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_000128.4(F11):c.1107C>A (p.Tyr369Ter)F11Pathogenic/Likely pathogenic4187201706187201706CAcriteria provided, multiple submitters, no conflictsClinGen:CA199121
single nucleotide variantNM_000128.4(F11):c.1186C>T (p.Arg396Cys)F11Pathogenic/Likely pathogenic4187205296187205296CTcriteria provided, multiple submitters, no conflictsClinGen:CA199052
single nucleotide variantNM_000128.4(F11):c.1313C>A (p.Ser438Ter)F11Pathogenic/Likely pathogenic4187206800187206800CAcriteria provided, multiple submitters, no conflictsClinGen:CA199128
single nucleotide variantNM_000128.4(F11):c.1556G>A (p.Trp519Ter)F11Pathogenic/Likely pathogenic4187207644187207644GAcriteria provided, multiple submitters, no conflictsClinGen:CA199086
single nucleotide variantNM_000128.4(F11):c.1613C>T (p.Pro538Leu)F11Pathogenic/Likely pathogenic4187208874187208874CTcriteria provided, multiple submitters, no conflictsClinGen:CA199131,UniProtKB:P03951#VAR_054903
single nucleotide variantNM_000128.4(F11):c.1489C>T (p.Arg497Ter)F11Pathogenic/Likely pathogenic4187207577187207577CTcriteria provided, multiple submitters, no conflictsClinGen:CA3164011
single nucleotide variantNM_000128.4(F11):c.1432G>A (p.Gly478Arg)F11Pathogenic/Likely pathogenic4187206919187206919GAcriteria provided, multiple submitters, no conflictsClinGen:CA3163979
single nucleotide variantNM_000128.4(F11):c.1288G>A (p.Ala430Thr)F11Pathogenic/Likely pathogenic4187205398187205398GAcriteria provided, multiple submitters, no conflictsClinGen:CA3163944
DeletionNM_000128.4(F11):c.25_28del (p.His9fs)F11Likely pathogenic4187188315187188318ACATTAcriteria provided, single submitterClinGen:CA16040939
single nucleotide variantNM_000128.4(F11):c.218+1G>AF11Likely pathogenic4187192926187192926GAcriteria provided, multiple submitters, no conflictsClinGen:CA16040940