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Legend: [ GUCA1B 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: number of exon/intron containing variant; 02 = exon 2, 12i = intron 12, 01_08 = exons 1 to 8 DNA change: DNA change Var_pub_as: Var_pub_as RNA change: RNA change Protein: Protein GUCA1B DB-ID: DB-ID Variant remarks: Variant remarks Origin: origin of variant; unknown, germline (inherited), somatic, de novo, from parental disomy (maternal or paternal) or in vitro (cloned) when tested for functional consequences Reference: Reference Detection/Template: Detection/Template Detection/Technique: technique(s) used to identify the sequence variant; select multiple when more were used. For SEQ-NG indicate in the Remarks-column the number of reads showing the variant (e.g. 47/96 reads, 123/123 reads), select a second technique to indicate whether or not the variant was confirmed using another method (e.g. SEQ). Frequency: Frequency RE-site: RE-site Disease: Disease phenotype Phenotype additional: Phenotype, additional features Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Inheritance: indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial) or isolated (sporadic) Consanguinity: ndicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown) Families/Patients: number of familes (patients) = number independent families (number affected patients), like 1 (2) for 1 family with 2 patients # Reported: Number of times this case has been reported Geographic origin: Geographic origin Ethnic origin: Ethnic origin Gender: individual's gender; ? = unknown, - = not applicable, F = female, M = male, rF = raised as female, rM = raised as male Age_onset: age at onset first disease symptoms; 20y (ate age 20 years), 13m (13 months), 7d (7 days) Phenotype_onset: Phenotype_onset