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Legend: [ MUTYH 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.
Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
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 DNA change: DNA change Protein: Protein change RNA change: RNA change Variant reference: Variant reference DNA_reported: DNA_reported Protein_reported: Protein_reported MUTYH DB-ID: DB-ID Type: Type Cons_predicted: Consequence_predicted Variant remarks: Variant remarks Origin: Origin Frequency: Frequency Detection/Template: Detection/Template Detection/Technique: Detection/Technique Method: Method Protein_test/Method: Protein_test/Method Protein_test/Result: Protein_test/Result Protein_test/Type: Protein_test/Type Protein_data: Protein_data Protein_location: Protein_location Disease: Disease Gender: Gender Inherit: indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial) or isolated (sporadic) # Reported: Number of times this case has been reported Geographic origin: Geographic origin Colorectal phenotype: Colorectal phenotype Additional phenotype info: Additional phenotype information Pedigree info available: Pedigree info available CC_criteria: CC_criteria = colon cancer criteria Tumor_IHC: Tumor_IHC Tumor_MSI: Tumor_MSI Phenotype additional: Phenotype, additional features Phenotype reference: Phenotype reference = reference describing phenotype/family, when different from Variant/Reference (e.g. publication, conference - indicate name presenter and year) and reference to submitter to database Remarks: Remarks