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)
DeletionNM_000132.4(F8):c.671-50_787+50delF8Likely pathogenicX154212912154213128TGGTGCTGAATTTGGAAGACCCTGAGGATTGTTGAGCAGGTGTGTACATACCTGGCAGAGACCTGTTTACATAACCATTGACTGTGTGCATTTTAGGCCAGGCCCGAGCAGATGCAGCATCCCTATCCTGCATCAAGGAGTTCTTTGTTTCTGAGTGCCAACTTTTCCCTGATGAGAGAGAAGGCAAAGATAGAGTCAGCTAAGCATGTGTCTCATGATcriteria provided, single submitter-
single nucleotide variantNM_000133.4(F9):c.88G>A (p.Val30Ile)F9PathogenicX138613011138613011GAcriteria provided, single submitter-
DeletionNC_000023.11:g.(?_139530701)_(139563439_?)delF9PathogenicX138612860138645598nanacriteria provided, single submitter-
DeletionNC_000023.10:g.(?_138612860)_(139587225_?)delF9PathogenicX138612860139587225nanacriteria provided, single submitter-
single nucleotide variantNM_000133.3(F9):c.-35G>AF9PathogenicX138612889138612889GAcriteria provided, single submitterOMIM:300746.0002,OMIM:300746.0003
single nucleotide variantNM_000132.4(F8):c.984T>G (p.Phe328Leu)F8Likely pathogenicX154197631154197631ACcriteria provided, multiple submitters, no conflicts-