TOP1MT (DNA topoisomerase I mitochondrial) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: TOP1MT (DNA topoisomerase I mitochondrial) Homo sapiens
Analyze
Symbol: TOP1MT
Name: DNA topoisomerase I mitochondrial
RGD ID: 1351494
HGNC Page HGNC:29787
Description: Predicted to enable DNA topoisomerase type I (single strand cut, ATP-independent) activity. Predicted to be involved in DNA replication and DNA topological change. Located in mitochondrial nucleoid and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DNA topoisomerase I, mitochondrial; mitochondrial DNA topoisomerase I; mitochondrial topoisomerase IB; topoisomerase (DNA) I, mitochondrial
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388143,309,324 - 143,359,977 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8143,304,384 - 143,359,979 (-)EnsemblGRCh38hg38GRCh38
GRCh378144,391,494 - 144,442,147 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,462,901 - 144,488,425 (-)NCBINCBI36Build 36hg18NCBI36
Build 348144,462,904 - 144,488,425NCBI
Celera8140,700,651 - 140,727,260 (-)NCBICelera
Cytogenetic Map8q24.3NCBI
HuRef8139,629,915 - 139,695,642 (-)NCBIHuRef
CHM1_18144,431,738 - 144,482,220 (-)NCBICHM1_1
T2T-CHM13v2.08144,456,634 - 144,507,610 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
chromosome  (IEA)
mitochondrial nucleoid  (IBA,IDA,IEA)
mitochondrion  (IDA,IEA)
nucleolus  (IEA)
nucleoplasm  (IDA)
nucleus  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
4. Human mitochondrial topoisomerase I. Zhang H, etal., Proc Natl Acad Sci U S A 2001 Sep 11;98(19):10608-13. Epub 2001 Aug 28.
Additional References at PubMed
PMID:15096574   PMID:16712791   PMID:17161897   PMID:18029348   PMID:18063578   PMID:18826252   PMID:19720733   PMID:20453000   PMID:20843780   PMID:20877624   PMID:21531700   PMID:21873635  
PMID:23261817   PMID:23422507   PMID:24172750   PMID:25402006   PMID:25963833   PMID:26496610   PMID:28874393   PMID:29449217   PMID:30463901   PMID:30622257   PMID:31586073   PMID:32744500  
PMID:33536335   PMID:33961781   PMID:34662580   PMID:35271311   PMID:35944360   PMID:36030054   PMID:36215039   PMID:36574265   PMID:37129502   PMID:37923603  


Genomics

Comparative Map Data
TOP1MT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388143,309,324 - 143,359,977 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8143,304,384 - 143,359,979 (-)EnsemblGRCh38hg38GRCh38
GRCh378144,391,494 - 144,442,147 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,462,901 - 144,488,425 (-)NCBINCBI36Build 36hg18NCBI36
Build 348144,462,904 - 144,488,425NCBI
Celera8140,700,651 - 140,727,260 (-)NCBICelera
Cytogenetic Map8q24.3NCBI
HuRef8139,629,915 - 139,695,642 (-)NCBIHuRef
CHM1_18144,431,738 - 144,482,220 (-)NCBICHM1_1
T2T-CHM13v2.08144,456,634 - 144,507,610 (-)NCBIT2T-CHM13v2.0
Top1mt
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391575,528,878 - 75,551,184 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1575,528,884 - 75,550,649 (-)EnsemblGRCm39 Ensembl
GRCm381575,657,033 - 75,678,800 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1575,657,035 - 75,678,800 (-)EnsemblGRCm38mm10GRCm38
MGSCv371575,487,463 - 75,509,220 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361575,484,288 - 75,506,045 (-)NCBIMGSCv36mm8
Celera1577,157,202 - 77,179,081 (-)NCBICelera
Cytogenetic Map15D3NCBI
cM Map1534.69NCBI
Top1mt
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87109,223,269 - 109,248,855 (-)NCBIGRCr8
mRatBN7.27107,338,092 - 107,368,125 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7107,342,527 - 107,366,049 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7109,077,854 - 109,100,706 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07111,301,524 - 111,324,376 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07111,247,445 - 111,270,297 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07116,688,801 - 116,714,421 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7116,688,701 - 116,712,387 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07116,582,993 - 116,608,875 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47113,596,083 - 113,619,109 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17113,630,312 - 113,653,339 (-)NCBI
Celera7103,705,366 - 103,728,376 (-)NCBICelera
Cytogenetic Map7q34NCBI
Top1mt
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554542,021,563 - 2,046,190 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554542,020,884 - 2,045,939 (-)NCBIChiLan1.0ChiLan1.0
TOP1MT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27160,779,424 - 160,836,852 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan18136,303,888 - 136,354,388 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v08140,056,468 - 140,106,510 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.18143,077,224 - 143,125,987 (-)NCBIpanpan1.1PanPan1.1panPan2
TOP1MT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl41,148,890 - 1,188,130 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.141,134,179 - 1,188,149 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.241,068,174 - 1,125,241 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TOP1MT
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_0236660392,358,192 - 2,387,321 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Top1mt
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473513,417,185 - 13,441,097 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TOP1MT
167 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3		 pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:143329374-143531855)x3 copy number gain See cases [RCV000134350] Chr8:143329374..143531855 [GRCh38]
Chr8:144411544..144614025 [GRCh37]
Chr8:144482919..144685168 [NCBI36]
Chr8:8q24.3		 uncertain significance
GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1 copy number loss See cases [RCV000135981] Chr8:142201468..144002730 [GRCh38]
Chr8:143282829..145076898 [GRCh37]
Chr8:143280736..145148886 [NCBI36]
Chr8:8q24.3		 pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3		 likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3		 likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1 copy number loss See cases [RCV000140913] Chr8:141738068..144140607 [GRCh38]
Chr8:142764538..145195510 [GRCh37]
Chr8:142823655..145267498 [NCBI36]
Chr8:8q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3		 pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
NM_052963.3(TOP1MT):c.1125C>G (p.Asn375Lys) single nucleotide variant Inborn genetic diseases [RCV003268462] Chr8:143321222 [GRCh38]
Chr8:144403392 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.935C>T (p.Ala312Val) single nucleotide variant not provided [RCV001888904] Chr8:143324024 [GRCh38]
Chr8:144406194 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3		 likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_052963.3(TOP1MT):c.1081G>C (p.Val361Leu) single nucleotide variant Inborn genetic diseases [RCV003257222] Chr8:143321266 [GRCh38]
Chr8:144403436 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.893G>A (p.Arg298Gln) single nucleotide variant Inborn genetic diseases [RCV003248078]|not provided [RCV003779879] Chr8:143324066 [GRCh38]
Chr8:144406236 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:144056476-144733805)x1 copy number loss not provided [RCV000747921] Chr8:144056476..144733805 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:144379934-144399886)x1 copy number loss not provided [RCV000747933] Chr8:144379934..144399886 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:144411767-144510467)x3 copy number gain not provided [RCV000747934] Chr8:144411767..144510467 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_052963.3(TOP1MT):c.148G>A (p.Gly50Arg) single nucleotide variant Inborn genetic diseases [RCV003271812] Chr8:143331314 [GRCh38]
Chr8:144413484 [GRCh37]
Chr8:8q24.3		 likely benign
GRCh37/hg19 8q24.3(chr8:143570920-144459613)x1 copy number loss not provided [RCV001006151] Chr8:143570920..144459613 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3		 pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:144320365-144624272)x3 copy number gain not provided [RCV001006154] Chr8:144320365..144624272 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3		 pathogenic
NM_052963.3(TOP1MT):c.994G>A (p.Gly332Ser) single nucleotide variant Inborn genetic diseases [RCV003248971] Chr8:143321353 [GRCh38]
Chr8:144403523 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.1115G>C (p.Arg372Pro) single nucleotide variant Sensorineural hearing loss disorder [RCV001201403] Chr8:143321232 [GRCh38]
Chr8:144403402 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.1712G>A (p.Arg571Gln) single nucleotide variant Inborn genetic diseases [RCV003291660] Chr8:143309535 [GRCh38]
Chr8:144391705 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.766G>A (p.Val256Ile) single nucleotide variant not provided [RCV001657367] Chr8:143324535 [GRCh38]
Chr8:144406705 [GRCh37]
Chr8:8q24.3		 benign
NM_052963.3(TOP1MT):c.955G>C (p.Asp319His) single nucleotide variant not provided [RCV001907802] Chr8:143324004 [GRCh38]
Chr8:144406174 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1 copy number loss not provided [RCV001006152] Chr8:143616831..144930611 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_052963.3(TOP1MT):c.1704-5C>T single nucleotide variant not provided [RCV000890060] Chr8:143309548 [GRCh38]
Chr8:144391718 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q24.3(chr8:143895666-144568446)x3 copy number gain not provided [RCV002472598] Chr8:143895666..144568446 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3		 pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3		 likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:144285728-144534781)x3 copy number gain not provided [RCV001259511] Chr8:144285728..144534781 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 copy number gain See cases [RCV002285066] Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
NM_052963.3(TOP1MT):c.332G>A (p.Arg111Gln) single nucleotide variant not provided [RCV001945408] Chr8:143329378 [GRCh38]
Chr8:144411548 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771) copy number gain not specified [RCV002053797] Chr8:130863093..146295771 [GRCh37]
Chr8:8q24.21-24.3		 pathogenic
NM_052963.3(TOP1MT):c.1597C>T (p.Gln533Ter) single nucleotide variant not provided [RCV001943920] Chr8:143310174 [GRCh38]
Chr8:144392344 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.740C>T (p.Thr247Met) single nucleotide variant not provided [RCV001959977] Chr8:143324561 [GRCh38]
Chr8:144406731 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.985A>G (p.Lys329Glu) single nucleotide variant not provided [RCV002030143] Chr8:143321362 [GRCh38]
Chr8:144403532 [GRCh37]
Chr8:8q24.3		 uncertain significance
NC_000008.10:g.(?_144295143)_(145701139_?)del deletion Brown-Vialetto-van Laere syndrome 2 [RCV001939634]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001962911] Chr8:144295143..145701139 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_052963.3(TOP1MT):c.1408C>T (p.Arg470Ter) single nucleotide variant not provided [RCV002036394] Chr8:143316049 [GRCh38]
Chr8:144398219 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.911G>A (p.Arg304Gln) single nucleotide variant Inborn genetic diseases [RCV002555331]|not provided [RCV001898788] Chr8:143324048 [GRCh38]
Chr8:144406218 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_052963.3(TOP1MT):c.598C>T (p.Arg200Cys) single nucleotide variant not provided [RCV002030654] Chr8:143325419 [GRCh38]
Chr8:144407589 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.360+3A>G single nucleotide variant not provided [RCV001959497] Chr8:143329347 [GRCh38]
Chr8:144411517 [GRCh37]
Chr8:8q24.3		 uncertain significance
NC_000008.10:g.(?_143822561)_(145743168_?)dup duplication Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV003107890]|Holoprosencephaly sequence [RCV003107891]|not provided [RCV001922894] Chr8:143822561..145743168 [GRCh37]
Chr8:8q24.3		 uncertain significance|no classifications from unflagged records
NM_052963.3(TOP1MT):c.65G>A (p.Arg22His) single nucleotide variant not provided [RCV001920783] Chr8:143334797 [GRCh38]
Chr8:144416967 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.969G>A (p.Leu323=) single nucleotide variant not provided [RCV002206705] Chr8:143321378 [GRCh38]
Chr8:144403548 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.1662G>A (p.Thr554=) single nucleotide variant not provided [RCV002071663] Chr8:143310109 [GRCh38]
Chr8:144392279 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.1215+8G>A single nucleotide variant not provided [RCV002125003] Chr8:143318010 [GRCh38]
Chr8:144400180 [GRCh37]
Chr8:8q24.3		 benign
NM_052963.3(TOP1MT):c.1554-18C>T single nucleotide variant not provided [RCV002148320] Chr8:143310235 [GRCh38]
Chr8:144392405 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.201C>T (p.Tyr67=) single nucleotide variant not provided [RCV002190630] Chr8:143331261 [GRCh38]
Chr8:144413431 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.238+14G>A single nucleotide variant not provided [RCV002189233] Chr8:143331210 [GRCh38]
Chr8:144413380 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.1030C>T (p.Arg344Cys) single nucleotide variant not provided [RCV002124456] Chr8:143321317 [GRCh38]
Chr8:144403487 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.1330+7_1330+8inv inversion not provided [RCV002127477] Chr8:143317715..143317716 [GRCh38]
Chr8:144399885..144399886 [GRCh37]
Chr8:8q24.3		 benign
NM_052963.3(TOP1MT):c.592C>T (p.Arg198Cys) single nucleotide variant not provided [RCV002146624] Chr8:143325425 [GRCh38]
Chr8:144407595 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.1012G>T (p.Val338Leu) single nucleotide variant not provided [RCV002115894] Chr8:143321335 [GRCh38]
Chr8:144403505 [GRCh37]
Chr8:8q24.3		 benign
NM_052963.3(TOP1MT):c.1068C>T (p.Gly356=) single nucleotide variant not provided [RCV002096923] Chr8:143321279 [GRCh38]
Chr8:144403449 [GRCh37]
Chr8:8q24.3		 benign
NM_052963.3(TOP1MT):c.672-15G>A single nucleotide variant not provided [RCV002130800] Chr8:143324644 [GRCh38]
Chr8:144406814 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.1573C>T (p.Arg525Trp) single nucleotide variant not provided [RCV002148567] Chr8:143310198 [GRCh38]
Chr8:144392368 [GRCh37]
Chr8:8q24.3		 benign
NM_052963.3(TOP1MT):c.122+9T>G single nucleotide variant not provided [RCV002116338] Chr8:143334731 [GRCh38]
Chr8:144416901 [GRCh37]
Chr8:8q24.3		 benign
NM_052963.3(TOP1MT):c.512A>G (p.Gln171Arg) single nucleotide variant not provided [RCV002215157] Chr8:143325505 [GRCh38]
Chr8:144407675 [GRCh37]
Chr8:8q24.3		 benign
NM_052963.3(TOP1MT):c.367G>A (p.Ala123Thr) single nucleotide variant not provided [RCV002214704] Chr8:143326338 [GRCh38]
Chr8:144408508 [GRCh37]
Chr8:8q24.3		 benign
NM_052963.3(TOP1MT):c.1436C>T (p.Ser479Leu) single nucleotide variant not provided [RCV002194835] Chr8:143316021 [GRCh38]
Chr8:144398191 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.698C>T (p.Ala233Val) single nucleotide variant not provided [RCV002144850] Chr8:143324603 [GRCh38]
Chr8:144406773 [GRCh37]
Chr8:8q24.3		 benign
NM_052963.3(TOP1MT):c.1230C>T (p.Asn410=) single nucleotide variant not provided [RCV002131108] Chr8:143317823 [GRCh38]
Chr8:144399993 [GRCh37]
Chr8:8q24.3		 benign
NM_052963.3(TOP1MT):c.133G>A (p.Glu45Lys) single nucleotide variant not provided [RCV002150686] Chr8:143331329 [GRCh38]
Chr8:144413499 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.1704-15T>C single nucleotide variant not provided [RCV002116140] Chr8:143309558 [GRCh38]
Chr8:144391728 [GRCh37]
Chr8:8q24.3		 benign
NM_052963.3(TOP1MT):c.59C>G (p.Pro20Arg) single nucleotide variant not provided [RCV002123022] Chr8:143334803 [GRCh38]
Chr8:144416973 [GRCh37]
Chr8:8q24.3		 benign
NM_052963.3(TOP1MT):c.360+19C>T single nucleotide variant not provided [RCV002121982] Chr8:143329331 [GRCh38]
