Knowledge base for genomic medicine in Japanese
遺伝性フルクトース不耐症
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000035.4(ALDOB):c.-11+1G>CALDOBPathogenic/Likely pathogenic9104197990104197990CGcriteria provided, multiple submitters, no conflictsClinGen:CA196959550
single nucleotide variantNM_000035.4(ALDOB):c.324+2T>AALDOBPathogenic/Likely pathogenic9104192035104192035ATcriteria provided, multiple submitters, no conflictsClinGen:CA16041288
single nucleotide variantNM_000035.4(ALDOB):c.444G>A (p.Trp148Ter)ALDOBPathogenic/Likely pathogenic9104189860104189860CTcriteria provided, multiple submitters, no conflictsClinGen:CA16041285
single nucleotide variantNM_000035.4(ALDOB):c.888G>A (p.Trp296Ter)ALDOBPathogenic/Likely pathogenic9104187236104187236CTcriteria provided, multiple submitters, no conflictsClinGen:CA16041283
DeletionNM_000035.4(ALDOB):c.113-1_115delALDOBPathogenic/Likely pathogenic9104192246104192249GTACCGcriteria provided, multiple submitters, no conflictsClinGen:CA199107
single nucleotide variantNM_000035.4(ALDOB):c.324G>A (p.Lys108=)ALDOBPathogenic/Likely pathogenic9104192037104192037CTcriteria provided, multiple submitters, no conflictsClinGen:CA199056
single nucleotide variantNM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter)ALDOBPathogenic/Likely pathogenic9104188849104188849ATcriteria provided, multiple submitters, no conflictsClinGen:CA199058
single nucleotide variantNM_000035.4(ALDOB):c.1013C>T (p.Ala338Val)ALDOBPathogenic/Likely pathogenic9104184173104184173GAcriteria provided, multiple submitters, no conflictsClinGen:CA199050,UniProtKB:P05062#VAR_000558
single nucleotide variantNM_000035.4(ALDOB):c.178C>T (p.Arg60Ter)ALDOBPathogenic/Likely pathogenic9104192183104192183GAcriteria provided, multiple submitters, no conflictsClinGen:CA339813,OMIM:612724.0009
single nucleotide variantNM_000035.4(ALDOB):c.10C>T (p.Arg4Ter)ALDOBPathogenic/Likely pathogenic9104193160104193160GAcriteria provided, multiple submitters, no conflictsClinGen:CA114310,OMIM:612724.0008