Knowledge base for genomic medicine in Japanese
PTEN過誤腫症候群
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DuplicationNM_000314.8(PTEN):c.829dup (p.Thr277fs)PTENPathogenic108972067789720678TTAcriteria provided, multiple submitters, no conflicts-
DeletionNM_000314.8(PTEN):c.840_841del (p.Pro281fs)PTENPathogenic108972068989720690TACTcriteria provided, single submitter-
IndelNM_000314.8(PTEN):c.863_865delinsCT (p.Glu288fs)PTENPathogenic108972071289720714AAACTcriteria provided, single submitter-
DeletionNM_000314.8(PTEN):c.956_960del (p.Thr319fs)PTENPathogenic108972080289720806CTTACTCcriteria provided, multiple submitters, no conflicts-
DeletionNM_000314.8(PTEN):c.968del (p.Asn323fs)PTENPathogenic108972081289720812CACcriteria provided, multiple submitters, no conflicts-
DeletionNC_000010.11:g.(?_86875868)_(87894129_?)delPTENPathogenic108863562589653886nanacriteria provided, single submitter-
DeletionNC_000010.11:g.(?_87931026)_(87958039_?)delPTENPathogenic108969078389717796nanacriteria provided, single submitter-
DeletionNC_000010.11:g.(?_87894015)_(87965482_?)delPTENPathogenic108965377289725239nanacriteria provided, single submitter-
DeletionNC_000010.11:g.(?_87931036)_(87931099_?)delPTENPathogenic108969079389690856nanacriteria provided, single submitter-
DeletionNM_000314.8(PTEN):c.723del (p.Phe241fs)PTENPathogenic108971769689717696CTCcriteria provided, multiple submitters, no conflicts-