MITOMAP: Unpublished mtDNA Variants

Also see the submission index. To submit new unpublished variants, please log-in and use the new submittal form. If you would like to submit published data and articles to be included in mitomap, please send the citation & a pdf file to mitomap@email.chop.edu.


* [[MITOMAP/Submissions.19990218005][]] * [[MITOMAP/Submissions.19990218006][]] * [[MITOMAP/Submissions.19990218007][]] * [[MITOMAP/Submissions.19990218008][]] * [[MITOMAP/Submissions.19990303003][]] * [[MITOMAP/Submissions.19990308001][]] * [[MITOMAP/Submissions.19990308002][]] * [[MITOMAP/Submissions.19990308003][]] * [[MITOMAP/Submissions.19990308004][]] * [[MITOMAP/Submissions.19990316006][]] * [[MITOMAP/Submissions.19990316007][]] * [[MITOMAP/Submissions.19990316008][]] * [[MITOMAP/Submissions.19990316009][]] * [[MITOMAP/Submissions.19990316010][]] * [[MITOMAP/Submissions.19990316011][]] * [[MITOMAP/Submissions.19990316012][]] * [[MITOMAP/Submissions.19990316013][]] * [[MITOMAP/Submissions.19990316014][]] * [[MITOMAP/Submissions.19990316015][]] * [[MITOMAP/Submissions.19990316016][]] * [[MITOMAP/Submissions.19990316017][]] * [[MITOMAP/Submissions.19990316018][]] * [[MITOMAP/Submissions.19990316019][]] * [[MITOMAP/Submissions.19990316020][]] * [[MITOMAP/Submissions.19990316021][]] * [[MITOMAP/Submissions.19990316022][]] * [[MITOMAP/Submissions.19990316023][]] * [[MITOMAP/Submissions.19990316024][]] * [[MITOMAP/Submissions.19990316025][]] * [[MITOMAP/Submissions.19990316026][]] * [[MITOMAP/Submissions.19990316027][]] * [[MITOMAP/Submissions.19990316028][]] * [[MITOMAP/Submissions.19990316029][]] * [[MITOMAP/Submissions.19990316030][]] * [[MITOMAP/Submissions.19990316031][]] * [[MITOMAP/Submissions.19990316032][]] * [[MITOMAP/Submissions.19990316033][]] * [[MITOMAP/Submissions.19990316034][]] * [[MITOMAP/Submissions.19990316035][]] * [[MITOMAP/Submissions.19990316036][]] * [[MITOMAP/Submissions.19990316037][]] * [[MITOMAP/Submissions.19990316038][]] * [[MITOMAP/Submissions.19990316039][]] * [[MITOMAP/Submissions.19990316040][]] * [[MITOMAP/Submissions.19990316041][]] * [[MITOMAP/Submissions.19990316043][]] * [[MITOMAP/Submissions.19990316044][]] * [[MITOMAP/Submissions.19990316045][]] * [[MITOMAP/Submissions.19990316046][]] * [[MITOMAP/Submissions.19990316047][]] * [[MITOMAP/Submissions.19990316048][]] * [[MITOMAP/Submissions.19990316049][]] * [[MITOMAP/Submissions.19990316050][]] * [[MITOMAP/Submissions.19990316051][]] * [[MITOMAP/Submissions.19990316052][]] * [[MITOMAP/Submissions.19990316053][]] * [[MITOMAP/Submissions.19990316054][]] * [[MITOMAP/Submissions.19990316055][]] * [[MITOMAP/Submissions.19990323001][]] * [[MITOMAP/Submissions.19990323002][]] * [[MITOMAP/Submissions.19990323003][]] * [[MITOMAP/Submissions.19990323004][]] * [[MITOMAP/Submissions.19990324001][]] * [[MITOMAP/Submissions.19990324002][]] * [[MITOMAP/Submissions.19990324003][]] * [[MITOMAP/Submissions.19990507001][]] * [[MITOMAP/Submissions.19990511001][]] * [[MITOMAP/Submissions.19990721001][]] * [[MITOMAP/Submissions.19990721002][]] * [[MITOMAP/Submissions.19990721003][]] * [[MITOMAP/Submissions.19990906001][]] * [[MITOMAP/Submissions.19991118001][]] * [[MITOMAP/Submissions.19991118002][]] * [[MITOMAP/Submissions.19991118003][]] * [[MITOMAP/Submissions.19991118004][]] * [[MITOMAP/Submissions.19991118005][]] * [[MITOMAP/Submissions.19991118006][]] * [[MITOMAP/Submissions.19991118007][]] * [[MITOMAP/Submissions.19991118008][]] * [[MITOMAP/Submissions.19991118009][]] * [[MITOMAP/Submissions.19991118010][]] * [[MITOMAP/Submissions.19991118011][]] * [[MITOMAP/Submissions.19991118012][]] * [[MITOMAP/Submissions.19991118013][]]

Point Mutations - includes benign & 'potentially pathogenic' variants

"AlleleType = 'polymorphism'"
Details and Citation Position Nucleotide Change Amino Acid Change Locus / Gene Patient Group / Phenotype Ethnographic Info
20100822001 73 A-G non-coding Control Region Oral Cancer Indian- Bengali
20010303003 147 C-T non-coding Control Region Breast Cancer Caucasian
20010424001 253 C-A non-coding Control Region Sporadic Parathyroid Adenoma -
20010828002 285 C-T non-coding Control Region Sporadic Parathyroid Adenoma -
20040720017 498 C-del non-coding Control Region Breast Cancer Asian
20110302001 571 C-A non-coding Control Region complex I deficiency  
20081112001 930 G-C rRNA MT-RNR1 Normal Yakut
20010828003 1007 G-A rRNA MT-RNR1 Sporadic Parathyroid Adenoma -
20010828004 1700 T-C rRNA MT-RNR2 Sporadic Parathyroid Adenoma -
20041220011 1700 T-C rRNA MT-RNR2 Oral Cancer Asian Indian
20010301006 1703 C-T rRNA MT-RNR2 Breast Cancer Caucasian
20041220013 1811 A-G rRNA MT-RNR2 Oral Cancer Asian Indian-Gujarati
20010828005 2218 C-T rRNA MT-RNR2 Sporadic Parathyroid Adenoma -
20041220010 2232 A-AAA rRNA MT-RNR2 Oral Cancer Asian Indian-Marathi
20041220014 2361 G-A rRNA MT-RNR2 Oral Cancer Asian Indian-Marathi
20041220016 2396 C-T rRNA MT-RNR2 Oral Cancer Asian Indian
20041220015 3116 C-T rRNA MT-RNR2 Oral Cancer Asian Indian-Marathi
20010828006 3160 A-T rRNA MT-RNR2 Sporadic Parathyroid Adenoma -
20041220012 3197 T-C rRNA MT-RNR2 Oral Cancer Asian Indian
20041220017 3220 A-G rRNA MT-RNR2 Oral Cancer Asian Indian
20030912001 3242 G-A tRNA MT-TL1 Myelodysplastic Syndrome (MDS) Caucasian
20011206001 3351 C-T syn MT-ND1 Unknown cardio-facio-cutaneous syndrome Caucasian
20010828007 3397 A-G M-V MT-ND1 Sporadic Parathyroid Adenoma -
20010828001 3571 C-CC Frameshift MT-ND1 Sporadic Parathyroid Adenoma -
20010828008 3591 G-A P-L MT-ND1 Sporadic Parathyroid Adenoma -
20010301007 3921 C-A syn MT-ND1 Breast Cancer Caucasian
20040912001 3993 A-G syn MT-ND1 Normal Arabs
20010303006 4021 A-G T-A MT-ND1 Breast Cancer Caucasian
20010424002 4172 T-C L-P MT-ND1 Sporadic Parathyroid Adenoma -
20010828009 4188 A-G syn MT-ND1 Sporadic Parathyroid Adenoma -
20010828010 4216 T-C Y-H MT-ND1 Sporadic Parathyroid Adenoma -
20070612001 4363 T-C tRNA MT-TQ Normal Saudi Arabs
20081202001 4395 A-G tRNA MT-TQ cardiomyopathy Afrique
20010828011 4418 T-C tRNA MT-TM Sporadic Parathyroid Adenoma -
20040720010 4562 A-G syn MT-ND2 Breast Cancer Asian
20010828012 4640 C-A I-M MT-ND2 Sporadic Parathyroid Adenoma -
20010301003 4917 A-G N-D MT-ND2 - Caucasian
20040720014 4973 T-C syn MT-ND2 Breast Cancer Caucasian
20010424003 5026 A-G H-R MT-ND2 Sporadic Parathyroid Adenoma -
20010301002 5198 A-G syn MT-ND2 - Caucasian
20040720015 5285 A-G syn MT-ND2 Breast Cancer Caucasian
20010301004 5471 G-A syn MT-ND2 - Caucasian
20010828013 6026 G-A syn MT-CO1 Sporadic Parathyroid Adenoma -
20120312001 6498 C-T L-F MT-CO1 Hearing loss and optic atrophy Caucasian/Africain
20010828014 6570 G-T A-S MT-CO1 Sporadic Parathyroid Adenoma -
20010828015 6656 C-T syn MT-CO1 Sporadic Parathyroid Adenoma -
20121022001 6996 A-C I-L MT-CO1 control/normal/healthy Caucasian/Middle European
20000402001 7058 T-C syn MT-CO1 Leigh Syndrome Caucasian
