Detailed description page of humcfs

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Humcfs_4675 details
Primary information
Humcfs IdHumcfs_4675
chromosome_numberchromosome19
nameFRA19B
chrlocation1-20000000
cytoband19p13
typeFolic acid
frequencyRare
gene_ensembl_idENSG00000141837
gene_nameCACNA1A
havana_transcript_idOTTHUMT00000453122
gene_location13206494-13257400
gene_orientation-
exon_idENSE00002941416, ENSE00001484008, ENSE00001718135, ENSE00001764936, ENSE00001713609, ENSE00001667089, ENSE00001738902, ENSE00001686137, ENSE00001703840, ENSE00001595356, ENSE00003538203, ENSE000035120
exon_number19
gene_descriptioncalcium channel, voltage-dependent, P/Q type, alpha 1A subunit
disease_descriptionHemiplegic migraine, familial type 1,Comatose,Migrainous vertigo,Exfoliation Syndrome,Vertical Nystagmus,Genomic Instability,Tremor,Spastic Paraplegia, Hereditary,Abdominal Pain,Guillain-Barre Syndrome,Neurodegenerative Disorders,Hemiplegia, Crossed,Dystonia,Ophthalmoparesis,Epilepsy, Generalized,Intellectual Disability,Tobacco Use Disorder,Seizures,Migraine with Aura,Huntington Disease,Prostate carcinoma,Lung Neoplasms,Headache,Senile cardiac amyloidosis,Carcinoma of bladder,Torticollis,Absence Epilepsy,MIGRAINE, FAMILIAL HEMIPLEGIC, 2,Cerebellar Diseases,Cerebellar atrophy,Episodic ataxia type 2 (disorder),Infantile Severe Myoclonic Epilepsy,Alzheimer's Disease,Channelopathies,Hemiplegia,Familial Hemiplegic Migraine,Cerebellar Ataxia,Muscle Weakness,Migraine Disorders,Prostate cancer, familial,Spinocerebellar Ataxia Type 1,Spinocerebellar Ataxia Type 2,AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED,Olivopontocerebellar Atrophies,Cardiac Arrest,Neoplasm Metastasis,Idiopathic generaliz
miRNA_location12787132-12787151
miRNA_strand+
miRNA_idMIMAT0022473
miRNA_namehsa-miR-5684
miRNA_derived MI0019285
TechniqueFISH
PMID3568428
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