All variants in the MTRR gene

Information The variants shown are described using the NM_002454.2 transcript reference sequence.

161 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Type     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Variant remarks     

ClassClinical     

Owner     
./. 00 c.-119T>C - - unknown - GenBank MTRR_00025 0.278 Substitution - Qi Ming
./. 01 c.-26+128delC - - unknown - GenBank MTRR_00026 0.500 Deletion - Qi Ming
./. 01 c.-26+129delC - - unknown - GenBank MTRR_00027 N.D. Deletion - Qi Ming
./. 00 c.-10C>A - - unknown - GenBank MTRR_00028 0.500 Substitution - Qi Ming
./. 07 c.904-20_904-19insC, c.904-20_904-19insT - - unknown - GenBank MTRR_00055 0.625 Insertion - Qi Ming
./. 02 c.G>A - p.Ala19Thr unknown - GenBank MTRR_00111 N.D. Substitution - Qi Ming
./. 02 c.7A>T - P.Arg3Trp unknown - GenBank MTRR_00001 - Substitution - Qi Ming
./. 02 c.21A>G - p.Leu7Leu unknown - GenBank MTRR_00109 N.D. Substitution - Qi Ming
./. 02 c.27T>C - p.Ala9Ala unknown - GenBank MTRR_00110 N.D. Substitution - Qi Ming
./. 02 c.54C>T - p.Ile18Ile unknown - GenBank MTRR_00030 0.010 Substitution - Qi Ming
./. 02 c.66A>G - p.Ile22Met unknown - GenBank MTRR_00008 - Substitution - Qi Ming
./. 02 c.66A>G - p.Ile22Met unknown - GenBank MTRR_00011 - Substitution - Qi Ming
./. 02 c.66A>G - p.Ile22Met unknown - GenBank MTRR_00011 - Substitution - Qi Ming
./. 02 c.66A>G - P.Ile22Met unknown - GenBank MTRR_00008 - Substitution - Qi Ming
./. 02 c.66A>G - p.Ile22Met unknown - GenBank MTRR_00008 - Substitution - Qi Ming
./. 02 c.66A>G - p.Ile22Met unknown - GenBank MTRR_00008 - Substitution - Qi Ming
./. 02 c.66A>G - p.Ile22Met unknown - GenBank MTRR_00008 - Substitution - Qi Ming
./. 02 c.66A>G - p.Ile22Met unknown - GenBank MTRR_00008 - Substitution - Qi Ming
./. 02 c.66A>G - p.Ile22Met unknown - GenBank MTRR_00008 - Substitution - Qi Ming
./. 02 c.66A>G - p.Ile22Met unknown - GenBank MTRR_00008 - Substitution - Qi Ming
./. 02 c.66A>G - p.Ile22Met unknown - GenBank MTRR_00008 - Substitution - Qi Ming
./. 02 c.66A>G - p.Ile22Met unknown - GenBank MTRR_00008 - Substitution - Qi Ming
./. 02 c.66A>G - p.Ile22Met unknown - GenBank MTRR_00008 - Substitution - Qi Ming
./. 02 c.66A>G - p.Ile22Met unknown - GenBank MTRR_00008 - Substitution - Qi Ming
./. 02 c.66A>G - p.Ile22Met unknown - GenBank MTRR_00008 - Substitution - Qi Ming
./. 02 c.66A>G - p.Ile22Met unknown - GenBank MTRR_00008 - Substitution - Qi Ming
./. 02 c.66A>G - p.Ile22Met unknown - GenBank MTRR_00008 - Substitution - Qi Ming
./. 02 c.66A>G - p.Ile22Met unknown - GenBank MTRR_00008 - Substitution - Qi Ming
./. 02 c.66A>G - p.Ile22Met unknown - GenBank MTRR_00008 - Substitution - Qi Ming
./. 02 c.66A>G - p.Ile22Met unknown - GenBank MTRR_00008 - Substitution - Qi Ming
./. 02 c.66A>G - p.Ile22Met unknown - GenBank MTRR_00008 - Substitution - Qi Ming
./. 02 c.66A>G - p.Ile22Met unknown - GenBank MTRR_00008 - Substitution - Qi Ming
./. 02 c.66A>G - p.Ile22Met unknown - GenBank MTRR_00008 - Substitution - Qi Ming
./. 02 c.66A>G - p.Ile22Met unknown - GenBank MTRR_00008 - Substitution - Qi Ming
./. 02 c.66A>G - p.Ile22Met unknown - GenBank MTRR_00008 - Substitution - Qi Ming
./. 02 c.66A>G - p.Ile22Met unknown - GenBank MTRR_00024 - Substitution - Qi Ming
./. 02 c.66A>G - p.Ile22Met unknown - GenBank MTRR_00008 - Substitution - Qi Ming
./. 02 c.66A>G - p.Ile22Met unknown - GenBank MTRR_00008 0.469 Substitution - Qi Ming
./. 02 c.129+10G>A - - unknown - GenBank MTRR_00031 0.010 Substitution - Qi Ming
./. 02 c.129+152C>G - - unknown - GenBank MTRR_00032 N.D. Substitution - Qi Ming
./. 02 c.129+754A>C - - unknown - GenBank MTRR_00107 - Substitution - Qi Ming
./. 02 c.129+766G>A - - unknown - GenBank MTRR_00009 - Substitution - Qi Ming
./. 03 c.130-22A>T - - unknown - GenBank MTRR_00033 N.D. Substitution - Qi Ming
./. 03 c.178A>G - p.Thr60Ala unknown - GenBank MTRR_00112 N.D. Substitution - Qi Ming
./. 03 c.210C>G - p.Arg70Arg unknown - GenBank MTRR_00034 N.D. Substitution - Qi Ming
./. 03 c.283+110T>C - - unknown - GenBank MTRR_00035 0.044 Substitution - Qi Ming
./. 03 c.283+126_283+143del18 - - unknown - GenBank MTRR_00036 N.D. Deletion - Qi Ming
./. 03 c.283+200G>A - - unknown - GenBank MTRR_00037 N.D. Substitution - Qi Ming
./. 04 c.284-120_284-119insA - - unknown - GenBank MTRR_00038 N.D. Insertion - Qi Ming
./. 04 c.284-64C>G - - unknown - GenBank MTRR_00039 0.373 Substitution - Qi Ming
./. 04 c.288C>T - p.Leu96Leu unknown - GenBank MTRR_00040 0.025 Substitution - Qi Ming
./. 04 c.401+210G>A - - unknown - GenBank MTRR_00041 0.147 Substitution - Qi Ming
./. 05 c.432T>G - p.Ala144Ala unknown - GenBank MTRR_00118 N.D. Substitution - Qi Ming
./. 05 c.447C>T - p.Ala149Ala unknown - GenBank MTRR_00115 N.D. Substitution - Qi Ming
./. 05 c.496G>A - p.Ala166Thr unknown - GenBank MTRR_00120 N.D. Substitution - Qi Ming
./. 05 c.524C>T - p.Ser175Leu unknown - GenBank MTRR_00014 - Substitution - Qi Ming
./. 05 c.524C>T - p.Ser175Leu unknown - GenBank MTRR_00014 - Substitution - Qi Ming
./. 05 c.524C>T - p.Ser175Leu unknown - GenBank MTRR_00014 - Substitution - Qi Ming
./. 05 c.524C>T - p.Ser175Leu unknown - GenBank MTRR_00014 - Substitution - Qi Ming
./. 05 c.524C>T - p.Ser175Leu unknown - GenBank MTRR_00014 0.341 Substitution - Qi Ming
./. 05 c.537T>C - p.Leu179Leu unknown - GenBank MTRR_00017 - Substitution - Qi Ming
./. 05 c.537T>C - p.Leu179Leu unknown - GenBank MTRR_00017 0.350 Substitution - Qi Ming
./. 05 c.649T>C - p.Ser217Pro unknown - GenBank MTRR_00121 N.D. Substitution - Qi Ming
./. 05 c.739C>T - p.Pro247Ser unknown - GenBank MTRR_00119 N.D. Substitution - Qi Ming
./. 05 c.769T>A - p.Ser257Thr unknown - GenBank MTRR_00042 0.080 Substitution - Qi Ming
./. 05 c.780+168G>A - - unknown - GenBank MTRR_00043 0.368 Substitution - Qi Ming
