Knowledge base for genomic medicine in Japanese
遺伝性圧脆弱性ニューロパチー
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000304.4(PMP22):c.47T>C (p.Leu16Pro)PMP22Pathogenic171516399815163998AGcriteria provided, single submitterOMIM Allelic Variant:601097.0002,UniProtKB (protein):Q01453#VAR_006360
single nucleotide variantNM_000304.4(PMP22):c.206T>A (p.Met69Lys)PMP22Pathogenic171514290115142901ATcriteria provided, single submitterOMIM Allelic Variant:601097.0006,UniProtKB (protein):Q01453#VAR_006362
single nucleotide variantNM_000304.4(PMP22):c.215C>T (p.Ser72Leu)PMP22Pathogenic171514289215142892GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:601097.0007,UniProtKB (protein):Q01453#VAR_006363
single nucleotide variantNM_000304.4(PMP22):c.36C>A (p.His12Gln)PMP22Pathogenic/Likely pathogenic171516400915164009GTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:601097.0008,UniProtKB (protein):Q01453#VAR_006359
single nucleotide variantNM_000304.4(PMP22):c.199G>C (p.Ala67Pro)PMP22Pathogenic/Likely pathogenic171514290815142908CGcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:601097.0010,UniProtKB (protein):Q01453#VAR_009661
duplicationNM_000304.4(PMP22):c.281dup (p.Arg95fs)PMP22Pathogenic/Likely pathogenic171514282515142826GGCcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:601097.0011
single nucleotide variantNM_000304.4(PMP22):c.199G>A (p.Ala67Thr)PMP22Likely pathogenic171514290815142908CTcriteria provided, single submitterOMIM Allelic Variant:601097.0017,UniProtKB (protein):Q01453#VAR_029965
deletionNM_000304.4(PMP22):c.434del (p.Leu145fs)PMP22Pathogenic171513428315134283CACcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000304.4(PMP22):c.327C>A (p.Cys109Ter)PMP22Pathogenic171513439015134390GTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000304.4(PMP22):c.235T>A (p.Ser79Thr)PMP22Likely pathogenic171514287215142872ATcriteria provided, multiple submitters, no conflicts-