HOXA-AS3

HOXA cluster antisense RNA 3, the group of Antisense RNAs

Basic information

Region (hg38): 7:27129977-27155928

Links

ENSG00000254369 ∙ NCBI:100133311 ∙ OMIM:618706 ∙ HGNC:43748 ∙ ∙ ∙ 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 HOXA-AS3 gene.

• Inborn genetic diseases (42 variants)
• not provided (10 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HOXA-AS3 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			43	2	7	52
Total	0	0	43	2	7

Variants in HOXA-AS3

This is a list of pathogenic ClinVar variants found in the HOXA-AS3 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
7-27129998-T-C			Benign (Nov 12, 2018)
7-27130175-G-C		HOXA4-related disorder	Likely benign (Mar 24, 2021)
7-27130210-C-T		HOXA4-related disorder	Likely benign (Jul 06, 2022)
7-27130219-G-A		not specified	Uncertain significance (Mar 19, 2024)
7-27130286-G-A		not specified	Uncertain significance (Apr 18, 2024)
7-27130309-G-A		not specified	Uncertain significance (Sep 26, 2022)
7-27130315-A-G			Benign (Nov 12, 2018)
7-27130320-G-C		HOXA4-related disorder	Likely benign (Sep 09, 2021)
7-27130342-T-C		not specified	Uncertain significance (Dec 10, 2024)
7-27130358-G-C		not specified	Uncertain significance (Aug 02, 2021)
7-27130360-C-A		not specified	Uncertain significance (Nov 22, 2021)
7-27130360-C-T		not specified	Uncertain significance (May 20, 2024)
7-27130372-G-T		not specified	Uncertain significance (Dec 02, 2022)
7-27130387-G-A		not specified	Uncertain significance (Feb 27, 2023)
7-27130415-C-T			Uncertain significance (Mar 01, 2022)
7-27130449-G-A		HOXA4-related disorder	Likely benign (Dec 08, 2020)
7-27130454-C-T		not specified	Uncertain significance (May 08, 2023)
7-27130460-C-G		not specified	Uncertain significance (Jan 04, 2024)
7-27130466-A-G		not specified	Uncertain significance (Jun 06, 2023)
7-27130491-C-G		HOXA4-related disorder	Likely benign (Apr 09, 2021)
7-27130517-A-G		not specified	Uncertain significance (Dec 05, 2022)
7-27130519-G-A		not specified	Uncertain significance (Aug 04, 2024)
7-27130526-T-G		HOXA4-related disorder	Benign (Jun 09, 2021)
7-27130540-C-T			Benign (Nov 12, 2018)
7-27130548-G-T		not specified	Uncertain significance (May 28, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Mouse Genome Informatics

• Gene name: Hoxaas3