./. 06 c.781-80G>A - - unknown - GenBank MTRR_00044 0.368 Substitution - Qi Ming
./. 06 c.828G>A - p.Val276Val unknown - GenBank MTRR_00116 N.D. Substitution - Qi Ming
./. 06 c.857C>T - p.Thr286Met unknown - GenBank MTRR_00045 N.D. Substitution - Qi Ming
./. 06 c.878C>T - p.Thr293Ile unknown - GenBank MTRR_00117 N.D. Substitution - Qi Ming
./. 06 c.903_904ins140 - - unknown - GenBank MTRR_00108 - Insertion - Qi Ming
./. 06 c.903+66_903+94del29 - - unknown - GenBank MTRR_00046 N.D. Deletion - Qi Ming
./. 06 c.903+137G>A - - unknown - GenBank MTRR_00047 N.D. Substitution - Qi Ming
./. 06 c.903+152G>C - - unknown - GenBank MTRR_00048 N.D. Substitution - Qi Ming
./. 06 c.903+153T>G - - unknown - GenBank MTRR_00049 N.D. Substitution - Qi Ming
./. 06 c.903+166A>G - - unknown - GenBank MTRR_00050 0.500 Substitution - Qi Ming
./. 06 c.903+469T>C - - unknown - GenBank MTRR_00007 - Substitution - Qi Ming
./. 07 c.904-127G>T - - unknown - GenBank MTRR_00051 0.129 Substitution - Qi Ming
./. 07 c.904-32_904-31insT - - unknown - GenBank MTRR_00052 N.D. Insertion - Qi Ming
./. 07 c.904-31_904-30insT - - unknown - GenBank MTRR_00053 N.D. Insertion - Qi Ming
./. 07 c.904-21_904-20ins2 - - unknown - GenBank MTRR_00054 N.D. Insertion - Qi Ming
./. 07 c.904-19C>T - - unknown - GenBank MTRR_00057 0.066 Substitution - Qi Ming
./. 07 c.904-19_904-18ins2 - - unknown - GenBank MTRR_00056 N.D. Insertion - Qi Ming
./. 07 c.920A>G - p.Tyr307Cys unknown - GenBank MTRR_00114 N.D. Substitution - Qi Ming
./. 07 c.997C>G - p.Leu333Val unknown - GenBank MTRR_00058 0.132 Substitution - Qi Ming
./. 07 c.1021G>A - p.Val341Ile unknown - GenBank MTRR_00059 N.D. Substitution - Qi Ming
./. 07 c.1049A>G - p.Lys350Arg unknown - GenBank MTRR_00003 - Substitution - Qi Ming
./. 07 c.1049A>G - p.Lys350Arg unknown - GenBank MTRR_00003 - Substitution - Qi Ming
./. 07 c.1049A>G - p.Lys350Arg unknown - GenBank MTRR_00003 0.383 Substitution - Qi Ming
./. 07 c.1051+131A>G - - unknown - GenBank MTRR_00060 0.077 Substitution - Qi Ming
./. 07 c.1051+137T>C - - unknown - GenBank MTRR_00061 0.326 Substitution - Qi Ming
./. 07 c.1051+164G>C - - unknown - GenBank MTRR_00062 0.323 Substitution - Qi Ming
./. 08 c.1058-142delG - - unknown - GenBank MTRR_00063 0.500 Deletion - Qi Ming
./. 08 c.1058-142G>T - - unknown - GenBank MTRR_00064 75218507 Substitution - Qi Ming
./. 08 c.1058-141delG - - unknown - GenBank MTRR_00065 N.D. Deletion - Qi Ming
./. 08 c.1058-86C>A - - unknown - GenBank MTRR_00066 0.027 Substitution - Qi Ming
./. 08 c.1100A>G - p.Gln367Arg unknown - GenBank MTRR_00113 N.D. Substitution - Qi Ming
./. 08 c.1146+146G>A - - unknown - GenBank MTRR_00067 0.055 Substitution - Qi Ming
./. 08 c.1146+153A>C - - unknown - GenBank MTRR_00068 0.022 Substitution - Qi Ming
./. 08 c.1146+199T>G - - unknown - GenBank MTRR_00069 0.077 Substitution - Qi Ming
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