Knowledge base for genomic medicine in Japanese
遺伝性出血性末梢血管拡張症 (オスラー病)
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000118.3(ENG):c.726C>A (p.Cys242Ter)ENGPathogenic9130587600130587600GTcriteria provided, single submitter-
single nucleotide variantNM_005359.6(SMAD4):c.787+1G>ASMAD4Likely pathogenic184858461548584615GAcriteria provided, single submitter-
duplicationNM_000118.3(ENG):c.780_789dup (p.Asp264fs)ENGLikely pathogenic9130587536130587537CCGATGAGCCAGcriteria provided, single submitter-