Knowledge base for genomic medicine in Japanese
X染色体連鎖性低リン血症性くる病
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DuplicationNM_000444.6(PHEX):c.78dup (p.Val27fs)PHEXPathogenicX2205119822051199GGTcriteria provided, single submitterClinGen:CA645509368
single nucleotide variantNM_000444.6(PHEX):c.119-3C>GPHEXPathogenicX2205658422056584CGcriteria provided, single submitterClinGen:CA645509369
single nucleotide variantNM_000444.6(PHEX):c.142C>T (p.Gln48Ter)PHEXPathogenicX2205661022056610CTcriteria provided, single submitterClinGen:CA412564842
single nucleotide variantNM_000444.6(PHEX):c.181G>T (p.Glu61Ter)PHEXPathogenicX2205664922056649GTcriteria provided, single submitterClinGen:CA412566013
single nucleotide variantNM_000444.6(PHEX):c.187+1G>TPHEXPathogenicX2205665622056656GTcriteria provided, single submitterClinGen:CA412566073
DeletionNM_000444.6(PHEX):c.187+1delPHEXPathogenicX2205665422056654CGCcriteria provided, multiple submitters, no conflictsClinGen:CA645509370
single nucleotide variantNM_000444.6(PHEX):c.230G>T (p.Cys77Phe)PHEXPathogenicX2206521022065210GTcriteria provided, multiple submitters, no conflictsClinGen:CA412567578
single nucleotide variantNM_000444.6(PHEX):c.253T>C (p.Cys85Arg)PHEXPathogenicX2206523322065233TCcriteria provided, single submitterClinGen:CA412567630
single nucleotide variantNM_000444.6(PHEX):c.415T>A (p.Tyr139Asn)PHEXPathogenicX2209457122094571TAcriteria provided, single submitterClinGen:CA412571162
DeletionNM_000444.6(PHEX):c.424del (p.Cys142fs)PHEXPathogenicX2209458022094580CTCcriteria provided, single submitterClinGen:CA645509371