20010828016 7220 T-C syn MT-CO1 Sporadic Parathyroid Adenoma -
20110722001 7455 A-G tRNA MT-TS1 HEARING IMPAIRED ASIAN
20010828017 7963 A-G syn MT-CO2 Sporadic Parathyroid Adenoma -
20010828018 8602 T-C F-L MT-ATP6 Sporadic Parathyroid Adenoma -
20010828019 8812 A-G T-A MT-ATP6 Sporadic Parathyroid Adenoma -
20010828020 8953 A-G I-V MT-ATP6 Sporadic Parathyroid Adenoma -
20010828021 8987 A-G M-V MT-ATP6 Sporadic Parathyroid Adenoma -
20010828022 9426 C-T P-S MT-CO3 Sporadic Parathyroid Adenoma -
20010828024 9426 C-T P-S MT-CO3 Sporadic Parathyroid Adenoma -
20010828025 9656 T-C syn MT-CO3 Sporadic Parathyroid Adenoma -
20010828026 10325 G-A syn MT-ND3 Sporadic Parathyroid Adenoma -
20010424004 10522 G-A G-E MT-ND4L Sporadic Parathyroid Adenoma -
20081022001 10680 G-A A-T MT-ND4L LHON Han Chinese
20010303007 10707 T-G S-A MT-ND4L Breast Cancer Caucasian
20010828027 10754 A-C syn MT-ND4L Sporadic Parathyroid Adenoma -
20010828028 10775 A-G V-I MT-ND4 Sporadic Parathyroid Adenoma -
20010424006 11038 A-del Frameshift MT-ND4 Sporadic Parathyroid Adenoma -
20010301001 11087 T-C F-L MT-ND4 - Caucasian
20060122001 11260 T-A syn MT-ND4 Mitochondrial Myopathy Caucasian
20010828029 11617 T-C syn MT-ND4 Sporadic Parathyroid Adenoma -
20010303008 11696 G-A V-I MT-ND4 Breast Cancer Caucasian
20010303004 11723 A-G T-A MT-ND4 Breast Cancer Caucasian
20010303001 11734 A-G syn MT-ND4 Breast Cancer Caucasian
20040720011 11878 T-C syn MT-ND4 Breast Cancer Asian
20010301008 12237 C-T tRNA MT-TS2 Breast Cancer Caucasian
20010303002 12251 A-G tRNA MT-TS2 Breast Cancer Caucasian
20010424005 12372 G-A syn MT-ND5 Sporadic Parathyroid Adenoma -
20040720012 12438 T-C syn MT-ND5 Breast Cancer Asian
20100212001 12588 C-T syn MT-ND5 sensorineural hearing loss Caucasian
20040720013 12630 G-A syn MT-ND5 Breast Cancer Asian
20010822001 12813 C-T syn MT-ND5 Myopathy, Tremor Caucasian
20010828030 12879 T-C syn MT-ND5 Sporadic Parathyroid Adenoma -
20010828031 12954 T-C syn MT-ND5 Sporadic Parathyroid Adenoma -
20010927001 13239 C-T syn MT-ND5 Mental Retardation Italian
20010828032 13392 T-C syn MT-ND5 Sporadic Parathyroid Adenoma -
20010828033 13392 T-C syn MT-ND5 Sporadic Parathyroid Adenoma -
20010828034 13422 A-G syn MT-ND5 Sporadic Parathyroid Adenoma -
20041212001 13539 A-G syn MT-ND5 LHON Arabs
20010424007 13577 T-C I-T MT-ND5 Sporadic Parathyroid Adenoma -
20010828035 13708 G-A A-T MT-ND5 Sporadic Parathyroid Adenoma -
20010828036 13743 T-C syn MT-ND5 Sporadic Parathyroid Adenoma -
20010828037 14070 A-G syn MT-ND5 Sporadic Parathyroid Adenoma -
20040720016 14207 G-A T-I MT-ND6 Breast Cancer Caucasian
20010828038 14364 G-A syn MT-ND6 Sporadic Parathyroid Adenoma -
20010424008 14386 T-C syn MT-ND6 Sporadic Parathyroid Adenoma -
20111212001 14705 G-C tRNA MT-TE Diabetes, Myopathy,Hearing impairment  
20010303005 14783 T-C L-I MT-CYB Breast Cancer Caucasian
20011206002 15016 C-T syn MT-CYB Myopathy (unknown) Caucasian
20010828039 15148 G-A syn MT-CYB Sporadic Parathyroid Adenoma -
20010301005 15257 G-A D-N MT-CYB Breast Cancer Caucasian
20140422001 15530 T-del   MT-CYB Breast cancer Senegalese
20081212001 16292 C-T non-coding Control Region normal Veddah

Insertions

Details and Citation Pre-position Insert Locus / Gene Patient Group / Phenotype Ethnographic Info
20030528021 1 G Control Region Oral Cancer Asian Indian- Marathi
20030528067 54 G Control Region Oral Cancer Asian Indian- Muslim
20120907004 56 G Control Region   European
20101209001 60 T Control Region Lung Cancer Caucasian
20030528051 71 G Control Region Oral Cancer Asian Indian- Marathi
20030528125 145 A Control Region Oral Cancer Asian Indian- Gujarati
20030528158 151 A Control Region Oral Cancer Asian Indian
20030528032 177 T Control Region Oral Cancer Asian Indian- Marathi
20030527036 179 T Control Region Oral Cancer Asian Indian- Bengali
20030527041 250 T Control Region Oral Cancer Asian Indian- Bengali
20060605006 292 AT Control Region Normal Indigenous group-Temuan
20090714001 302 C Control Region Aminoglycoside-induced hearing loss Caucasian
20101227004 311 C Control Region Oral cancer Asian-Bengali
20060605008 356 C Control Region Normal Indigenous group-Temuan
20050106006 455 T Control Region Normal Caucasian
20130520001 455 455.1T Control Region   São Paulo
20130520004 463 463.1C Control Region    
20130520006 463 463.2C Control Region    
20130520005 463 463.1C Control Region    
20091228004 513 CA Control Region NSHL Caucasian
20090714003 513 CA Control Region Aminoglycoside-induced hearing loss Caucasian
20091228002 513 CA Control Region NSHL Caucasian
20090714002 513 CACA Control Region Aminoglycoside-induced hearing loss Caucasian
20091228003 513 CA Control Region NSHL Caucasian
20050331001 514 ACA Control Region Leigh Syndrome Russian
20091031001 524 AC Control Region Normal Malay
20060831001 525 AC Control Region - -
20090714004 567 CCC Control Region Aminoglycoside-induced hearing loss Caucasian
20091031002 573 C Control Region Normal Kelantan Malays
20110421001 792 T MT-RNR1   Hispanic Father, Caucasian Mother
20110302020 1659 TT MT-TV complex I deficiency, hepatopathy, hypertrophic cardiomyopathy, gastrointestinal bleeding, muscular hypotonia  
20041220010 2232 AA MT-RNR2 Oral Cancer Asian Indian-Marathi
20140729005 2236 A MT-RNR1 CAD+T2DM Asian Indian
20140729008 3159 T MT-RNR2 CAD+T2DM Asian Indian
20010828001 3566 C MT-ND1 Sporadic Parathyroid Adenoma -
20140630011 3571 C MT-ND1 Glioma  
20040209029 10800 T MT-ND4 Oral Cancer Asian Indian
20040209019 10815 A MT-ND4 Oral Cancer MARATHI
20040209008 10816 A MT-ND4 Oral Cancer MARATHI
20040209013 10817 T MT-ND4 Oral Cancer MARATHI
20040209027 10817 AT MT-ND4 Oral Cancer SINDHI
20040209009 10824 GTA MT-ND4 Oral Cancer MARATHI
20040209020 11274 G MT-ND4 Oral Cancer MARATHI
20040209010 11711 G MT-ND4 Oral Cancer MARATHI
20040209052 11820 T MT-ND4 Normal MARATHI
20040209053 11826 G MT-ND4 Normal MARATHI
20140630012 11872 C MT-ND4 Glioma  
20040209043 11938 TC MT-ND4 Oral Cancer MARATHI
20140422007 15588 TA MT-CYB Breast cancer Senegalese
20140422029 15664 A MT-CYB Breast cancer Senegalese
20140731014 15864 A MT-CYB CAD+T2DM Asian Indian
20100908007 16190 C Control Region Oral cancer Asian-Bengali
20060605003 16192 T Control Region Normal Indigenous group-Bidayuh
20140731016 16197   Control Region CAD+T2DM Asian Indian
20130520007 16285 16285.1A Control Region    
20030528065 16496 G Control Region Oral Cancer Asian Indian- Muslim
20030528066 16564 A Control Region Oral Cancer Asian Indian- Muslim

Deletions

Details and Citation Position Length Locus / Gene Patient Group / Phenotype Ethnographic Info
20140731008     MT-ND5 CAD+T2DM Asian Indian
20030528111 25 1 Control Region Oral Cancer Asian Indian- Marathi
20030528084 36 1 Control Region Oral Cancer Asian Indian- Marathi
20140724001 56 1 Control Region CAD+T2DM Asian Indian
20030528112 60 1 Control Region Oral Cancer Asian Indian- Marathi
20140630009 71 1 Control Region Glioma  
20030528068 72 1 Control Region Oral Cancer Asian Indian- Muslim
20030528113 105 1 Control Region Oral Cancer Asian Indian- Marathi
20030528052 114 1 Control Region Oral Cancer Asian Indian- Marathi
20030528140 125 1 Control Region Oral Cancer Asian Indian
20030527004 131 1 Control Region Oral Cancer Asian Indian- Gujarati
20030528114 132 1 Control Region Oral Cancer Asian Indian- Marathi
20030528115 133 1 Control Region Oral Cancer Asian Indian- Marathi
20030527023 135 1 Control Region Oral Cancer Asian Indian
20030528053 139 1 Control Region Oral Cancer Asian Indian- Marathi
20030528141 140 1 Control Region Oral Cancer Asian Indian
20030527024 142 1 Control Region Oral Cancer Asian Indian
20030529027 143 1 Control Region Oral Cancer Asian Indian
20030528116 145 1 Control Region Oral Cancer Asian Indian- Marathi
20030528153 146 1 Control Region Oral Cancer Asian Indian
20030528142 151 1 Control Region Oral Cancer Asian Indian
20140513002 152 1pb Control Region Breast cancer Senegalese
20030529002 152 1 Control Region Oral Cancer Asian Indian- Bihari
20030529028 155 1 Control Region Oral Cancer Asian Indian
20030528143 156 1 Control Region Oral Cancer Asian Indian
20030528144 157 1 Control Region Oral Cancer Asian Indian
20030529003 159 1 Control Region Oral Cancer Asian Indian
20030529021 160 1 Control Region Oral Cancer Asian Indian- Marathi
20030529031 165 1 Control Region Oral Cancer Asian Indian
20030529005 165 1 Control Region Oral Cancer Asian Indian- Bihari
20030529006 166 1 Control Region Oral Cancer Asian Indian- Bihari
20030528145 167 1 Control Region Oral Cancer Asian Indian
20030528155 168 1 Control Region Oral Cancer Asian Indian
20030528146 176 1 Control Region Oral Cancer Asian Indian
20030528147 177 1 Control Region Oral Cancer Asian Indian
20030529022 178 1 Control Region Oral Cancer Asian Indian- Marathi
20030527026 181 1 Control Region Oral Cancer Asian Indian
20030527009 216 1 Control Region Oral Cancer Asian Indian- Gujarati
20030528055 217 1 Control Region Oral Cancer Asian Indian- Marathi
20030528011 294 1 Control Region Oral Cancer Asian Indian- Bengali
20040720017 494 1 Control Region Breast Cancer Asian
20111018001 498 1 Control Region normal Mestizo / Colombian
20091031003 513 1 Control Region Normal Kelantan Malays
20091031004 514 1 Control Region Normal Kelantan Malays
20050330001 515 2 Control Region Leigh Syndrome Russian
20030415001 516 2 Control Region Deafness Asian
20101227003 523 1 Control Region Oral cancer Asian-Bengali
20071219003 1139 1 MT-RNR1 Normal Caucasian
20140630010 2949 5 MT-RNR2 Glioma  
20140214012 7402 1 MT-CO1 isolated complex IV deficiency Caucasian
20071219005 7466 1 MT-TS1 Normal Caucasian
20140214010 9203 2 MT-ATP5 hypotonia, deafness and pyramidal signs  
20140630003 9477 1 MT-CO3 Temporal lobe epilepsy with hippocampal sclerosis  
20140214024 10224 2380 MT-ND3 and following Kearns-Sayre syndrome Caucasian
20010424006 11038 1 MT-ND4 Sporadic Parathyroid Adenoma -
20040209034 11797 1 MT-ND4 Oral Cancer MARATHI
20140214023 12113 2309   myopathy Caucasian
20140630004 14812 1 MT-CYB Temporal lobe epilepsy with hippocampal sclerosis  
20140422001 15530 1pb MT-CYB Breast cancer Senegalese
20140422003 15568 1pb MT-CYB Breast cancer Senegalese
20140422006 15585 1pb MT-CYB Breast cancer Senegalese
20140422009 15592 1pb MT-CYB Breast cancer Senegalese
19990316054 15944 1 MT-TT - -
20030528040 16051 1 Control Region Oral Cancer Asian Indian- Marathi
20030528012 16053 1 Control Region Oral Cancer Asian Indian- Marathi
20030528072 16054 1 Control Region Oral Cancer Asian Indian- Marathi
20030527031 16054 1 Control Region Oral Cancer Asian Indian- Bengali
20030528089 16059 1 Control Region Oral Cancer Asian Indian- Gujarati
20030528042 16110 1 Control Region Oral Cancer Asian Indian- Marathi
20090928001 16166 1 Control Region Normal Malay
20030528050 16366 1 Control Region Oral Cancer Asian Indian- Marathi
20100908004 16391 1 Control Region Oral cancer Indian- Bengali
20030528093 16419 1 Control Region Oral Cancer Asian Indian- Gujarati
20030528094 16420 1 Control Region Oral Cancer Asian Indian- Gujarati
20030528095 16437 1 Control Region Oral Cancer Asian Indian- Gujarati
20030528096 16451 1 Control Region Oral Cancer Asian Indian- Gujarati
20030528097 16460 1 Control Region Oral Cancer Asian Indian- Gujarati
20030528098 16465 1 Control Region Oral Cancer Asian Indian- Gujarati
20030528099 16475 1 Control Region Oral Cancer Asian Indian- Gujarati
20030528100 16485 1 Control Region Oral Cancer Asian Indian- Gujarati
20030528101 16494 1 Control Region Oral Cancer Asian Indian- Gujarati

Complex

Details and Citation Type Locus / Gene Patient Group / Phenotype Ethnographic Info
20050119001 duplication Control Region Normal Iraqi

Others

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Topic revision: r10 - 15 Mar 2011 - 14:24:10 - MarieLott
 
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