Knowledge base for genomic medicine in Japanese
家族性若年糖尿病 (MODY3)
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000545.8(HNF1A):c.956-1G>CHNF1APathogenic12121434064121434064GCreviewed by expert panel-
single nucleotide variantNM_000545.8(HNF1A):c.1483C>T (p.Gln495Ter)HNF1APathogenic12121435450121435450CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000545.8(HNF1A):c.956-1G>AHNF1APathogenic12121434064121434064GAreviewed by expert panel-
single nucleotide variantNM_000545.8(HNF1A):c.626C>A (p.Ala209Glu)HNF1ALikely pathogenic12121431422121431422CAreviewed by expert panel-
single nucleotide variantNM_000545.8(HNF1A):c.476G>A (p.Arg159Gln)HNF1APathogenic12121426785121426785GAreviewed by expert panel-
single nucleotide variantNM_000545.8(HNF1A):c.370C>T (p.Gln124Ter)HNF1APathogenic12121426679121426679CTcriteria provided, multiple submitters, no conflicts-
DeletionNM_000545.8(HNF1A):c.864_897del (p.Pro290fs)HNF1APathogenic/Likely pathogenic12121432116121432149GGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000545.8(HNF1A):c.392G>A (p.Arg131Gln)HNF1APathogenic12121426701121426701GAreviewed by expert panel-
single nucleotide variantNM_000545.8(HNF1A):c.19C>T (p.Gln7Ter)HNF1APathogenic12121416590121416590CTreviewed by expert panel-
single nucleotide variantNM_000545.8(HNF1A):c.787C>T (p.Arg263Cys)HNF1APathogenic12121432040121432040CTreviewed by expert panel-