Q8IXM3 · RM41_HUMAN

  • Protein
    Large ribosomal subunit protein mL41
  • Gene
    MRPL41
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Variants

113710203040506070809010011012013050100

Filter Consequence

Filter Provenance

GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs7642074402G>SExAC
gnomAD
rs21327094303V>AEnsembl
rs13227190654L>MTOPMed
rs7680886606A>TExAC
gnomAD
rs7565410518A>PExAC
gnomAD
rs3694398669R>CVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs21327094969R>PEnsembl
COSV5299773710C>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs183698193012V>AEnsembl
rs183698183612V>FTOPMed
rs77835609013R>LExAC
TOPMed
gnomAD
rs77835609013R>QExAC
TOPMed
gnomAD
rs75463006613R>WExAC
gnomAD
rs117308881214G>DTOPMed
gnomAD
rs125109073814G>RgnomAD
rs144461497316D>YEnsembl
COSV9948163517R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs77324340617R>LExAC
TOPMed
gnomAD
rs77324340617R>PExAC
TOPMed
gnomAD
rs74677897118M>IExAC
TOPMed
gnomAD
rs183698313919S>RTOPMed
rs144708496020K>*gnomAD
rs74864238521W>*Ensembl
rs76443834424K>NExAC
gnomAD
rs76319736424K>RExAC
TOPMed
gnomAD
rs183698382926G>VTOPMed
gnomAD
rs77452032927P>SExAC
gnomAD
rs146411757228R>GTOPMed
rs126588792328R>HTOPMed
gnomAD
rs76203082530F>CExAC
TOPMed
gnomAD
rs120026979431R>GgnomAD
rs76787852431R>SExAC
TOPMed
gnomAD
rs37351880532G>CESP
ExAC
TOPMed
gnomAD
rs141004329132G>DgnomAD
rs37351880532G>SESP
ExAC
TOPMed
gnomAD
rs76670838833R>CExAC
TOPMed
gnomAD
rs75423288833R>LExAC
TOPMed
gnomAD
rs75423288833R>PExAC
TOPMed
gnomAD
rs76670838833R>SExAC
TOPMed
gnomAD
rs1378334K>QEnsembl
rs158874325935G>VEnsembl
rs94643856436R>PTOPMed
gnomAD
rs183698571436R>WTOPMed
rs146650267537G>DVariant of uncertain significance (Ensembl)gnomAD
rs77858718737G>SExAC
TOPMed
gnomAD
rs117326687139K>TgnomAD
rs183698618440G>DTOPMed
gnomAD
rs54653870344L>F1000Genomes
ExAC
TOPMed
gnomAD
rs15024080545T>I1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs11397345645T>PExAC
TOPMed
gnomAD
rs11397345645T>SExAC
TOPMed
gnomAD
rs77652342846S>*ExAC
TOPMed
gnomAD
rs158874333646S>PEnsembl
rs13890048847G>DESP
ExAC
TOPMed
gnomAD
rs183698738948W>*gnomAD
rs131310537849R>KgnomAD
rs37299252649R>SESP
ExAC
TOPMed
gnomAD
rs183698781550F>LEnsembl
rs133297123550F>SgnomAD
rs158874336950F>VEnsembl
rs183698790051V>LEnsembl
rs37621871952Q>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs120942266052Q>RgnomAD
rs145344550353I>VgnomAD
rs76769368254K>EExAC
rs183698841956M>LgnomAD
rs183698841956M>VgnomAD
COSV99481561
rs773179110
57V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs90803686658P>LTOPMed
gnomAD
rs131218214759E>KEnsembl
rs1283460F>L1000Genomes
ExAC
gnomAD
rs56386444860F>SEnsembl
rs144270719061V>ITOPMed
rs75418174863P>AExAC
gnomAD
rs145711705963P>LgnomAD
rs75418174863P>SExAC
gnomAD
rs135503513165L>VEnsembl
rs36926166466T>IESP
ExAC
TOPMed
gnomAD
rs36926166466T>NESP
ExAC
TOPMed
gnomAD
rs37336378167G>DESP
ExAC
TOPMed
gnomAD
COSV5299406069K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs134152440070L>PTOPMed
gnomAD
rs75716607272P>HExAC
TOPMed
gnomAD
rs75716607272P>LExAC
TOPMed
gnomAD
rs75105779472P>SExAC
gnomAD
rs75105779472P>TExAC
gnomAD
rs124521416873Y>CgnomAD
rs124521416873Y>SgnomAD
rs134135869375S>TTOPMed
gnomAD
rs183699090076Y>CEnsembl
rs76977743077L>FExAC
TOPMed
gnomAD
rs77926326978A>PExAC
gnomAD
rs77926326978A>TExAC
gnomAD
rs74834365478A>VExAC
gnomAD
rs77218768279P>LExAC
gnomAD
rs183699166181S>NTOPMed
rs77329353182E>GVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs136989775582E>KgnomAD
rs213271040783E>DEnsembl
rs183699216485P>LTOPMed
rs1155567688A>VEnsembl
TCGA novel89A>missing
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs77545566789A>TVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs116455076289A>VTOPMed
COSV9948124492F>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs131459268792F>LgnomAD
rs158874368593S>REnsembl
rs99598483195A>VTOPMed
gnomAD
rs75301263496V>LExAC
TOPMed
gnomAD
rs75301263496V>MExAC
TOPMed
gnomAD
rs76262213197A>PExAC
TOPMed
gnomAD
rs148207186097A>VTOPMed
rs76367188798P>AExAC
TOPMed
gnomAD
rs76367188798P>SExAC
TOPMed
gnomAD
rs75105510699A>TExAC
gnomAD
COSV99480320
rs1230117097
99A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
COSV52997515
rs1258627546
100I>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
dbSNP
gnomAD
rs1201407015100I>VTOPMed
gnomAD
rs756755698101E>GExAC
gnomAD
rs1177571686102K>RgnomAD
rs1588743762103D>GEnsembl
rs750442327105K>EExAC
TOPMed
gnomAD
rs1301636454105K>RgnomAD
rs1211951645107G>CgnomAD
rs1377055497107G>DgnomAD
rs1466433829108T>AgnomAD
rs11555677108T>IEnsembl
rs1394014572109F>CgnomAD
rs1309090126110D>ETOPMed
gnomAD
rs1444867787111P>LTOPMed
gnomAD
rs137860981111P>SESP
ExAC
TOPMed
gnomAD
rs1836996285113N>STOPMed
rs142341993114L>VESP
ExAC
TOPMed
gnomAD
rs1836996468115E>GTOPMed
rs148438754116K>E1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1206679465116K>NTOPMed
gnomAD
rs148438754116K>Q1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1389510118116K>TTOPMed
gnomAD
rs370912260117Y>*ESP
ExAC
gnomAD
COSV99480603118G>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1234562243118G>DTOPMed
gnomAD
rs2132710794119F>LEnsembl
COSV99480855
rs935435495
120E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
rs1258160936121P>ATOPMed
gnomAD
rs199842194121P>LVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
COSV52997269121P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs34976548122T>AVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs1021573438123Q>RTOPMed
gnomAD
rs1248389890124E>DTOPMed
rs1452228171125G>RTOPMed
gnomAD
rs145954367127L>VVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs1836998781129Q>*gnomAD
rs1836998974129Q>HTOPMed
rs761392887129Q>RExAC
gnomAD
rs1836999057130L>VTOPMed
gnomAD
rs1001177799131Y>*TOPMed
gnomAD
rs1178081102131Y>HgnomAD
rs1464969969132P>RgnomAD
rs1401321543133R>SgnomAD
rs1826790246134N>ITOPMed
rs1826790246134N>TTOPMed
rs1331563697137R>CTOPMed
rs771467686137R>HTOPMed
gnomAD
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