Knowledge base for genomic medicine in Japanese
先天性第XI因子欠乏症
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000128.3(F11):c.1207G>A (p.Val403Met)F11Likely pathogenic4187205317187205317GAcriteria provided, single submitterUniProtKB (protein):P03951#VAR_067946,UniProtKB (variants):VAR_067946
single nucleotide variantNM_000128.3(F11):c.1693G>A (p.Glu565Lys)F11Likely pathogenic4187208954187208954GAcriteria provided, multiple submitters, no conflictsUniProtKB (protein):P03951#VAR_054904,UniProtKB (variants):VAR_054904
single nucleotide variantNM_000128.3(F11):c.1724C>T (p.Ser575Leu)F11Likely pathogenic4187209614187209614CTcriteria provided, single submitterUniProtKB (protein):P03951#VAR_067953,UniProtKB (variants):VAR_067953
single nucleotide variantNM_000128.3(F11):c.664G>T (p.Asp222Tyr)F11Likely pathogenic4187197453187197453GTcriteria provided, single submitterUniProtKB (protein):P03951#VAR_067936,UniProtKB (variants):VAR_067936
single nucleotide variantNM_000128.3(F11):c.943G>A (p.Glu315Lys)F11Likely pathogenic4187201454187201454GAcriteria provided, single submitterUniProtKB (protein):P03951#VAR_067942,UniProtKB (variants):VAR_067942
single nucleotide variantNM_000128.3(F11):c.1716+1G>AF11Pathogenic4187208978187208978GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:264900.0001
single nucleotide variantNM_000128.3(F11):c.403G>T (p.Glu135Ter)F11Pathogenic4187195347187195347GTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:264900.0002
single nucleotide variantNM_000128.3(F11):c.901T>C (p.Phe301Leu)F11Pathogenic/Likely pathogenic4187201412187201412TCcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:264900.0003,UniProtKB (protein):P03951#VAR_006622
single nucleotide variantNM_000128.3(F11):c.438C>A (p.Cys146Ter)F11Pathogenic/Likely pathogenic4187195382187195382CAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:264900.0007
single nucleotide variantNM_000128.3(F11):c.976C>T (p.Arg326Cys)F11Likely pathogenic4187201487187201487CTcriteria provided, single submitterOMIM Allelic Variant:264900.0009,UniProtKB (protein):P03951#VAR_012090