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)
deletionNC_000003.12:g.(?_149221627)_(149221812_?)delCPPathogenic3148939414148939599nanacriteria provided, single submitter-
deletionNM_000096.4(CP):c.48del (p.Ala17fs)CPLikely pathogenic3148939532148939532CTCcriteria provided, single submitter-
single nucleotide variantNM_000096.4(CP):c.147-2A>GCPPathogenic3148930487148930487TCcriteria provided, single submitter-
deletionNM_000096.4(CP):c.607+1delCPLikely pathogenic3148927953148927953ACAcriteria provided, single submitter-
single nucleotide variantNM_000096.4(CP):c.643C>T (p.Arg215Ter)CPPathogenic3148927136148927136GAcriteria provided, single submitter-
single nucleotide variantNM_000096.4(CP):c.928C>G (p.Arg310Gly)CPLikely pathogenic3148925258148925258GCcriteria 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.1613del (p.Met538fs)CPPathogenic3148916254148916254CACcriteria provided, single submitter-
single nucleotide variantNM_000096.4(CP):c.1679G>T (p.Cys560Phe)CPLikely pathogenic3148916188148916188CAcriteria provided, single submitter-