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_000132.4(F8):c.902G>A (p.Arg301His)F8PathogenicX154197713154197713CTcriteria provided, multiple submitters, no conflictsClinGen:CA255079,UniProtKB:P00451#VAR_001077,OMIM:300841.0109
single nucleotide variantNM_000132.4(F8):c.923C>T (p.Ser308Leu)F8PathogenicX154197692154197692GAcriteria provided, single submitterClinGen:CA255082,UniProtKB:P00451#VAR_001079,OMIM:300841.0112
single nucleotide variantNM_000132.4(F8):c.935T>C (p.Phe312Ser)F8PathogenicX154197680154197680AGcriteria provided, multiple submitters, no conflictsClinGen:CA255083,UniProtKB:P00451#VAR_001080,OMIM:300841.0113
single nucleotide variantNM_000132.4(F8):c.986G>A (p.Cys329Tyr)F8Likely pathogenicX154197629154197629CTcriteria provided, single submitterClinGen:CA255089,OMIM:300841.0118
single nucleotide variantNM_000132.4(F8):c.1175C>T (p.Ser392Leu)F8Likely pathogenicX154194797154194797GAcriteria provided, single submitterClinGen:CA255095,UniProtKB:P00451#VAR_001092,OMIM:300841.0122
single nucleotide variantNM_000132.4(F8):c.1492G>A (p.Gly498Arg)F8PathogenicX154189395154189395CTcriteria provided, multiple submitters, no conflictsClinGen:CA255109,UniProtKB:P00451#VAR_001105,OMIM:300841.0134
single nucleotide variantNM_000132.4(F8):c.1636C>T (p.Arg546Trp)F8Pathogenic/Likely pathogenicX154185348154185348GAcriteria provided, multiple submitters, no conflictsClinGen:CA255112,UniProtKB:P00451#VAR_001107,OMIM:300841.0139
single nucleotide variantNM_000132.4(F8):c.1648C>G (p.Arg550Gly)F8Likely pathogenicX154185336154185336GCcriteria provided, single submitterClinGen:CA255114,UniProtKB:P00451#VAR_001109,OMIM:300841.0141
single nucleotide variantNM_000132.4(F8):c.1649G>A (p.Arg550His)F8PathogenicX154185335154185335CTcriteria provided, multiple submitters, no conflictsClinGen:CA255115,UniProtKB:P00451#VAR_001110,OMIM:300841.0142
single nucleotide variantNM_000132.4(F8):c.1660A>G (p.Ser554Gly)F8Pathogenic/Likely pathogenicX154185324154185324TCcriteria provided, multiple submitters, no conflictsClinGen:CA255116,UniProtKB:P00451#VAR_001111,OMIM:300841.0143