Chr8:144411501 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.1370G>C (p.Arg457Pro) single nucleotide variant not provided [RCV002141666] Chr8:143316087 [GRCh38]
Chr8:144398257 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_052963.3(TOP1MT):c.104A>G (p.Gln35Arg) single nucleotide variant not provided [RCV002143309] Chr8:143334758 [GRCh38]
Chr8:144416928 [GRCh37]
Chr8:8q24.3		 benign
NM_052963.3(TOP1MT):c.1703+16del deletion not provided [RCV002102527] Chr8:143310052 [GRCh38]
Chr8:144392222 [GRCh37]
Chr8:8q24.3		 benign
NM_052963.3(TOP1MT):c.1326G>A (p.Thr442=) single nucleotide variant not provided [RCV002100943] Chr8:143317727 [GRCh38]
Chr8:144399897 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.1754G>A (p.Arg585Gln) single nucleotide variant not provided [RCV002160724] Chr8:143309493 [GRCh38]
Chr8:144391663 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.1032C>G (p.Arg344=) single nucleotide variant not provided [RCV002143966] Chr8:143321315 [GRCh38]
Chr8:144403485 [GRCh37]
Chr8:8q24.3		 benign
NM_052963.3(TOP1MT):c.216C>T (p.Asp72=) single nucleotide variant not provided [RCV002122737] Chr8:143331246 [GRCh38]
Chr8:144413416 [GRCh37]
Chr8:8q24.3		 benign
NM_052963.3(TOP1MT):c.1779C>T (p.Ala593=) single nucleotide variant not provided [RCV002121796] Chr8:143309468 [GRCh38]
Chr8:144391638 [GRCh37]
Chr8:8q24.3		 benign
NM_052963.3(TOP1MT):c.1216-14A>G single nucleotide variant not provided [RCV002141088] Chr8:143317851 [GRCh38]
Chr8:144400021 [GRCh37]
Chr8:8q24.3		 benign
NM_052963.3(TOP1MT):c.369G>A (p.Ala123=) single nucleotide variant not provided [RCV002136751] Chr8:143326336 [GRCh38]
Chr8:144408506 [GRCh37]
Chr8:8q24.3		 benign
NM_052963.3(TOP1MT):c.147C>T (p.Asp49=) single nucleotide variant not provided [RCV002123395] Chr8:143331315 [GRCh38]
Chr8:144413485 [GRCh37]
Chr8:8q24.3		 likely benign
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) copy number gain not provided [RCV002221452] Chr8:96496503..146295711 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
NM_052963.3(TOP1MT):c.1804T>A (p.Ter602Lys) single nucleotide variant not provided [RCV003112401] Chr8:143309443 [GRCh38]
Chr8:144391613 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.1800_1802del (p.Glu600_Phe601delinsAsp) deletion not provided [RCV003112402] Chr8:143309445..143309447 [GRCh38]
Chr8:144391615..144391617 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.790A>G (p.Met264Val) single nucleotide variant not provided [RCV003112966] Chr8:143324511 [GRCh38]
Chr8:144406681 [GRCh37]
Chr8:8q24.3		 uncertain significance
NC_000008.10:g.(?_144391611)_(144417031_?)dup duplication not provided [RCV003122991] Chr8:144391611..144417031 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
NM_052963.3(TOP1MT):c.922A>C (p.Thr308Pro) single nucleotide variant Inborn genetic diseases [RCV003262259] Chr8:143324037 [GRCh38]
Chr8:144406207 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.360+12G>C single nucleotide variant not provided [RCV002776276] Chr8:143329338 [GRCh38]
Chr8:144411508 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.64C>T (p.Arg22Cys) single nucleotide variant Inborn genetic diseases [RCV002753548] Chr8:143334798 [GRCh38]
Chr8:144416968 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.759C>T (p.Thr253=) single nucleotide variant not provided [RCV002616516] Chr8:143324542 [GRCh38]
Chr8:144406712 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.1171A>G (p.Met391Val) single nucleotide variant Inborn genetic diseases [RCV002683065] Chr8:143318062 [GRCh38]
Chr8:144400232 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.1605G>A (p.Ala535=) single nucleotide variant not provided [RCV003095450] Chr8:143310166 [GRCh38]
Chr8:144392336 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.19C>G (p.Leu7Val) single nucleotide variant not provided [RCV002686176] Chr8:143334843 [GRCh38]
Chr8:144417013 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.196C>A (p.Pro66Thr) single nucleotide variant Inborn genetic diseases [RCV002688314] Chr8:143331266 [GRCh38]
Chr8:144413436 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.331C>T (p.Arg111Trp) single nucleotide variant Inborn genetic diseases [RCV002860763]|not provided [RCV003561115] Chr8:143329379 [GRCh38]
Chr8:144411549 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.1265C>T (p.Ala422Val) single nucleotide variant not provided [RCV002975518] Chr8:143317788 [GRCh38]
Chr8:144399958 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.499del (p.Ala167fs) deletion not provided [RCV002815989] Chr8:143325518 [GRCh38]
Chr8:144407688 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.818G>C (p.Gly273Ala) single nucleotide variant Inborn genetic diseases [RCV002776738] Chr8:143324141 [GRCh38]
Chr8:144406311 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.1609C>T (p.Leu537=) single nucleotide variant not provided [RCV002776110] Chr8:143310162 [GRCh38]
Chr8:144392332 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.1333G>A (p.Glu445Lys) single nucleotide variant Inborn genetic diseases [RCV002779462] Chr8:143316124 [GRCh38]
Chr8:144398294 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.1088T>A (p.Phe363Tyr) single nucleotide variant Inborn genetic diseases [RCV002868253] Chr8:143321259 [GRCh38]
Chr8:144403429 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.1234C>T (p.His412Tyr) single nucleotide variant Inborn genetic diseases [RCV002950815] Chr8:143317819 [GRCh38]
Chr8:144399989 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.760G>A (p.Glu254Lys) single nucleotide variant not provided [RCV002740464] Chr8:143324541 [GRCh38]
Chr8:144406711 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.360+9C>A single nucleotide variant not provided [RCV002889540] Chr8:143329341 [GRCh38]
Chr8:144411511 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.154A>T (p.Lys52Ter) single nucleotide variant not provided [RCV002846957] Chr8:143331308 [GRCh38]
Chr8:144413478 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.217G>A (p.Gly73Arg) single nucleotide variant not provided [RCV002910108] Chr8:143331245 [GRCh38]
Chr8:144413415 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.224G>A (p.Arg75His) single nucleotide variant Inborn genetic diseases [RCV002703873] Chr8:143331238 [GRCh38]
Chr8:144413408 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.1502T>C (p.Leu501Pro) single nucleotide variant not provided [RCV002659295] Chr8:143315778 [GRCh38]
Chr8:144397948 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.1699G>A (p.Ala567Thr) single nucleotide variant Inborn genetic diseases [RCV002884304] Chr8:143310072 [GRCh38]
Chr8:144392242 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.1553+10C>T single nucleotide variant not provided [RCV002949272] Chr8:143315717 [GRCh38]
Chr8:144397887 [GRCh37]
Chr8:8q24.3		 benign
NM_052963.3(TOP1MT):c.1147-17C>T single nucleotide variant not provided [RCV002795453] Chr8:143318103 [GRCh38]
Chr8:144400273 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.59_61del (p.Pro20del) deletion not provided [RCV002621641] Chr8:143334801..143334803 [GRCh38]
Chr8:144416971..144416973 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.1316G>A (p.Arg439Gln) single nucleotide variant Inborn genetic diseases [RCV002887926] Chr8:143317737 [GRCh38]
Chr8:144399907 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.1093T>G (p.Phe365Val) single nucleotide variant not provided [RCV002889313] Chr8:143321254 [GRCh38]
Chr8:144403424 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.1369C>T (p.Arg457Ter) single nucleotide variant not provided [RCV003078733] Chr8:143316088 [GRCh38]
Chr8:144398258 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.1056G>C (p.Pro352=) single nucleotide variant not provided [RCV003020737] Chr8:143321291 [GRCh38]
Chr8:144403461 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.960+1G>T single nucleotide variant not provided [RCV003100487] Chr8:143323998 [GRCh38]
