Detailed description page of humcfs
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Humcfs_4512 details |
| Primary information | |
|---|---|
| Humcfs Id | Humcfs_4512 |
| chromosome_number | chromosome19 |
| name | FRA19A |
| chrlocation | 32400001-59128983 |
| cytoband | 19q13 |
| type | 5-azacytidine |
| frequency | Common |
| gene_ensembl_id | ENSG00000125741 |
| gene_name | OPA3 |
| havana_transcript_id | OTTHUMT00000459602 |
| gene_location | 45552884-45602212 |
| gene_orientation | - |
| exon_id | ENSE00002303531, ENSE00002241837 |
| exon_number | 2 |
| gene_description | optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) |
| disease_description | 3-@METHYLGLUTACONIC ACIDURIA, TYPE I,Muscle Spasticity,Optic Atrophy, Autosomal Dominant,Disorder of the optic nerve,Lens Opacities,Neurologic Symptoms,Retinal Diseases,Primary angle-closure glaucoma,3-Methylglutaconic Aciduria Type IV,Optic Atrophy, Hereditary, Leber,3-Methylglutaconic aciduria type 3,3-Methylglutaconic Aciduria,Optic Atrophy,OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT,Hearing Loss, Mixed Conductive-Sensorineural,Alcoholic Intoxication, Chronic,Bilateral cataracts (disorder),Optic Atrophies, Hereditary,Cataract |
| miRNA_location | NA |
| miRNA_strand | NA |
| miRNA_id | NA |
| miRNA_name | NA |
| miRNA_derived | NA |
| Technique | Karyotyping |
| PMID | 2579891 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |