SLC38A4-AS1

SLC38A4 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 12:46383041-46876804

Links

ENSG00000257261 ∙ NCBI:100288798 ∙ ∙ HGNC:56178 ∙ ∙ ∙ 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 SLC38A4-AS1 gene.

• Inborn genetic diseases (12 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC38A4-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			10	2	1	13
Total	0	0	10	2	1

Variants in SLC38A4-AS1

This is a list of pathogenic ClinVar variants found in the SLC38A4-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
12-46766725-A-T		not specified	Uncertain significance (Jun 17, 2024)
12-46766756-A-G		not specified	Uncertain significance (Apr 15, 2024)
12-46766759-C-G		not specified	Uncertain significance (Oct 19, 2024)
12-46768314-A-G		not specified	Uncertain significance (Nov 25, 2024)
12-46768329-C-G		not specified	Uncertain significance (Oct 25, 2022)
12-46769332-C-T		not specified	Uncertain significance (Nov 20, 2023)
12-46769333-A-C		not specified	Uncertain significance (Sep 12, 2024)
12-46769388-G-C		not specified	Uncertain significance (Aug 12, 2022)
12-46769413-T-G		not specified	Uncertain significance (Oct 26, 2022)
12-46775108-T-C		not specified	Uncertain significance (Nov 20, 2023)
12-46775135-C-T		not specified	Uncertain significance (Jul 30, 2024)
12-46775165-C-T		not specified	Uncertain significance (Nov 09, 2024)
12-46776979-C-T		not specified	Uncertain significance (Jun 29, 2022)
12-46776996-C-T		not specified	Likely benign (Mar 07, 2023)
12-46778506-A-G		not specified	Uncertain significance (Mar 26, 2024)
12-46778539-C-T		not specified	Uncertain significance (Dec 16, 2023)
12-46778547-T-G		not specified	Uncertain significance (Sep 11, 2024)
12-46778571-T-C		not specified	Likely benign (Feb 27, 2023)
12-46778607-C-T		not specified	Uncertain significance (Apr 26, 2024)
12-46778649-T-A		not specified	Uncertain significance (Sep 17, 2021)
12-46778662-A-C		not specified	Uncertain significance (Mar 19, 2024)
12-46784569-C-A		not specified	Uncertain significance (Aug 16, 2021)
12-46788026-G-A			Benign (Mar 29, 2018)
12-46788529-T-A		not specified	Uncertain significance (Sep 22, 2023)
12-46788532-T-A		not specified	Uncertain significance (Oct 16, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP