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.33+1G>AHMBSPathogenic11118955777118955777GAcriteria provided, single submitterOMIM:609806.0001
single nucleotide variantNM_000190.4(HMBS):c.77G>A (p.Arg26His)HMBSPathogenic11118959008118959008GAcriteria provided, single submitterUniProtKB:P08397#VAR_003639,OMIM:609806.0015,ClinGen:CA251791
single nucleotide variantNM_000190.4(HMBS):c.33+1G>THMBSPathogenic11118955777118955777GTcriteria provided, single submitterOMIM:609806.0003
single nucleotide variantNM_000190.4(HMBS):c.346C>T (p.Arg116Trp)HMBSPathogenic11118960701118960701CTcriteria provided, multiple submitters, no conflictsClinGen:CA251793,UniProtKB:P08397#VAR_003647,OMIM:609806.0004
single nucleotide variantNM_000190.4(HMBS):c.500G>A (p.Arg167Gln)HMBSPathogenic/Likely pathogenic11118962124118962124GAcriteria provided, multiple submitters, no conflictsClinGen:CA251795,UniProtKB:P08397#VAR_003651,OMIM:609806.0005
single nucleotide variantNM_000190.4(HMBS):c.518G>A (p.Arg173Gln)HMBSPathogenic11118962142118962142GAcriteria provided, single submitterClinGen:CA251797,UniProtKB:P08397#VAR_003653,OMIM:609806.0006
single nucleotide variantNM_000190.4(HMBS):c.499C>T (p.Arg167Trp)HMBSPathogenic11118962123118962123CTcriteria provided, multiple submitters, no conflictsClinGen:CA251813,UniProtKB:P08397#VAR_003652,OMIM:609806.0013
single nucleotide variantNM_000190.4(HMBS):c.601C>T (p.Arg201Trp)HMBSPathogenic/Likely pathogenic11118962225118962225CTcriteria provided, multiple submitters, no conflictsOMIM:609806.0026,ClinGen:CA251820,UniProtKB:P08397#VAR_003657
single nucleotide variantNM_000190.4(HMBS):c.331G>A (p.Gly111Arg)HMBSPathogenic/Likely pathogenic11118960457118960457GAcriteria provided, multiple submitters, no conflictsClinGen:CA251822,UniProtKB:P08397#VAR_003645,OMIM:609806.0023
single nucleotide variantNM_000190.4(HMBS):c.499-1G>AHMBSPathogenic11118962122118962122GAcriteria provided, single submitterOMIM:609806.0024