Detailed description page of humcfs

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Humcfs_3343 details
Primary information
Humcfs IdHumcfs_3343
chromosome_numberchromosome12
nameFRA12A
chrlocation46400001-54900000
cytoband12q13.1
typeFolic acid
frequencyRare
gene_ensembl_idENSG00000139567
gene_nameACVRL1
havana_transcript_idOTTHUMT00000404525
gene_location51915448-51919342
gene_orientation+
exon_idENSE00002287358, ENSE00000938759, ENSE00002404852
exon_number3
gene_descriptionactivin A receptor type II-like 1
disease_descriptionCerebrovascular accident,Congenital Abnormality,Inflammatory Myofibroblastic Tumor,Huntington Disease,Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia,Atypical fibroxanthoma of skin,Cardiovascular Diseases,Vascular Diseases,Pituitary Neoplasms,Liver diseases,Adenocarcinoma,HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION,Idiopathic pulmonary hypertension,Pulmonary Hypertension,Primary cutaneous lymphoma,Juvenile polyposis syndrome,Idiopathic pulmonary arterial hypertension,Malignant neoplasm of breast,Breast Carcinoma,Hyperparathyroidism, Secondary,Lymphoma, Primary Cutaneous Anaplastic Large Cell,Tumor Angiogenesis,Neuroblastoma,Connective Tissue Diseases,Congenital arteriovenous malformation,Cutaneous lymphoma,Histiocytoma, Benign Fibrous,Renal Cell Carcinoma,Congenital chromosomal disease,Diabetic Nephropathy,Degenerative polyarthritis,Liver Cirrhosis,Lymphoma,Invasive breast carcinoma,Pancreatic Neoplasm,Tumor Progression,H
miRNA_locationNA
miRNA_strandNA
miRNA_idNA
miRNA_nameNA
miRNA_derived NA
TechniqueFISH
PMID8833161
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