SLC1A2-AS1

SLC1A2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 11:35237969-35286202

Links

ENSG00000255004 ∙ NCBI:107984324 ∙ ∙ HGNC:40534 ∙ ∙ ∙ 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 SLC1A2-AS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC1A2-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						0
Total	0	0	0	0	0

Variants in SLC1A2-AS1

This is a list of pathogenic ClinVar variants found in the SLC1A2-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
11-35260895-T-A			Uncertain significance (Nov 30, 2023)
11-35260900-C-T			Likely benign (Jul 13, 2023)
11-35260903-A-G			Likely benign (May 22, 2022)
11-35260904-C-T		Developmental and epileptic encephalopathy, 41	Conflicting classifications of pathogenicity (Oct 04, 2024)
11-35260905-G-A			Likely benign (Jul 15, 2024)
11-35260910-C-G			Uncertain significance (Nov 11, 2024)
11-35260912-A-T			Likely benign (Dec 16, 2024)
11-35260914-G-A			Likely benign (Jul 01, 2024)
11-35260917-C-A			Uncertain significance (Dec 22, 2024)
11-35260918-T-C			Likely benign (Mar 12, 2022)
11-35260920-C-T			Uncertain significance (Dec 02, 2024)
11-35260921-C-T		SLC1A2-related disorder	Benign (Feb 02, 2025)
11-35260922-T-C			Uncertain significance (Jul 30, 2024)
11-35260925-A-G			Benign (Mar 20, 2024)
11-35260926-C-T			Uncertain significance (Nov 18, 2024)
11-35260932-A-T		Inborn genetic diseases	Uncertain significance (Jan 11, 2024)
11-35260935-C-T		Developmental and epileptic encephalopathy, 41	Conflicting classifications of pathogenicity (Oct 25, 2024)
11-35260936-G-A			Likely benign (Jul 11, 2024)
11-35260939-T-C			Likely benign (Jan 17, 2024)
11-35260941-A-G			Uncertain significance (Jan 26, 2022)
11-35260944-T-G			Uncertain significance (Mar 16, 2024)
11-35260948-A-G			Likely benign (Aug 09, 2022)
11-35260949-T-C			Likely benign (Sep 10, 2024)
11-35260960-A-C			Likely benign (Dec 03, 2022)
11-35260963-T-C			Likely benign (Sep 24, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP