Knowledge base for genomic medicine in Japanese
先天性第XI因子欠乏症
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNC_000004.12:g.(?_185684754)_(186709827_?)delF11Pathogenic4186605908187630981nanacriteria provided, single submitter-
DuplicationNM_000128.4(F11):c.1275_1281dup (p.Thr428fs)F11Pathogenic4187205384187205385GGGATATTAcriteria provided, multiple submitters, no conflicts-
DeletionSingle alleleF11Likely pathogenic4187186066187210839nanacriteria provided, single submitter-
single nucleotide variantNM_000128.4(F11):c.1120T>C (p.Cys374Arg)F11Likely pathogenic4187201719187201719TCcriteria provided, single submitter-
single nucleotide variantNM_000128.4(F11):c.1118T>C (p.Leu373Ser)F11Likely pathogenic4187201717187201717TCcriteria provided, single submitter-
single nucleotide variantNM_000128.4(F11):c.802C>T (p.Arg268Cys)F11Pathogenic4187201212187201212CTcriteria provided, single submitter-
single nucleotide variantNM_000128.4(F11):c.728C>T (p.Ser243Phe)F11Likely pathogenic4187197517187197517CTcriteria provided, single submitter-
single nucleotide variantNM_000128.4(F11):c.359T>C (p.Met120Thr)F11Likely pathogenic4187195303187195303TCcriteria provided, single submitter-
DeletionNM_000128.4(F11):c.343del (p.Tyr115fs)F11Likely pathogenic4187195285187195285ATAcriteria provided, single submitter-
single nucleotide variantNM_000128.4(F11):c.1480+2T>CF11Likely pathogenic4187206969187206969TCcriteria provided, single submitter-