HOXA11-AS

HOXA11 antisense RNA, the group of Antisense RNAs

Basic information

Region (hg38): 7:27184507-27189298

Previous symbols: [ "HOXA11AS" ]

Links

ENSG00000240990 ∙ NCBI:221883 ∙ OMIM:607530 ∙ HGNC:24957 ∙ ∙ ∙ 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 HOXA11-AS gene.

• Inborn genetic diseases (10 variants)
• not provided (6 variants)
• HOXA11-related condition (3 variants)
• not specified (2 variants)
• Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 (2 variants)
• Flexion contracture (1 variants)
• Abnormal bleeding;Thrombocytopenia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HOXA11-AS 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			22	1	2	25
Total	0	0	22	1	2

Variants in HOXA11-AS

This is a list of pathogenic ClinVar variants found in the HOXA11-AS region.

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

Position	Type	Phenotype	Significance	ClinVar
7-27184520-C-T			Uncertain significance (Apr 10, 2017)
7-27184536-C-A		HOXA11-related disorder	Likely benign (Nov 26, 2019)
7-27184541-C-G		not specified	Uncertain significance (Aug 30, 2022)
7-27184541-C-T		not specified	Uncertain significance (Mar 01, 2024)
7-27184550-C-A		not specified	Uncertain significance (May 08, 2023)
7-27184585-G-C		not specified	Uncertain significance (May 27, 2022)
7-27184588-G-T		not specified	Uncertain significance (Nov 08, 2022)
7-27184591-C-T		not specified	Uncertain significance (Apr 11, 2023)
7-27184599-AGCC-A		HOXA11-related disorder	Likely benign (Sep 12, 2019)
7-27184613-C-T		not specified	Uncertain significance (Jun 09, 2022)
7-27184626-C-A		HOXA11-related disorder	Likely benign (Jul 14, 2021)
7-27184633-G-T		not specified • HOXA11-related disorder	Likely benign (Sep 27, 2022)
7-27184636-G-T		HOXA11-related disorder	Uncertain significance (Aug 29, 2023)
7-27184637-G-A		not specified	Uncertain significance (May 31, 2023)
7-27184642-C-A		not specified	Uncertain significance (Oct 04, 2022)
7-27184651-G-T		not specified	Uncertain significance (Feb 06, 2024)
7-27184656-C-G		not specified	Benign (May 04, 2022)
7-27184686-G-T		not specified	Uncertain significance (Dec 13, 2023)
7-27184694-G-T		Radioulnar synostosis with amegakaryocytic thrombocytopenia 1	Uncertain significance (Feb 14, 2023)
7-27184749-C-G		Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 • HOXA11-related disorder	Uncertain significance (Nov 03, 2021)
7-27184754-C-T		HOXA11-related disorder	Uncertain significance (Oct 18, 2023)
7-27184772-T-G		not specified	Uncertain significance (Apr 28, 2022)
7-27184792-G-A			Uncertain significance (Jan 22, 2021)
7-27184797-G-C			Uncertain significance (Oct 04, 2019)
7-27184805-C-T		not specified	Uncertain significance (Aug 15, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Mouse Genome Informatics

• Gene name: Hoxa11os