HOXD-AS2

HOXD cluster antisense RNA 2, the group of Antisense RNAs

Basic information

Region (hg38): 2:176121611-176137098

Links

ENSG00000237380 ∙ NCBI:100506783 ∙ ∙ HGNC:43756 ∙ ∙ ∙ 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 HOXD-AS2 gene.

• Inborn genetic diseases (35 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HOXD-AS2 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			35		2	37
Total	0	0	35	0	2

Variants in HOXD-AS2

This is a list of pathogenic ClinVar variants found in the HOXD-AS2 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-176122788-G-A		not specified	Uncertain significance (Aug 12, 2021)
2-176122788-G-C			Benign (Jul 15, 2018)
2-176122865-G-A		not specified	Uncertain significance (Sep 30, 2024)
2-176122875-C-A		not specified	Uncertain significance (Dec 19, 2023)
2-176122935-C-T		not specified	Uncertain significance (Jun 17, 2024)
2-176122952-G-C		not specified	Uncertain significance (Jun 08, 2022)
2-176122964-T-C		not specified	Uncertain significance (Feb 07, 2023)
2-176123067-T-G		not specified	Uncertain significance (Apr 07, 2022)
2-176123073-C-A		not specified	Uncertain significance (Dec 07, 2024)
2-176123102-C-A		HOXD9-related disorder	Likely benign (Aug 09, 2022)
2-176123105-G-T		not specified	Uncertain significance (Sep 10, 2024)
2-176123115-T-C		not specified	Uncertain significance (Dec 04, 2024)
2-176123121-C-T		not specified	Uncertain significance (Jul 06, 2021)
2-176123186-G-A		not specified	Uncertain significance (Dec 12, 2023)
2-176123226-C-G		not specified	Uncertain significance (Jun 01, 2023)
2-176123231-G-C		HOXD9-related disorder	Likely benign (Mar 20, 2023)
2-176123231-G-T		HOXD9-related disorder	Likely benign (Feb 28, 2023)
2-176123234-C-A		not specified	Uncertain significance (Nov 30, 2021)
2-176123312-A-G		not specified	Uncertain significance (Dec 19, 2023)
2-176123313-C-T		not specified	Uncertain significance (Oct 24, 2024)
2-176123354-G-A		not specified	Uncertain significance (Nov 08, 2024)
2-176123358-G-A		not specified	Uncertain significance (Apr 12, 2024)
2-176123373-G-A		not specified	Uncertain significance (Dec 09, 2024)
2-176123406-T-C		not specified	Uncertain significance (Jun 30, 2024)
2-176123418-C-A		not specified	Uncertain significance (Oct 04, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP