Detailed description page of humcfs

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Humcfs_1582 details
Primary information
Humcfs IdHumcfs_1582
chromosome_numberchromosome5
nameFRA5G
chrlocation168500001-180915260
cytoband5q35
typeFolic acid
frequencyRare
gene_ensembl_idENSG00000165671
gene_nameNSD1
havana_transcript_idOTTHUMT00000372609
gene_location177134173-177137404
gene_orientation+
exon_idENSE00002026262, ENSE00001516090, ENSE00001555568, ENSE00002049535
exon_number4
gene_descriptionnuclear receptor binding SET domain protein 1
disease_descriptionSeizures,Adenoid Cystic Carcinoma,Intellectual Disability,Congenital Abnormality,Weaver syndrome,Autistic Disorder,Hypercalcemia, Idiopathic, of Infancy,Dwarfism,Congenital musculoskeletal anomalies,Macrocephaly,Microvascular Angina,Sotos' syndrome,Carcinoma of lung,Malignant neoplasm of lung,Attention deficit hyperactivity disorder,Mental Retardation,Refractory anaemia with excess blasts,Beckwith-Wiedemann Syndrome,Cognition Disorders,Tumor Progression,Overgrowth Syndrome,Carcinogenesis,alpha^+^ Thalassemia,leukemia,alpha-Thalassemia,Leukemia, Myelocytic, Acute,Acute Myeloid Leukemia with Myelodysplasia-Related Changes,Class III malocclusion,Arnold-Chiari Malformation, Type I,pediatric acute myeloblastic leukemia,Chromosome Breakage,Epilepsy,Growth Disorders,Subacute Bacterial Endocarditis,Liver neoplasms,Hypoparathyroidism,Osteoporosis
miRNA_locationNA
miRNA_strandNA
miRNA_idNA
miRNA_nameNA
miRNA_derived NA
TechniqueKaryotyping
PMID15650228
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