Knowledge base for genomic medicine in Japanese
無セルロプラスミン血症
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000096.4(CP):c.2756T>C (p.Leu919Pro)CPLikely pathogenic3148896324148896324AGcriteria provided, single submitter-
deletionNC_000003.12:g.(?_149206148)_(149206359_?)delCPPathogenic3148923935148924146nanacriteria provided, single submitter-
short repeatNM_000096.4(CP):c.1503_1504TG[3] (p.Pro503fs)CPPathogenic3148916360148916361GGCAcriteria provided, single submitter-
deletionNM_000096.4(CP):c.48del (p.Ala17fs)CPLikely pathogenic3148939532148939532CTCcriteria provided, single submitter-
deletionNC_000003.12:g.(?_149221627)_(149221812_?)delCPPathogenic3148939414148939599nanacriteria provided, single submitter-
duplicationNM_000096.4(CP):c.2702dup (p.Arg902fs)CPPathogenic3148896377148896378TTCcriteria provided, single submitter-
single nucleotide variantNM_000096.4(CP):c.2253G>A (p.Trp751Ter)CPPathogenic3148903058148903058CTcriteria provided, single submitter-
single nucleotide variantNM_000096.4(CP):c.2498C>G (p.Ser833Ter)CPPathogenic3148899848148899848GCcriteria provided, single submitter-
deletionNM_000096.4(CP):c.1613del (p.Met538fs)CPPathogenic3148916254148916254CACcriteria provided, single submitter-