chr12:1970772:> Detail (hg38)

Information

Genome

Assembly Position
hg19 chr12:2,079,938-2,807,116 
hg38 chr12:1,970,772-2,697,950

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 hypertrophic cardiomyopathy Mutational analysis of exon 12 of CACNA1C was completed on 5 additional patients... BeFree 26253506 Detail
<0.001 CNS disorder NA BeFree Detail
<0.001 cyclothymic disorder NA BeFree Detail
0.006 Mental Depression Here, we aimed to assess how recently associated PCLO and CACNA1C depression ris... BeFree,GAD 24643163 Detail
0.001 depressive disorder Here, we aimed to assess how recently associated PCLO and CACNA1C depression ris... BeFree 24643163 Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent NA BeFree Detail
<0.001 congenital heart defects Whole exome sequencing in combination with Ingenuity variant analysis was comple... BeFree 26253506 Detail
0.002 Heart Diseases NA GAD Detail
<0.001 Atrial Septal Defects NA BeFree Detail
0.003 Hyperparathyroidism, Secondary NA BeFree,GAD Detail
0.126 Hypertensive disease NA BeFree,CTD_human,GAD Detail
0.120 hypoglycemia NA CTD_human Detail
0.120 Immunologic Deficiency Syndromes NA CTD_human Detail
0.005 Inflammation NA GAD,LHGDN Detail
0.002 Inflammatory Bowel Diseases NA GAD Detail
<0.001 Polycystic Kidney Diseases NA BeFree Detail
<0.001 Language Delay NA BeFree Detail
0.122 long QT syndrome CACNA1C gene screening was performed in 278 probands negative for LQTS-related g... BeFree,CLINVAR 24728418 Detail
0.122 long QT syndrome Mutations in CACNA1C that increase current through the CaV1.2 L-type Ca2+ channe... BeFree,CLINVAR 25184293 Detail
0.122 long QT syndrome We conclude that genotype-negative LQTS patients should be investigated for muta... BeFree,CLINVAR 25633834 Detail
0.122 long QT syndrome Mutational analysis of exon 12 of CACNA1C was completed on 5 additional patients... BeFree,CLINVAR 26253506 Detail
<0.001 Malignant hyperpyrexia due to anesthesia NA BeFree Detail
<0.001 Mental Retardation NA BeFree Detail
0.002 myocardial infarction NA GAD Detail
0.002 narcolepsy NA GAD Detail
<0.001 nervous system disorder NA BeFree Detail
0.003 major depressive disorder The single nucleotide polymorphisms FKBP5:rs1360780, BDNF:rs6265 (Val66Met), P2R... BeFree 20226536 Detail
0.003 Unipolar Depression The single nucleotide polymorphisms FKBP5:rs1360780, BDNF:rs6265 (Val66Met), P2R... BeFree 20226536 Detail
<0.001 Parkinson disease In rodents, the characterisation of global and conditional isoform-specific knoc... BeFree 24996399 Detail
<0.001 Parkinson disease In primary motor cortex, the level of CaV1.2 mRNA increased in late-stage Parkin... BeFree 25173401 Detail
0.002 Psychotic Disorders Hippocampal and frontolimbic function as intermediate phenotype for psychosis: e... BeFree 24411473 Detail
0.002 Psychotic Disorders Impaired reward processing may be a transdiagnostic phenotype of variation in CA... BeFree 25290268 Detail
<0.001 substance dependence With regard to the molecular mechanisms underlying drug addiction, Cav1.3 channe... BeFree 24996399 Detail
<0.001 syndactyly NA BeFree Detail
0.002 Tobacco use disorder NA GAD Detail
<0.001 Attention Deficit Disorder NA BeFree Detail
0.003 Sudden cardiac death NA LHGDN Detail
<0.001 essential hypertension NA BeFree Detail
<0.001 Depressive Symptoms NA BeFree Detail
<0.001 Migraine Disorders NA BeFree Detail
<0.001 Feeling powerless NA BeFree Detail
<0.001 Recurrent major depressive episodes NA BeFree Detail
<0.001 Anhedonia Impaired reward processing may be a transdiagnostic phenotype of variation in CA... BeFree 25290268 Detail
0.120 Limb Deformities, Congenital NA CTD_human Detail
<0.001 age related macular degeneration This ligand-to-targetto DNA sequence variant-to disease approach provided guidan... BeFree 25109799 Detail
<0.001 Simple renal cyst NA BeFree Detail
<0.001 Common Migraine NA BeFree Detail
<0.001 familial hemiplegic migraine NA BeFree Detail
<0.001 Congenital deafness Individually, CACNA1C polymorphisms and CACNA1D variants have been linked to a v... BeFree 24996399 Detail
0.001 Nonorganic psychosis Hippocampal and frontolimbic function as intermediate phenotype for psychosis: e... BeFree 24411473 Detail
<0.001 Craniofacial Abnormalities NA BeFree Detail
<0.001 Dysmorphic features Gain-of-function mutations in CACNA1C, encoding the L-type Ca(2+) channel Cav1.2... BeFree 25633834 Detail
<0.001 Dissecting aneurysm of the thoracic aorta Transcripts for the L-type calcium channel gene CACNA1C were consistently detect... BeFree 25172950 Detail
0.245 Brugada Syndrome (disorder) We report a rare CACNA1C mutation as causing BrS and/or shortened QT interval in... BeFree,CLINVAR,LHGDN,ORPHANET 25341504 Detail
<0.001 Conn Syndrome NA BeFree Detail
<0.001 drug dependence With regard to the molecular mechanisms underlying drug addiction, Cav1.3 channe... BeFree 24996399 Detail
<0.001 Autism Spectrum Disorders Gain-of-function mutations in CACNA1C, encoding the L-type Ca(2+) channel Cav1.2... BeFree 25633834 Detail
<0.001 Channelopathies NA BeFree Detail
0.566 Timothy syndrome Timothy Syndrome (TS) is caused by very rare exonic mutations of the CACNA1C gen... BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT 23979604 Detail
0.566 Timothy syndrome This study aimed to elucidate the frequency of CACNA1C mutations in patients wit... BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT 24728418 Detail
0.566 Timothy syndrome Timothy syndrome is an autosomal dominant condition characterized by a de novo m... BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT 24960393 Detail
0.566 Timothy syndrome Mutations in CACNA1C that increase current through the CaV1.2 L-type Ca2+ channe... BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT 25184293 Detail
0.566 Timothy syndrome Novel Timothy syndrome mutation leading to increase in CACNA1C window current. BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT 25260352 Detail
0.566 Timothy syndrome Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syn... BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT 25633834 Detail
0.566 Timothy syndrome Through whole exome sequencing and expanded cohort screening, we identified a no... BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT 26253506 Detail
<0.001 Recurrent infections (sinusitis and bacterial pneumonia and meningitis) NA BeFree Detail
<0.001 Early repolarization associated with ventricular fibrillation NA BeFree Detail
0.003 Infection NA LHGDN Detail
<0.001 Hypokalemic periodic paralysis type 1 NA BeFree Detail
0.002 Alcoholic Intoxication, Chronic NA GAD Detail
<0.001 Anxiety Disorders NA BeFree Detail
0.120 Cardiac arrhythmia NA CTD_human Detail
0.003 atherosclerosis NA LHGDN Detail
0.121 autistic disorder NA BeFree,CTD_human Detail
0.005 Mental disorders Our findings implicate abnormal perigenual and hippocampal activation as a promi... BeFree,GAD 24411473 Detail
0.005 Mental disorders Individually, CACNA1C polymorphisms and CACNA1D variants have been linked to a v... BeFree,GAD 24996399 Detail
<0.001 Depression, Bipolar NA BeFree Detail
<0.001 bronchitis NA BeFree Detail
0.001 bronchopulmonary dysplasia NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
Mutational analysis of exon 12 of CACNA1C was completed on 5 additional patients with a similar phen... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Here, we aimed to assess how recently associated PCLO and CACNA1C depression risk alleles jointly af... DisGeNET Detail
Here, we aimed to assess how recently associated PCLO and CACNA1C depression risk alleles jointly af... DisGeNET Detail
NA DisGeNET Detail
Whole exome sequencing in combination with Ingenuity variant analysis was completed on 3 affected in... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
CACNA1C gene screening was performed in 278 probands negative for LQTS-related gene mutations. DisGeNET Detail
Mutations in CACNA1C that increase current through the CaV1.2 L-type Ca2+ channel underlie rare form... DisGeNET Detail
We conclude that genotype-negative LQTS patients should be investigated for mutations in CACNA1C, as... DisGeNET Detail
Mutational analysis of exon 12 of CACNA1C was completed on 5 additional patients with a similar phen... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The single nucleotide polymorphisms FKBP5:rs1360780, BDNF:rs6265 (Val66Met), P2RX7:2230912 (Gln460Ar... DisGeNET Detail
The single nucleotide polymorphisms FKBP5:rs1360780, BDNF:rs6265 (Val66Met), P2RX7:2230912 (Gln460Ar... DisGeNET Detail
In rodents, the characterisation of global and conditional isoform-specific knockouts suggests a con... DisGeNET Detail
In primary motor cortex, the level of CaV1.2 mRNA increased in late-stage Parkinson's disease. DisGeNET Detail
Hippocampal and frontolimbic function as intermediate phenotype for psychosis: evidence from healthy... DisGeNET Detail
Impaired reward processing may be a transdiagnostic phenotype of variation in CACNA1C that could con... DisGeNET Detail
With regard to the molecular mechanisms underlying drug addiction, Cav1.3 channels are necessary for... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Impaired reward processing may be a transdiagnostic phenotype of variation in CACNA1C that could con... DisGeNET Detail
NA DisGeNET Detail
This ligand-to-targetto DNA sequence variant-to disease approach provided guidance on rational desig... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Individually, CACNA1C polymorphisms and CACNA1D variants have been linked to a variety of psychiatri... DisGeNET Detail
Hippocampal and frontolimbic function as intermediate phenotype for psychosis: evidence from healthy... DisGeNET Detail
NA DisGeNET Detail
Gain-of-function mutations in CACNA1C, encoding the L-type Ca(2+) channel Cav1.2, cause Timothy synd... DisGeNET Detail
Transcripts for the L-type calcium channel gene CACNA1C were consistently detected from human thorac... DisGeNET Detail
We report a rare CACNA1C mutation as causing BrS and/or shortened QT interval in a family also carry... DisGeNET Detail
NA DisGeNET Detail
With regard to the molecular mechanisms underlying drug addiction, Cav1.3 channels are necessary for... DisGeNET Detail
Gain-of-function mutations in CACNA1C, encoding the L-type Ca(2+) channel Cav1.2, cause Timothy synd... DisGeNET Detail
NA DisGeNET Detail
Timothy Syndrome (TS) is caused by very rare exonic mutations of the CACNA1C gene that produce delay... DisGeNET Detail
This study aimed to elucidate the frequency of CACNA1C mutations in patients with long QT syndrome (... DisGeNET Detail
Timothy syndrome is an autosomal dominant condition characterized by a de novo missense mutation in ... DisGeNET Detail
Mutations in CACNA1C that increase current through the CaV1.2 L-type Ca2+ channel underlie rare form... DisGeNET Detail
Novel Timothy syndrome mutation leading to increase in CACNA1C window current. DisGeNET Detail
Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but n... DisGeNET Detail
Through whole exome sequencing and expanded cohort screening, we identified a novel genetic substrat... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Our findings implicate abnormal perigenual and hippocampal activation as a promising intermediate ph... DisGeNET Detail
Individually, CACNA1C polymorphisms and CACNA1D variants have been linked to a variety of psychiatri... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs386602118 dbSNP
Genome
hg38
Position
chr12:1,970,772-2,697,950
Variant Type
snv
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