TOP3A (DNA topoisomerase III alpha) - Rat Genome Database

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Gene: TOP3A (DNA topoisomerase III alpha) Homo sapiens
Analyze
Symbol: TOP3A
Name: DNA topoisomerase III alpha
RGD ID: 1319604
HGNC Page HGNC:11992
Description: Enables DNA topoisomerase type I (single strand cut, ATP-independent) activity and single-stranded DNA binding activity. Involved in DNA metabolic process and chromosome separation. Located in PML body. Part of RecQ family helicase-topoisomerase III complex. Implicated in autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DNA topoisomerase 3-alpha; MGRISCE2; PEOB5; TOP3; topo III-alpha; topoisomerase (DNA) III alpha; ZGRF7; zinc finger, GRF-type containing 7
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381718,271,428 - 18,314,994 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1718,271,428 - 18,315,007 (-)EnsemblGRCh38hg38GRCh38
GRCh371718,174,742 - 18,218,308 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361718,117,960 - 18,159,046 (-)NCBINCBI36Build 36hg18NCBI36
Build 341718,117,959 - 18,159,046NCBI
Celera1719,118,328 - 19,159,392 (-)NCBICelera
Cytogenetic Map17p11.2NCBI
HuRef1717,930,468 - 17,971,853 (-)NCBIHuRef
CHM1_11718,186,015 - 18,227,080 (-)NCBICHM1_1
T2T-CHM13v2.01718,218,234 - 18,261,800 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8622991   PMID:9114025   PMID:9748294   PMID:10352172   PMID:10710432   PMID:10728666   PMID:10734115   PMID:10739669   PMID:10825162   PMID:10945498   PMID:11406610   PMID:11470874  
PMID:11997338   PMID:12209014   PMID:12433984   PMID:12477932   PMID:12724401   PMID:12973351   PMID:15489334   PMID:15775963   PMID:16116422   PMID:16537486   PMID:16546998   PMID:16595695  
PMID:17728255   PMID:18390547   PMID:18418389   PMID:19432957   PMID:19742304   PMID:20064461   PMID:20347429   PMID:20360068   PMID:20445207   PMID:20711169   PMID:20826342   PMID:20843780  
PMID:21240188   PMID:21466675   PMID:21873635   PMID:22050635   PMID:22145905   PMID:22343915   PMID:22672768   PMID:22705371   PMID:22939629   PMID:23509288   PMID:23543748   PMID:24108125  
PMID:24126761   PMID:24239288   PMID:24332808   PMID:24509834   PMID:24526736   PMID:24699063   PMID:24984776   PMID:25200081   PMID:25659033   PMID:25921289   PMID:26186194   PMID:26344197  
PMID:26496610   PMID:26638075   PMID:26972000   PMID:27453043   PMID:27723720   PMID:28176834   PMID:28514442   PMID:29290614   PMID:29331416   PMID:29656893   PMID:30057030   PMID:30279242  
PMID:30804394   PMID:30804502   PMID:30884312   PMID:31091453   PMID:31180492   PMID:31846834   PMID:32528060   PMID:32877691   PMID:32924931   PMID:33631320   PMID:33644029   PMID:33961781  
PMID:34079125   PMID:34373451   PMID:34800366   PMID:35013556   PMID:35032074   PMID:35102151   PMID:35115525   PMID:35271311   PMID:35439318   PMID:35563538   PMID:35748872   PMID:35831314  
PMID:35920001   PMID:36129980   PMID:36215039   PMID:36215168   PMID:36529288   PMID:37013609   PMID:37866880   PMID:38580884   PMID:38777146  


Genomics

Comparative Map Data
TOP3A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381718,271,428 - 18,314,994 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1718,271,428 - 18,315,007 (-)EnsemblGRCh38hg38GRCh38
GRCh371718,174,742 - 18,218,308 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361718,117,960 - 18,159,046 (-)NCBINCBI36Build 36hg18NCBI36
Build 341718,117,959 - 18,159,046NCBI
Celera1719,118,328 - 19,159,392 (-)NCBICelera
Cytogenetic Map17p11.2NCBI
HuRef1717,930,468 - 17,971,853 (-)NCBIHuRef
CHM1_11718,186,015 - 18,227,080 (-)NCBICHM1_1
T2T-CHM13v2.01718,218,234 - 18,261,800 (-)NCBIT2T-CHM13v2.0
Top3a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391160,629,014 - 60,668,099 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1160,630,884 - 60,668,191 (-)EnsemblGRCm39 Ensembl
GRCm381160,738,209 - 60,777,365 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1160,740,058 - 60,777,365 (-)EnsemblGRCm38mm10GRCm38
MGSCv371160,553,561 - 60,590,867 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361160,556,254 - 60,593,560 (-)NCBIMGSCv36mm8
Celera1165,000,916 - 65,014,847 (-)NCBICelera
Cytogenetic Map11B2NCBI
cM Map1137.81NCBI
Top3a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81045,915,625 - 45,956,856 (-)NCBIGRCr8
mRatBN7.21045,419,219 - 45,457,356 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1045,419,217 - 45,457,559 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.01046,980,646 - 47,018,728 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1046,981,958 - 47,018,537 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01046,753,640 - 46,790,892 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41046,886,319 - 46,923,435 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11046,899,953 - 46,910,769 (-)NCBI
Celera1044,674,374 - 44,711,934 (-)NCBICelera
Cytogenetic Map10q22NCBI
Top3a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547811,015,378 - 11,045,717 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495547811,015,378 - 11,045,717 (+)NCBIChiLan1.0ChiLan1.0
TOP3A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21952,952,701 - 52,992,008 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11757,663,697 - 57,702,988 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01732,814,448 - 32,858,076 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11737,897,009 - 37,940,446 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1737,897,037 - 37,936,135 (+)Ensemblpanpan1.1panPan2
TOP3A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1541,262,820 - 41,290,101 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl541,263,017 - 41,290,100 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha541,402,359 - 41,429,772 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0541,369,773 - 41,397,215 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl541,369,812 - 41,397,215 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1541,337,253 - 41,364,659 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0541,284,891 - 41,312,328 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0541,476,514 - 41,503,926 (+)NCBIUU_Cfam_GSD_1.0
Top3a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560261,028,399 - 61,060,114 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367411,809,909 - 1,838,734 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367411,809,371 - 1,838,711 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TOP3A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1260,443,677 - 60,468,964 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11260,443,592 - 60,468,968 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
TOP3A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11617,315,466 - 17,358,863 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1617,316,048 - 17,358,580 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660593,546,742 - 3,586,745 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Top3a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248493,159,810 - 3,194,860 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248493,159,432 - 3,196,235 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TOP3A
336 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17p11.2(chr17:16879232-18970941)x3 copy number gain See cases [RCV000050888] Chr17:16879232..18970941 [GRCh38]
Chr17:16782546..18874254 [GRCh37]
Chr17:16723271..18814979 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:15776915-18771753)x1 copy number loss See cases [RCV000050513] Chr17:15776915..18771753 [GRCh38]
Chr17:15680229..18675066 [GRCh37]
Chr17:15620954..18615791 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:15898032-20620700)x1 copy number loss See cases [RCV000050602] Chr17:15898032..20620700 [GRCh38]
Chr17:15801346..20524013 [GRCh37]
Chr17:15742071..20464605 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16879232-20390725)x3 copy number gain See cases [RCV000050622] Chr17:16879232..20390725 [GRCh38]
Chr17:16782546..20294038 [GRCh37]
Chr17:16723271..20234630 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16879232-20390725)x1 copy number loss See cases [RCV000050624] Chr17:16879232..20390725 [GRCh38]
Chr17:16782546..20294038 [GRCh37]
