Knowledge base for genomic medicine in Japanese
シトリン欠損症
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_014251.3(SLC25A13):c.1177+1G>ASLC25A13Pathogenic79581358895813588CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:603859.0002
duplicationNM_014251.3(SLC25A13):c.1638_1660dup (p.Ala554fs)SLC25A13Pathogenic79575124095751241GGCCCGGGCAGCCACCTGTAATCTCcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:603859.0003
single nucleotide variantNM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter)SLC25A13Pathogenic79582050195820501GTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:603859.0004
single nucleotide variantNM_014251.3(SLC25A13):c.1311+1G>ASLC25A13Pathogenic79579935695799356CTcriteria provided, single submitterOMIM Allelic Variant:603859.0005
duplicationNM_014251.3(SLC25A13):c.1799dup (p.Tyr600Ter)SLC25A13Pathogenic79575100895751009GGTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:603859.0006
single nucleotide variantNM_014251.3(SLC25A13):c.1078C>T (p.Arg360Ter)SLC25A13Pathogenic79581368895813688GAcriteria provided, single submitter-
single nucleotide variantNM_014251.3(SLC25A13):c.1801G>A (p.Glu601Lys)SLC25A13Likely pathogenic79575100795751007CTcriteria provided, single submitterUniProtKB (protein):Q9UJS0#VAR_016601
single nucleotide variantNM_014251.3(SLC25A13):c.1801G>T (p.Glu601Ter)SLC25A13Pathogenic79575100795751007CAcriteria provided, single submitter-
single nucleotide variantNM_014251.3(SLC25A13):c.1813C>T (p.Arg605Ter)SLC25A13Pathogenic79575099595750995GAcriteria provided, single submitter-
single nucleotide variantNM_014251.3(SLC25A13):c.550C>T (p.Arg184Ter)SLC25A13Pathogenic79582241495822414GAcriteria provided, single submitter-