ASAH1-AS1

ASAH1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 8:18084236-18127404

Links

ENSG00000245281 ∙ NCBI:101929066 ∙ ∙ HGNC:55603 ∙ ∙ ∙ 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 ASAH1-AS1 gene.

• not provided (15 variants)
• Inborn genetic diseases (2 variants)
• not specified (1 variants)
• Childhood epilepsy with centrotemporal spikes (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ASAH1-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)				1		1
splice region						0
non coding			4	4	8	16
Total	0	0	4	5	8

Variants in ASAH1-AS1

This is a list of pathogenic ClinVar variants found in the ASAH1-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
8-18084277-T-A		Farber lipogranulomatosis • Farber lipogranulomatosis;Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	Uncertain significance (Jan 10, 2022)
8-18084285-A-C		Farber lipogranulomatosis	Benign/Likely benign (Jul 15, 2018)
8-18084296-G-A		Farber lipogranulomatosis	Benign/Likely benign (Jul 15, 2018)
8-18084301-T-G			Likely benign (Jun 27, 2019)
8-18084305-G-C		Farber lipogranulomatosis	Uncertain significance (Jun 14, 2016)
8-18084412-G-C			Benign (Jun 28, 2018)
8-18084512-T-C			Benign (Aug 07, 2018)
8-18084530-C-T			Benign (Jul 15, 2018)
8-18084559-C-G			Likely benign (May 18, 2019)
8-18084625-A-G			Benign (Jun 28, 2018)
8-18084671-C-A		Inborn genetic diseases	Uncertain significance (Feb 15, 2022)
8-18084687-CAGCAAAG-C		not specified	Conflicting classifications of pathogenicity (Oct 24, 2024)
8-18084695-C-T			Benign (Jul 15, 2018)
8-18084701-A-G		Inborn genetic diseases	Uncertain significance (May 02, 2022)
8-18084711-T-C		ASAH1-related disorders	Likely benign (May 07, 2019)
8-18084755-C-G			Uncertain significance (Nov 01, 2016)
8-18084764-C-T		ASAH1-related disorders	Likely benign (Nov 08, 2019)
8-18084767-C-G		Childhood epilepsy with centrotemporal spikes • not specified	Benign/Likely benign (Nov 01, 2023)
8-18084790-G-A		ASAH1-related disorders	Likely benign (Jan 08, 2024)
8-18084823-A-G			Benign (Jun 28, 2018)
8-18085214-CTTT-C			Benign (Aug 10, 2019)
8-18085242-G-T			Likely benign (Aug 03, 2018)
8-18085340-T-C			Benign (Jul 15, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP