Knowledge base for genomic medicine in Japanese
遺伝性乳頭状腎細胞がん
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000245.4(MET):c.3392T>C (p.Met1131Thr)METPathogenic7116418881116418881TCcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:164860.0001
single nucleotide variantNM_000245.4(MET):c.3658G>A (p.Val1220Ile)METPathogenic/Likely pathogenic7116423383116423383GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:164860.0003
single nucleotide variantNM_000245.4(MET):c.3281A>G (p.His1094Arg)METPathogenic7116417464116417464AGcriteria provided, multiple submitters, no conflictsHGMD:CM981285,OMIM Allelic Variant:164860.0007
single nucleotide variantNM_000245.4(MET):c.2521T>G (p.Phe841Val)METPathogenic7116403260116403260TGcriteria provided, single submitterOMIM Allelic Variant:164860.0012,UniProtKB (protein):P08581#VAR_075757
single nucleotide variantNM_000245.4(MET):c.3274G>A (p.Val1092Ile)METPathogenic7116417457116417457GAcriteria provided, multiple submitters, no conflicts-