ZFHX2-AS1

ZFHX2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 14:23511760-23560778

Links

ENSG00000157306 ∙ ∙ OMIM:617833 ∙ HGNC:52658 ∙ ∙ ∙ 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 ZFHX2-AS1 gene.

• Inborn genetic diseases (154 variants)
• not provided (42 variants)
• Indifference to pain, congenital, autosomal dominant (6 variants)
• ZFHX2-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZFHX2-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		156	30	13	200
Total	1	0	156	30	13

Variants in ZFHX2-AS1

This is a list of pathogenic ClinVar variants found in the ZFHX2-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
14-23521990-G-A		not specified	Uncertain significance (Jul 15, 2021)
14-23522011-G-A		not specified	Uncertain significance (Dec 15, 2023)
14-23522057-A-T		not specified	Likely benign (Apr 07, 2023)
14-23522068-G-A		not specified	Uncertain significance (Mar 01, 2024)
14-23522095-C-T		ZFHX2-related disorder	Likely benign (Aug 01, 2024)
14-23522104-G-A		not specified	Uncertain significance (Jan 30, 2024)
14-23522119-C-T		not specified	Uncertain significance (Jan 26, 2023)
14-23522120-G-A		not specified	Uncertain significance (Sep 20, 2023)
14-23522131-G-A		not specified	Uncertain significance (Jun 05, 2024)
14-23522133-G-A		ZFHX2-related disorder	Likely benign (Aug 29, 2019)
14-23522137-C-T		not specified	Uncertain significance (Nov 10, 2022)
14-23522138-G-A		not specified	Uncertain significance (Feb 16, 2023)
14-23522141-G-T		not specified	Uncertain significance (Dec 20, 2023)
14-23522236-C-T		not specified	Uncertain significance (Jan 25, 2023)
14-23522249-G-A		not specified	Uncertain significance (May 04, 2022)
14-23522254-A-T		not specified	Uncertain significance (Jul 06, 2021)
14-23522257-A-C		not specified	Uncertain significance (Dec 15, 2023)
14-23522278-G-A		not specified	Uncertain significance (Feb 14, 2024)
14-23522287-G-A		ZFHX2-related disorder	Benign (Jun 21, 2018)
14-23522288-G-A		not specified	Uncertain significance (Aug 23, 2021)
14-23522320-C-T		not specified	Uncertain significance (Jun 29, 2023)
14-23522332-C-T		not specified	Uncertain significance (Jan 10, 2023)
14-23522333-G-A		not specified	Uncertain significance (Feb 15, 2023)
14-23522384-C-T		not specified	Uncertain significance (Jan 03, 2022)
14-23522511-C-A		not specified	Uncertain significance (Feb 13, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.0724