Chr17:16723271..20234630 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3 copy number gain See cases [RCV000051852] Chr17:15259164..20925299 [GRCh38]
Chr17:15162481..20828612 [GRCh37]
Chr17:15103206..20769204 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:15897832-20620841)x3 copy number gain See cases [RCV000051853] Chr17:15897832..20620841 [GRCh38]
Chr17:15801146..20524154 [GRCh37]
Chr17:15741871..20464746 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16836827-20340442)x3 copy number gain See cases [RCV000051876] Chr17:16836827..20340442 [GRCh38]
Chr17:16740141..20243755 [GRCh37]
Chr17:16680866..20184347 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16656168-20390725)x3 copy number gain See cases [RCV000051855] Chr17:16656168..20390725 [GRCh38]
Chr17:16559482..20294038 [GRCh37]
Chr17:16500207..20234630 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16836827-20504849)x3 copy number gain See cases [RCV000051877] Chr17:16836827..20504849 [GRCh38]
Chr17:16740141..20408162 [GRCh37]
Chr17:16680866..20348754 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16919369-20289856)x3 copy number gain See cases [RCV000051879] Chr17:16919369..20289856 [GRCh38]
Chr17:16822683..20193169 [GRCh37]
Chr17:16763408..20133761 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16692462-20390725)x3 copy number gain See cases [RCV000051858] Chr17:16692462..20390725 [GRCh38]
Chr17:16595776..20294038 [GRCh37]
Chr17:16536501..20234630 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16713514-20582527)x3 copy number gain See cases [RCV000051860] Chr17:16713514..20582527 [GRCh38]
Chr17:16616828..20485840 [GRCh37]
Chr17:16557553..20426432 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3 copy number gain See cases [RCV000051849] Chr17:15234685..20620700 [GRCh38]
Chr17:15138002..20524013 [GRCh37]
Chr17:15078727..20464605 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16713515-20340442)x3 copy number gain See cases [RCV000051871] Chr17:16713515..20340442 [GRCh38]
Chr17:16616829..20243755 [GRCh37]
Chr17:16557554..20184347 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16760817-20429770)x3 copy number gain See cases [RCV000051872] Chr17:16760817..20429770 [GRCh38]
Chr17:16664131..20333083 [GRCh37]
Chr17:16604856..20273675 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16760818-20504849)x3 copy number gain See cases [RCV000051873] Chr17:16760818..20504849 [GRCh38]
Chr17:16664132..20408162 [GRCh37]
Chr17:16604857..20348754 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:17667721-18301995)x3 copy number gain See cases [RCV000052477] Chr17:17667721..18301995 [GRCh38]
Chr17:17571035..18205309 [GRCh37]
Chr17:17511760..18146034 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:15952071-18362819)x1 copy number loss See cases [RCV000054329] Chr17:15952071..18362819 [GRCh38]
Chr17:15855385..18266133 [GRCh37]
Chr17:15796110..18206858 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:16060129-20620841)x1 copy number loss See cases [RCV000054330] Chr17:16060129..20620841 [GRCh38]
Chr17:15963443..20524154 [GRCh37]
Chr17:15904168..20464746 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16117885-18362819)x1 copy number loss See cases [RCV000054333] Chr17:16117885..18362819 [GRCh38]
Chr17:16021199..18266133 [GRCh37]
Chr17:15961924..18206858 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16760818-20390725)x1 copy number loss See cases [RCV000054337] Chr17:16760818..20390725 [GRCh38]
Chr17:16664132..20294038 [GRCh37]
Chr17:16604857..20234630 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16817557-18362819)x1 copy number loss See cases [RCV000054339] Chr17:16817557..18362819 [GRCh38]
Chr17:16720871..18266133 [GRCh37]
Chr17:16661596..18206858 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16836827-20465067)x1 copy number loss See cases [RCV000054355] Chr17:16836827..20465067 [GRCh38]
Chr17:16740141..20368380 [GRCh37]
Chr17:16680866..20308972 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16858444-20340442)x1 copy number loss See cases [RCV000054356] Chr17:16858444..20340442 [GRCh38]
Chr17:16761758..20243755 [GRCh37]
