SLC2A9-AS1

SLC2A9 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 4:10006478-10073508

Links

ENSG00000250413 ∙ NCBI:105374476 ∙ ∙ HGNC:40636 ∙ ∙ ∙ 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 SLC2A9-AS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC2A9-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 SLC2A9-AS1

This is a list of pathogenic ClinVar variants found in the SLC2A9-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
4-10018856-C-T			Benign (Nov 12, 2018)
4-10018940-G-A		Hypouricemia, renal, 2	Benign (Jul 15, 2021)
4-10018956-G-C			Likely benign (Oct 13, 2023)
4-10018957-G-A			Likely benign (Sep 09, 2022)
4-10018964-C-A		Hypouricemia, renal, 2	Benign/Likely benign (Dec 21, 2023)
4-10018977-G-T		Dalmatian hypouricemia	Likely benign (Jun 14, 2016)
4-10018985-GC-AA			Uncertain significance (Mar 06, 2022)
4-10018997-G-A		Hypouricemia, renal, 2	Uncertain significance (Jan 13, 2018)
4-10019000-A-C		Hypouricemia, renal, 2 • SLC2A9-related disorder	Likely pathogenic (Nov 22, 2022)
4-10019011-G-A		SLC2A9-related disorder	Likely benign (Sep 04, 2019)
4-10019026-G-C		Hypouricemia, renal, 2	Benign/Likely benign (Nov 13, 2023)
4-10019038-C-A			Likely benign (Dec 29, 2022)
4-10019045-G-T		Inborn genetic diseases	Uncertain significance (Feb 06, 2024)
4-10019056-G-A			Likely benign (Dec 21, 2023)
4-10019056-G-C			Likely benign (Jul 02, 2018)
4-10019062-G-A			Benign (Sep 23, 2023)
4-10019063-C-G		Inborn genetic diseases	Uncertain significance (Jun 12, 2023)
4-10019069-CA-TG		SLC2A9-related disorder	Uncertain significance (Sep 19, 2022)
4-10019070-A-T			Uncertain significance (Jul 26, 2021)
4-10019133-A-G			Benign (Nov 12, 2018)
4-10021215-G-A			Benign (Nov 12, 2018)
4-10021256-T-C			Benign (Feb 18, 2020)
4-10021264-A-G			Likely benign (Jun 09, 2023)
4-10021265-G-C			Likely benign (Jul 29, 2023)
4-10021271-C-T		Hypouricemia, renal, 2	Benign/Likely benign (Jan 31, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP