Q8IXM3 · RM41_HUMAN
- ProteinLarge ribosomal subunit protein mL41
- GeneMRPL41
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids137 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Filter Consequence
Filter Provenance
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | |
---|---|---|---|---|---|---|
rs764207440 | 2 | G>S | ExAC gnomAD | |||
rs2132709430 | 3 | V>A | Ensembl | |||
rs1322719065 | 4 | L>M | TOPMed | |||
rs768088660 | 6 | A>T | ExAC gnomAD | |||
rs756541051 | 8 | A>P | ExAC gnomAD | |||
rs369439866 | 9 | R>C | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | ||
rs2132709496 | 9 | R>P | Ensembl | |||
COSV52997737 | 10 | C>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | ||
rs1836981930 | 12 | V>A | Ensembl | |||
rs1836981836 | 12 | V>F | TOPMed | |||
rs778356090 | 13 | R>L | ExAC TOPMed gnomAD | |||
rs778356090 | 13 | R>Q | ExAC TOPMed gnomAD | |||
rs754630066 | 13 | R>W | ExAC gnomAD | |||
rs1173088812 | 14 | G>D | TOPMed gnomAD | |||
rs1251090738 | 14 | G>R | gnomAD | |||
rs1444614973 | 16 | D>Y | Ensembl | |||
COSV99481635 | 17 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | ||
rs773243406 | 17 | R>L | ExAC TOPMed gnomAD | |||
rs773243406 | 17 | R>P | ExAC TOPMed gnomAD | |||
rs746778971 | 18 | M>I | ExAC TOPMed gnomAD | |||
rs1836983139 | 19 | S>R | TOPMed | |||
rs1447084960 | 20 | K>* | gnomAD | |||
rs748642385 | 21 | W>* | Ensembl | |||
rs764438344 | 24 | K>N | ExAC gnomAD | |||
rs763197364 | 24 | K>R | ExAC TOPMed gnomAD | |||
rs1836983829 | 26 | G>V | TOPMed gnomAD | |||
rs774520329 | 27 | P>S | ExAC gnomAD | |||
rs1464117572 | 28 | R>G | TOPMed | |||
rs1265887923 | 28 | R>H | TOPMed gnomAD | |||
rs762030825 | 30 | F>C | ExAC TOPMed gnomAD | |||
rs1200269794 | 31 | R>G | gnomAD | |||
rs767878524 | 31 | R>S | ExAC TOPMed gnomAD | |||
rs373518805 | 32 | G>C | ESP ExAC TOPMed gnomAD | |||
rs1410043291 | 32 | G>D | gnomAD | |||
rs373518805 | 32 | G>S | ESP ExAC TOPMed gnomAD | |||
rs766708388 | 33 | R>C | ExAC TOPMed gnomAD | |||
rs754232888 | 33 | R>L | ExAC TOPMed gnomAD | |||
rs754232888 | 33 | R>P | ExAC TOPMed gnomAD | |||
rs766708388 | 33 | R>S | ExAC TOPMed gnomAD | |||
rs13783 | 34 | K>Q | Ensembl | |||
rs1588743259 | 35 | G>V | Ensembl | |||
rs946438564 | 36 | R>P | TOPMed gnomAD | |||
rs1836985714 | 36 | R>W | TOPMed | |||
rs1466502675 | 37 | G>D | Variant of uncertain significance (Ensembl) | gnomAD | ||
rs778587187 | 37 | G>S | ExAC TOPMed gnomAD | |||
rs1173266871 | 39 | K>T | gnomAD | |||
rs1836986184 | 40 | G>D | TOPMed gnomAD | |||
rs546538703 | 44 | L>F | 1000Genomes ExAC TOPMed gnomAD | |||
rs150240805 | 45 | T>I | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs113973456 | 45 | T>P | ExAC TOPMed gnomAD | |||
rs113973456 | 45 | T>S | ExAC TOPMed gnomAD | |||
rs776523428 | 46 | S>* | ExAC TOPMed gnomAD | |||
rs1588743336 | 46 | S>P | Ensembl | |||
rs138900488 | 47 | G>D | ESP ExAC TOPMed gnomAD | |||
rs1836987389 | 48 | W>* | gnomAD | |||
rs1313105378 | 49 | R>K | gnomAD | |||
rs372992526 | 49 | R>S | ESP ExAC TOPMed gnomAD | |||
rs1836987815 | 50 | F>L | Ensembl | |||
rs1332971235 | 50 | F>S | gnomAD | |||
rs1588743369 | 50 | F>V | Ensembl | |||
rs1836987900 | 51 | V>L | Ensembl | |||
rs376218719 | 52 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | ||
rs1209422660 | 52 | Q>R | gnomAD | |||
rs1453445503 | 53 | I>V | gnomAD | |||
rs767693682 | 54 | K>E | ExAC | |||
rs1836988419 | 56 | M>L | gnomAD | |||
rs1836988419 | 56 | M>V | gnomAD | |||
COSV99481561 rs773179110 | 57 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |
rs908036866 | 58 | P>L | TOPMed gnomAD | |||
rs1312182147 | 59 | E>K | Ensembl | |||
rs12834 | 60 | F>L | 1000Genomes ExAC gnomAD | |||
rs563864448 | 60 | F>S | Ensembl | |||
rs1442707190 | 61 | V>I | TOPMed | |||
rs754181748 | 63 | P>A | ExAC gnomAD | |||
rs1457117059 | 63 | P>L | gnomAD | |||
rs754181748 | 63 | P>S | ExAC gnomAD | |||
rs1355035131 | 65 | L>V | Ensembl | |||
rs369261664 | 66 | T>I | ESP ExAC TOPMed gnomAD | |||
rs369261664 | 66 | T>N | ESP ExAC TOPMed gnomAD | |||
rs373363781 | 67 | G>D | ESP ExAC TOPMed gnomAD | |||
COSV52994060 | 69 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | ||
rs1341524400 | 70 | L>P | TOPMed gnomAD | |||
rs757166072 | 72 | P>H | ExAC TOPMed gnomAD | |||
rs757166072 | 72 | P>L | ExAC TOPMed gnomAD | |||
rs751057794 | 72 | P>S | ExAC gnomAD | |||
rs751057794 | 72 | P>T | ExAC gnomAD | |||
rs1245214168 | 73 | Y>C | gnomAD | |||
rs1245214168 | 73 | Y>S | gnomAD | |||
rs1341358693 | 75 | S>T | TOPMed gnomAD | |||
rs1836990900 | 76 | Y>C | Ensembl | |||
rs769777430 | 77 | L>F | ExAC TOPMed gnomAD | |||
rs779263269 | 78 | A>P | ExAC gnomAD | |||
rs779263269 | 78 | A>T | ExAC gnomAD | |||
rs748343654 | 78 | A>V | ExAC gnomAD | |||
rs772187682 | 79 | P>L | ExAC gnomAD | |||
rs1836991661 | 81 | S>N | TOPMed | |||
rs773293531 | 82 | E>G | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | ||
rs1369897755 | 82 | E>K | gnomAD | |||
rs2132710407 | 83 | E>D | Ensembl | |||
rs1836992164 | 85 | P>L | TOPMed | |||
rs11555676 | 88 | A>V | Ensembl | |||
TCGA novel | 89 | A>missing | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | ||
rs775455667 | 89 | A>T | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | ||
rs1164550762 | 89 | A>V | TOPMed | |||
COSV99481244 | 92 | F>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | ||
rs1314592687 | 92 | F>L | gnomAD | |||
rs1588743685 | 93 | S>R | Ensembl | |||
rs995984831 | 95 | A>V | TOPMed gnomAD | |||
rs753012634 | 96 | V>L | ExAC TOPMed gnomAD | |||
rs753012634 | 96 | V>M | ExAC TOPMed gnomAD | |||
rs762622131 | 97 | A>P | ExAC TOPMed gnomAD | |||
rs1482071860 | 97 | A>V | TOPMed | |||
rs763671887 | 98 | P>A | ExAC TOPMed gnomAD | |||
rs763671887 | 98 | P>S | ExAC TOPMed gnomAD | |||
rs751055106 | 99 | A>T | ExAC gnomAD | |||
COSV99480320 rs1230117097 | 99 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP | ||
COSV52997515 rs1258627546 | 100 | I>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP gnomAD | ||
rs1201407015 | 100 | I>V | TOPMed gnomAD | |||
rs756755698 | 101 | E>G | ExAC gnomAD | |||
rs1177571686 | 102 | K>R | gnomAD | |||
rs1588743762 | 103 | D>G | Ensembl | |||
rs750442327 | 105 | K>E | ExAC TOPMed gnomAD | |||
rs1301636454 | 105 | K>R | gnomAD | |||
rs1211951645 | 107 | G>C | gnomAD | |||
rs1377055497 | 107 | G>D | gnomAD | |||
rs1466433829 | 108 | T>A | gnomAD | |||
rs11555677 | 108 | T>I | Ensembl | |||
rs1394014572 | 109 | F>C | gnomAD | |||
rs1309090126 | 110 | D>E | TOPMed gnomAD | |||
rs1444867787 | 111 | P>L | TOPMed gnomAD | |||
rs137860981 | 111 | P>S | ESP ExAC TOPMed gnomAD | |||
rs1836996285 | 113 | N>S | TOPMed | |||
rs142341993 | 114 | L>V | ESP ExAC TOPMed gnomAD | |||
rs1836996468 | 115 | E>G | TOPMed | |||
rs148438754 | 116 | K>E | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs1206679465 | 116 | K>N | TOPMed gnomAD | |||
rs148438754 | 116 | K>Q | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs1389510118 | 116 | K>T | TOPMed gnomAD | |||
rs370912260 | 117 | Y>* | ESP ExAC gnomAD | |||
COSV99480603 | 118 | G>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | ||
rs1234562243 | 118 | G>D | TOPMed gnomAD | |||
rs2132710794 | 119 | F>L | Ensembl | |||
COSV99480855 rs935435495 | 120 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |
rs1258160936 | 121 | P>A | TOPMed gnomAD | |||
rs199842194 | 121 | P>L | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | ||
COSV52997269 | 121 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | ||
rs34976548 | 122 | T>A | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | ||
rs1021573438 | 123 | Q>R | TOPMed gnomAD | |||
rs1248389890 | 124 | E>D | TOPMed | |||
rs1452228171 | 125 | G>R | TOPMed gnomAD | |||
rs145954367 | 127 | L>V | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | ||
rs1836998781 | 129 | Q>* | gnomAD | |||
rs1836998974 | 129 | Q>H | TOPMed | |||
rs761392887 | 129 | Q>R | ExAC gnomAD | |||
rs1836999057 | 130 | L>V | TOPMed gnomAD | |||
rs1001177799 | 131 | Y>* | TOPMed gnomAD | |||
rs1178081102 | 131 | Y>H | gnomAD | |||
rs1464969969 | 132 | P>R | gnomAD | |||
rs1401321543 | 133 | R>S | gnomAD | |||
rs1826790246 | 134 | N>I | TOPMed | |||
rs1826790246 | 134 | N>T | TOPMed | |||
rs1331563697 | 137 | R>C | TOPMed | |||
rs771467686 | 137 | R>H | TOPMed gnomAD | |||