SLC1A3-AS1

SLC1A3 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 5:36665895-36725218

Links

ENSG00000250155 ∙ NCBI:107986412 ∙ ∙ HGNC:56374 ∙ ∙ ∙ 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 SLC1A3-AS1 gene.

• not provided (121 variants)
• Episodic ataxia type 6 (81 variants)
• not specified (19 variants)
• Inborn genetic diseases (15 variants)
• Hereditary episodic ataxia (6 variants)
• Spastic ataxia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC1A3-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	2		94	45	50	191
Total	2	0	94	45	50

Variants in SLC1A3-AS1

This is a list of pathogenic ClinVar variants found in the SLC1A3-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
5-36670903-T-C			Benign (May 15, 2021)
5-36671010-T-G			Likely benign (May 12, 2022)
5-36671020-C-T			Likely benign (Oct 24, 2022)
5-36671022-C-T		Episodic ataxia type 6 • not specified	Benign (Feb 01, 2024)
5-36671025-C-A			Likely benign (Jul 19, 2022)
5-36671031-A-G			Uncertain significance (Aug 20, 2021)
5-36671038-C-T		Episodic ataxia type 6	Uncertain significance (Jun 18, 2020)
5-36671051-G-A		not specified • Episodic ataxia type 6	Benign/Likely benign (Jan 22, 2024)
5-36671058-G-A			Uncertain significance (Aug 14, 2023)
5-36671072-G-T			Uncertain significance (Jun 16, 2023)
5-36671079-G-A			Uncertain significance (Apr 20, 2022)
5-36671083-T-C		Episodic ataxia type 6	Uncertain significance (Sep 13, 2023)
5-36671098-C-G		Inborn genetic diseases	Uncertain significance (Jun 11, 2021)
5-36671105-C-T			Likely benign (Nov 14, 2022)
5-36671106-A-G			Uncertain significance (Dec 09, 2022)
5-36671107-T-C		Inborn genetic diseases	Uncertain significance (Oct 10, 2023)
5-36671119-T-C			Uncertain significance (Jun 04, 2019)
5-36671142-A-T			Uncertain significance (Oct 03, 2023)
5-36671145-C-T			Uncertain significance (May 26, 2022)
5-36671158-G-A			Uncertain significance (Nov 05, 2022)
5-36671168-A-T			Uncertain significance (Jul 05, 2022)
5-36671176-A-G		Inborn genetic diseases	Uncertain significance (Jun 28, 2022)
5-36671179-G-A			Uncertain significance (Feb 22, 2024)
5-36671185-G-A		Episodic ataxia type 6 • Inborn genetic diseases	Uncertain significance (Aug 02, 2023)
5-36671196-C-T			Uncertain significance (Sep 01, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP