HEXA-AS1

HEXA antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 15:72376051-72379899

Previous symbols: [ "C15orf34" ]

Links

ENSG00000260339 ∙ NCBI:80072 ∙ ∙ HGNC:25810 ∙ Uniprot:Q9H8Q6 ∙ 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 HEXA-AS1 gene.

• Tay-Sachs disease (6 variants)
• not specified (5 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HEXA-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		1	8	1	2	12
Total	0	1	8	1	2

Variants in HEXA-AS1

This is a list of pathogenic ClinVar variants found in the HEXA-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
15-72376108-C-T		Tay-Sachs disease	Uncertain significance (Jun 14, 2016)
15-72376113-C-T		Tay-Sachs disease	Uncertain significance (Jun 14, 2016)
15-72376139-C-T		Tay-Sachs disease	Conflicting classifications of pathogenicity (Jan 20, 2019)
15-72376153-A-G		Tay-Sachs disease	Uncertain significance (Jun 14, 2016)
15-72376179-T-C		Tay-Sachs disease	Uncertain significance (Jun 14, 2016)
15-72376198-T-C			Benign (Jun 19, 2018)
15-72376565-A-G		not specified	Uncertain significance (Jun 29, 2022)
15-72376740-T-C		not specified	Uncertain significance (Jun 29, 2022)
15-72376870-T-A		not specified	Uncertain significance (Jan 15, 2022)
15-72378313-CTT-C		not specified	Uncertain significance (Jun 29, 2022)
15-72378495-A-G		not specified	Benign (Mar 08, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP