SLC26A4-AS1

SLC26A4 antisense RNA 1, the group of Antisense RNAs

Basic information

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.

not provided (65 variants)
Pendred syndrome (31 variants)
Autosomal recessive nonsyndromic hearing loss 4 (28 variants)
not specified (18 variants)
Rare genetic deafness (7 variants)
Hearing loss, autosomal recessive (3 variants)
SLC26A4-related condition (3 variants)
SLC26A4-Related Disorders (2 variants)
Deafness (2 variants)
Inborn genetic diseases (2 variants)
Autosomal recessive nonsyndromic hearing loss 4;Pendred syndrome (2 variants)
Pendred syndrome;Autosomal recessive nonsyndromic hearing loss 4 (2 variants)
SLC26A4-related disorder (1 variants)
Hearing impairment (1 variants)
Wolff-Parkinson-White pattern (1 variants)

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)				1 clinvar		1
splice region ? Intron variants in splice region, excluding donor/acceptor (+/-2bp)						0
non coding ? UTR, intron and other, non coding variants	12 clinvar	20 clinvar	21 clinvar	34 clinvar	4 clinvar	91
Total	12	20	21	35	4

Highest pathogenic variant AF is 0.0000788

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP