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)
DeletionNM_000545.8(HNF1A):c.1822_1829del (p.Ser608fs)HNF1ALikely pathogenic12121438921121438928GAGCCACCTGcriteria provided, single submitterClinGen:CA658797970
single nucleotide variantNM_000545.8(HNF1A):c.1501+1G>AHNF1ALikely pathogenic12121435469121435469GAreviewed by expert panelClinGen:CA386970409
single nucleotide variantNM_000545.8(HNF1A):c.1489C>T (p.Gln497Ter)HNF1APathogenic12121435456121435456CTreviewed by expert panelClinGen:CA386970379
single nucleotide variantNM_000545.8(HNF1A):c.1483C>T (p.Gln495Ter)HNF1APathogenic12121435450121435450CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000545.8(HNF1A):c.1378C>T (p.Gln460Ter)HNF1APathogenic12121435345121435345CTcriteria provided, multiple submitters, no conflictsClinGen:CA386970117
DeletionNM_000545.8(HNF1A):c.1359del (p.Ser454fs)HNF1ALikely pathogenic12121435326121435326GCGreviewed by expert panelClinGen:CA645372549
single nucleotide variantNM_000545.8(HNF1A):c.1340C>T (p.Pro447Leu)HNF1APathogenic12121435307121435307CTreviewed by expert panelClinGen:CA124454,OMIM:142410.0002
DeletionNM_000545.8(HNF1A):c.1137del (p.Val380fs)HNF1APathogenic12121434373121434373CTCreviewed by expert panelClinGen:CA645372923
DeletionNM_000545.8(HNF1A):c.1129del (p.Leu377fs)HNF1APathogenic12121434361121434361GCGreviewed by expert panelClinGen:CA214257
single nucleotide variantNM_000545.8(HNF1A):c.956-1G>CHNF1APathogenic12121434064121434064GCreviewed by expert panel-