SLC26A5-AS1

SLC26A5 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 7:103445207-103519026

Links

ENSG00000234715 ∙ NCBI:101927870 ∙ ∙ HGNC:55680 ∙ ∙ ∙ 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 SLC26A5-AS1 gene.

• Norman-Roberts syndrome;Familial temporal lobe epilepsy 7 (281 variants)
• not provided (182 variants)
• Familial temporal lobe epilepsy 7;Norman-Roberts syndrome (178 variants)
• Norman-Roberts syndrome (59 variants)
• not specified (46 variants)
• Inborn genetic diseases (24 variants)
• Familial temporal lobe epilepsy 7 (11 variants)
• Epilepsy, familial temporal lobe, 1;Norman-Roberts syndrome;Familial temporal lobe epilepsy 7 (5 variants)
• RELN-related condition (4 variants)
• Norman-Roberts syndrome;Epilepsy, familial temporal lobe, 1;Familial temporal lobe epilepsy 7 (4 variants)
• Epilepsy, familial temporal lobe, 1;Familial temporal lobe epilepsy 7;Norman-Roberts syndrome (3 variants)
• Childhood epilepsy with centrotemporal spikes (3 variants)
• Lissencephaly, Recessive (3 variants)
• See cases (2 variants)
• Seizure (2 variants)
• Norman-Roberts syndrome;Familial temporal lobe epilepsy 7;Epilepsy, familial temporal lobe, 1 (2 variants)
• RELN-related disorder (1 variants)
• Neurodevelopmental delay (1 variants)
• - (1 variants)
• Familial temporal lobe epilepsy 7;Epilepsy, familial temporal lobe, 1;Norman-Roberts syndrome (1 variants)
• Intellectual disability (1 variants)
• Lissencephaly (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC26A5-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	5	4	271	281	68	629
Total	5	4	271	281	68

Variants in SLC26A5-AS1

This is a list of pathogenic ClinVar variants found in the SLC26A5-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
7-103471955-A-G		Norman-Roberts syndrome	Uncertain significance (Jan 13, 2018)
7-103472005-ACT-A		Lissencephaly, Recessive	Uncertain significance (Jun 14, 2016)
7-103472152-G-T		Lissencephaly, Recessive	Uncertain significance (Jun 14, 2016)
7-103472236-C-T		Norman-Roberts syndrome	Likely benign (Jan 13, 2018)
7-103472249-G-T		Norman-Roberts syndrome	Benign (Jan 13, 2018)
7-103472286-T-C		Norman-Roberts syndrome	Uncertain significance (Jan 13, 2018)
7-103472325-G-A		Norman-Roberts syndrome	Uncertain significance (Jan 12, 2018)
7-103472415-C-T		Norman-Roberts syndrome	Benign (Jan 12, 2018)
7-103472438-C-G		Norman-Roberts syndrome	Uncertain significance (Jan 13, 2018)
7-103472549-A-G		Norman-Roberts syndrome	Uncertain significance (Jan 13, 2018)
7-103472661-A-G		Norman-Roberts syndrome	Benign (Jun 26, 2018)
7-103472676-C-T		Norman-Roberts syndrome	Uncertain significance (Jan 12, 2018)
7-103472677-G-A		Norman-Roberts syndrome	Uncertain significance (Jan 13, 2018)
7-103472703-C-T		Norman-Roberts syndrome	Uncertain significance (Jan 12, 2018)
7-103472718-A-G		Norman-Roberts syndrome	Uncertain significance (Jan 13, 2018)
7-103472730-A-G		Norman-Roberts syndrome	Uncertain significance (Jan 13, 2018)
7-103472731-T-C		Norman-Roberts syndrome	Uncertain significance (Jan 13, 2018)
7-103472744-G-A		Norman-Roberts syndrome	Uncertain significance (Jan 13, 2018)
7-103472745-C-T		Norman-Roberts syndrome	Benign (Jul 27, 2018)
7-103472775-C-T		Norman-Roberts syndrome	Uncertain significance (Jan 12, 2018)
7-103472814-A-G		Familial temporal lobe epilepsy 7;Norman-Roberts syndrome	Uncertain significance (Sep 14, 2023)
7-103472822-C-T		Norman-Roberts syndrome;Familial temporal lobe epilepsy 7	Uncertain significance (Jul 10, 2023)
7-103472823-G-A		Norman-Roberts syndrome;Familial temporal lobe epilepsy 7	Uncertain significance (Jul 26, 2022)
7-103472827-A-G		Norman-Roberts syndrome;Familial temporal lobe epilepsy 7	Likely benign (Mar 19, 2022)
7-103472837-C-T		Norman-Roberts syndrome;Familial temporal lobe epilepsy 7 • Inborn genetic diseases	Uncertain significance (Dec 21, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP