Knowledge base for genomic medicine in Japanese
家族性若年糖尿病 (MODY3)
循環器・内分泌疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000545.6(HNF1A):c.608G>A (p.Arg203His)HNF1ALikely pathogenic12121431404121431404GAcriteria provided, multiple submitters, no conflicts-
duplicationNM_000545.6(HNF1A):c.872dup (p.Gly292fs)HNF1APathogenic12121432117121432118GGCcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:142410.0001
single nucleotide variantNM_000545.6(HNF1A):c.1340C>T (p.Pro447Leu)HNF1APathogenic12121435307121435307CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:142410.0002
single nucleotide variantNM_000545.6(HNF1A):c.815G>A (p.Arg272His)HNF1APathogenic12121432068121432068GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:142410.0005
single nucleotide variantNM_000545.6(HNF1A):c.335C>T (p.Pro112Leu)HNF1APathogenic12121426644121426644CTcriteria provided, single submitterOMIM Allelic Variant:142410.0015
single nucleotide variantNM_000545.6(HNF1A):c.391C>T (p.Arg131Trp)HNF1APathogenic12121426700121426700CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:142410.0016
single nucleotide variantNM_000545.6(HNF1A):c.827C>A (p.Ala276Asp)HNF1ALikely pathogenic12121432080121432080CAcriteria provided, single submitterOMIM Allelic Variant:142410.0019
deletionNM_000545.6(HNF1A):c.1129del (p.Leu377fs)HNF1ALikely pathogenic12121434361121434361GCGcriteria provided, single submitter-
single nucleotide variantNM_000545.6(HNF1A):c.1265T>C (p.Leu422Pro)HNF1ALikely pathogenic12121434501121434501TCcriteria provided, single submitter-
deletionNM_000545.6(HNF1A):c.130del (p.Leu44fs)HNF1APathogenic12121416697121416697GCGcriteria provided, single submitter-