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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


13 records found for search term Mrps17
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
401922613CV2825705single nucleotide variantNM_015969.3(MRPS17):c.124-6C>Gnot provided [RCV003433841]likely benign75595490355954903Humanname
401772630CV2712830single nucleotide variantNM_015969.3(MRPS17):c.55G>A (p.Gly19Arg)not specified [RCV004314249]uncertain significance75595325055953250Humanname
401855986CV2754191single nucleotide variantNM_015969.3(MRPS17):c.59C>G (p.Thr20Arg)not specified [RCV004334381]uncertain significance75595325455953254Humanname
597634217CV3557375single nucleotide variantNM_015969.3(MRPS17):c.53T>C (p.Ile18Thr)not specified [RCV004830956]uncertain significance75595324855953248Humanname
598179166CV3993493single nucleotide variantNM_015969.3(MRPS17):c.40G>T (p.Val14Leu)not specified [RCV005371885]uncertain significance75595323555953235Humanname
156316843CV2193114single nucleotide variantNM_015969.3(MRPS17):c.253G>A (p.Val85Ile)not specified [RCV004071118]likely benign75595503855955038Humanname
156285205CV2317614single nucleotide variantNM_015969.3(MRPS17):c.104T>G (p.Leu35Arg)not specified [RCV004172554]uncertain significance75595329955953299Humanname
329397289CV2460103single nucleotide variantNM_015969.3(MRPS17):c.290G>A (p.Gly97Glu)not specified [RCV004273218]uncertain significance75595507555955075Humanname
401884741CV2766217single nucleotide variantNM_015969.3(MRPS17):c.113A>G (p.Tyr38Cys)not specified [RCV004340656]uncertain significance75595330855953308Humanname
597634211CV3557374single nucleotide variantNM_015969.3(MRPS17):c.146A>G (p.Tyr49Cys)not specified [RCV004830955]uncertain significance75595493155954931Humanname
597634222CV3557376single nucleotide variantNM_015969.3(MRPS17):c.179T>C (p.Val60Ala)not specified [RCV004830957]uncertain significance75595496455954964Humanname
598179172CV3993494single nucleotide variantNM_015969.3(MRPS17):c.151G>T (p.Ala51Ser)not specified [RCV005371886]uncertain significance75595493655954936Humanname
401758284CV2704266single nucleotide variantNM_015969.3(MRPS17):c.356A>G (p.Lys119Arg)not specified [RCV004311260]uncertain significance75595514155955141Humanname