Knowledge base for genomic medicine in Japanese
常染色体優性低リン血症性くる病
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_020638.3(FGF23):c.527G>A (p.Arg176Gln)FGF23Pathogenic1244797384479738CTcriteria provided, single submitterOMIM Allelic Variant:605380.0001,UniProtKB (protein):Q9GZV9#VAR_010717
single nucleotide variantNM_020638.3(FGF23):c.535C>T (p.Arg179Trp)FGF23Pathogenic/Likely pathogenic1244797304479730GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:605380.0002,UniProtKB (protein):Q9GZV9#VAR_010718
single nucleotide variantNM_020638.3(FGF23):c.162G>C (p.Gln54His)FGF23Likely pathogenic1244885874488587CGcriteria provided, single submitter-
single nucleotide variantNM_020638.3(FGF23):c.536G>A (p.Arg179Gln)FGF23Pathogenic1244797294479729CTcriteria provided, multiple submitters, no conflictsUniProtKB (protein):Q9GZV9#VAR_010719
single nucleotide variantNM_020638.3(FGF23):c.260G>A (p.Gly87Asp)FGF23Likely pathogenic1244818154481815CTcriteria provided, single submitter-
single nucleotide variantNM_020638.3(FGF23):c.107G>A (p.Trp36Ter)FGF23Likely pathogenic1244886424488642CTcriteria provided, single submitter-
single nucleotide variantNM_020638.3(FGF23):c.385T>C (p.Ser129Pro)FGF23Pathogenic1244798804479880AGcriteria provided, single submitter-
single nucleotide variantNM_020638.3(FGF23):c.367G>T (p.Gly123Trp)FGF23Pathogenic1244798984479898CAcriteria provided, single submitter-