Knowledge base for genomic medicine in Japanese
遺伝性ポルフィリン症
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000190.4(HMBS):c.612+1G>AHMBSPathogenic11118962237118962237GAcriteria provided, single submitter-
single nucleotide variantNM_000190.4(HMBS):c.345-1G>AHMBSPathogenic11118960699118960699GAcriteria provided, single submitter-
single nucleotide variantNM_000190.4(HMBS):c.874C>T (p.Gln292Ter)HMBSPathogenic/Likely pathogenic11118963693118963693CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000190.4(HMBS):c.719A>G (p.Asp240Gly)HMBSPathogenic11118963181118963181AGcriteria provided, single submitter-
DeletionNM_000190.4(HMBS):c.716del (p.His239fs)HMBSPathogenic11118963178118963178CACcriteria provided, single submitter-
single nucleotide variantNM_000190.4(HMBS):c.673C>T (p.Arg225Ter)HMBSPathogenic11118963135118963135CTcriteria provided, multiple submitters, no conflicts-
DeletionNM_000190.4(HMBS):c.623_624del (p.Pro208fs)HMBSPathogenic11118962845118962846CCTCcriteria provided, single submitter-
single nucleotide variantNM_000190.4(HMBS):c.612G>T (p.Gln204His)HMBSPathogenic11118962236118962236GTcriteria provided, single submitterOMIM:609806.0011
DuplicationNM_000190.4(HMBS):c.544dup (p.Glu182fs)HMBSPathogenic11118962166118962167AAGcriteria provided, single submitter-
single nucleotide variantNM_000190.4(HMBS):c.517C>T (p.Arg173Trp)HMBSPathogenic/Likely pathogenic11118962141118962141CTcriteria provided, multiple submitters, no conflicts-