Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


46 records found for search term Slc7a6os
Refine Term:
Assembly:
    Chr  
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
156164790CV2270293single nucleotide variantNM_032178.3(SLC7A6OS):c.7G>T (p.Ala3Ser)not specified [RCV004135505]uncertain significance166831092068310920Humanname
156105887CV2217718single nucleotide variantNM_032178.3(SLC7A6OS):c.13A>G (p.Arg5Gly)not specified [RCV004083900]uncertain significance166831091468310914Humanname
401903361CV2817596single nucleotide variantNM_032178.3(SLC7A6OS):c.168C>T (p.His56=)not provided [RCV003419383]likely benign166831075968310759Humanname
598260226CV3922043single nucleotide variantNM_032178.3(SLC7A6OS):c.16A>G (p.Thr6Ala)not specified [RCV005279742]uncertain significance166831091168310911Humanname
156057048CV2326712single nucleotide variantNM_032178.3(SLC7A6OS):c.46A>G (p.Ser16Gly)not specified [RCV004185286]uncertain significance166831088168310881Humanname
156164391CV2389689single nucleotide variantNM_032178.3(SLC7A6OS):c.65C>T (p.Ala22Val)not specified [RCV004243740]uncertain significance166831086268310862Humanname
329352293CV2476646single nucleotide variantNM_032178.3(SLC7A6OS):c.669A>G (p.Glu223=)not provided [RCV003222878]likely benign166830403568304035Humanname
401721025CV2673573single nucleotide variantNM_032178.3(SLC7A6OS):c.59C>T (p.Ala20Val)not specified [RCV004288535]uncertain significance166831086868310868Humanname
401903358CV2817593single nucleotide variantNM_032178.3(SLC7A6OS):c.648C>T (p.Ser216=)not provided [RCV003419381]likely benign166830405668304056Humanname
408379816CV3500992single nucleotide variantNM_032178.3(SLC7A6OS):c.390C>G (p.Ala130=)not provided [RCV004722642]likely benign166831041668310416Humanname
597776740CV3606768single nucleotide variantNM_032178.3(SLC7A6OS):c.42G>C (p.Lys14Asn)not specified [RCV004872873]uncertain significance166831088568310885Humanname
597758668CV3715608single nucleotide variantNM_032178.3(SLC7A6OS):c.41A>T (p.Lys14Met)Epilepsy, progressive myoclonic, 12 [RCV005017738]uncertain significance166831088668310886Human1name
598237634CV3922041single nucleotide variantNM_032178.3(SLC7A6OS):c.53A>G (p.Glu18Gly)not specified [RCV005275693]uncertain significance166831087468310874Humanname
15175274CV715026single nucleotide variantNM_032178.3(SLC7A6OS):c.70G>A (p.Val24Met)not provided [RCV000972905]benign166831085768310857Humanname
401780560CV2674080single nucleotide variantNM_032178.3(SLC7A6OS):c.143G>A (p.Arg48Lys)not specified [RCV004295486]uncertain significance166831078468310784Humanname
401718136CV2700182single nucleotide variantNM_032178.3(SLC7A6OS):c.211C>G (p.Leu71Val)not specified [RCV004309046]uncertain significance166831059568310595Humanname
405770729CV3322301single nucleotide variantNM_032178.3(SLC7A6OS):c.208C>T (p.Pro70Ser)not specified [RCV004456932]uncertain significance166831059868310598Humanname
407452046CV3481123single nucleotide variantNM_032178.3(SLC7A6OS):c.207G>T (p.Gln69His)not specified [RCV004683869]uncertain significance166831059968310599Humanname
597776731CV3606766single nucleotide variantNM_032178.3(SLC7A6OS):c.272G>T (p.Arg91Leu)not specified [RCV004872871]uncertain significance166831053468310534Humanname
598260221CV3922042single nucleotide variantNM_032178.3(SLC7A6OS):c.112G>A (p.Ala38Thr)not specified [RCV005279741]uncertain significance166831081568310815Humanname
38465168CV961746single nucleotide variantNM_032178.3(SLC7A6OS):c.191A>G (p.Gln64Arg)Epilepsy, progressive myoclonic, 12 [RCV001293363]|Generalized myoclonic seizure [RCV001250043]|not provided [RCV002253788]|not specified [RCV004671301]pathogenic|likely pathogenic|uncertain significance166831073668310736Human3name
150520244CV1289378single nucleotide variantNM_032178.3(SLC7A6OS):c.709T>C (p.Tyr237His)Epilepsy, progressive myoclonic, 12 [RCV001728129]uncertain significance166830247168302471Human1name
156181384CV2226072single nucleotide variantNM_032178.3(SLC7A6OS):c.352G>T (p.Gly118Cys)not specified [RCV004105220]uncertain significance166831045468310454Humanname
156207033CV2250002single nucleotide variantNM_032178.3(SLC7A6OS):c.418G>C (p.Asp140His)not specified [RCV004122966]uncertain significance166831038868310388Humanname
156098685CV2306484single nucleotide variantNM_032178.3(SLC7A6OS):c.407T>A (p.Phe136Tyr)not specified [RCV004157103]uncertain significance166831039968310399Humanname
155988018CV2363917single nucleotide variantNM_032178.3(SLC7A6OS):c.590T>C (p.Val197Ala)not specified [RCV004218888]uncertain significance166830411468304114Humanname
156019885CV2367024single nucleotide variantNM_032178.3(SLC7A6OS):c.614C>T (p.Thr205Met)not specified [RCV004215475]likely benign166830409068304090Humanname
401719131CV2704968single nucleotide variantNM_032178.3(SLC7A6OS):c.670T>C (p.Trp224Arg)not specified [RCV004307534]uncertain significance166830403468304034Humanname
401721764CV2710150single nucleotide variantNM_032178.3(SLC7A6OS):c.919G>T (p.Asp307Tyr)not specified [RCV004315199]uncertain significance166830128668301286Humanname
401763879CV2725342single nucleotide variantNM_032178.3(SLC7A6OS):c.316C>T (p.Leu106Phe)not specified [RCV004319998]uncertain significance166831049068310490Humanname
401868722CV2767322single nucleotide variantNM_032178.3(SLC7A6OS):c.654G>T (p.Gln218His)not specified [RCV004349488]uncertain significance166830405068304050Humanname
401919168CV2794783single nucleotide variantNM_032178.3(SLC7A6OS):c.759C>G (p.Tyr253Ter)not specified [RCV003388458]uncertain significance166830242168302421Humanname
401911738CV2817594single nucleotide variantNM_032178.3(SLC7A6OS):c.380A>G (p.Asn127Ser)not provided [RCV003426750]likely benign166831042668310426Humanname
401903359CV2817595single nucleotide variantNM_032178.3(SLC7A6OS):c.358G>A (p.Glu120Lys)not provided [RCV003419382]uncertain significance166831044868310448Humanname
405770740CV3322303single nucleotide variantNM_032178.3(SLC7A6OS):c.467G>T (p.Cys156Phe)not specified [RCV004456934]uncertain significance166831033968310339Humanname
405770745CV3322304single nucleotide variantNM_032178.3(SLC7A6OS):c.743A>G (p.Asn248Ser)not specified [RCV004456935]uncertain significance166830243768302437Humanname
405770751CV3322305single nucleotide variantNM_032178.3(SLC7A6OS):c.775A>G (p.Ser259Gly)not specified [RCV004456936]uncertain significance166830240568302405Humanname
407452040CV3481117single nucleotide variantNM_032178.3(SLC7A6OS):c.332C>A (p.Ser111Tyr)not specified [RCV004683866]uncertain significance166831047468310474Humanname
407487415CV3481118single nucleotide variantNM_032178.3(SLC7A6OS):c.864C>G (p.Ser288Arg)not specified [RCV004675028]uncertain significance166830134168301341Humanname
407488755CV3481119single nucleotide variantNM_032178.3(SLC7A6OS):c.835A>G (p.Arg279Gly)not specified [RCV004683867]uncertain significance166830137068301370Humanname
407452042CV3481120single nucleotide variantNM_032178.3(SLC7A6OS):c.752A>G (p.Asn251Ser)not specified [RCV004683868]uncertain significance166830242868302428Humanname
407515719CV3481121single nucleotide variantNM_032178.3(SLC7A6OS):c.622C>G (p.Pro208Ala)not specified [RCV004675029]uncertain significance166830408268304082Humanname
407515723CV3481122single nucleotide variantNM_032178.3(SLC7A6OS):c.311G>A (p.Arg104Gln)not specified [RCV004675030]uncertain significance166831049568310495Humanname
597776736CV3606767single nucleotide variantNM_032178.3(SLC7A6OS):c.712G>A (p.Asp238Asn)not specified [RCV004872872]uncertain significance166830246868302468Humanname
597725136CV3606769single nucleotide variantNM_032178.3(SLC7A6OS):c.605A>G (p.Tyr202Cys)not specified [RCV004862394]uncertain significance166830409968304099Humanname
15186745CV726746single nucleotide variantNM_032178.3(SLC7A6OS):c.649G>A (p.Val217Met)not provided [RCV000887059]likely benign166830405568304055Humanname