chr19:13206442:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:13,317,256-13,735,303 |
| hg38 | chr19:13,206,442-13,624,489 |
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 |
|---|---|---|---|---|---|
| 0.013 | cerebellar ataxia | NA | BeFree,GAD,LHGDN | Detail | |
| 0.005 | Cerebellar Diseases | NA | BeFree,LHGDN | Detail | |
| <0.001 | Cluster Headache | NA | BeFree | Detail | |
| 0.003 | Comatose | NA | LHGDN | Detail | |
| 0.575 | Episodic ataxia type 2 (disorder) | NA | CLINVAR | Detail | |
| 0.455 | Spinocerebellar Ataxia Type 6 (disorder) | NA | CLINVAR | Detail | |
| 0.455 | Spinocerebellar Ataxia Type 6 (disorder) | To describe a three generations family in which a spectrum of different phenotyp... | UNIPROT | 20682717 | Detail |
| 0.003 | dystonia | Mutations in HPCA cause autosomal-recessive primary isolated dystonia. | BeFree,LHGDN | 25799108 | Detail |
| 0.007 | epilepsy | NA | BeFree,GAD,LHGDN | Detail | |
| 0.003 | Epilepsy, Generalized | NA | BeFree,LHGDN | Detail | |
| 0.003 | Epilepsies, Myoclonic | NA | LHGDN | Detail | |
| 0.202 | absence epilepsy | Thus, the tottering-6j mouse is a useful model for studying Cav2.1 channel funct... | BeFree,CTD_human,RGD | 26002462 | Detail |
| 0.080 | Epilepsy, Temporal Lobe | NA | RGD | Detail | |
| 0.003 | Guillain-Barre syndrome | NA | LHGDN | Detail | |
| 0.003 | Headache | NA | BeFree,LHGDN | Detail | |
| 0.005 | cardiac arrest | We analyzed 10 families with SCA (64 patients) from five different communities o... | BeFree | 23368522 | Detail |
| 0.003 | hemiplegia | NA | BeFree,GAD | Detail | |
| <0.001 | Huntington disease | NA | BeFree | Detail | |
| <0.001 | Lethargy | NA | BeFree | Detail | |
| <0.001 | Lung Neoplasms | NA | BeFree | Detail | |
| 0.005 | Machado-Joseph disease | NA | BeFree,LHGDN | Detail | |
| <0.001 | Neoplasm Metastasis | NA | BeFree | Detail | |
| 0.002 | nervous system disorder | Familial hemiplegic migraine type 1, episodic ataxia type 2, and spinocerebellar... | BeFree | 25266619 | Detail |
| <0.001 | night blindness | NA | BeFree | Detail | |
| 0.002 | Nystagmus | NA | BeFree | Detail | |
| <0.001 | Olivopontocerebellar Atrophies | NA | BeFree | Detail | |
| <0.001 | Paresis | NA | BeFree | Detail | |
| 0.005 | Parkinson disease | SCA6 and SCA8 have also been reported with a PD-like phenotype. | BeFree,GAD | 25866756 | Detail |
| 0.005 | Parkinson disease | We aim to clarify the pathogenic role of intermediate size repeat expansions of ... | BeFree,GAD | 26354989 | Detail |
| <0.001 | Phenylketonurias | NA | BeFree | Detail | |
| 0.002 | restless legs syndrome | NA | GAD | Detail | |
| <0.001 | retinal degeneration | NA | BeFree | Detail | |
| <0.001 | retinitis pigmentosa | NA | BeFree | Detail | |
| 0.003 | schizophrenia | NA | BeFree,GAD | Detail | |
| 0.002 | Seizures | NA | BeFree | Detail | |
| <0.001 | Spastic Paraplegia, Hereditary | NA | BeFree | Detail | |
| 0.002 | Tobacco use disorder | NA | GAD | Detail | |
| <0.001 | Torticollis | NA | BeFree | Detail | |
| <0.001 | Tremor | NA | BeFree | Detail | |
| <0.001 | Vertigo | NA | BeFree | Detail | |
| 0.150 | Ataxia, Spinocerebellar | NA | BeFree,CTD_human,GAD,LHGDN | Detail | |
| 0.019 | Migraine Disorders | Mechanism underlying unaltered cortical inhibitory synaptic transmission in cont... | BeFree,GAD,LHGDN | 24907493 | Detail |
| <0.001 | Muscle Weakness | NA | BeFree | Detail | |
| <0.001 | Pleocytosis | NA | BeFree | Detail | |
| 0.016 | migraine with aura | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | Prion Diseases | NA | BeFree | Detail | |
| 0.001 | Ataxic | We previously showed that recessive ataxic tottering-6j mice carried a base subs... | BeFree | 26002462 | Detail |
| <0.001 | Neurologic Symptoms | NA | BeFree | Detail | |
| <0.001 | Cerebellar degeneration | NA | BeFree | Detail | |
| <0.001 | Senile cardiac amyloidosis | Patient 1 had mutations in transthyretin (TTR), fibrillin (FBN1), and a calcium ... | BeFree | 24664531 | Detail |
| <0.001 | Isovaleryl-CoA dehydrogenase deficiency | NA | BeFree | Detail | |
| <0.001 | Marie Cerebellar Ataxia | NA | BeFree | Detail | |
| <0.001 | idiopathic generalized epilepsy | NA | BeFree | Detail | |
| <0.001 | Basilar-Type Migraine | NA | BeFree | Detail | |
| 0.009 | Hemiplegic migraine | Congenital ataxia and hemiplegic migraine with cerebral edema associated with a ... | BeFree,GAD | 24836863 | Detail |
| <0.001 | Vertical Nystagmus | NA | BeFree | Detail | |
| <0.001 | Hemiplegia, Crossed | NA | BeFree | Detail | |
| <0.001 | spells (neurological symptom) | NA | BeFree | Detail | |
| 0.003 | Atrophic | NA | LHGDN | Detail | |
| 0.004 | Common Migraine | NA | BeFree,GAD | Detail | |
| 0.121 | alternating hemiplegia of childhood | NA | BeFree,ORPHANET | Detail | |
| <0.001 | Malignant neoplasm of prostate | NA | BeFree | Detail | |
| 0.001 | Progressive cerebellar ataxia | NA | BeFree | Detail | |
| 0.001 | Pallidoluysian degeneration | NA | BeFree | Detail | |
| <0.001 | Dystonia Disorders | Mutations in HPCA cause autosomal-recessive primary isolated dystonia. | BeFree | 25799108 | Detail |
| <0.001 | Migrainous vertigo | NA | BeFree | Detail | |
| 0.001 | Neurodegenerative Disorders | NA | BeFree | Detail | |
| <0.001 | prostate carcinoma | NA | BeFree | Detail | |
| <0.001 | Carcinoma of bladder | NA | BeFree | Detail | |
| 0.002 | Cerebellar atrophy | NA | BeFree | Detail | |
| <0.001 | Infantile Severe Myoclonic Epilepsy | NA | BeFree | Detail | |
| <0.001 | Ophthalmoparesis | SCA 6 was characterized by frequent occurrence of nystagmus and abnormal pursuit... | BeFree | 25259863 | Detail |
| <0.001 | Hyperphenylalaninaemia | NA | BeFree | Detail | |
| 0.003 | Myoclonic Epilepsies, Progressive | NA | LHGDN | Detail | |
| 0.002 | dentatorubral-pallidoluysian atrophy | NA | BeFree | Detail | |
| <0.001 | spinocerebellar ataxia type 1 | NA | BeFree | Detail | |
| <0.001 | spinocerebellar ataxia type 2 | NA | BeFree | Detail | |
| 0.455 | Spinocerebellar Ataxia Type 6 (disorder) | Mutations in the CACNA1A gene, encoding the α1 subunit of the voltage-gated calc... | BeFree,CLINVAR,GAD,MGD,ORPHANET,UNIPROT | 24836863 | Detail |
| 0.455 | Spinocerebellar Ataxia Type 6 (disorder) | One family with spinocerebellar ataxia type 6 and 2 families with other CACNA1A ... | BeFree,CLINVAR,GAD,MGD,ORPHANET,UNIPROT | 24898624 | Detail |
| 0.455 | Spinocerebellar Ataxia Type 6 (disorder) | Familial hemiplegic migraine type 1, episodic ataxia type 2, and spinocerebellar... | BeFree,CLINVAR,GAD,MGD,ORPHANET,UNIPROT | 25266619 | Detail |
| 0.455 | Spinocerebellar Ataxia Type 6 (disorder) | One hypothesis regarding SCA6 disease is that a CT fragment of the Cav2.1 channe... | BeFree,CLINVAR,GAD,MGD,ORPHANET,UNIPROT | 26063920 | Detail |
| 0.002 | Genomic Instability | NA | GAD | Detail | |
| 0.003 | brain edema | NA | LHGDN | Detail | |
| <0.001 | episodic ataxia type 1 | NA | BeFree | Detail | |
| 0.005 | episodic ataxia | These findings provide further evidence of this molecular mechanism as causative... | BeFree | 24836863 | Detail |
| 0.575 | Episodic ataxia type 2 (disorder) | Episodic ataxia type-2 (EA2) is a dominantly inherited human neurological disord... | BeFree,CLINVAR,CTD_human,GAD,MGD,ORPHANET,UNIPROT | 24768804 | Detail |
| 0.002 | Channelopathies | NA | BeFree | Detail | |
| 0.332 | Hemiplegic migraine, familial type 1 | We assessed the clinical features of both FHM families and performed direct sequ... | BeFree,CTD_human,MGD,UNIPROT | 24707016 | Detail |
| <0.001 | SPINOCEREBELLAR ATAXIA 26 | NA | BeFree | Detail | |
| <0.001 | Migraine, familial hemiplegic, 2 | NA | BeFree | Detail | |
| <0.001 | Familial migraine | NA | BeFree | Detail | |
| <0.001 | Episodic Ataxia, Type 7 | NA | BeFree | Detail | |
| <0.001 | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED | Patient 1 had mutations in transthyretin (TTR), fibrillin (FBN1), and a calcium ... | BeFree | 24664531 | Detail |
| <0.001 | Prostate cancer, familial | NA | BeFree | Detail | |
| 0.005 | intellectual disability | NA | LHGDN | Detail | |
| <0.001 | Abdominal Pain | NA | BeFree | Detail | |
| 0.002 | Alzheimer's disease | NA | GAD | Detail | |
| 0.142 | Ataxia | CACNA1A gene disorders present a variable familial phenotype of ataxia, migraine... | BeFree,CTD_human,GAD,LHGDN | 24898624 | Detail |
| <0.001 | bipolar disorder | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of urinary bladder | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| To describe a three generations family in which a spectrum of different phenotypes, ranging from SCA... | DisGeNET | Detail |
| Mutations in HPCA cause autosomal-recessive primary isolated dystonia. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Thus, the tottering-6j mouse is a useful model for studying Cav2.1 channel functions and Cacna1a-rel... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We analyzed 10 families with SCA (64 patients) from five different communities of Veracruz, a Mexica... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Familial hemiplegic migraine type 1, episodic ataxia type 2, and spinocerebellar ataxia type 6 are d... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| SCA6 and SCA8 have also been reported with a PD-like phenotype. | DisGeNET | Detail |
| We aim to clarify the pathogenic role of intermediate size repeat expansions of SCA2, SCA3, SCA6, an... | 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 |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Mechanism underlying unaltered cortical inhibitory synaptic transmission in contrast with enhanced e... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We previously showed that recessive ataxic tottering-6j mice carried a base substitution (C-to-A) in... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Patient 1 had mutations in transthyretin (TTR), fibrillin (FBN1), and a calcium channel (CACNA1A) ge... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of functi... | 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 |
| Mutations in HPCA cause autosomal-recessive primary isolated dystonia. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| SCA 6 was characterized by frequent occurrence of nystagmus and abnormal pursuit and rarity of slow ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Mutations in the CACNA1A gene, encoding the α1 subunit of the voltage-gated calcium channel Ca(V)2.1... | DisGeNET | Detail |
| One family with spinocerebellar ataxia type 6 and 2 families with other CACNA1A gene mutations were ... | DisGeNET | Detail |
| Familial hemiplegic migraine type 1, episodic ataxia type 2, and spinocerebellar ataxia type 6 are d... | DisGeNET | Detail |
| One hypothesis regarding SCA6 disease is that a CT fragment of the Cav2.1 channel, which is detected... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| These findings provide further evidence of this molecular mechanism as causative of FHM1 and expand ... | DisGeNET | Detail |
| Episodic ataxia type-2 (EA2) is a dominantly inherited human neurological disorder caused by loss of... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We assessed the clinical features of both FHM families and performed direct sequencing of all coding... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Patient 1 had mutations in transthyretin (TTR), fibrillin (FBN1), and a calcium channel (CACNA1A) ge... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| CACNA1A gene disorders present a variable familial phenotype of ataxia, migraine with aura, and/or h... | 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
- rs1219082456Spinocerebellar dbSNP
- Genome
- hg38
- Position
- chr19:13,206,442-13,624,489
- Variant Type
- snv
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