Chr17:16702483..20184347 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16858444-20465067)x1 copy number loss See cases [RCV000054357] Chr17:16858444..20465067 [GRCh38]
Chr17:16761758..20368380 [GRCh37]
Chr17:16702483..20308972 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:17150076-18415759)x1 copy number loss See cases [RCV000054359] Chr17:17150076..18415759 [GRCh38]
Chr17:17053390..18319073 [GRCh37]
Chr17:16994115..18259798 [NCBI36]
Chr17:17p11.2		 pathogenic
NM_004618.3(TOP3A):c.2560C>T (p.Pro854Ser) single nucleotide variant Malignant melanoma [RCV000063161] Chr17:18277942 [GRCh38]
Chr17:18181256 [GRCh37]
Chr17:18121981 [NCBI36]
Chr17:17p11.2		 not provided
GRCh38/hg38 17p11.2(chr17:16879232-20316151)x3 copy number gain See cases [RCV000133695] Chr17:16879232..20316151 [GRCh38]
Chr17:16782546..20219464 [GRCh37]
Chr17:16723271..20160056 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16854250-20492169)x3 copy number gain See cases [RCV000134467] Chr17:16854250..20492169 [GRCh38]
Chr17:16757564..20395482 [GRCh37]
Chr17:16698289..20336074 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:17788412-18333372)x1 copy number loss See cases [RCV000135862] Chr17:17788412..18333372 [GRCh38]
Chr17:17691726..18236686 [GRCh37]
Chr17:17632451..18177411 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:17331511-20022528)x1 copy number loss See cases [RCV000135874] Chr17:17331511..20022528 [GRCh38]
Chr17:17234825..19925841 [GRCh37]
Chr17:17175550..19866433 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16734588-18333372)x1 copy number loss See cases [RCV000135774] Chr17:16734588..18333372 [GRCh38]
Chr17:16637902..18236686 [GRCh37]
Chr17:16578627..18177411 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16879233-20390697)x1 copy number loss See cases [RCV000135996] Chr17:16879233..20390697 [GRCh38]
Chr17:16782547..20294010 [GRCh37]
Chr17:16723272..20234602 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16734558-20390697)x3 copy number gain See cases [RCV000135997] Chr17:16734558..20390697 [GRCh38]
Chr17:16637872..20294010 [GRCh37]
Chr17:16578597..20234602 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16734558-20390697)x1 copy number loss See cases [RCV000135998] Chr17:16734558..20390697 [GRCh38]
Chr17:16637872..20294010 [GRCh37]
Chr17:16578597..20234602 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16734588-20390725)x1 copy number loss See cases [RCV000136906] Chr17:16734588..20390725 [GRCh38]
Chr17:16637902..20294038 [GRCh37]
Chr17:16578627..20234630 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16734588-20316151)x1 copy number loss See cases [RCV000136951] Chr17:16734588..20316151 [GRCh38]
Chr17:16637902..20219464 [GRCh37]
Chr17:16578627..20160056 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:15210400-18280816)x3 copy number gain See cases [RCV000137171] Chr17:15210400..18280816 [GRCh38]
Chr17:15113717..18184130 [GRCh37]
Chr17:15054442..18124855 [NCBI36]
Chr17:17p12-11.2		 pathogenic|likely pathogenic
GRCh38/hg38 17p11.2(chr17:16699816-20390725)x1 copy number loss See cases [RCV000137974] Chr17:16699816..20390725 [GRCh38]
Chr17:16603130..20294038 [GRCh37]
Chr17:16543855..20234630 [NCBI36]
Chr17:17p11.2		 pathogenic|likely benign
GRCh38/hg38 17p11.2(chr17:16854250-20492214)x3 copy number gain See cases [RCV000138255] Chr17:16854250..20492214 [GRCh38]
Chr17:16757564..20395527 [GRCh37]
Chr17:16698289..20336119 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:17331511-19017784)x3 copy number gain See cases [RCV000138572] Chr17:17331511..19017784 [GRCh38]
Chr17:17234825..18921097 [GRCh37]
Chr17:17175550..18861822 [NCBI36]
Chr17:17p11.2		 uncertain significance
GRCh38/hg38 17p11.2(chr17:16989087-20370816)x1 copy number loss See cases [RCV000139239] Chr17:16989087..20370816 [GRCh38]
Chr17:16892401..20274129 [GRCh37]
Chr17:16833126..20214721 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:17748602-18551638)x3 copy number gain See cases [RCV000139243] Chr17:17748602..18551638 [GRCh38]
Chr17:17651916..18454952 [GRCh37]
Chr17:17592641..18395677 [NCBI36]
Chr17:17p11.2		 likely benign
GRCh38/hg38 17p11.2(chr17:16854250-20560048)x3 copy number gain See cases [RCV000139188] Chr17:16854250..20560048 [GRCh38]
