Knowledge base for genomic medicine in Japanese
リ・フラウメニ症候群
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000546.6(TP53):c.592G>T (p.Glu198Ter)TP53Pathogenic1775782577578257CAcriteria provided, single submitter-
single nucleotide variantNM_000546.6(TP53):c.548C>G (p.Ser183Ter)TP53Pathogenic1775783827578382GCcriteria provided, single submitter-
single nucleotide variantNM_000546.6(TP53):c.511G>T (p.Glu171Ter)TP53Pathogenic1775784197578419CAcriteria provided, single submitter-
DeletionNM_000546.6(TP53):c.455del (p.Pro152fs)TP53Pathogenic1775784757578475CGCcriteria provided, single submitter-
single nucleotide variantNM_000546.6(TP53):c.437G>A (p.Trp146Ter)TP53Pathogenic1775784937578493CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000546.6(TP53):c.430C>T (p.Gln144Ter)TP53Pathogenic1775785007578500GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000546.6(TP53):c.396G>T (p.Lys132Asn)TP53Pathogenic/Likely pathogenic1775785347578534CAcriteria provided, multiple submitters, no conflicts-
DuplicationNM_000546.6(TP53):c.371dup (p.Cys124fs)TP53Pathogenic1775793157579316GGCcriteria provided, single submitter-
single nucleotide variantNM_000546.6(TP53):c.314G>T (p.Gly105Val)TP53Likely pathogenic1775793737579373CAcriteria provided, single submitter-
single nucleotide variantNM_000546.6(TP53):c.298C>T (p.Gln100Ter)TP53Pathogenic/Likely pathogenic1775793897579389GAcriteria provided, multiple submitters, no conflicts-