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.-168C>TPROS1Likely pathogenic39369276193692761GAcriteria provided, single submitter-
DuplicationNM_000313.4(PROS1):c.49dup (p.Leu17fs)PROS1Likely pathogenic39369254493692545AAGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000313.4(PROS1):c.77-1G>CPROS1Pathogenic39364625293646252CGcriteria provided, multiple submitters, no conflicts-
DeletionNM_000313.4(PROS1):c.252del (p.Lys84fs)PROS1Pathogenic39364309193643091ATAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000313.4(PROS1):c.353C>T (p.Pro118Leu)PROS1Likely pathogenic39362498193624981GAcriteria provided, single submitter-
single nucleotide variantNM_000313.4(PROS1):c.586A>G (p.Lys196Glu)PROS1Pathogenic39362464393624643TCcriteria provided, multiple submitters, no conflictsClinGen:CA123032,UniProtKB:P07225#VAR_005566,OMIM:176880.0003
single nucleotide variantNM_000313.4(PROS1):c.728-1G>APROS1Likely pathogenic39361741493617414CTcriteria provided, single submitterClinGen:CA233399
DeletionNM_000313.4(PROS1):c.785del (p.Gly262fs)PROS1Pathogenic39361735693617356ACAcriteria provided, single submitter-
single nucleotide variantNM_000313.4(PROS1):c.913C>T (p.Gln305Ter)PROS1Likely pathogenic39361547293615472GAcriteria provided, single submitter-
IndelNM_000313.4(PROS1):c.967delinsGG (p.Phe323fs)PROS1Pathogenic39361196593611965ACCcriteria provided, single submitterClinGen:CA337130