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.844C>T (p.Arg282Trp)TP53Pathogenic/Likely pathogenic1775770947577094GAcriteria provided, multiple submitters, no conflictsClinGen:CA000454,UniProtKB:P04637#VAR_006016,OMIM:191170.0018
single nucleotide variantNM_000546.6(TP53):c.733G>A (p.Gly245Ser)TP53Pathogenic1775775487577548CTreviewed by expert panelClinGen:CA000367,UniProtKB:P04637#VAR_005974,OMIM:191170.0019
single nucleotide variantNM_000546.6(TP53):c.818G>A (p.Arg273His)TP53Pathogenic1775771207577120CTreviewed by expert panelClinGen:CA000434,UniProtKB:P04637#VAR_005995,OMIM:191170.0020
single nucleotide variantNM_000546.6(TP53):c.839G>C (p.Arg280Thr)TP53Pathogenic/Likely pathogenic1775770997577099CGcriteria provided, multiple submitters, no conflictsClinGen:CA000445,UniProtKB:P04637#VAR_006009,OMIM:191170.0024
single nucleotide variantNM_000546.6(TP53):c.451C>A (p.Pro151Thr)TP53Pathogenic/Likely pathogenic1775784797578479GTcriteria provided, multiple submitters, no conflictsClinGen:CA000198,UniProtKB:P04637#VAR_005896,OMIM:191170.0025
single nucleotide variantNM_000546.6(TP53):c.451C>T (p.Pro151Ser)TP53Pathogenic/Likely pathogenic1775784797578479GAcriteria provided, multiple submitters, no conflictsClinGen:CA000200,UniProtKB:P04637#VAR_005895,OMIM:191170.0026
single nucleotide variantNM_000546.6(TP53):c.524G>A (p.Arg175His)TP53Pathogenic1775784067578406CTcriteria provided, multiple submitters, no conflictsClinGen:CA000251,UniProtKB:P04637#VAR_005932,OMIM:191170.0030
single nucleotide variantNM_000546.6(TP53):c.1031T>C (p.Leu344Pro)TP53Likely pathogenic1775739967573996AGreviewed by expert panelClinGen:CA000021,UniProtKB:P04637#VAR_045546,OMIM:191170.0031
single nucleotide variantNM_000546.6(TP53):c.412G>C (p.Ala138Pro)TP53Pathogenic/Likely pathogenic1775785187578518CGcriteria provided, multiple submitters, no conflictsClinGen:CA000166,UniProtKB:P04637#VAR_005881,OMIM:191170.0032
DeletionNM_000546.6(TP53):c.532del (p.His178fs)TP53Pathogenic1775783987578398TGTcriteria provided, multiple submitters, no conflictsClinGen:CA278880,OMIM:191170.0033