HOXB-AS1

HOXB cluster antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 17:48543002-48554788

Links

ENSG00000230148 ∙ ∙ OMIM:618066 ∙ HGNC:43744 ∙ ∙ ∙ 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-AS1 gene.

• Inborn genetic diseases (24 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HOXB-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			24			24
Total	0	0	24	0	0

Variants in HOXB-AS1

This is a list of pathogenic ClinVar variants found in the HOXB-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
17-48543130-A-G		not specified	Uncertain significance (Dec 16, 2023)
17-48543213-A-T		not specified	Uncertain significance (Oct 03, 2022)
17-48543214-A-T		not specified	Uncertain significance (Oct 03, 2022)
17-48543231-A-G		not specified	Uncertain significance (Mar 07, 2023)
17-48543241-C-A		not specified	Uncertain significance (Jan 18, 2023)
17-48543262-C-G		not specified	Uncertain significance (Aug 02, 2021)
17-48543263-T-G		not specified	Uncertain significance (Nov 09, 2022)
17-48543274-G-A		not specified	Uncertain significance (Aug 08, 2023)
17-48543292-C-A		not specified	Uncertain significance (Apr 25, 2022)
17-48543322-A-C		not specified	Uncertain significance (Nov 15, 2021)
17-48543342-C-T		not specified	Uncertain significance (Feb 22, 2023)
17-48543346-C-T		not specified	Uncertain significance (Jan 23, 2024)
17-48543361-G-T		not specified	Uncertain significance (Jan 26, 2023)
17-48543445-G-C		not specified	Uncertain significance (Sep 25, 2023)
17-48543457-G-C		not specified	Uncertain significance (Apr 22, 2022)
17-48543490-C-G		not specified	Uncertain significance (Aug 01, 2022)
17-48543525-C-T		not specified	Uncertain significance (Jul 12, 2022)
17-48543526-G-C		not specified	Uncertain significance (Aug 14, 2023)
17-48543540-C-G		not specified	Uncertain significance (Jul 06, 2021)
17-48544547-G-A		not specified	Uncertain significance (Sep 23, 2023)
17-48544577-G-A		not specified	Uncertain significance (May 04, 2022)
17-48544637-G-A		not specified	Uncertain significance (Apr 23, 2024)
17-48544649-G-A		not specified	Uncertain significance (Jan 26, 2022)
17-48544691-T-G		not specified	Uncertain significance (Oct 26, 2022)
17-48544731-A-G		not specified	Uncertain significance (Apr 26, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP