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Variants search result for All species
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28 records found for search term Ska3
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
155988320CV2251206single nucleotide variantNM_145061.6(SKA3):c.26G>A (p.Gly9Glu)not specified [RCV004115432]uncertain significance132117645221176452Humanname
156152802CV2369318single nucleotide variantNM_145061.6(SKA3):c.63G>C (p.Glu21Asp)not specified [RCV004208226]uncertain significance132117641521176415Humanname
401910075CV2813756single nucleotide variantNM_145061.6(SKA3):c.657A>G (p.Lys219=)not provided [RCV003398329]likely benign132116807421168074Humanname
407450969CV3476963single nucleotide variantNM_145061.6(SKA3):c.38C>A (p.Ser13Tyr)not specified [RCV004669965]uncertain significance132117644021176440Humanname
155923876CV2217741single nucleotide variantNM_145061.6(SKA3):c.211G>C (p.Glu71Gln)not specified [RCV004083921]uncertain significance132117245921172459Humanname
401867110CV2780236single nucleotide variantNM_145061.6(SKA3):c.271A>G (p.Met91Val)not specified [RCV004355874]uncertain significance132117239921172399Humanname
156074245CV2201463single nucleotide variantNM_145061.6(SKA3):c.928T>C (p.Tyr310His)not specified [RCV004079615]uncertain significance132115811321158113Humanname
155978702CV2339966single nucleotide variantNM_145061.6(SKA3):c.365A>G (p.Glu122Gly)not specified [RCV004192225]uncertain significance132116836621168366Humanname
156165318CV2398803single nucleotide variantNM_145061.6(SKA3):c.545A>G (p.Tyr182Cys)not specified [RCV004245129]uncertain significance132116818621168186Humanname
401720687CV2702054single nucleotide variantNM_145061.6(SKA3):c.384T>G (p.Asn128Lys)not specified [RCV004320633]uncertain significance132116834721168347Humanname
405765104CV3332261single nucleotide variantNM_145061.6(SKA3):c.305A>G (p.Tyr102Cys)not specified [RCV004455992]uncertain significance132117236521172365Humanname
405765109CV3332262single nucleotide variantNM_145061.6(SKA3):c.461G>A (p.Arg154His)not specified [RCV004455993]uncertain significance132116827021168270Humanname
405765115CV3332263single nucleotide variantNM_145061.6(SKA3):c.514C>G (p.Leu172Val)not specified [RCV004455994]uncertain significance132116821721168217Humanname
405765120CV3332264single nucleotide variantNM_145061.6(SKA3):c.863C>A (p.Thr288Lys)not specified [RCV004455995]uncertain significance132115995421159954Humanname
405765127CV3332265single nucleotide variantNM_145061.6(SKA3):c.916G>A (p.Val306Ile)not specified [RCV004455996]uncertain significance132115812521158125Humanname
405765133CV3332266single nucleotide variantNM_145061.6(SKA3):c.986C>T (p.Ser329Leu)not specified [RCV004455997]uncertain significance132115805521158055Humanname
407502472CV3476964single nucleotide variantNM_145061.6(SKA3):c.911C>T (p.Ala304Val)not specified [RCV004669966]uncertain significance132115990621159906Humanname
597739331CV3596110single nucleotide variantNM_145061.6(SKA3):c.630G>A (p.Met210Ile)not specified [RCV004864443]uncertain significance132116810121168101Humanname
597739339CV3596112single nucleotide variantNM_145061.6(SKA3):c.673A>G (p.Ile225Val)not specified [RCV004864445]uncertain significance132116805821168058Humanname
598258604CV3910899single nucleotide variantNM_145061.6(SKA3):c.723A>C (p.Lys241Asn)not specified [RCV005279414]uncertain significance132116800821168008Humanname
598258622CV3910902single nucleotide variantNM_145061.6(SKA3):c.728C>T (p.Ala243Val)not specified [RCV005279417]likely benign132116800321168003Humanname
598258629CV3910903single nucleotide variantNM_145061.6(SKA3):c.460C>T (p.Arg154Cys)not specified [RCV005279418]uncertain significance132116827121168271Humanname
156254198CV2193232single nucleotide variantNM_145061.6(SKA3):c.1177C>T (p.Pro393Ser)not specified [RCV004071216]uncertain significance132115575421155754Humanname
401757687CV2731391single nucleotide variantNM_145061.6(SKA3):c.1174C>A (p.Pro392Thr)not specified [RCV004330754]uncertain significance132115575721155757Humanname
401877911CV2757687single nucleotide variantNM_145061.6(SKA3):c.1042A>T (p.Thr348Ser)not specified [RCV004334796]uncertain significance132115799921157999Humanname
597739326CV3596109single nucleotide variantNM_145061.6(SKA3):c.1064T>G (p.Leu355Arg)not specified [RCV004864442]uncertain significance132115797721157977Humanname
598258610CV3910900single nucleotide variantNM_145061.6(SKA3):c.1028A>C (p.Asp343Ala)not specified [RCV005279415]uncertain significance132115801321158013Humanname
598258616CV3910901single nucleotide variantNM_145061.6(SKA3):c.1021T>G (p.Leu341Val)not specified [RCV005279416]uncertain significance132115802021158020Humanname