HIF1A-AS3

HIF1A antisense RNA 3, the group of Antisense RNAs

Basic information

Region (hg38): 14:61678402-61751163

Links

ENSG00000258667 ∙ NCBI:105370526 ∙ ∙ HGNC:54284 ∙ ∙ ∙ 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 HIF1A-AS3 gene.

• Inborn genetic diseases (18 variants)
• not provided (14 variants)
• Enchondromatosis (4 variants)
• Maffucci syndrome (3 variants)
• Malignant tumor of prostate (1 variants)
• not specified (1 variants)
• Cholangiocarcinoma (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HIF1A-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	1	6	21	2	10	40
Total	1	6	21	2	10

Highest pathogenic variant AF is 0.00214

Variants in HIF1A-AS3

This is a list of pathogenic ClinVar variants found in the HIF1A-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
14-61697832-AT-A			Benign (Sep 18, 2023)
14-61720408-A-G		not specified	Uncertain significance (Feb 26, 2024)
14-61720467-G-T		not specified	Uncertain significance (Jul 26, 2022)
14-61720468-C-T		not specified	Uncertain significance (Mar 29, 2024)
14-61720494-G-C		Maffucci syndrome	Likely pathogenic (-)
14-61720501-C-T		not specified	Uncertain significance (Nov 10, 2022)
14-61720526-G-A		not specified	Uncertain significance (Oct 04, 2022)
14-61721514-T-A		not specified	Uncertain significance (Jun 06, 2023)
14-61721575-G-A			Pathogenic (May 23, 2018)
14-61721641-T-C		not specified	Uncertain significance (Jan 04, 2022)
14-61721781-T-C		not specified	Uncertain significance (May 02, 2024)
14-61727495-A-G		not specified	Uncertain significance (Jul 11, 2022)
14-61727515-G-A			Benign (Apr 10, 2018)
14-61727521-G-A			Benign (Nov 30, 2023)
14-61727526-C-T		Enchondromatosis	Likely pathogenic (-)
14-61727582-G-A		Malignant tumor of prostate	Uncertain significance (-)
14-61727604-C-A			Uncertain significance (Jan 01, 2023)
14-61727650-T-C			Benign (Jun 14, 2018)
14-61732415-C-T			Likely benign (Mar 22, 2023)
14-61732424-C-T			Benign (Apr 10, 2018)
14-61732425-G-A		not specified	Uncertain significance (Nov 13, 2023)
14-61732512-A-T		not specified	Uncertain significance (Feb 27, 2023)
14-61732540-G-T			Likely benign (Apr 01, 2023)
14-61734128-T-TC			Benign (Jun 14, 2018)
14-61736900-A-G		not specified	Uncertain significance (May 13, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP