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.163T>C (p.Cys55Arg)NOTCH3Pathogenic191530834515308345AGcriteria provided, single submitter-
single nucleotide variantNM_000435.3(NOTCH3):c.145T>G (p.Cys49Gly)NOTCH3Pathogenic191530836315308363ACcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000435.3(NOTCH3):c.224G>C (p.Arg75Pro)NOTCH3Pathogenic191530330415303304CGcriteria provided, multiple submitters, no conflicts-