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)
copy number lossGRCh38/hg38 Xp22.11(chrX:22099135-22109767)x0PHEXPathogenicX2211725322127885nanacriteria provided, single submitterdbVar:nssv578423,dbVar:nsv531752
single nucleotide variantNM_000444.6(PHEX):c.1664T>C (p.Leu555Pro)PHEXPathogenicX2223103922231039TCcriteria provided, single submitterOMIM Allelic Variant:300550.0007,UniProtKB (protein):P78562#VAR_010627
single nucleotide variantNM_000444.6(PHEX):c.1699C>T (p.Arg567Ter)PHEXPathogenicX2223107422231074CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:300550.0010
single nucleotide variantNM_000444.6(PHEX):c.1404+2T>GPHEXLikely pathogenicX2215174322151743TGcriteria provided, single submitter-
single nucleotide variantNM_000444.6(PHEX):c.1589G>A (p.Trp530Ter)PHEXLikely pathogenicX2220856322208563GAcriteria provided, single submitter-
single nucleotide variantNM_000444.6(PHEX):c.1949T>C (p.Leu650Pro)PHEXLikely pathogenicX2224460922244609TCcriteria provided, single submitter-
single nucleotide variantNM_000444.6(PHEX):c.1999G>T (p.Gly667Ter)PHEXPathogenic/Likely pathogenicX2224565722245657GTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000444.6(PHEX):c.318G>A (p.Trp106Ter)PHEXPathogenic/Likely pathogenicX2206529822065298GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000444.6(PHEX):c.349+1G>CPHEXLikely pathogenicX2206533022065330GCcriteria provided, multiple submitters, no conflicts-
duplicationNM_000444.6(PHEX):c.884_885dup (p.Met296fs)PHEXLikely pathogenicX2211510622115107GGCCcriteria provided, single submitter-