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.1813C>T (p.Arg605Ter)SLC25A13Pathogenic/Likely pathogenic79575099595750995GAcriteria provided, multiple submitters, no conflictsClinGen:CA342157
single nucleotide variantNM_014251.3(SLC25A13):c.550C>T (p.Arg184Ter)SLC25A13Pathogenic79582241495822414GAcriteria provided, multiple submitters, no conflictsClinGen:CA342159
single nucleotide variantNM_014251.3(SLC25A13):c.615+5G>ASLC25A13Pathogenic/Likely pathogenic79582234495822344CTcriteria provided, multiple submitters, no conflictsClinGen:CA342162
DeletionNM_014251.3(SLC25A13):c.852_855del (p.Met285fs)SLC25A13Pathogenic79581868495818687TCATATcriteria provided, multiple submitters, no conflictsClinGen:CA253673,OMIM:603859.0001
single nucleotide variantNM_014251.3(SLC25A13):c.775C>T (p.Gln259Ter)SLC25A13Pathogenic79581896695818966GAcriteria provided, single submitterClinGen:CA10586126
single nucleotide variantNM_014251.3(SLC25A13):c.955C>T (p.Arg319Ter)SLC25A13Pathogenic79581430295814302GAcriteria provided, multiple submitters, no conflictsClinGen:CA16042703
single nucleotide variantNM_014251.3(SLC25A13):c.468+5G>ASLC25A13Likely pathogenic79583814595838145CTcriteria provided, single submitterClinGen:CA645372449
DeletionNM_014251.3(SLC25A13):c.1712del (p.Arg571fs)SLC25A13Pathogenic79575118995751189ACAcriteria provided, single submitterClinGen:CA658657696
single nucleotide variantNM_014251.3(SLC25A13):c.70-1G>ASLC25A13Pathogenic/Likely pathogenic79590665195906651CTcriteria provided, multiple submitters, no conflicts-
DeletionNM_014251.3(SLC25A13):c.1631del (p.Ile544fs)SLC25A13Pathogenic79575127095751270GAGcriteria provided, single submitter-