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


27 records found for search term Sfxn1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15191850CV735017single nucleotide variantNM_022754.7(SFXN1):c.141G>A (p.Ala47=)not provided [RCV000910367]benign5175492244175492244Humanname
401868602CV2788278single nucleotide variantNM_022754.7(SFXN1):c.38A>G (p.Glu13Gly)not specified [RCV004352868]uncertain significance5175492141175492141Humanname
597672724CV3595659single nucleotide variantNM_022754.7(SFXN1):c.29A>G (p.Asn10Ser)not specified [RCV004856599]uncertain significance5175492132175492132Humanname
598166651CV3921186single nucleotide variantNM_022754.7(SFXN1):c.666G>A (p.Ala222=)not specified [RCV005283701]likely benign5175513532175513532Humanname
15133688CV709833single nucleotide variantNM_022754.7(SFXN1):c.77A>G (p.Asn26Ser)not provided [RCV000964996]benign5175492180175492180Humanname
329362224CV2448436single nucleotide variantNM_022754.7(SFXN1):c.229T>G (p.Ser77Ala)not specified [RCV004256718]uncertain significance5175509096175509096Humanname
405764253CV3321559single nucleotide variantNM_022754.7(SFXN1):c.224A>G (p.Tyr75Cys)not specified [RCV004455851]uncertain significance5175509091175509091Humanname
405764259CV3321560single nucleotide variantNM_022754.7(SFXN1):c.240T>A (p.His80Gln)not specified [RCV004455852]uncertain significance5175509107175509107Humanname
405764266CV3321561single nucleotide variantNM_022754.7(SFXN1):c.242C>T (p.Pro81Leu)not specified [RCV004455853]uncertain significance5175509109175509109Humanname
407489991CV3484051single nucleotide variantNM_022754.7(SFXN1):c.211G>C (p.Ala71Pro)not specified [RCV004666204]uncertain significance5175509078175509078Humanname
597672717CV3595658single nucleotide variantNM_022754.7(SFXN1):c.181C>G (p.Pro61Ala)not specified [RCV004856598]uncertain significance5175509048175509048Humanname
598198564CV3921185single nucleotide variantNM_022754.7(SFXN1):c.212C>T (p.Ala71Val)not specified [RCV005268266]uncertain significance5175509079175509079Humanname
8631555CV86759single nucleotide variantNM_022754.5(SFXN1):c.124G>A (p.Glu42Lys)Malignant melanoma [RCV000066850]not provided5175492227175492227Humanname
156233332CV2197111single nucleotide variantNM_022754.7(SFXN1):c.475G>A (p.Val159Ile)not specified [RCV004071543]uncertain significance5175511491175511491Humanname
156252636CV2212464single nucleotide variantNM_022754.7(SFXN1):c.587T>C (p.Met196Thr)not specified [RCV004091362]uncertain significance5175512187175512187Humanname
156241061CV2246064single nucleotide variantNM_022754.7(SFXN1):c.565A>C (p.Asn189His)not specified [RCV004113975]uncertain significance5175512165175512165Humanname
156289360CV2299338single nucleotide variantNM_022754.7(SFXN1):c.472G>A (p.Ala158Thr)not specified [RCV004152651]uncertain significance5175511488175511488Humanname
156152120CV2318866single nucleotide variantNM_022754.7(SFXN1):c.364T>C (p.Trp122Arg)not specified [RCV004175771]uncertain significance5175510137175510137Humanname
156256834CV2322021single nucleotide variantNM_022754.7(SFXN1):c.829G>A (p.Val277Met)not specified [RCV004173774]uncertain significance5175522379175522379Humanname
156326109CV2335414single nucleotide variantNM_022754.7(SFXN1):c.898G>A (p.Ala300Thr)not specified [RCV004186966]uncertain significance5175526663175526663Humanname
329366026CV2438015single nucleotide variantNM_022754.7(SFXN1):c.653C>T (p.Ser218Leu)not specified [RCV004263722]uncertain significance5175513519175513519Humanname
401762449CV2696130single nucleotide variantNM_022754.7(SFXN1):c.764C>T (p.Ala255Val)not specified [RCV004310190]uncertain significance5175516653175516653Humanname
401768095CV2727380single nucleotide variantNM_022754.7(SFXN1):c.578T>C (p.Ile193Thr)not specified [RCV004327479]uncertain significance5175512178175512178Humanname
401890299CV2768064single nucleotide variantNM_022754.7(SFXN1):c.656C>T (p.Ala219Val)not specified [RCV004348300]uncertain significance5175513522175513522Humanname
401895810CV2772126single nucleotide variantNM_022754.7(SFXN1):c.415G>C (p.Asp139His)not specified [RCV004344777]uncertain significance5175510188175510188Humanname
405764273CV3321562single nucleotide variantNM_022754.7(SFXN1):c.692T>C (p.Val231Ala)not specified [RCV004455854]uncertain significance5175513558175513558Humanname
597672732CV3595660single nucleotide variantNM_022754.7(SFXN1):c.713C>G (p.Ala238Gly)not specified [RCV004856600]uncertain significance5175513579175513579Humanname