SLC26A4-AS1

SLC26A4 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 7:107650260-107662204

Links

ENSG00000233705 ∙ NCBI:286002 ∙ ∙ HGNC:22385 ∙ ∙ ∙ 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 SLC26A4-AS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC26A4-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			9	3	2	14
Total	0	0	9	3	2

Variants in SLC26A4-AS1

This is a list of pathogenic ClinVar variants found in the SLC26A4-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
7-107660670-A-T		not specified • Pendred syndrome • Autosomal recessive nonsyndromic hearing loss 4	Uncertain significance (Sep 05, 2021)
7-107660673-A-G		Autosomal recessive nonsyndromic hearing loss 4 • Pendred syndrome	Uncertain significance (Jan 13, 2018)
7-107660702-G-A		not specified	Uncertain significance (Jun 22, 2017)
7-107660715-C-T		not specified	Uncertain significance (Mar 31, 2021)
7-107660720-C-T		Pendred syndrome • not specified • Autosomal recessive nonsyndromic hearing loss 4	Uncertain significance (Sep 05, 2021)
7-107660756-T-C		Pendred syndrome • Autosomal recessive nonsyndromic hearing loss 4 • not specified • Hearing impairment • SLC26A4-related disorder	Uncertain significance (Jan 17, 2024)
7-107660793-C-G		not specified • Autosomal recessive nonsyndromic hearing loss 4 • Pendred syndrome	Benign/Likely benign (Apr 27, 2017)
7-107660793-C-T		not specified	Conflicting classifications of pathogenicity (Oct 26, 2023)
7-107660799-A-G		not specified • SLC26A4-related disorder	Conflicting classifications of pathogenicity (Sep 15, 2023)
7-107660808-G-A			Uncertain significance (Jun 07, 2022)
7-107660819-C-T		Autosomal recessive nonsyndromic hearing loss 4 • Pendred syndrome	Uncertain significance (Jan 13, 2018)
7-107660851-G-A		Pendred syndrome • Autosomal recessive nonsyndromic hearing loss 4	Uncertain significance (Sep 05, 2021)
7-107660860-G-A		Rare genetic deafness • not specified • Autosomal recessive nonsyndromic hearing loss 4 • SLC26A4-related disorder	Conflicting classifications of pathogenicity (Mar 24, 2023)
7-107660860-G-C			Uncertain significance (Sep 05, 2024)
7-107660945-T-G			Benign (Dec 10, 2018)
7-107661378-C-T			Likely benign (Dec 24, 2018)
7-107661444-C-T			Likely benign (Dec 22, 2018)
7-107661524-A-AG			Likely benign (Jul 22, 2020)
7-107661637-A-G		Pendred syndrome;Autosomal recessive nonsyndromic hearing loss 4 • Pendred syndrome • Rare genetic deafness • Autosomal recessive nonsyndromic hearing loss 4 • SLC26A4-related disorder	Pathogenic/Likely pathogenic (Oct 17, 2024)
7-107661637-A-T		Autosomal recessive nonsyndromic hearing loss 4	Pathogenic (Jan 09, 2025)
7-107661643-T-C		Rare genetic deafness • Pendred syndrome • Autosomal recessive nonsyndromic hearing loss 4 • SLC26A4-related disorder	Pathogenic (Jan 27, 2025)
7-107661643-T-G			Pathogenic/Likely pathogenic (Mar 22, 2023)
7-107661644-G-A		Autosomal recessive nonsyndromic hearing loss 4	Pathogenic (-)
7-107661644-G-C		Pendred syndrome	Pathogenic/Likely pathogenic (Dec 15, 2024)
7-107661650-G-A			Likely benign (Feb 16, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP