Knowledge base for genomic medicine in Japanese
皮質下梗塞と白質脳症を伴う常染色体優性脳動脈症
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000435.3(NOTCH3):c.548G>T (p.Cys183Phe)NOTCH3Pathogenic/Likely pathogenic191530290215302902CAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000435.3(NOTCH3):c.580T>C (p.Cys194Arg)NOTCH3Pathogenic/Likely pathogenic191530287015302870AGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000435.3(NOTCH3):c.1816T>C (p.Cys606Arg)NOTCH3Pathogenic/Likely pathogenic191529794015297940AGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys)NOTCH3Pathogenic/Likely pathogenic191529812615298126GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000435.3(NOTCH3):c.146G>A (p.Cys49Tyr)NOTCH3Pathogenic/Likely pathogenic191530836215308362CTcriteria provided, multiple submitters, no conflictsClinGen:CA404483407
single nucleotide variantNM_000435.3(NOTCH3):c.160C>T (p.Arg54Cys)NOTCH3Pathogenic/Likely pathogenic191530834815308348GAcriteria provided, multiple submitters, no conflictsClinGen:CA404483379
single nucleotide variantNM_000435.3(NOTCH3):c.164G>A (p.Cys55Tyr)NOTCH3Pathogenic/Likely pathogenic191530834415308344CTcriteria provided, multiple submitters, no conflictsClinGen:CA404483372
single nucleotide variantNM_000435.3(NOTCH3):c.194G>C (p.Cys65Ser)NOTCH3Pathogenic/Likely pathogenic191530831415308314CGcriteria provided, multiple submitters, no conflictsClinGen:CA404483314
single nucleotide variantNM_000435.3(NOTCH3):c.200G>T (p.Cys67Phe)NOTCH3Pathogenic/Likely pathogenic191530332815303328CAcriteria provided, multiple submitters, no conflictsClinGen:CA404535226
single nucleotide variantNM_000435.3(NOTCH3):c.245G>T (p.Cys82Phe)NOTCH3Pathogenic/Likely pathogenic191530328315303283CAcriteria provided, multiple submitters, no conflictsClinGen:CA305778444