Knowledge base for genomic medicine in Japanese
血友病A/B
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000133.3(F9):c.278-3A>GF9PathogenicX138623232138623232AGcriteria provided, single submitterOMIM Allelic Variant:300746.0113
single nucleotide variantNM_000133.3(F9):c.1144T>A (p.Cys382Ser)F9Likely pathogenicX138643988138643988TAcriteria provided, single submitter-
single nucleotide variantNM_000132.3(F8):c.6683G>A (p.Arg2228Gln)F8PathogenicX154090033154090033CTcriteria provided, single submitterOMIM Allelic Variant:300841.0014,UniProtKB (protein):P00451#VAR_001203
single nucleotide variantNM_000132.3(F8):c.5879G>A (p.Arg1960Gln)F8PathogenicX154132300154132300CTcriteria provided, single submitterOMIM Allelic Variant:300841.0026,UniProtKB (protein):P00451#VAR_001170
single nucleotide variantNM_000132.3(F8):c.1172G>A (p.Arg391His)F8PathogenicX154194800154194800CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:300841.0027,UniProtKB (protein):P00451#VAR_001090
single nucleotide variantNM_000132.3(F8):c.5122C>T (p.Arg1708Cys)F8PathogenicX154156943154156943GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:300841.0030,UniProtKB (protein):P00451#VAR_001140
single nucleotide variantNM_000132.3(F8):c.5096A>T (p.Tyr1699Phe)F8PathogenicX154156969154156969TAcriteria provided, single submitterOMIM Allelic Variant:300841.0031,UniProtKB (protein):P00451#VAR_001139
single nucleotide variantNM_000132.3(F8):c.6977G>A (p.Arg2326Gln)F8Pathogenic/Likely pathogenicX154065951154065951CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:300841.0042,UniProtKB (protein):P00451#VAR_001212
single nucleotide variantNM_000132.3(F8):c.43C>T (p.Arg15Ter)F8PathogenicX154250785154250785GAcriteria provided, single submitterOMIM Allelic Variant:300841.0069
single nucleotide variantNM_000132.3(F8):c.323A>C (p.Lys108Thr)F8PathogenicX154225313154225313TGcriteria provided, single submitterOMIM Allelic Variant:300841.0084,UniProtKB (protein):P00451#VAR_001054