Detailed description page of humcfs

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Humcfs_3918 details
Primary information
Humcfs IdHumcfs_3918
chromosome_numberchromosome17
nameFRA17A
chrlocation10700001-16000000
cytoband17p12
typeDistamycinA
frequencyRare
gene_ensembl_idENSG00000109099
gene_namePMP22
havana_transcript_idOTTHUMT00000130378
gene_location15229778-15262589
gene_orientation-
exon_idENSE00001896595, ENSE00003612568, ENSE00003558191, ENSE00000855493, ENSE00001523303
exon_number5
gene_descriptionperipheral myelin protein 22
disease_descriptionHereditary Motor and Sensory Neuropathy Type I,Diabetes Mellitus,Myotonic Dystrophy,Developmental Disabilities,CNS disorder,Mammary Neoplasms,Sleep Apnea, Obstructive,AMYOTROPHY, HEREDITARY NEURALGIC,Precancerous Conditions,Dengue Fever,Chromosome 17, trisomy 17p,Nerve paralysis,Malignant tumor of colon,Numbness,Guillain-Barre Syndrome,Charcot-Marie-Tooth Disease, Type Ia (disorder),Demyelinating Diseases,Hereditary liability to pressure palsies,Inherited Peripheral Neuropathy,Congenital hypoplasia of adrenal gland,Severe Dengue,Trisomy,Charcot-Marie-Tooth disease, Type 1E,Mixed sensory-motor polyneuropathy,Adenoma of large intestine,Colorectal Cancer,Paresthesia,Sciatic Neuropathy,Protein Misfolding Disorders,Mononeuropathies,Malignant neoplasm of skin,Malignant neoplasm of breast,Polyneuropathy,Muscular Dystrophy,Segmental glomerulosclerosis,Congenital hypomyelinating neuropathy,Charcot-Marie-Tooth Disease, Type Ib,Adrenomyeloneuropathy,Tuberculosis,Hereditary Motor and Sensory Neuro
miRNA_locationNA
miRNA_strandNA
miRNA_idNA
miRNA_nameNA
miRNA_derived NA
TechniqueKaryotyping
PMID2714776
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