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.448G>C (p.Ala150Pro)ALDOBPathogenic9104189856104189856CGcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:612724.0001,UniProtKB (protein):P05062#VAR_000553
single nucleotide variantNM_000035.4(ALDOB):c.524C>A (p.Ala175Asp)ALDOBPathogenic9104189780104189780GTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:612724.0002,UniProtKB (protein):P05062#VAR_000554
single nucleotide variantNM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys)ALDOBPathogenic/Likely pathogenic9104184181104184181GCcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:612724.0006,UniProtKB (protein):P05062#VAR_000557
single nucleotide variantNM_000035.4(ALDOB):c.10C>T (p.Arg4Ter)ALDOBPathogenic/Likely pathogenic9104193160104193160GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:612724.0008
single nucleotide variantNM_000035.4(ALDOB):c.178C>T (p.Arg60Ter)ALDOBPathogenic/Likely pathogenic9104192183104192183GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:612724.0009
single nucleotide variantNM_000035.4(ALDOB):c.1013C>T (p.Ala338Val)ALDOBPathogenic/Likely pathogenic9104184173104184173GAcriteria provided, multiple submitters, no conflictsUniProtKB (protein):P05062#VAR_000558
single nucleotide variantNM_000035.4(ALDOB):c.625-2A>GALDOBLikely pathogenic9104187911104187911TCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter)ALDOBPathogenic/Likely pathogenic9104188849104188849ATcriteria provided, multiple submitters, no conflicts-
short repeatNM_000035.4(ALDOB):c.356_359CAAA[1] (p.Asn120fs)ALDOBPathogenic/Likely pathogenic9104190767104190770CTTTGCcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:612724.0004
single nucleotide variantNM_000035.4(ALDOB):c.324G>A (p.Lys108=)ALDOBPathogenic/Likely pathogenic9104192037104192037CTcriteria provided, multiple submitters, no conflicts-