SLC26A5-AS1

SLC26A5 antisense RNA 1, the group of Antisense RNAs

Basic information

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 ? Intron variants in splice region, excluding donor/acceptor (+/-2bp)						0
non coding ? UTR, intron and other, non coding variants	5 clinvar	4 clinvar	271 clinvar	281 clinvar	68 clinvar	629
Total	5	4	271	281	68

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP