Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | MELAS syndrome | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | MELAS syndrome | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | Reference Title | Reference Citation |
1. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
2. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
PMID:RP21 | PMID:12045211 | PMID:19758471 | PMID:20301403 | PMID:20301411 | PMID:22378285 |
MT-TS2 (Homo sapiens - human) |
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mt-Ts2 (Mus musculus - house mouse) |
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Variants in MT-TS2
2 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
m.12258C>A | single nucleotide variant | Cerebellar ataxia, cataract, and diabetes mellitus [RCV000010170]|Mitochondrial disease [RCV003162227]|Retinitis pigmentosa-deafness syndrome [RCV000010171] | ChrMT:12258 [GRCh38] ChrMT:12258 [GRCh37] |
pathogenic|likely pathogenic |
m.12207G>A AND Juvenile myopathy, encephalopathy, lactic acidosis | single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV002247285]|MERRF/MELAS overlap syndrome [RCV000010173] | ChrMT:12207 [GRCh38] ChrMT:12207 [GRCh37] |
pathogenic |
NC_012920.1:m.5782_13922del8141 | deletion | Primary dilated cardiomyopathy [RCV000191151] | ChrMT:5782..13922 [GRCh38] ChrMT:5782..13922 [GRCh37] |
likely pathogenic |
NC_012920.1:m.5794_14876del9083 | deletion | Primary dilated cardiomyopathy [RCV000191152] | ChrMT:5794..14876 [GRCh38] ChrMT:5794..14876 [GRCh37] |
likely pathogenic |
NC_012920.1(MT-CYB):m.12239C>T | single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851055]|Mitochondrial disease [RCV002221520]|not provided [RCV000224786] | ChrMT:12239 [GRCh38] ChrMT:12239 [GRCh37] |
pathogenic|benign |
NC_012920.1(MT-TS2):m.12236G>A | single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851053]|not provided [RCV000992385]|not specified [RCV000506174] | ChrMT:12236 [GRCh38] ChrMT:12236 [GRCh37] |
benign|uncertain significance |
NC_012920.1:m.8483_13459del4977 | deletion | Kearns-Sayre syndrome [RCV000855712]|Mitochondrial disease [RCV000495046] | ChrMT:8470..13446 [GRCh38] ChrMT:8470..13446 [GRCh37] |
pathogenic|not provided |
NC_012920.1:m.8815_13722del4908 | deletion | Mitochondrial disease [RCV000494750] | ChrMT:8815..13722 [GRCh38] ChrMT:8815..13722 [GRCh37] |
pathogenic |
NC_012920.1:m.11263_15374del4112 | deletion | Mitochondrial disease [RCV000494855] | ChrMT:11263..15374 [GRCh38] ChrMT:11263..15374 [GRCh37] |
pathogenic |
NC_012920.1:m.8839_14895del6057 | deletion | Mitochondrial disease [RCV000495147] | ChrMT:8839..14895 [GRCh38] ChrMT:8839..14895 [GRCh37] |
pathogenic |
NC_012920.1:m.12114_14420del2307 | deletion | Mitochondrial disease [RCV000495253] | ChrMT:12114..14420 [GRCh38] ChrMT:12114..14420 [GRCh37] |
pathogenic |
NC_012920.1:m.6469_15587del9119 | deletion | Mitochondrial disease [RCV000495334] | ChrMT:6468..15586 [GRCh38] ChrMT:6468..15586 [GRCh37] |
pathogenic |
NC_012920.1:m.8587_12967del4381 | deletion | Mitochondrial disease [RCV000495437] | ChrMT:8585..12965 [GRCh38] ChrMT:8585..12965 [GRCh37] |
pathogenic |
NC_012920.1:m.8290_13040del4751 | deletion | Mitochondrial disease [RCV000495493] | ChrMT:8290..13040 [GRCh38] ChrMT:8290..13040 [GRCh37] |
pathogenic |
NC_012920.1:m.10106_15067del4962 | deletion | Mitochondrial disease [RCV000495541] | ChrMT:10105..15066 [GRCh38] ChrMT:10105..15066 [GRCh37] |
pathogenic |
NC_012920.1:m.7129_13991del6863 | deletion | Mitochondrial disease [RCV000495692] | ChrMT:7126..13988 [GRCh38] ChrMT:7126..13988 [GRCh37] |
pathogenic|likely pathogenic |
NC_012920.1:m.8350_13450del | deletion | Pearson syndrome [RCV000790615] | ChrMT:8350..13450 [GRCh38] ChrMT:8350..13450 [GRCh37] |
pathogenic |
NC_012920.1(MT-CYB):m.12217A>G | single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851046]|not provided [RCV001288304] | ChrMT:12217 [GRCh38] ChrMT:12217 [GRCh37] |
benign|uncertain significance |
NC_012920.1(MT-CYB):m.12223A>G AND Juvenile myopathy, encephalopathy, lactic acidosis | single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851048] | ChrMT:12223 [GRCh38] ChrMT:12223 [GRCh37] |
benign |
NC_012920.1(MT-CYB):m.12237C>T AND Juvenile myopathy, encephalopathy, lactic acidosis | single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851054] | ChrMT:12237 [GRCh38] ChrMT:12237 [GRCh37] |
benign |
NC_012920.1(MT-CYB):m.12241del | deletion | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851056]|See cases [RCV001250990] | ChrMT:12237 [GRCh38] ChrMT:12237 [GRCh37] |
benign|uncertain significance |
NC_012920.1(MT-CYB):m.12241dup AND Juvenile myopathy, encephalopathy, lactic acidosis | duplication | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851057] | ChrMT:12236..12237 [GRCh38] ChrMT:12236..12237 [GRCh37] |
uncertain significance |
NC_012920.1(MT-CYB):m.12245T>C AND Juvenile myopathy, encephalopathy, lactic acidosis | single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851058] | ChrMT:12245 [GRCh38] ChrMT:12245 [GRCh37] |
benign |
NC_012920.1:m.8480_13440del | deletion | Pearson syndrome [RCV000790614] | ChrMT:8480..13440 [GRCh38] ChrMT:8480..13440 [GRCh37] |
pathogenic |
NC_012920.1(MT-CYB):m.12234A>G AND Juvenile myopathy, encephalopathy, lactic acidosis | single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851051] | ChrMT:12234 [GRCh38] ChrMT:12234 [GRCh37] |
benign |
NC_012920.1(MT-CYB):m.12235T>C AND Juvenile myopathy, encephalopathy, lactic acidosis | single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851052] | ChrMT:12235 [GRCh38] ChrMT:12235 [GRCh37] |
benign |
NC_012920.1(MT-CYB):m.12247T>C AND Juvenile myopathy, encephalopathy, lactic acidosis | single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851060] | ChrMT:12247 [GRCh38] ChrMT:12247 [GRCh37] |
uncertain significance |
NC_012920.1(MT-CYB):m.12250C>T AND Juvenile myopathy, encephalopathy, lactic acidosis | single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851062] | ChrMT:12250 [GRCh38] ChrMT:12250 [GRCh37] |
uncertain significance |
NC_012920.1(MT-CYB):m.12264C>T AND Juvenile myopathy, encephalopathy, lactic acidosis | single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851065] | ChrMT:12264 [GRCh38] ChrMT:12264 [GRCh37] |
pathogenic|likely pathogenic |
NC_012920.1(MT-CYB):m.12216C>T AND Juvenile myopathy, encephalopathy, lactic acidosis | single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851045] | ChrMT:12216 [GRCh38] ChrMT:12216 [GRCh37] |
benign |
NC_012920.1(MT-CYB):m.12218C>A AND Juvenile myopathy, encephalopathy, lactic acidosis | single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851047] | ChrMT:12218 [GRCh38] ChrMT:12218 [GRCh37] |
uncertain significance |
NC_012920.1(MT-CYB):m.12230A>G AND Juvenile myopathy, encephalopathy, lactic acidosis | single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851049] | ChrMT:12230 [GRCh38] ChrMT:12230 [GRCh37] |
uncertain significance |
NC_012920.1(MT-CYB):m.12231C>T AND Juvenile myopathy, encephalopathy, lactic acidosis | single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851050] | ChrMT:12231 [GRCh38] ChrMT:12231 [GRCh37] |
likely benign |
NC_012920.1(MT-CYB):m.12248A>G AND Juvenile myopathy, encephalopathy, lactic acidosis | single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851061] | ChrMT:12248 [GRCh38] ChrMT:12248 [GRCh37] |
benign |
NC_012920.1(MT-CYB):m.12213G>A AND Juvenile myopathy, encephalopathy, lactic acidosis | single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851043] | ChrMT:12213 [GRCh38] ChrMT:12213 [GRCh37] |
uncertain significance |
NC_012920.1(MT-CYB):m.12215T>C AND Juvenile myopathy, encephalopathy, lactic acidosis | single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851044] | ChrMT:12215 [GRCh38] ChrMT:12215 [GRCh37] |
benign |
NC_012920.1(MT-CYB):m.12258C>T AND Juvenile myopathy, encephalopathy, lactic acidosis | single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851064] | ChrMT:12258 [GRCh38] ChrMT:12258 [GRCh37] |
pathogenic|likely pathogenic |
NC_012920.1(MT-CYB):m.12265A>G AND Juvenile myopathy, encephalopathy, lactic acidosis | single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851066] | ChrMT:12265 [GRCh38] ChrMT:12265 [GRCh37] |
likely benign |
NC_012920.1(MT-CYB):m.12246C>T AND Juvenile myopathy, encephalopathy, lactic acidosis | single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851059] | ChrMT:12246 [GRCh38] ChrMT:12246 [GRCh37] |
benign |
NC_012920.1(MT-CYB):m.12255T>C AND Juvenile myopathy, encephalopathy, lactic acidosis | single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000851063] | ChrMT:12255 [GRCh38] ChrMT:12255 [GRCh37] |
uncertain significance |
NC_012920.1(MT-TS2):m.12246C>A | single nucleotide variant | not specified [RCV002248017] | ChrMT:12246 [GRCh38] ChrMT:12246 [GRCh37] |
uncertain significance |
Single allele | deletion | Pearson syndrome [RCV003223355] | ChrMT:10947..15537 [GRCh38] ChrMT:10947..15537 [GRCh37] |
pathogenic |
NC_012920.1:m.8993T>G | single nucleotide variant | Cerebellar ataxia [RCV000191106]|Hypertelorism [RCV000414771]|Leber optic atrophy [RCV001542706]|Leigh syndrome [RCV000010273]|Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 [RCV000754646]|Mitochondrial disease [RCV000495419]|NARP syndrome [RCV000010274]|Rod-cone dystrophy [RCV001376274]|not provided [RCV000224643]|not specified [RCV002285006] | ChrMT:8993 [GRCh38] ChrMT:8993 [GRCh37] |
pathogenic|likely pathogenic |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | adipose tissue | appendage | |
High | 2 | ||||||||||||||
Medium | 55 | 43 | 59 | 22 | 375 | 17 | 65 | 55 | 147 | 46 | 29 | 49 | 5 | 23 | 40 |
Low | 1265 | 1182 | 793 | 233 | 378 | 186 | 1620 | 1245 | 2537 | 175 | 476 | 544 | 47 | 583 | 1044 |
Below cutoff | 64 | 102 | 40 | 26 | 44 | 18 | 144 | 128 | 67 | 8 | 20 | 16 | 8 | 36 | 112 |
RefSeq Acc Id: | ENST00000387449 | ||||||||
Type: | CODING | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:7498 | AgrOrtholog |
COSMIC | MT-TS2 | COSMIC |
Ensembl Genes | ENSG00000210184 | Ensembl |
GTEx | ENSG00000210184 | GTEx |
HGNC ID | HGNC:7498 | ENTREZGENE |
Human Proteome Map | MT-TS2 | Human Proteome Map |
NCBI Gene | MT-TS2 | ENTREZGENE |
OMIM | 590085 | OMIM |
PharmGKB | PA31301 | PharmGKB |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2020-02-26 | MT-TS2 | mitochondrially encoded tRNA-Ser (AGU/C) 2 | MT-TS2 | mitochondrially encoded tRNA serine 2 (AGU/C) | Symbol and/or name change | 19259463 | PROVISIONAL |
2016-04-06 | MT-TS2 | mitochondrially encoded tRNA serine 2 (AGU/C) | RP21 | retinitis pigmentosa 21 | Data merged from RGD:1346565 | 737654 | PROVISIONAL |
2015-05-19 | MT-TS2 | mitochondrially encoded tRNA serine 2 (AGU/C) | TRNS2 | mitochondrially encoded tRNA serine 2 (AGU/C) | Symbol and/or name change | 5135510 | APPROVED |
2015-05-19 | MT-TS2 | mitochondrially encoded tRNA serine 2 (AGU/C) | TRNS2 | Symbol and/or name change | 5135510 | APPROVED | |
2014-01-07 | TRNS2 | mitochondrially encoded tRNA serine 2 (AGU/C) | MT-TS2 | mitochondrially encoded tRNA serine 2 (AGU/C) | Symbol and/or name change | 5135510 | APPROVED |
2014-01-07 | TRNS2 | mitochondrially encoded tRNA serine 2 (AGU/C) | MT-TS2 | Symbol and/or name change | 5135510 | APPROVED |