Global Variome shared LOVD

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Phenotype #0000302119 Individual ID 00410010 Associated disease - Phenotype details onset of night blindness (years): none, onset of visual field loss (years): 56; visual field: marked concentric loss (56); best corrected visual acuity right/left eye: 1 both eyes (52); electroretinogram: not available; fundus: right eye: slight colour alteration of the retinal pigment epithelium; left eye: few bone spicules (56) Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination 63y (63 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein upregulation of RHO promoter by p.M96T protein similar to that shown by other missense NRL mutations that cause adRP Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-05-17 15:02:13 +02:00 (CEST) Date last edited N/A

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