX3-AS1

ZFHX3 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 16:72664791-72874944

Links

ENSG00000259768 ∙ NCBI:101927978 ∙ ∙ HGNC:56033 ∙ ∙ ∙ 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 ZFHX3-AS1 gene.

• Inborn genetic diseases (85 variants)
• not provided (38 variants)
• Neurodevelopmental disorder (5 variants)
• not specified (4 variants)
• Short stature (2 variants)
• Intellectual disability (1 variants)
• Prostate cancer, somatic (1 variants)
• Autism spectrum disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZFHX3-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		5	92	17	21	135
Total	0	5	92	17	21

Variants in ZFHX3-AS1

This is a list of pathogenic ClinVar variants found in the ZFHX3-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
16-72787197-C-CA			Uncertain significance (Jul 20, 2022)
16-72787220-T-C		not specified	Uncertain significance (Mar 30, 2024)
16-72787224-G-C		not specified	Uncertain significance (Mar 30, 2024)
16-72787228-T-C		not specified	Uncertain significance (Mar 30, 2024)
16-72787228-T-G		not specified	Uncertain significance (Aug 02, 2021)
16-72787229-T-G		not specified	Uncertain significance (Mar 30, 2024)
16-72787240-A-G		not specified	Uncertain significance (Mar 30, 2024)
16-72787301-C-T		not specified	Uncertain significance (Jan 30, 2024)
16-72787302-G-A			Likely benign (May 01, 2022)
16-72787346-T-G		not specified	Uncertain significance (Apr 24, 2024)
16-72787355-C-T		not specified	Uncertain significance (Jul 06, 2021)
16-72787391-G-A		not specified	Uncertain significance (Jun 02, 2024)
16-72787396-G-C		not specified	Uncertain significance (Mar 30, 2024)
16-72787400-C-G		not specified	Uncertain significance (Mar 30, 2024)
16-72787403-A-G		not specified	Uncertain significance (Mar 30, 2024)
16-72787404-A-G		ZFHX3-related disorder	Benign (Oct 01, 2022)
16-72787412-A-G		not specified	Uncertain significance (Mar 30, 2024)
16-72787423-G-A		not specified	Uncertain significance (Jul 12, 2023)
16-72787435-C-G		not specified	Uncertain significance (Sep 20, 2023)
16-72787444-T-A		not specified	Uncertain significance (Aug 08, 2023)
16-72787445-G-A		ZFHX3-related disorder	Benign (Dec 31, 2019)
16-72787446-G-C		ZFHX3-related disorder	Benign (Nov 16, 2019)
16-72787477-G-A		not specified	Uncertain significance (May 08, 2023)
16-72787482-A-C		ZFHX3-related disorder	Likely benign (Jul 10, 2019)
16-72787494-G-C		not specified	Uncertain significance (Mar 31, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP