Knowledge base for genomic medicine in Japanese
家族性トランスサイレチンアミロイドーシス
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000371.4(TTR):c.148G>A (p.Val50Met)TTRPathogenic182917293729172937GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:176300.0001,UniProtKB (protein):P02766#VAR_007554
single nucleotide variantNM_000371.3(TTR):c.401A>G (p.Tyr134Cys)TTRPathogenic182917859529178595AGcriteria provided, single submitterOMIM Allelic Variant:176300.0011,UniProtKB (protein):P02766#VAR_007595
single nucleotide variantNM_000371.3(TTR):c.233T>A (p.Leu78His)TTRPathogenic182917511529175115TAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:176300.0003,UniProtKB (protein):P02766#VAR_007570
single nucleotide variantNM_000371.4(TTR):c.238A>G (p.Thr80Ala)TTRPathogenic182917512029175120AGcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:176300.0004,UniProtKB (protein):P02766#VAR_007573
single nucleotide variantNM_000371.3(TTR):c.290C>A (p.Ser97Tyr)TTRPathogenic182917517229175172CAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:176300.0005,UniProtKB (protein):P02766#VAR_007582
single nucleotide variantNM_000371.3(TTR):c.311T>G (p.Ile104Ser)TTRPathogenic182917519329175193TGcriteria provided, single submitterOMIM Allelic Variant:176300.0006,UniProtKB (protein):P02766#VAR_007584
single nucleotide variantNM_000371.4(TTR):c.424G>A (p.Val142Ile)TTRPathogenic/Likely pathogenic182917861829178618GAcriteria provided, multiple submitters, no conflictsHGMD:CM900219,OMIM Allelic Variant:176300.0009,UniProtKB (protein):P02766#VAR_007600
single nucleotide variantNM_000371.3(TTR):c.210T>G (p.Ser70Arg)TTRPathogenic182917509229175092TGcriteria provided, single submitterOMIM Allelic Variant:176300.0013,UniProtKB (protein):P02766#VAR_007566
single nucleotide variantNM_000371.3(TTR):c.149T>C (p.Val50Ala)TTRPathogenic182917293829172938TCcriteria provided, single submitterOMIM Allelic Variant:176300.0014,UniProtKB (protein):P02766#VAR_007552
single nucleotide variantNM_000371.3(TTR):c.148G>C (p.Val50Leu)TTRPathogenic182917293729172937GCcriteria provided, single submitterOMIM Allelic Variant:176300.0024,UniProtKB (protein):P02766#VAR_007553