HOXB-AS3

HOXB cluster antisense RNA 3, the group of Antisense RNAs

Basic information

Region (hg38): 17:48549630-48606414

Links

ENSG00000233101 ∙ NCBI:404266 ∙ ∙ HGNC:40283 ∙ Uniprot:C0HLZ6 ∙ AlphaFold ∙ 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 HOXB-AS3 gene.

• Inborn genetic diseases (56 variants)
• not provided (7 variants)
• not specified (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HOXB-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			58		7	65
Total	0	0	58	0	7

Variants in HOXB-AS3

This is a list of pathogenic ClinVar variants found in the HOXB-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
17-48550402-G-C		not specified	Uncertain significance (Jan 22, 2024)
17-48550425-T-G		not specified	Uncertain significance (Nov 01, 2022)
17-48550432-G-A		not specified	Uncertain significance (Jul 06, 2022)
17-48550482-T-C		not specified	Uncertain significance (Mar 28, 2023)
17-48550496-A-T		not specified	Uncertain significance (Dec 08, 2021)
17-48550540-G-A		not specified	Uncertain significance (Aug 20, 2024)
17-48550545-A-C		not specified	Uncertain significance (Aug 12, 2021)
17-48550558-A-C		not specified	Uncertain significance (Feb 09, 2022)
17-48550564-C-T		not specified	Uncertain significance (Aug 13, 2021)
17-48550599-G-C		not specified	Uncertain significance (Jul 21, 2021)
17-48550606-C-T		not specified	Uncertain significance (Dec 18, 2023)
17-48550614-C-T		not specified	Uncertain significance (Dec 16, 2023)
17-48550618-C-T		not specified	Uncertain significance (Jun 01, 2022)
17-48550624-C-T		not specified	Uncertain significance (Aug 30, 2022)
17-48550642-C-T		not specified	Uncertain significance (Oct 25, 2023)
17-48550662-G-A		not specified	Uncertain significance (Jun 21, 2021)
17-48550668-T-A			Uncertain significance (Jan 01, 2024)
17-48550736-G-C		not specified	Uncertain significance (May 03, 2023)
17-48550747-C-T		not specified	Uncertain significance (Aug 20, 2024)
17-48550756-G-T		not specified	Uncertain significance (Mar 04, 2024)
17-48550776-C-T		not specified	Uncertain significance (Sep 27, 2021)
17-48550782-G-A		not specified	Uncertain significance (Apr 12, 2024)
17-48550813-C-T		not specified	Uncertain significance (Aug 04, 2023)
17-48550816-T-G		not specified	Uncertain significance (Oct 17, 2023)
17-48550854-G-A		not specified	Uncertain significance (Jul 05, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• ghis: 0.406

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.114