LOVD - Variant listings for KCNJ2

Warning Please note that this overview may not be complete, as variants with unknown effect to the phenotype are left out.

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2 c.1051C>T - r.(?) p.(Pro351Ser) KCNJ2_00060 cytoplasmic, carrier of c.1927G>A(p.G643S)(KCNQ1) unknown Haruna 2007 DNA PCR-SSCP, DHPLC, SEQ - -
2 c.1146C>T - r.(?) silent (L382) KCNJ2_00062 M2 unknown Plaster 2001 DNA unknown - -
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Legend: [ KCNJ2 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 [2000], 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.
Exon: Exon/Intron numbering. DNA change: DNA change Var_pub_as: Variant published as RNA change: RNA change Protein: description of variant at protein level, following HGVS recommendations; e.g. p.(Arg345Pro) = (RNA not analysed, change predicted from DNA), p.Arg345Pro (protein change predicted from RNA), p.0 (no protein produced), p.? (unknown effect) KCNJ2 DB-ID: the ID starts with the HGNC gene symbol followed by an underscore (_) and ends with a five digit ID code Variant remarks: Variant remarks Genetic origin: origin of variant, unknown, germline (i.e. inherited), somatic, de novo or from parental disomy (maternal or paternal) Reference: Reference = publication describing variant submitted, incl. links to OMIM and dbSNP (when available); format {PMID[1]:[2]} (where [1] = PubMedID, [2] = e.g. den Dunnen 2007) or "den Dunnen ASHG2003 P2346". NOTE: not the reference to another report describing this variant. Template: Template Technique: Technique Frequency: frequency in which variant was found; e.g 5/76 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested). NOTE: preferred format is 5/76. Restriction-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site.