HOXC13-AS

HOXC13 antisense RNA, the group of Antisense RNAs

Basic information

Region (hg38): 12:53935250-53939692

Previous symbols: [ "HOXC-AS5" ]

Links

ENSG00000249641 ∙ NCBI:100874366 ∙ ∙ HGNC:43753 ∙ ∙ ∙ 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 HOXC13-AS gene.

• Inborn genetic diseases (15 variants)
• not provided (6 variants)
• Ectodermal dysplasia 9, hair/nail type (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HOXC13-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	2		18	2	2	24
Total	2	0	18	2	2

Variants in HOXC13-AS

This is a list of pathogenic ClinVar variants found in the HOXC13-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
12-53938939-G-T		not specified	Uncertain significance (Aug 05, 2024)
12-53938940-C-T		not specified	Uncertain significance (Aug 05, 2024)
12-53938949-C-CTTA			Benign (Jan 25, 2024)
12-53938959-T-C		not specified	Uncertain significance (Jan 10, 2023)
12-53938967-G-A			Likely benign (Jul 10, 2023)
12-53938989-T-TCGG		HOXC13-related disorder	Likely benign (May 25, 2022)
12-53938997-G-A		not specified	Uncertain significance (Jan 20, 2023)
12-53939006-G-A		not specified	Uncertain significance (Apr 07, 2022)
12-53939010-G-A		not specified	Uncertain significance (Feb 14, 2024)
12-53939018-G-A			Uncertain significance (Apr 26, 2022)
12-53939019-G-A		not specified	Uncertain significance (Oct 27, 2023)
12-53939031-C-CG			Pathogenic (Nov 12, 2022)
12-53939033-G-C		not specified	Uncertain significance (Apr 04, 2024)
12-53939142-G-C		not specified	Uncertain significance (Jan 29, 2024)
12-53939166-C-T			Uncertain significance (Jan 20, 2020)
12-53939171-C-G		not specified	Uncertain significance (Feb 16, 2023)
12-53939178-C-T		not specified	Uncertain significance (Feb 23, 2023)
12-53939186-A-G		HOXC13-related disorder • not specified	Uncertain significance (Nov 12, 2024)
12-53939187-C-A			Benign (Aug 10, 2023)
12-53939197-G-A			Likely benign (Jun 01, 2024)
12-53939208-C-T		not specified	Uncertain significance (Oct 12, 2021)
12-53939231-C-T		Ectodermal dysplasia 9, hair/nail type	Uncertain significance (Oct 28, 2021)
12-53939235-C-T		not specified	Uncertain significance (Dec 14, 2021)
12-53939241-C-T		not specified	Uncertain significance (Feb 09, 2022)
12-53939258-A-T		not specified	Uncertain significance (Nov 13, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP