SLC18A2-AS1

SLC18A2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 10:117238762-117242032

Links

ENSG00000225936 ∙ NCBI:105378500 ∙ ∙ HGNC:55843 ∙ ∙ ∙ 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 SLC18A2-AS1 gene.

• not provided (17 variants)
• Parkinsonism-dystonia, infantile, 2 (2 variants)
• Inborn genetic diseases (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC18A2-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		2
splice region						0
non coding			7	6	2	15
Total	0	0	8	7	2

Variants in SLC18A2-AS1

This is a list of pathogenic ClinVar variants found in the SLC18A2-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
10-117241444-G-A			Benign (May 22, 2021)
10-117241640-A-C		Brain dopamine-serotonin vesicular transport disease	Benign (Jul 15, 2021)
10-117241702-G-A			Likely benign (May 14, 2018)
10-117241706-G-A			Uncertain significance (Jan 31, 2022)
10-117241713-C-T			Uncertain significance (Oct 13, 2022)
10-117241720-C-T			Likely benign (Dec 09, 2023)
10-117241721-C-G			Uncertain significance (Aug 31, 2021)
10-117241726-G-A		Brain dopamine-serotonin vesicular transport disease	Uncertain significance (Dec 17, 2019)
10-117241736-AGCCGCCGCTC-A			Pathogenic (Oct 31, 2022)
10-117241738-C-A		Inborn genetic diseases	Uncertain significance (Dec 01, 2022)
10-117241742-C-T		Inborn genetic diseases	Uncertain significance (Apr 26, 2023)
10-117241744-C-G			Likely benign (May 11, 2023)
10-117241774-C-T			Likely benign (Jul 17, 2023)
10-117241786-G-A			Likely benign (Dec 13, 2023)
10-117241791-A-C			Uncertain significance (Sep 13, 2022)
10-117241800-T-C			Uncertain significance (Oct 13, 2023)
10-117241804-C-T			Likely benign (May 04, 2018)
10-117241810-C-A			Likely benign (Jun 15, 2023)
10-117241827-A-G			Likely benign (Jun 26, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP