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Legend: [ PORCN full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE , Hum.Mut. 15:7-12); for a summary see Nomenclature.
Genomic Reference Sequence.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Variant Original description: Original report Type: Type of variant at DNA level. Variant remarks: Variant remarks PORCN DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Origin: Origin X_inactivation: X skewing Reference: Reference Detection/Template: Detection/Template Detection/Technique: Detection/Technique Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Patient ID: Reference to the patient. Gender: Patient gender Phenotype _Skin: Presence of major skin abnormalities: Skin hypoplasia; Hyperpigmentation; Fat herniation
Nail dysplasia; Patchy alopecia; Papilloma periorally; Papilloma elsewhere (ND = non documented) Phenotype_Skeleton: Presence of major Skeleton features: Oligodactily; Polydactily; Syndactily; Scoliosis; Other asymmetric limb defects (ND = not documented) Phenotype_Oral_findings: Presence of major Oral findings features: Cleft lip/palate; Oligodontia; Enamel hypoplasia (ND = not documented) Thin_protruding_ears: Presence of thin, protruding ears
Phenotype _Eye: Presence of major eye features: Significantly decreased vision, Microophtalmia, Coloboma, Tear duct obstruction (ND = not documented) Microcephaly: Presence of major brain feature: Microcephaly
Phenotype_Internal_organs: Presence of major internal organs features: Heart defects; Kidney malformation; Hydronephrosis; Displaced anus (ND = not documented) Mental retardation: Presence of Mental Retardation: Yes, No, ND (= not documented) Phenotype_Other_findings: Presence of other major features (ND = not documented; lt = less than) Phenotype additional: Phenotype, additional features # Reported: Number of times this case has been reported Geographic origin: Geographic origin of patient Ethnic origin: Ethnic origin of patient