Knowledge base for genomic medicine in Japanese
マルファン症候群
循環器・内分泌疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000138.4(FBN1):c.7339G>A (p.Glu2447Lys)FBN1Pathogenic/Likely pathogenic154871768048717680CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:134797.0015
single nucleotide variantNM_000138.4(FBN1):c.1643A>T (p.Asn548Ile)FBN1Pathogenic154880231248802312TAcriteria provided, single submitterOMIM Allelic Variant:134797.0010
single nucleotide variantNM_000138.4(FBN1):c.6431A>G (p.Asn2144Ser)FBN1Pathogenic/Likely pathogenic154872922348729223TCcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:134797.0009
single nucleotide variantNM_000138.4(FBN1):c.6339T>G (p.Tyr2113Ter)FBN1Pathogenic154872955948729559ACcriteria provided, single submitterOMIM Allelic Variant:134797.0008
single nucleotide variantNM_000138.4(FBN1):c.3725G>A (p.Cys1242Tyr)FBN1Pathogenic154877612848776128CTcriteria provided, single submitterOMIM Allelic Variant:134797.0026