Knowledge base for genomic medicine in Japanese
シスチノーシス
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_004937.3(CTNS):c.414G>A (p.Trp138Ter)CTNSPathogenic1735585993558599GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:606272.0003
single nucleotide variantNM_004937.3(CTNS):c.589G>A (p.Gly197Arg)CTNSPathogenic/Likely pathogenic1735599973559997GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:606272.0011,UniProtKB (protein):O60931#VAR_010682
single nucleotide variantNM_004937.3(CTNS):c.1015G>A (p.Gly339Arg)CTNSPathogenic1735635743563574GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:606272.0015,UniProtKB (protein):O60931#VAR_010695
single nucleotide variantNM_004937.3(CTNS):c.416C>T (p.Ser139Phe)CTNSLikely pathogenic1735586013558601CTcriteria provided, single submitterOMIM Allelic Variant:606272.0018,UniProtKB (protein):O60931#VAR_010678
deletionNM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del)CTNSPathogenic/Likely pathogenic1735521983552218ATATTACTATCCTTGAGCTCCCAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004937.3(CTNS):c.473T>C (p.Leu158Pro)CTNSLikely pathogenic1735597923559792TCcriteria provided, single submitterUniProtKB (protein):O60931#VAR_010680
single nucleotide variantNM_004937.3(CTNS):c.613G>A (p.Asp205Asn)CTNSPathogenic1735600213560021GAcriteria provided, single submitterUniProtKB (protein):O60931#VAR_010683
deletionNM_004937.3(CTNS):c.559_561+24delCTNSPathogenic/Likely pathogenic1735598673559893GTGCCCTACATCAAGGTACGGCCTTGCCGcriteria provided, multiple submitters, no conflicts-
deletionNM_004937.3(CTNS):c.18_21del (p.Thr7fs)CTNSPathogenic1735435163543519GCTGAGcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:606272.0004
deletionNM_004937.3(CTNS):c.199_219del (p.Ile67_Pro73del)CTNSLikely pathogenic1735521993552219TATTACTATCCTTGAGCTCCCCTcriteria provided, single submitter-