CACNA1C-AS1

CACNA1C antisense RNA 1, the group of Antisense RNAs

Basic information

Links

ENSG00000246627 ∙ ∙ ∙ HGNC:40119 ∙ ∙ ∙ 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 CACNA1C-AS1 gene.

• Long QT syndrome (588 variants)
• Cardiovascular phenotype (247 variants)
• not provided (180 variants)
• not specified (78 variants)
• Timothy syndrome (28 variants)
• History of neurodevelopmental disorder (19 variants)
• Brugada syndrome 3;Long qt syndrome 8;Timothy syndrome (17 variants)
• CACNA1C-related condition (9 variants)
• Timothy syndrome;Brugada syndrome 3;Long qt syndrome 8 (9 variants)
• Brugada syndrome (8 variants)
• Inborn genetic diseases (6 variants)
• Timothy syndrome;Long qt syndrome 8;Brugada syndrome 3 (6 variants)
• Brugada syndrome 3;Timothy syndrome (5 variants)
• Long qt syndrome 8 (5 variants)
• Cardiac arrhythmia (4 variants)
• Brugada syndrome 3;Timothy syndrome;Long qt syndrome 8 (4 variants)
• Long qt syndrome 8;Brugada syndrome 3;Timothy syndrome (4 variants)
• Brugada syndrome (shorter-than-normal QT interval) (2 variants)
• Arrhythmogenic right ventricular cardiomyopathy (1 variants)
• Cardiomyopathy (1 variants)
• Ductal breast carcinoma (1 variants)
• See cases (1 variants)
• Restrictive cardiomyopathy;Long QT syndrome (1 variants)
• Brugada syndrome 3 (1 variants)
• Brugada syndrome 3;Long qt syndrome 8;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Timothy syndrome (1 variants)
• Primary dilated cardiomyopathy (1 variants)
• Ventricular tachycardia (1 variants)
• Sudden cardiac death (1 variants)
• Long qt syndrome 8;Timothy syndrome;Brugada syndrome 3 (1 variants)
• Brugada syndrome 3;Timothy syndrome;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Long qt syndrome 8 (1 variants)
• Short QT syndrome (1 variants)
• Hypertrophic cardiomyopathy (1 variants)
• Catecholaminergic polymorphic ventricular tachycardia (1 variants)
• Long qt syndrome 8;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures;Timothy syndrome (1 variants)
• Pyloric stenosis;Esophageal atresia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CACNA1C-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)			2	5		7
splice region						0
non coding	3		330	332	51	716
Total	3	0	332	337	51

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP