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.77G>A (p.Arg26His)HMBSPathogenic11118959008118959008GAcriteria provided, single submitterOMIM Allelic Variant:609806.0015,UniProtKB (protein):P08397#VAR_003639
single nucleotide variantNM_000190.4(HMBS):c.346C>T (p.Arg116Trp)HMBSPathogenic11118960701118960701CTcriteria provided, single submitterOMIM Allelic Variant:609806.0004,UniProtKB (protein):P08397#VAR_003647
single nucleotide variantNM_000190.4(HMBS):c.500G>A (p.Arg167Gln)HMBSPathogenic/Likely pathogenic11118962124118962124GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:609806.0005,UniProtKB (protein):P08397#VAR_003651
single nucleotide variantNM_000190.4(HMBS):c.499C>T (p.Arg167Trp)HMBSPathogenic11118962123118962123CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:609806.0013,UniProtKB (protein):P08397#VAR_003652
single nucleotide variantNM_000190.4(HMBS):c.601C>T (p.Arg201Trp)HMBSPathogenic/Likely pathogenic11118962225118962225CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:609806.0026,UniProtKB (protein):P08397#VAR_003657
single nucleotide variantNM_000190.4(HMBS):c.530T>G (p.Leu177Arg)HMBSPathogenic11118962154118962154TGcriteria provided, single submitterOMIM Allelic Variant:609806.0025,UniProtKB (protein):P08397#VAR_003655
single nucleotide variantNM_000190.4(HMBS):c.849G>A (p.Trp283Ter)HMBSPathogenic11118963668118963668GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:609806.0043
single nucleotide variantNM_000190.4(HMBS):c.445C>T (p.Arg149Ter)HMBSPathogenic11118960922118960922CTcriteria provided, single submitterOMIM Allelic Variant:609806.0046
single nucleotide variantNM_000190.4(HMBS):c.583C>T (p.Arg195Cys)HMBSPathogenic11118962207118962207CTcriteria provided, single submitterUniProtKB (protein):P08397#VAR_003656
deletionNM_000190.4(HMBS):c.400del (p.Thr133_Leu134insTer)HMBSPathogenic11118960753118960753ACAcriteria provided, single submitter-