Chr17:16757564..20463361 [GRCh37]
Chr17:16698289..20403953 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16699694-20530646)x3 copy number gain See cases [RCV000140217] Chr17:16699694..20530646 [GRCh38]
Chr17:16603008..20433959 [GRCh37]
Chr17:16543733..20374551 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:15883037-20620700)x1 copy number loss See cases [RCV000139510] Chr17:15883037..20620700 [GRCh38]
Chr17:15786351..20524013 [GRCh37]
Chr17:15727076..20464605 [NCBI36]
Chr17:17p12-11.2		 pathogenic|likely pathogenic
GRCh38/hg38 17p11.2(chr17:16656162-20390697)x1 copy number loss See cases [RCV000139558] Chr17:16656162..20390697 [GRCh38]
Chr17:16559476..20294010 [GRCh37]
Chr17:16500201..20234602 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:17018951-20148630)x1 copy number loss See cases [RCV000141105] Chr17:17018951..20148630 [GRCh38]
Chr17:16922265..20051943 [GRCh37]
Chr17:16862990..19992535 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16699816-20492214)x3 copy number gain See cases [RCV000140852] Chr17:16699816..20492214 [GRCh38]
Chr17:16603130..20395527 [GRCh37]
Chr17:16543855..20336119 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16838097-20436415)x1 copy number loss See cases [RCV000141975] Chr17:16838097..20436415 [GRCh38]
Chr17:16741411..20339728 [GRCh37]
Chr17:16682136..20280320 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:17067833-19019419)x1 copy number loss See cases [RCV000141729] Chr17:17067833..19019419 [GRCh38]
Chr17:16971147..18922732 [GRCh37]
Chr17:16911872..18863457 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:18077127-18521388)x3 copy number gain See cases [RCV000142462] Chr17:18077127..18521388 [GRCh38]
Chr17:17980441..18424702 [GRCh37]
Chr17:17921166..18365427 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16858500-20570955)x3 copy number gain See cases [RCV000142075] Chr17:16858500..20570955 [GRCh38]
Chr17:16761814..20474268 [GRCh37]
Chr17:16702539..20414860 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:15552362-19014200)x3 copy number gain See cases [RCV000142169] Chr17:15552362..19014200 [GRCh38]
Chr17:15455676..18917513 [GRCh37]
Chr17:15396401..18858238 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16734588-18834703)x1 copy number loss See cases [RCV000142986] Chr17:16734588..18834703 [GRCh38]
Chr17:16637902..18738016 [GRCh37]
Chr17:16578627..18678741 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16696708-20492860)x3 copy number gain See cases [RCV000143381] Chr17:16696708..20492860 [GRCh38]
Chr17:16600022..20396173 [GRCh37]
Chr17:16540747..20336765 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16718415-20546210)x3 copy number gain See cases [RCV000143417] Chr17:16718415..20546210 [GRCh38]
Chr17:16621729..20449523 [GRCh37]
Chr17:16562454..20390115 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16858500-20559337)x1 copy number loss See cases [RCV000143210] Chr17:16858500..20559337 [GRCh38]
Chr17:16761814..20462650 [GRCh37]
Chr17:16702539..20403242 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1 copy number loss See cases [RCV000143177] Chr17:15883037..20658018 [GRCh38]
Chr17:15786351..20561331 [GRCh37]
Chr17:15727076..20501923 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16699816-20428292)x1 copy number loss See cases [RCV000143181] Chr17:16699816..20428292 [GRCh38]
Chr17:16603130..20331605 [GRCh37]
Chr17:16543855..20272197 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16426633-20998588)x3 copy number gain See cases [RCV000143715] Chr17:16426633..20998588 [GRCh38]
Chr17:16329947..20901901 [GRCh37]
Chr17:16270672..20842493 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1 copy number loss See cases [RCV000143650] Chr17:15850859..20649235 [GRCh38]
Chr17:15754173..20552548 [GRCh37]
Chr17:15694898..20493140 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh38/hg38 17p11.2(chr17:16853120-20436482)x1 copy number loss See cases [RCV000143596] Chr17:16853120..20436482 [GRCh38]
Chr17:16756434..20339795 [GRCh37]
Chr17:16697159..20280387 [NCBI36]
Chr17:17p11.2		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1 copy number loss See cases [RCV000143485] Chr17:15729893..20510251 [GRCh38]
