CACNA1C-AS3

CACNA1C antisense RNA 3, the group of Antisense RNAs

Basic information

Links

ENSG00000256769

∙ ∙ ∙ HGNC:40117 ∙ ∙ ∙ 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-AS3 gene.

Long QT syndrome (99 variants)
not provided (33 variants)
Cardiovascular phenotype (32 variants)
not specified (11 variants)
Timothy syndrome (4 variants)
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures (3 variants)
Brugada syndrome 3;Long qt syndrome 8;Timothy syndrome (2 variants)
Timothy syndrome;Long qt syndrome 8;Brugada syndrome 3 (2 variants)
History of neurodevelopmental disorder (2 variants)
Brugada syndrome (1 variants)
Long qt syndrome 8;Timothy syndrome;Brugada syndrome 3;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures (1 variants)
Long qt syndrome 8;Brugada syndrome 3;Timothy syndrome (1 variants)
Congestive heart failure (1 variants)
Long qt syndrome 8 (1 variants)
Sudden unexplained death (1 variants)
Inborn genetic diseases (1 variants)
See cases (1 variants)
Timothy syndrome;Brugada syndrome 3;Long qt syndrome 8 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CACNA1C-AS3 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		2 clinvar	45 clinvar	66 clinvar	11 clinvar	124
Total	0	2	45	66	11

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP