Knowledge base for genomic medicine in Japanese
WAS関連疾患
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000377.2(WAS):c.257G>A (p.Arg86His)WASPathogenicX4854279648542796GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:300392.0003,UniProtKB (protein):P42768#VAR_005830
single nucleotide variantNM_000377.2(WAS):c.134C>T (p.Thr45Met)WASPathogenicX4854267348542673CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:300392.0010,UniProtKB (protein):P42768#VAR_008106
deletionNM_000377.2(WAS):c.11del (p.Gly4fs)WASPathogenicX4854224948542249TGTcriteria provided, single submitterOMIM Allelic Variant:300392.0019
single nucleotide variantNM_000377.2(WAS):c.881T>C (p.Ile294Thr)WASPathogenicX4854679248546792TCcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:300392.0025
single nucleotide variantNM_000377.2(WAS):c.310C>T (p.Gln104Ter)WASLikely pathogenicX4854397248543972CTcriteria provided, single submitter-
single nucleotide variantNM_000377.2(WAS):c.37C>T (p.Arg13Ter)WASPathogenicX4854227948542279CTcriteria provided, multiple submitters, no conflicts-
duplicationNM_000377.2(WAS):c.763dup (p.Gln255fs)WASLikely pathogenicX4854646648546467AACcriteria provided, single submitter-
single nucleotide variantNM_000377.2(WAS):c.223G>A (p.Val75Met)WASPathogenicX4854276248542762GAcriteria provided, multiple submitters, no conflictsUniProtKB (protein):P42768#VAR_005828
single nucleotide variantNM_000377.2(WAS):c.559+5G>CWASLikely pathogenicX4854452848544528GCcriteria provided, single submitter-
duplicationNM_000377.2(WAS):c.1157dup (p.Gly387fs)WASPathogenicX4854726948547270AACcriteria provided, single submitter-