Chr17:15633207..20413564 [GRCh37]
Chr17:15573932..20354156 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16603130-20261191)x1 copy number loss See cases [RCV000449069] Chr17:16603130..20261191 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p12-11.2(chr17:15767020-20261250)x3 copy number gain See cases [RCV000240104] Chr17:15767020..20261250 [GRCh37]
Chr17:17p12-11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:17053390-19893098)x1 copy number loss See cases [RCV000239910] Chr17:17053390..19893098 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16654302-20261250)x1 copy number loss See cases [RCV000240274] Chr17:16654302..20261250 [GRCh37]
Chr17:17p11.2		 pathogenic
arr[hg19]17p11.2(16,757,111-20,219,651)x3 duplication Potocki-Lupski syndrome [RCV000591005] Chr17:16757111..20219651 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16740141-20261191)x3 copy number gain See cases [RCV000449384] Chr17:16740141..20261191 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16651292-18722974)x1 copy number loss See cases [RCV000449355] Chr17:16651292..18722974 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p12-11.2(chr17:10771948-21510992)x1 copy number loss See cases [RCV000447345] Chr17:10771948..21510992 [GRCh37]
Chr17:17p12-11.2		 pathogenic
GRCh37/hg19 17p12-11.2(chr17:15745315-20261191)x1 copy number loss See cases [RCV000446498] Chr17:15745315..20261191 [GRCh37]
Chr17:17p12-11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20304295)x1 copy number loss See cases [RCV000446300] Chr17:16761814..20304295 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16637902-20261250)x1 copy number loss See cases [RCV000446465] Chr17:16637902..20261250 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:17262786-18250574)x3 copy number gain See cases [RCV000447624] Chr17:17262786..18250574 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16741771-20430791)x3 copy number gain See cases [RCV000445753] Chr17:16741771..20430791 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16757564-20261191)x1 copy number loss See cases [RCV000448145] Chr17:16757564..20261191 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20304154)x1 copy number loss See cases [RCV000448636] Chr17:16741411..20304154 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20449523)x1 copy number loss See cases [RCV000448404] Chr17:16741411..20449523 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20408379)x1 copy number loss See cases [RCV000447955] Chr17:16741411..20408379 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20462723)x1 copy number loss See cases [RCV000448752] Chr17:16761814..20462723 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16772264-20433502)x3 copy number gain See cases [RCV000448097] Chr17:16772264..20433502 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16745600-20396173)x1 copy number loss See cases [RCV000510506] Chr17:16745600..20396173 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:17200426-21900910)x1 copy number loss See cases [RCV000510254] Chr17:17200426..21900910 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20339795)x3 copy number gain See cases [RCV000510267] Chr17:16761814..20339795 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16727264-20413564)x1 copy number loss See cases [RCV000511412] Chr17:16727264..20413564 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16772264-20297091)x1 copy number loss See cases [RCV000511915] Chr17:16772264..20297091 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20410218)x1 copy number loss See cases [RCV000511460] Chr17:16741411..20410218 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16738161-20338182)x3 copy number gain See cases [RCV000511433] Chr17:16738161..20338182 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p11.2(chr17:16727264-20395889)x1 copy number loss See cases [RCV000511111] Chr17:16727264..20395889 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16651292-20437532)x3 copy number gain See cases [RCV000511042] Chr17:16651292..20437532 [GRCh37]
Chr17:17p11.2		 pathogenic
NM_004618.5(TOP3A):c.887G>C (p.Cys296Ser) single nucleotide variant Inborn genetic diseases [RCV003282667] Chr17:18301913 [GRCh38]
Chr17:18205227 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.403C>T (p.Arg135Ter) single nucleotide variant Mitochondrial disease [RCV000627803]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 [RCV000678503] Chr17:18305208 [GRCh38]
Chr17:18208522 [GRCh37]
Chr17:17p11.2		 pathogenic
NM_004618.5(TOP3A):c.298A>G (p.Met100Val) single nucleotide variant Mitochondrial disease [RCV000627802]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 [RCV000678502] Chr17:18308367 [GRCh38]
Chr17:18211681 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16591260-20473937)x3 copy number gain See cases [RCV000512356] Chr17:16591260..20473937 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16842163-20217777) copy number gain Delayed speech and language development [RCV000626511] Chr17:16842163..20217777 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20489023)x1 copy number loss See cases [RCV000512446] Chr17:16741411..20489023 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p11.2(chr17:16782546-20294038) copy number loss Sleep abnormality [RCV000626510] Chr17:16782546..20294038 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16936603-18184130) copy number loss Brachydactyly [RCV000626512] Chr17:16936603..18184130 [GRCh37]
Chr17:17p11.2		 pathogenic
NM_004618.5(TOP3A):c.2718del (p.Thr907fs) deletion Microcephaly, growth restriction, and increased sister chromatid exchange 2 [RCV000678245] Chr17:18277784 [GRCh38]
Chr17:18181098 [GRCh37]
Chr17:17p11.2		 pathogenic
NM_004618.5(TOP3A):c.2271dup (p.Arg758fs) duplication Microcephaly, growth restriction, and increased sister chromatid exchange 2 [RCV000678246]|not provided [RCV001008844] Chr17:18278230..18278231 [GRCh38]
Chr17:18181544..18181545 [GRCh37]
Chr17:17p11.2		 pathogenic
NM_004618.5(TOP3A):c.2428del (p.Ser810fs) deletion Microcephaly, growth restriction, and increased sister chromatid exchange 2 [RCV000678247] Chr17:18278074 [GRCh38]
Chr17:18181388 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16727264-20310241)x1 copy number loss not provided [RCV000683897] Chr17:16727264..20310241 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20292897)x3 copy number gain not provided [RCV000683900] Chr17:16761814..20292897 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16999980-20298979)x1 copy number loss not provided [RCV000683901] Chr17:16999980..20298979 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:17021607-20015978)x1 copy number loss not provided [RCV000683902] Chr17:17021607..20015978 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20430791)x1 copy number loss not provided [RCV000683898] Chr17:16741411..20430791 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p11.2(chr17:16768248-20391959)x1 copy number loss not provided [RCV000739423] Chr17:16768248..20391959 [GRCh37]
Chr17:17p11.2		 pathogenic
Single allele duplication Autism [RCV000754201] Chr17:16770855..20422847 [GRCh38]
Chr17:17p11.2		 pathogenic
NC_000017.11:g.(?_16770855)_(20585863_?)del deletion Autism [RCV000754202] Chr17:16770855..20585863 [GRCh38]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16660721-20417975)x1 copy number loss not provided [RCV000739417] Chr17:16660721..20417975 [GRCh37]
Chr17:17p11.2		 pathogenic
NM_004618.5(TOP3A):c.1723A>G (p.Met575Val) single nucleotide variant Inborn genetic diseases [RCV003362937]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 [RCV000787955] Chr17:18285296 [GRCh38]
Chr17:18188610 [GRCh37]
Chr17:17p11.2		 pathogenic|uncertain significance
NM_004618.5(TOP3A):c.899_900del (p.Tyr300fs) deletion Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 [RCV000787954] Chr17:18301900..18301901 [GRCh38]
Chr17:18205214..18205215 [GRCh37]
Chr17:17p11.2		 likely pathogenic
GRCh37/hg19 17p12-11.2(chr17:15796140-20331131)x3 copy number gain not provided [RCV000751941] Chr17:15796140..20331131 [GRCh37]
Chr17:17p12-11.2		 pathogenic
NM_004618.5(TOP3A):c.1751T>G (p.Leu584Arg) single nucleotide variant TOP3A-related disorder [RCV004553475]|not provided [RCV000969824] Chr17:18285268 [GRCh38]
