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.672G>A (p.Glu224=)TP53Pathogenic/Likely pathogenic1775781777578177CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001126112.2(TP53):c.892G>T (p.Glu298Ter)TP53Pathogenic1775770467577046CAreviewed by expert panelHGMD:CM031387
single nucleotide variantNM_001126112.2(TP53):c.736A>G (p.Met246Val)TP53Pathogenic1775775457577545TCcriteria provided, multiple submitters, no conflictsUniProtKB (protein):P04637#VAR_005978
deletionNM_001126112.2(TP53):c.328del (p.Arg110fs)TP53Pathogenic1775793597579359CGCcriteria provided, multiple submitters, no conflicts-
short repeatNM_001126112.2(TP53):c.363_364TG[1] (p.Val122fs)TP53Pathogenic1775793217579322TCATcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001126112.2(TP53):c.488A>G (p.Tyr163Cys)TP53Pathogenic1775784427578442TCreviewed by expert panelUniProtKB (protein):P04637#VAR_033035
single nucleotide variantNM_001126112.2(TP53):c.535C>T (p.His179Tyr)TP53Pathogenic/Likely pathogenic1775783957578395GAcriteria provided, multiple submitters, no conflictsUniProtKB (protein):P04637#VAR_044939
single nucleotide variantNM_001126112.2(TP53):c.580C>T (p.Leu194Phe)TP53Likely pathogenic1775782697578269GAcriteria provided, single submitterUniProtKB (protein):P04637#VAR_044997
single nucleotide variantNM_000546.6(TP53):c.659A>G (p.Tyr220Cys)TP53Pathogenic1775781907578190TCreviewed by expert panelUniProtKB (protein):P04637#VAR_005957
single nucleotide variantNM_001126112.2(TP53):c.701A>G (p.Tyr234Cys)TP53Pathogenic/Likely pathogenic1775775807577580TCcriteria provided, multiple submitters, no conflictsUniProtKB (protein):P04637#VAR_005963