KCNQ1-AS1

KCNQ1 antisense RNA 1, the group of Antisense RNAs

Basic information

Links

ENSG00000229414 ∙ NCBI:338653 ∙ ∙ HGNC:42790 ∙ ∙ ∙ 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 KCNQ1-AS1 gene.

• Long QT syndrome (107 variants)
• Cardiac arrhythmia (62 variants)
• Long QT syndrome 1 (57 variants)
• not provided (54 variants)
• Congenital long QT syndrome (52 variants)
• Cardiovascular phenotype (52 variants)
• Jervell and Lange-Nielsen syndrome 1 (52 variants)
• Short QT syndrome type 2 (50 variants)
• Atrial fibrillation, familial, 3 (49 variants)
• not specified (22 variants)
• Jervell and Lange-Nielsen syndrome (12 variants)
• Short QT syndrome (12 variants)
• Familial atrial fibrillation (12 variants)
• Short QT syndrome type 2;Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1 (2 variants)
• Jervell and Lange-Nielsen syndrome 1;Long QT syndrome 1;Short QT syndrome type 2;Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome (2 variants)
• Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1 (1 variants)
• Jervell and Lange-Nielsen syndrome 1;Long QT syndrome 1;Short QT syndrome type 2;Atrial fibrillation, familial, 3 (1 variants)
• Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3;Long QT syndrome 1;Short QT syndrome type 2;Beckwith-Wiedemann syndrome (1 variants)
• KCNQ1-Related Disorders (1 variants)
• Jervell and Lange-Nielsen syndrome 1;Short QT syndrome type 2;Long QT syndrome 1;Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome (1 variants)
• Jervell and Lange-Nielsen syndrome 1;Beckwith-Wiedemann syndrome;Short QT syndrome type 2;Atrial fibrillation, familial, 3;Long QT syndrome 1 (1 variants)
• Brugada syndrome (1 variants)
• Polymorphic ventricular tachycardia (1 variants)
• Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome;Short QT syndrome type 2;Long QT syndrome 1 (1 variants)
• Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome;Short QT syndrome type 2;Long QT syndrome 1;Jervell and Lange-Nielsen syndrome 1 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCNQ1-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	2	7	97	77	12	195
Total	2	7	97	77	12

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP