Knowledge base for genomic medicine in Japanese
オルニチントランスカルバミラーゼ欠損症
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000531.6(OTC):c.238A>G (p.Lys80Glu)OTCPathogenicX3822907038229070AGcriteria provided, single submitterHGMD:CM004200
single nucleotide variantNM_000531.6(OTC):c.540+2T>COTCPathogenicX3826068338260683TCcriteria provided, single submitterHGMD:CS951496
single nucleotide variantNM_000531.6(OTC):c.1061T>G (p.Phe354Cys)OTCLikely pathogenicX3828033138280331TGcriteria provided, single submitterUniProtKB (protein):P00480#VAR_004948
single nucleotide variantNM_000531.6(OTC):c.122A>G (p.Asp41Gly)OTCLikely pathogenicX3822658838226588AGcriteria provided, single submitter-
single nucleotide variantNM_000531.6(OTC):c.154G>A (p.Glu52Lys)OTCPathogenicX3822662038226620GAcriteria provided, single submitter-
single nucleotide variantNM_000531.6(OTC):c.167T>C (p.Met56Thr)OTCLikely pathogenicX3822663338226633TCcriteria provided, single submitterUniProtKB (protein):P00480#VAR_004855
single nucleotide variantNM_000531.6(OTC):c.205C>T (p.Gln69Ter)OTCPathogenicX3822667138226671CTcriteria provided, single submitter-
single nucleotide variantNM_000531.6(OTC):c.274C>T (p.Arg92Ter)OTCPathogenicX3822910638229106CTcriteria provided, single submitter-
single nucleotide variantNM_000531.6(OTC):c.275G>A (p.Arg92Gln)OTCPathogenicX3822910738229107GAcriteria provided, multiple submitters, no conflictsUniProtKB (protein):P00480#VAR_004865
single nucleotide variantNM_000531.6(OTC):c.298+1G>AOTCPathogenicX3822913138229131GAcriteria provided, single submitter-