Knowledge base for genomic medicine in Japanese
先天性プロテインS欠乏症
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000313.3(PROS1):c.586A>G (p.Lys196Glu)PROS1Pathogenic39362464393624643TCcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:176880.0003,UniProtKB (protein):P07225#VAR_005566
single nucleotide variantNM_000313.3(PROS1):c.1063C>T (p.Arg355Cys)PROS1Pathogenic39361186993611869GAcriteria provided, single submitterOMIM Allelic Variant:176880.0009
single nucleotide variantNM_000313.4(PROS1):c.728-1G>APROS1Likely pathogenic39361741493617414CTcriteria provided, single submitter-
indelNM_000313.3(PROS1):c.967delinsGG (p.Phe323fs)PROS1Pathogenic39361196593611965ACCcriteria provided, single submitter-
deletionNC_000003.12:g.(?_93879163)_(93879314_?)delPROS1Pathogenic39359800793598158nanacriteria provided, single submitter-
single nucleotide variantNM_000313.3(PROS1):c.1156-1G>APROS1Pathogenic39360534893605348CTcriteria provided, single submitter-
deletionNC_000003.12:g.(?_93874239)_(94053268_?)delPROS1Pathogenic39359308393772112nanacriteria provided, single submitter-
single nucleotide variantNM_000313.3(PROS1):c.1351C>T (p.Arg451Ter)PROS1Pathogenic/Likely pathogenic39360371393603713GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000313.3(PROS1):c.1204G>T (p.Glu402Ter)PROS1Pathogenic39360529993605299CAcriteria provided, single submitter-
single nucleotide variantNM_000313.3(PROS1):c.1998T>A (p.Cys666Ter)PROS1Likely pathogenic39359312293593122ATcriteria provided, single submitter-