Chr8:144406168 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.1421G>A (p.Ser474Asn) single nucleotide variant Inborn genetic diseases [RCV002626702]|not provided [RCV002626703] Chr8:143316036 [GRCh38]
Chr8:144398206 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.1777G>A (p.Ala593Thr) single nucleotide variant Inborn genetic diseases [RCV002768689] Chr8:143309470 [GRCh38]
Chr8:144391640 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.1063G>A (p.Asp355Asn) single nucleotide variant Inborn genetic diseases [RCV003086004]|not provided [RCV003072935] Chr8:143321284 [GRCh38]
Chr8:144403454 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.1584G>C (p.Glu528Asp) single nucleotide variant Inborn genetic diseases [RCV002743485] Chr8:143310187 [GRCh38]
Chr8:144392357 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.231C>G (p.Phe77Leu) single nucleotide variant Inborn genetic diseases [RCV002930576] Chr8:143331231 [GRCh38]
Chr8:144413401 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.1194C>T (p.Asp398=) single nucleotide variant not provided [RCV003005289] Chr8:143318039 [GRCh38]
Chr8:144400209 [GRCh37]
Chr8:8q24.3		 benign
NM_052963.3(TOP1MT):c.960+11T>C single nucleotide variant not provided [RCV002574785] Chr8:143323988 [GRCh38]
Chr8:144406158 [GRCh37]
Chr8:8q24.3		 benign
NM_052963.3(TOP1MT):c.1216-6C>T single nucleotide variant not provided [RCV002957263] Chr8:143317843 [GRCh38]
Chr8:144400013 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.432C>T (p.Tyr144=) single nucleotide variant not provided [RCV003084293] Chr8:143326273 [GRCh38]
Chr8:144408443 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.239-12C>T single nucleotide variant not provided [RCV002575520] Chr8:143329483 [GRCh38]
Chr8:144411653 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.1415C>T (p.Thr472Ile) single nucleotide variant not provided [RCV002720141] Chr8:143316042 [GRCh38]
Chr8:144398212 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.1323G>A (p.Leu441=) single nucleotide variant not provided [RCV002647496] Chr8:143317730 [GRCh38]
Chr8:144399900 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.1661C>G (p.Thr554Arg) single nucleotide variant not provided [RCV002716666] Chr8:143310110 [GRCh38]
Chr8:144392280 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.1149G>A (p.Val383=) single nucleotide variant not provided [RCV002963043] Chr8:143318084 [GRCh38]
Chr8:144400254 [GRCh37]
Chr8:8q24.3		 benign
NM_052963.3(TOP1MT):c.35C>T (p.Ala12Val) single nucleotide variant not provided [RCV002962957] Chr8:143334827 [GRCh38]
Chr8:144416997 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.699G>C (p.Ala233=) single nucleotide variant not provided [RCV002647730] Chr8:143324602 [GRCh38]
Chr8:144406772 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.1553+12T>A single nucleotide variant not provided [RCV002671242] Chr8:143315715 [GRCh38]
Chr8:144397885 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.966A>C (p.Ala322=) single nucleotide variant not provided [RCV002834522] Chr8:143321381 [GRCh38]
Chr8:144403551 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.527A>C (p.Tyr176Ser) single nucleotide variant Inborn genetic diseases [RCV002832518] Chr8:143325490 [GRCh38]
Chr8:144407660 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.403A>G (p.Lys135Glu) single nucleotide variant Inborn genetic diseases [RCV002941569] Chr8:143326302 [GRCh38]
Chr8:144408472 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.144A>G (p.Glu48=) single nucleotide variant not provided [RCV003030887] Chr8:143331318 [GRCh38]
Chr8:144413488 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.696G>T (p.Pro232=) single nucleotide variant not provided [RCV002579342] Chr8:143324605 [GRCh38]
Chr8:144406775 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.931C>T (p.Arg311Trp) single nucleotide variant not provided [RCV002602371] Chr8:143324028 [GRCh38]
Chr8:144406198 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.955G>A (p.Asp319Asn) single nucleotide variant not provided [RCV002922557] Chr8:143324004 [GRCh38]
Chr8:144406174 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.1329C>T (p.Arg443=) single nucleotide variant not provided [RCV003063290] Chr8:143317724 [GRCh38]
Chr8:144399894 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.420G>T (p.Glu140Asp) single nucleotide variant not provided [RCV003060076] Chr8:143326285 [GRCh38]
Chr8:144408455 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.1328G>A (p.Arg443His) single nucleotide variant not provided [RCV002725249] Chr8:143317725 [GRCh38]
Chr8:144399895 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.1055C>T (p.Pro352Leu) single nucleotide variant not provided [RCV002603122] Chr8:143321292 [GRCh38]
Chr8:144403462 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.641C>T (p.Thr214Met) single nucleotide variant not provided [RCV002586851] Chr8:143325376 [GRCh38]
Chr8:144407546 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.1503G>T (p.Leu501=) single nucleotide variant not provided [RCV002586197] Chr8:143315777 [GRCh38]
Chr8:144397947 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.277G>A (p.Ala93Thr) single nucleotide variant not provided [RCV002942134] Chr8:143329433 [GRCh38]
Chr8:144411603 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.880C>T (p.Arg294Cys) single nucleotide variant not provided [RCV002588827] Chr8:143324079 [GRCh38]
Chr8:144406249 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.1146G>C (p.Pro382=) single nucleotide variant not provided [RCV002611443] Chr8:143321201 [GRCh38]
Chr8:144403371 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.355C>T (p.Arg119Ter) single nucleotide variant not provided [RCV003068910] Chr8:143329355 [GRCh38]
Chr8:144411525 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.48C>T (p.Leu16=) single nucleotide variant not provided [RCV002588169] Chr8:143334814 [GRCh38]
Chr8:144416984 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.1751A>C (p.Gln584Pro) single nucleotide variant Inborn genetic diseases [RCV003210124] Chr8:143309496 [GRCh38]
Chr8:144391666 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.607C>T (p.His203Tyr) single nucleotide variant Inborn genetic diseases [RCV003186305] Chr8:143325410 [GRCh38]
Chr8:144407580 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.649G>C (p.Asp217His) single nucleotide variant Inborn genetic diseases [RCV003183540] Chr8:143325368 [GRCh38]
Chr8:144407538 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.1277G>A (p.Arg426Gln) single nucleotide variant Inborn genetic diseases [RCV003179292] Chr8:143317776 [GRCh38]
Chr8:144399946 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.259G>A (p.Val87Met) single nucleotide variant Inborn genetic diseases [RCV003180046]|not provided [RCV003720784] Chr8:143329451 [GRCh38]
Chr8:144411621 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.221T>G (p.Val74Gly) single nucleotide variant Inborn genetic diseases [RCV003206141] Chr8:143331241 [GRCh38]
Chr8:144413411 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.718G>T (p.Val240Leu) single nucleotide variant Inborn genetic diseases [RCV003173588] Chr8:143324583 [GRCh38]
Chr8:144406753 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.1520A>T (p.Glu507Val) single nucleotide variant Inborn genetic diseases [RCV003364417] Chr8:143315760 [GRCh38]
Chr8:144397930 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:144282591-144740223)x3 copy number gain not provided [RCV003484757] Chr8:144282591..144740223 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.593G>A (p.Arg198His) single nucleotide variant not provided [RCV003875199] Chr8:143325424 [GRCh38]
Chr8:144407594 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.671+5G>T single nucleotide variant not provided [RCV003569134] Chr8:143325341 [GRCh38]
Chr8:144407511 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.267G>A (p.Ala89=) single nucleotide variant not provided [RCV003440715] Chr8:143329443 [GRCh38]
Chr8:144411613 [GRCh37]
Chr8:8q24.3		 likely benign
GRCh37/hg19 8q24.3(chr8:143689344-144448860)x3 copy number gain not provided [RCV003484754] Chr8:143689344..144448860 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3 copy number gain not provided [RCV003484752] Chr8:141419599..146295771 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_052963.3(TOP1MT):c.86C>G (p.Pro29Arg) single nucleotide variant not provided [RCV003572751] Chr8:143334776 [GRCh38]
Chr8:144416946 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.961-9A>C single nucleotide variant not provided [RCV003830991] Chr8:143321395 [GRCh38]
Chr8:144403565 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.1146+13G>A single nucleotide variant not provided [RCV003830689] Chr8:143321188 [GRCh38]
Chr8:144403358 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.1281C>G (p.Thr427=) single nucleotide variant not provided [RCV003545872] Chr8:143317772 [GRCh38]
Chr8:144399942 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.1099G>T (p.Gly367Trp) single nucleotide variant not provided [RCV003545625] Chr8:143321248 [GRCh38]
Chr8:144403418 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.816+7G>A single nucleotide variant not provided [RCV003575936] Chr8:143324478 [GRCh38]
Chr8:144406648 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.1369C>G (p.Arg457Gly) single nucleotide variant not provided [RCV003545488] Chr8:143316088 [GRCh38]
Chr8:144398258 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.1287C>T (p.Asn429=) single nucleotide variant not provided [RCV003545394] Chr8:143317766 [GRCh38]
Chr8:144399936 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.32C>T (p.Ala11Val) single nucleotide variant not provided [RCV003696935] Chr8:143334830 [GRCh38]
Chr8:144417000 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.923_925del (p.Thr308del) deletion not provided [RCV003717167] Chr8:143324034..143324036 [GRCh38]
Chr8:144406204..144406206 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.671+4C>T single nucleotide variant not provided [RCV003579757] Chr8:143325342 [GRCh38]
Chr8:144407512 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.239-11G>A single nucleotide variant not provided [RCV003810876] Chr8:143329482 [GRCh38]
Chr8:144411652 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.1276C>T (p.Arg426Trp) single nucleotide variant not provided [RCV003837198] Chr8:143317777 [GRCh38]
Chr8:144399947 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.985_987del (p.Lys329del) deletion not provided [RCV003561730] Chr8:143321360..143321362 [GRCh38]
Chr8:144403530..144403532 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.84C>T (p.Val28=) single nucleotide variant not provided [RCV003703572] Chr8:143334778 [GRCh38]
Chr8:144416948 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.1424C>T (p.Thr475Met) single nucleotide variant not provided [RCV003558914] Chr8:143316033 [GRCh38]
Chr8:144398203 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.799C>A (p.Pro267Thr) single nucleotide variant not provided [RCV003850142] Chr8:143324502 [GRCh38]
Chr8:144406672 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.258C>T (p.Ser86=) single nucleotide variant not provided [RCV003725961] Chr8:143329452 [GRCh38]
Chr8:144411622 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.817-6G>A single nucleotide variant not provided [RCV003668443] Chr8:143324148 [GRCh38]
Chr8:144406318 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.806C>T (p.Ser269Leu) single nucleotide variant not provided [RCV003811935] Chr8:143324495 [GRCh38]
Chr8:144406665 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.475G>A (p.Glu159Lys) single nucleotide variant not provided [RCV003672546] Chr8:143326230 [GRCh38]
Chr8:144408400 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.238+17C>T single nucleotide variant not provided [RCV003811908] Chr8:143331207 [GRCh38]
Chr8:144413377 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.1332C>T (p.Ala444=) single nucleotide variant not provided [RCV003560735] Chr8:143316125 [GRCh38]
Chr8:144398295 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.1370G>A (p.Arg457Gln) single nucleotide variant not provided [RCV003668708] Chr8:143316087 [GRCh38]
Chr8:144398257 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.671+15G>A single nucleotide variant not provided [RCV003811140] Chr8:143325331 [GRCh38]
Chr8:144407501 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.1331-11G>A single nucleotide variant not provided [RCV003835673] Chr8:143316137 [GRCh38]
Chr8:144398307 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.1455G>A (p.Thr485=) single nucleotide variant not provided [RCV003557875] Chr8:143316002 [GRCh38]
Chr8:144398172 [GRCh37]
Chr8:8q24.3		 benign
NM_052963.3(TOP1MT):c.503A>G (p.Glu168Gly) single nucleotide variant not provided [RCV003558064] Chr8:143325514 [GRCh38]
Chr8:144407684 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.1300C>T (p.Leu434=) single nucleotide variant not provided [RCV003559222] Chr8:143317753 [GRCh38]
Chr8:144399923 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.1706G>A (p.Cys569Tyr) single nucleotide variant not provided [RCV003818890] Chr8:143309541 [GRCh38]
Chr8:144391711 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.782A>G (p.Lys261Arg) single nucleotide variant not provided [RCV003847521] Chr8:143324519 [GRCh38]
Chr8:144406689 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.839T>C (p.Phe280Ser) single nucleotide variant not provided [RCV003864755] Chr8:143324120 [GRCh38]
Chr8:144406290 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.447C>T (p.Ala149=) single nucleotide variant not provided [RCV003736227] Chr8:143326258 [GRCh38]
Chr8:144408428 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.327T>C (p.Val109=) single nucleotide variant not provided [RCV003860120] Chr8:143329383 [GRCh38]
Chr8:144411553 [GRCh37]
Chr8:8q24.3		 likely benign
NM_052963.3(TOP1MT):c.28C>T (p.Arg10Trp) single nucleotide variant not provided [RCV003841668] Chr8:143334834 [GRCh38]
Chr8:144417004 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3 copy number gain not specified [RCV003986763] Chr8:144090414..145900544 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.817G>T (p.Gly273Trp) single nucleotide variant not provided [RCV003556863] Chr8:143324142 [GRCh38]
Chr8:144406312 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_052963.3(TOP1MT):c.842A>G (p.Glu281Gly) single nucleotide variant not provided [RCV003853678] Chr8:143324117 [GRCh38]
Chr8:144406287 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.1511C>T (p.Ala504Val) single nucleotide variant not provided [RCV003861613] Chr8:143315769 [GRCh38]
Chr8:144397939 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.613A>G (p.Lys205Glu) single nucleotide variant not provided [RCV003709879] Chr8:143325404 [GRCh38]
Chr8:144407574 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_052963.3(TOP1MT):c.1558C>T (p.Leu520=) single nucleotide variant not provided [RCV003711107] Chr8:143310213 [GRCh38]
Chr8:144392383 [GRCh37]
Chr8:8q24.3		 likely benign
GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3 copy number gain not provided [RCV003885521] Chr8:113392581..146364022 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4238
Count of miRNA genes:1104
Interacting mature miRNAs:1404
Transcripts:ENST00000329245, ENST00000505857, ENST00000517857, ENST00000518007, ENST00000518760, ENST00000518951, ENST00000519139, ENST00000519148, ENST00000519591, ENST00000519977, ENST00000520950, ENST00000521024, ENST00000521193, ENST00000522041, ENST00000522043, ENST00000522121, ENST00000523417, ENST00000523676, ENST00000524092
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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.

Markers in Region
RH65208  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378144,380,670 - 144,380,811UniSTSGRCh37
Build 368144,452,045 - 144,452,186RGDNCBI36
Celera8140,689,977 - 140,690,118RGD
Cytogenetic Map8q24.3UniSTS
HuRef8139,634,344 - 139,634,485UniSTS
GeneMap99-GB4 RH Map8548.76UniSTS
RH80170  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378144,379,080 - 144,379,316UniSTSGRCh37
Build 368144,450,455 - 144,450,691RGDNCBI36
Celera8140,688,387 - 140,688,623RGD
Cytogenetic Map8q24.3UniSTS
HuRef8139,632,754 - 139,632,990UniSTS
GeneMap99-GB4 RH Map8547.18UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

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 entire extraembryonic component
High
Medium 306 135 633 147 589 140 1208 76 122 132 1070 754 19 202 419 2
Low 2126 2780 1090 475 1351 324 3139 2048 3500 286 379 854 152 1002 2361 2
Below cutoff 69 8 8 69 86 1 2 8

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001258446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001258447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_052963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005250781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC087793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF349017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH011131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW248607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC027453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC044646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB149603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC375680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC399840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ204999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000329245   ⟹   ENSP00000328835
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,309,324 - 143,334,880 (-)Ensembl
RefSeq Acc Id: ENST00000505857
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,343,199 - 143,359,979 (-)Ensembl
RefSeq Acc Id: ENST00000517857
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,309,356 - 143,310,503 (-)Ensembl
RefSeq Acc Id: ENST00000518007   ⟹   ENSP00000430209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,325,522 - 143,344,984 (-)Ensembl
RefSeq Acc Id: ENST00000518760   ⟹   ENSP00000428723
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,326,290 - 143,356,046 (-)Ensembl
RefSeq Acc Id: ENST00000518951   ⟹   ENSP00000428727
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,316,000 - 143,334,863 (-)Ensembl
RefSeq Acc Id: ENST00000519139   ⟹   ENSP00000428451
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,316,092 - 143,334,056 (-)Ensembl
RefSeq Acc Id: ENST00000519148   ⟹   ENSP00000429169
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,309,360 - 143,359,977 (-)Ensembl
RefSeq Acc Id: ENST00000519591   ⟹   ENSP00000429177
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,324,060 - 143,334,854 (-)Ensembl
RefSeq Acc Id: ENST00000519977   ⟹   ENSP00000427925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,304,384 - 143,315,807 (-)Ensembl
RefSeq Acc Id: ENST00000520950   ⟹   ENSP00000430635
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,326,312 - 143,359,960 (-)Ensembl
RefSeq Acc Id: ENST00000521024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,344,737 - 143,358,666 (-)Ensembl
RefSeq Acc Id: ENST00000521193   ⟹   ENSP00000428369
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,309,356 - 143,359,924 (-)Ensembl
RefSeq Acc Id: ENST00000522041   ⟹   ENSP00000427998
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,324,000 - 143,331,811 (-)Ensembl
RefSeq Acc Id: ENST00000522043   ⟹   ENSP00000428931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,329,387 - 143,334,866 (-)Ensembl
RefSeq Acc Id: ENST00000522121   ⟹   ENSP00000430139
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,325,355 - 143,329,433 (-)Ensembl
RefSeq Acc Id: ENST00000523417   ⟹   ENSP00000430679
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,325,425 - 143,334,844 (-)Ensembl
RefSeq Acc Id: ENST00000523676   ⟹   ENSP00000429181
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,309,377 - 143,334,795 (-)Ensembl
RefSeq Acc Id: ENST00000524092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8143,332,503 - 143,334,821 (-)Ensembl
RefSeq Acc Id: NM_001258446   ⟹   NP_001245375
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,309,324 - 143,359,977 (-)NCBI
GRCh378144,391,494 - 144,442,147 (-)NCBI
HuRef8139,629,915 - 139,695,642 (-)NCBI
CHM1_18144,431,738 - 144,482,220 (-)NCBI
T2T-CHM13v2.08144,456,634 - 144,507,610 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001258447   ⟹   NP_001245376
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,309,324 - 143,359,977 (-)NCBI
GRCh378144,391,494 - 144,442,147 (-)NCBI
HuRef8139,629,915 - 139,695,642 (-)NCBI
CHM1_18144,431,738 - 144,482,220 (-)NCBI
T2T-CHM13v2.08144,456,634 - 144,507,610 (-)NCBI
Sequence:
RefSeq Acc Id: NM_052963   ⟹   NP_443195
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,309,324 - 143,334,880 (-)NCBI
GRCh378144,391,494 - 144,442,147 (-)NCBI
Build 368144,462,901 - 144,488,425 (-)NCBI Archive
Celera8140,700,651 - 140,727,260 (-)RGD
HuRef8139,629,915 - 139,695,642 (-)NCBI
CHM1_18144,431,738 - 144,457,331 (-)NCBI
T2T-CHM13v2.08144,456,634 - 144,482,645 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005250781   ⟹   XP_005250838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,309,505 - 143,334,880 (-)NCBI
GRCh378144,391,494 - 144,442,147 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047421330   ⟹   XP_047277286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,309,505 - 143,359,977 (-)NCBI
RefSeq Acc Id: XM_047421331   ⟹   XP_047277287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,309,505 - 143,334,284 (-)NCBI
RefSeq Acc Id: XM_047421332   ⟹   XP_047277288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,309,505 - 143,335,394 (-)NCBI
RefSeq Acc Id: XM_047421333   ⟹   XP_047277289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,309,324 - 143,359,977 (-)NCBI
RefSeq Acc Id: XM_047421334   ⟹   XP_047277290
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,309,324 - 143,334,280 (-)NCBI
RefSeq Acc Id: XM_047421335   ⟹   XP_047277291
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,309,505 - 143,334,880 (-)NCBI
RefSeq Acc Id: XM_047421336   ⟹   XP_047277292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,309,505 - 143,359,977 (-)NCBI
RefSeq Acc Id: XM_047421338   ⟹   XP_047277294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,309,505 - 143,335,394 (-)NCBI
RefSeq Acc Id: XM_047421339   ⟹   XP_047277295
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,309,505 - 143,359,977 (-)NCBI
RefSeq Acc Id: XM_047421340   ⟹   XP_047277296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,309,505 - 143,335,394 (-)NCBI
RefSeq Acc Id: XM_047421341   ⟹   XP_047277297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,309,505 - 143,334,284 (-)NCBI
RefSeq Acc Id: XM_047421342   ⟹   XP_047277298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,309,505 - 143,359,345 (-)NCBI
RefSeq Acc Id: XM_047421343   ⟹   XP_047277299
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,309,505 - 143,334,148 (-)NCBI
RefSeq Acc Id: XM_047421344   ⟹   XP_047277300
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,309,505 - 143,335,394 (-)NCBI
RefSeq Acc Id: XM_047421345   ⟹   XP_047277301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,310,224 - 143,359,977 (-)NCBI
RefSeq Acc Id: XM_047421346   ⟹   XP_047277302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,309,324 - 143,335,394 (-)NCBI
RefSeq Acc Id: XM_054359726   ⟹   XP_054215701
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08144,456,815 - 144,507,610 (-)NCBI
RefSeq Acc Id: XM_054359727   ⟹   XP_054215702
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08144,456,815 - 144,482,049 (-)NCBI
RefSeq Acc Id: XM_054359728   ⟹   XP_054215703
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08144,456,815 - 144,482,645 (-)NCBI
RefSeq Acc Id: XM_054359729   ⟹   XP_054215704
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08144,456,815 - 144,483,160 (-)NCBI
RefSeq Acc Id: XM_054359730   ⟹   XP_054215705
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08144,456,634 - 144,507,610 (-)NCBI
RefSeq Acc Id: XM_054359731   ⟹   XP_054215706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08144,456,634 - 144,482,045 (-)NCBI
RefSeq Acc Id: XM_054359732   ⟹   XP_054215707
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08144,456,815 - 144,482,645 (-)NCBI
RefSeq Acc Id: XM_054359733   ⟹   XP_054215708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08144,456,815 - 144,507,610 (-)NCBI
RefSeq Acc Id: XM_054359734   ⟹   XP_054215709
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08144,456,815 - 144,507,610 (-)NCBI
RefSeq Acc Id: XM_054359735   ⟹   XP_054215710
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08144,456,815 - 144,482,049 (-)NCBI
RefSeq Acc Id: XM_054359736   ⟹   XP_054215711
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08144,456,815 - 144,506,978 (-)NCBI
RefSeq Acc Id: XM_054359737   ⟹   XP_054215712
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08144,456,815 - 144,481,913 (-)NCBI
RefSeq Acc Id: XM_054359738   ⟹   XP_054215713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08144,461,910 - 144,507,610 (-)NCBI
RefSeq Acc Id: XM_054359739   ⟹   XP_054215714
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08144,456,634 - 144,483,299 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001245375 (Get FASTA)   NCBI Sequence Viewer  
  NP_001245376 (Get FASTA)   NCBI Sequence Viewer  
  NP_443195 (Get FASTA)   NCBI Sequence Viewer  
  XP_005250838 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277286 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277287 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277288 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277289 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277290 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277291 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277292 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277294 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277295 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277296 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277297 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277298 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277299 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277300 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277301 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277302 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215701 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215702 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215703 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215704 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215705 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215706 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215707 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215708 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215709 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215710 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215711 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215712 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215713 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215714 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH27453 (Get FASTA)   NCBI Sequence Viewer  
  AAH44646 (Get FASTA)   NCBI Sequence Viewer  
  AAH52285 (Get FASTA)   NCBI Sequence Viewer  
  AAH71914 (Get FASTA)   NCBI Sequence Viewer  
  AAL05624 (Get FASTA)   NCBI Sequence Viewer  
  AAL10791 (Get FASTA)   NCBI Sequence Viewer  
  ADP90414 (Get FASTA)   NCBI Sequence Viewer  
  ADP90415 (Get FASTA)   NCBI Sequence Viewer  
  ADP90416 (Get FASTA)   NCBI Sequence Viewer  
  ADP90417 (Get FASTA)   NCBI Sequence Viewer  
  ADP90418 (Get FASTA)   NCBI Sequence Viewer  
  ADP90419 (Get FASTA)   NCBI Sequence Viewer  
  ADP90420 (Get FASTA)   NCBI Sequence Viewer  
  ADP90421 (Get FASTA)   NCBI Sequence Viewer  
  ADP90422 (Get FASTA)   NCBI Sequence Viewer  
  ADP90423 (Get FASTA)   NCBI Sequence Viewer  
  ADP90424 (Get FASTA)   NCBI Sequence Viewer  
  ADP90425 (Get FASTA)   NCBI Sequence Viewer  
  ADP90426 (Get FASTA)   NCBI Sequence Viewer  
  ADP90427 (Get FASTA)   NCBI Sequence Viewer  
  ADP90428 (Get FASTA)   NCBI Sequence Viewer  
  ADP90429 (Get FASTA)   NCBI Sequence Viewer  
  ADP90430 (Get FASTA)   NCBI Sequence Viewer  
  ADP90431 (Get FASTA)   NCBI Sequence Viewer  
  ADP90432 (Get FASTA)   NCBI Sequence Viewer  
  ADP90433 (Get FASTA)   NCBI Sequence Viewer  
  ADP90434 (Get FASTA)   NCBI Sequence Viewer  
  ADP90435 (Get FASTA)   NCBI Sequence Viewer  
  ADP90436 (Get FASTA)   NCBI Sequence Viewer  
  ADP90437 (Get FASTA)   NCBI Sequence Viewer  
  ADP90438 (Get FASTA)   NCBI Sequence Viewer  
  ADP90439 (Get FASTA)   NCBI Sequence Viewer  
  ADP90440 (Get FASTA)   NCBI Sequence Viewer  
  ADP90441 (Get FASTA)   NCBI Sequence Viewer  
  ADP90442 (Get FASTA)   NCBI Sequence Viewer  
  ADP90443 (Get FASTA)   NCBI Sequence Viewer  
  ADP90444 (Get FASTA)   NCBI Sequence Viewer  
  ADP90445 (Get FASTA)   NCBI Sequence Viewer  
  ADP90446 (Get FASTA)   NCBI Sequence Viewer  
  ADP90447 (Get FASTA)   NCBI Sequence Viewer  
  ADP90448 (Get FASTA)   NCBI Sequence Viewer  
  ADP90449 (Get FASTA)   NCBI Sequence Viewer  
  ADP90450 (Get FASTA)   NCBI Sequence Viewer  
  ADP90451 (Get FASTA)   NCBI Sequence Viewer  
  ADP90452 (Get FASTA)   NCBI Sequence Viewer  
  ADP90453 (Get FASTA)   NCBI Sequence Viewer  
  BAG63694 (Get FASTA)   NCBI Sequence Viewer  
  BAG64323 (Get FASTA)   NCBI Sequence Viewer  
  BAH14284 (Get FASTA)   NCBI Sequence Viewer  
  BAH14751 (Get FASTA)   NCBI Sequence Viewer  
  EAW82259 (Get FASTA)   NCBI Sequence Viewer  
  EAW82260 (Get FASTA)   NCBI Sequence Viewer  
  EAW82261 (Get FASTA)   NCBI Sequence Viewer  
  EAW82262 (Get FASTA)   NCBI Sequence Viewer  
  EAW82263 (Get FASTA)   NCBI Sequence Viewer  
  EAW82264 (Get FASTA)   NCBI Sequence Viewer  
  EAW82265 (Get FASTA)   NCBI Sequence Viewer  
  EAW82266 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000328835
  ENSP00000328835.3
  ENSP00000427925.1
  ENSP00000427998.1
  ENSP00000428369
  ENSP00000428369.1
  ENSP00000428451.2
  ENSP00000428723.1
  ENSP00000428727.1
  ENSP00000428931.1
  ENSP00000429169
  ENSP00000429169.1
  ENSP00000429177.1
  ENSP00000429181.1
  ENSP00000430139.1
  ENSP00000430209.1
  ENSP00000430635.1
  ENSP00000430679.1
GenBank Protein Q969P6 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_443195   ⟸   NM_052963
- Peptide Label: isoform 1 precursor
- UniProtKB: Q86ST4 (UniProtKB/Swiss-Prot),   E7ES89 (UniProtKB/Swiss-Prot),   B7ZAR5 (UniProtKB/Swiss-Prot),   Q86V82 (UniProtKB/Swiss-Prot),   Q969P6 (UniProtKB/Swiss-Prot),   E5KMK7 (UniProtKB/TrEMBL),   E5KMK5 (UniProtKB/TrEMBL),   E5KMK6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001245376   ⟸   NM_001258447
- Peptide Label: isoform 2
- UniProtKB: B4DYD2 (UniProtKB/TrEMBL),   B7Z9E8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001245375   ⟸   NM_001258446
- Peptide Label: isoform 2
- UniProtKB: B4DYD2 (UniProtKB/TrEMBL),   B7Z9E8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005250838   ⟸   XM_005250781
- Peptide Label: isoform X3
- UniProtKB: E5KMK5 (UniProtKB/TrEMBL),   E5KMK6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000428727   ⟸   ENST00000518951
RefSeq Acc Id: ENSP00000428723   ⟸   ENST00000518760
RefSeq Acc Id: ENSP00000430209   ⟸   ENST00000518007
RefSeq Acc Id: ENSP00000429169   ⟸   ENST00000519148
RefSeq Acc Id: ENSP00000428451   ⟸   ENST00000519139
RefSeq Acc Id: ENSP00000427925   ⟸   ENST00000519977
RefSeq Acc Id: ENSP00000429177   ⟸   ENST00000519591
RefSeq Acc Id: ENSP00000430635   ⟸   ENST00000520950
RefSeq Acc Id: ENSP00000428369   ⟸   ENST00000521193
RefSeq Acc Id: ENSP00000430139   ⟸   ENST00000522121
RefSeq Acc Id: ENSP00000428931   ⟸   ENST00000522043
RefSeq Acc Id: ENSP00000427998   ⟸   ENST00000522041
RefSeq Acc Id: ENSP00000430679   ⟸   ENST00000523417
RefSeq Acc Id: ENSP00000429181   ⟸   ENST00000523676
RefSeq Acc Id: ENSP00000328835   ⟸   ENST00000329245
RefSeq Acc Id: XP_047277289   ⟸   XM_047421333
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047277302   ⟸   XM_047421346
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047277290   ⟸   XM_047421334
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047277292   ⟸   XM_047421336
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047277295   ⟸   XM_047421339
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047277286   ⟸   XM_047421330
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047277298   ⟸   XM_047421342
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047277288   ⟸   XM_047421332
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047277294   ⟸   XM_047421338
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047277300   ⟸   XM_047421344
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047277296   ⟸   XM_047421340
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047277291   ⟸   XM_047421335
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047277297   ⟸   XM_047421341
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047277287   ⟸   XM_047421331
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047277299   ⟸   XM_047421343
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047277301   ⟸   XM_047421345
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054215705   ⟸   XM_054359730
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054215714   ⟸   XM_054359739
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054215706   ⟸   XM_054359731
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054215708   ⟸   XM_054359733
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054215709   ⟸   XM_054359734
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054215701   ⟸   XM_054359726
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054215711   ⟸   XM_054359736
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054215704   ⟸   XM_054359729
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054215703   ⟸   XM_054359728
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054215707   ⟸   XM_054359732
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054215710   ⟸   XM_054359735
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054215702   ⟸   XM_054359727
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054215712   ⟸   XM_054359737
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054215713   ⟸   XM_054359738
- Peptide Label: isoform X8
Protein Domains
DNA topoisomerase I DNA binding eukaryotic-type   DNA topoisomerase I eukaryotic-type   Topo IB-type catalytic   Topoisomerase I C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q969P6-F1-model_v2 AlphaFold Q969P6 1-601 view protein structure

Promoters
RGD ID:7214341
Promoter ID:EPDNEW_H12917
Type:initiation region
Name:TOP1MT_1
Description:topoisomerase I, mitochondrial
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12918  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,334,880 - 143,334,940EPDNEW
RGD ID:7214345
Promoter ID:EPDNEW_H12918
Type:initiation region
Name:TOP1MT_2
Description:topoisomerase I, mitochondrial
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12917  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,360,007 - 143,360,067EPDNEW
RGD ID:6815639
Promoter ID:HG_MRA:16129
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:AK309005
Position:
Human AssemblyChrPosition (strand)Source
Build 368144,487,351 - 144,487,851 (-)MPROMDB
RGD ID:6807077
Promoter ID:HG_KWN:62257
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_052963,   UC010MFB.1,   UC010MFD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368144,488,016 - 144,488,516 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29787 AgrOrtholog
COSMIC TOP1MT COSMIC
Ensembl Genes ENSG00000184428 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000329245 ENTREZGENE
  ENST00000329245.9 UniProtKB/Swiss-Prot
  ENST00000518007.5 UniProtKB/TrEMBL
  ENST00000518760.5 UniProtKB/TrEMBL
  ENST00000518951.6 UniProtKB/TrEMBL
  ENST00000519139.6 UniProtKB/TrEMBL
  ENST00000519148 ENTREZGENE
  ENST00000519148.5 UniProtKB/Swiss-Prot
  ENST00000519591.5 UniProtKB/TrEMBL
  ENST00000519977.5 UniProtKB/TrEMBL
  ENST00000520950.5 UniProtKB/TrEMBL
  ENST00000521193 ENTREZGENE
  ENST00000521193.5 UniProtKB/Swiss-Prot
  ENST00000522041.5 UniProtKB/TrEMBL
  ENST00000522043.1 UniProtKB/TrEMBL
  ENST00000522121.5 UniProtKB/TrEMBL
  ENST00000523417.5 UniProtKB/TrEMBL
  ENST00000523676.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.10.41 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.10.132.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.170.11.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000184428 GTEx
HGNC ID HGNC:29787 ENTREZGENE
Human Proteome Map TOP1MT Human Proteome Map
InterPro DNA_brk_join_enz UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_topo_DNA_db_N_dom1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_topo_DNA_db_N_dom2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TopoI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TopoI_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TopoI_C_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TopoI_cat_a-hlx-sub_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TopoI_cat_a/b-sub_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TopoI_cat_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TopoI_DNA-bd_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TopoI_DNA-bd_euk_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TopoI_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Topoisomer_I_DNA-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:116447 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 116447 ENTREZGENE
OMIM 606387 OMIM
PANTHER DNA TOPOISOMERASE I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA TOPOISOMERASE I, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Topo_C_assoc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Topoisom_I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Topoisom_I_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134922772 PharmGKB
PRINTS EUTPISMRASEI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TOPO_IB_2 UniProtKB/Swiss-Prot
  TOPOISOMERASE_I_EUK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TOPEUc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Eukaryotic DNA topoisomerase I, dispensable insert domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56349 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56741 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DYD2 ENTREZGENE, UniProtKB/TrEMBL
  B7Z9E8 ENTREZGENE, UniProtKB/TrEMBL
  B7ZAR5 ENTREZGENE
  E5KMK5 ENTREZGENE, UniProtKB/TrEMBL
  E5KMK6 ENTREZGENE, UniProtKB/TrEMBL
  E5KMK7 ENTREZGENE, UniProtKB/TrEMBL
  E5RFE3_HUMAN UniProtKB/TrEMBL
  E5RFS0_HUMAN UniProtKB/TrEMBL
  E5RGE7_HUMAN UniProtKB/TrEMBL
  E5RGR2_HUMAN UniProtKB/TrEMBL
  E5RGR4_HUMAN UniProtKB/TrEMBL
  E5RIC7_HUMAN UniProtKB/TrEMBL
  E5RJ33_HUMAN UniProtKB/TrEMBL
  E5RJ95_HUMAN UniProtKB/TrEMBL
  E7ES89 ENTREZGENE
  H0YAR3_HUMAN UniProtKB/TrEMBL
  H0YBR3_HUMAN UniProtKB/TrEMBL
  H0YC03_HUMAN UniProtKB/TrEMBL
  Q86ST4 ENTREZGENE
  Q86V82 ENTREZGENE
  Q8TBP3_HUMAN UniProtKB/TrEMBL
  Q969P6 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B7ZAR5 UniProtKB/Swiss-Prot
  E7ES89 UniProtKB/Swiss-Prot
  Q86ST4 UniProtKB/Swiss-Prot
  Q86V82 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-08-08 TOP1MT  DNA topoisomerase I mitochondrial    topoisomerase (DNA) I, mitochondrial  Symbol and/or name change 5135510 APPROVED