Knowledge base for genomic medicine in Japanese
多発性嚢胞腎
循環器・内分泌疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
deletionNM_001009944.3(PKD1):c.8754_8758del (p.Gly2919fs)PKD1Pathogenic1621533002153304AGCCCGAcriteria provided, multiple submitters, no conflicts-
short repeatNM_001009944.3(PKD1):c.6565_6566GT[3] (p.Tyr2190fs)PKD1Pathogenic1621585992158600TTACcriteria provided, single submitter-
deletionNM_000297.4(PKD2):c.1320-2delPKD2Pathogenic48896779288967792CACcriteria provided, single submitter-