Detailed description page of humcfs

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Humcfs_231 details
Primary information
Humcfs IdHumcfs_231
chromosome_numberchromosome1
nameFRA1A
chrlocation1-28000000
cytoband1p36
typeAphidicolin
frequencyCommon
gene_ensembl_idENSG00000116688
gene_nameMFN2
havana_transcript_idOTTHUMT00000006863
gene_location11981992-11992673
gene_orientation+
exon_idENSE00001760578, ENSE00001622374, ENSE00003686591, ENSE00001800415
exon_number4
gene_descriptionmitofusin 2
disease_descriptionAdenoid Cystic Carcinoma,Osteosarcoma of bone,Optic Atrophy, Autosomal Dominant,Keratoderma with scleroatrophy of the extremities,Charcot-Marie-Tooth Disease,Huntington Disease,Abnormal breathing,Paresis,Depletion of mitochondrial DNA,Cardiomyopathies,Adenocarcinoma,Mitochondrial Respiratory Chain Deficiencies,Idiopathic pulmonary hypertension,Motor Neuron Disease,Malignant neoplasm of breast,Polyneuropathy,Breast Carcinoma,Glaucoma, Open-Angle,CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder),Atrophic,Neuroblastoma,Hereditary Neurodegenerative Disorder,Cardiomegaly,Amyotrophic Lateral Sclerosis,Heart failure,Glaucoma, Primary Open Angle,Sensory Disorders,Inherited neuropathies,Lesion of brain,Hodgkin Disease,Neurodegeneration with brain iron accumulation (NBIA),Multiple Sclerosis,Cardiomyopathy, Dilated,Optic Atrophies, Hereditary,Muscle Weakness,Cerebrovascular accident,Inherited Peripheral Neuropathy,Liver carcinoma,Charcot-Marie-Tooth disease, Type 2A,Central neuroblastoma,S
miRNA_locationNA
miRNA_strandNA
miRNA_idNA
miRNA_nameNA
miRNA_derived NA
TechniqueKaryotyping
PMID1322577
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