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.43C>T (p.Arg15Ter)F8PathogenicX154250785154250785GAcriteria provided, multiple submitters, no conflictsClinGen:CA255044,OMIM:300841.0069
single nucleotide variantNM_000132.4(F8):c.121G>T (p.Gly41Cys)F8PathogenicX154250707154250707CAcriteria provided, single submitterClinGen:CA255048,UniProtKB:P00451#VAR_001047,OMIM:300841.0073
single nucleotide variantNM_000132.4(F8):c.143G>A (p.Arg48Lys)F8Likely pathogenicX154250685154250685CTcriteria provided, single submitter-
DeletionNM_000132.4(F8):c.209_212del (p.Leu69_Phe70insTer)F8PathogenicX154227807154227810TACAATcriteria provided, multiple submitters, no conflictsClinGen:CA255050,OMIM:300841.0076
DeletionNM_000132.4(F8):c.270del (p.Leu90_Leu91insTer)F8PathogenicX154225366154225366GCGcriteria provided, single submitterClinGen:CA645509239
single nucleotide variantNM_000132.4(F8):c.323A>C (p.Lys108Thr)F8PathogenicX154225313154225313TGcriteria provided, multiple submitters, no conflictsClinGen:CA255056,UniProtKB:P00451#VAR_001054,OMIM:300841.0084
DeletionNM_000132.4(F8):c.379del (p.Ala127fs)F8PathogenicX154225257154225257GCGcriteria provided, single submitter-
single nucleotide variantNM_000132.4(F8):c.460A>C (p.Thr154Pro)F8Likely pathogenicX154221352154221352TGcriteria provided, single submitter-
single nucleotide variantNM_000132.4(F8):c.493C>T (p.Pro165Ser)F8Likely pathogenicX154221319154221319GAcriteria provided, multiple submitters, no conflictsClinGen:CA255065,UniProtKB:P00451#VAR_001064,OMIM:300841.0093
single nucleotide variantNM_000132.4(F8):c.541G>A (p.Val181Met)F8PathogenicX154221271154221271CTcriteria provided, multiple submitters, no conflictsClinGen:CA255066,UniProtKB:P00451#VAR_001065,OMIM:300841.0094