Chr17:18188582 [GRCh37]
Chr17:17p11.2		 likely benign|conflicting interpretations of pathogenicity
NM_004618.5(TOP3A):c.315-4C>G single nucleotide variant Microcephaly, growth restriction, and increased sister chromatid exchange 2 [RCV002479130]|not provided [RCV000969314] Chr17:18306970 [GRCh38]
Chr17:18210284 [GRCh37]
Chr17:17p11.2		 benign
GRCh37/hg19 17p11.2(chr17:16842991-20217316) copy number loss Smith-Magenis syndrome [RCV000767738] Chr17:16842991..20217316 [GRCh37]
Chr17:17p11.2		 pathogenic
NM_004618.5(TOP3A):c.604G>A (p.Asp202Asn) single nucleotide variant TOP3A-related disorder [RCV004550017]|not provided [RCV000882058] Chr17:18302619 [GRCh38]
Chr17:18205933 [GRCh37]
Chr17:17p11.2		 likely benign|conflicting interpretations of pathogenicity
NM_004618.5(TOP3A):c.1459A>C (p.Ser487Arg) single nucleotide variant Inborn genetic diseases [RCV003267323] Chr17:18290850 [GRCh38]
Chr17:18194164 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.425C>T (p.Ala142Val) single nucleotide variant Inborn genetic diseases [RCV003271671] Chr17:18305186 [GRCh38]
Chr17:18208500 [GRCh37]
Chr17:17p11.2		 uncertain significance
GRCh37/hg19 17p11.2(chr17:16908991-18322254)x1 copy number loss See cases [RCV000790581] Chr17:16908991..18322254 [GRCh37]
Chr17:17p11.2		 pathogenic
NM_004618.5(TOP3A):c.432G>T (p.Val144=) single nucleotide variant TOP3A-related disorder [RCV004553447]|not provided [RCV000962570] Chr17:18305179 [GRCh38]
Chr17:18208493 [GRCh37]
Chr17:17p11.2		 benign
GRCh37/hg19 17p12-11.2(chr17:15632431-18726389)x1 copy number loss not provided [RCV001006874] Chr17:15632431..18726389 [GRCh37]
Chr17:17p12-11.2		 pathogenic
NM_004618.5(TOP3A):c.921C>T (p.Pro307=) single nucleotide variant not provided [RCV003104765] Chr17:18299628 [GRCh38]
Chr17:18202942 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.391-10C>T single nucleotide variant Microcephaly, growth restriction, and increased sister chromatid exchange 2 [RCV001838744]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 [RCV001838745]|not provided [RCV001671291] Chr17:18305230 [GRCh38]
Chr17:18208544 [GRCh37]
Chr17:17p11.2		 benign
NM_004618.5(TOP3A):c.603C>T (p.Ser201=) single nucleotide variant not provided [RCV001200117] Chr17:18302620 [GRCh38]
Chr17:18205934 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2317A>G (p.Asn773Asp) single nucleotide variant Microcephaly, growth restriction, and increased sister chromatid exchange 2 [RCV002501453]|TOP3A-related disorder [RCV004550068]|not provided [RCV000889791] Chr17:18278185 [GRCh38]
Chr17:18181499 [GRCh37]
Chr17:17p11.2		 benign|likely benign
NM_004618.5(TOP3A):c.1381G>A (p.Ala461Thr) single nucleotide variant not provided [RCV000957428] Chr17:18290928 [GRCh38]
Chr17:18194242 [GRCh37]
Chr17:17p11.2		 benign
NM_004618.5(TOP3A):c.460G>A (p.Glu154Lys) single nucleotide variant Inborn genetic diseases [RCV003365431]|not provided [RCV001562121] Chr17:18305151 [GRCh38]
Chr17:18208465 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2160T>A (p.Phe720Leu) single nucleotide variant not provided [RCV002681108] Chr17:18278342 [GRCh38]
Chr17:18181656 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2588C>T (p.Ala863Val) single nucleotide variant See cases [RCV002253051] Chr17:18277914 [GRCh38]
Chr17:18181228 [GRCh37]
Chr17:17p11.2		 uncertain significance
GRCh37/hg19 17p11.2(chr17:16664739-20370783) copy number gain Potocki-Lupski syndrome [RCV003236713] Chr17:16664739..20370783 [GRCh37]
Chr17:17p11.2		 pathogenic
NM_004618.5(TOP3A):c.1906G>C (p.Gly636Arg) single nucleotide variant Inborn genetic diseases [RCV003253095] Chr17:18282813 [GRCh38]
Chr17:18186127 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2228C>G (p.Thr743Ser) single nucleotide variant Microcephaly, growth restriction, and increased sister chromatid exchange 2 [RCV002471941]|not provided [RCV002573621] Chr17:18278274 [GRCh38]
Chr17:18181588 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2820C>T (p.Thr940=) single nucleotide variant not provided [RCV001171930] Chr17:18277682 [GRCh38]
Chr17:18180996 [GRCh37]
Chr17:17p11.2		 benign|likely benign
GRCh37/hg19 17p11.2(chr17:18125256-18304190)x3 copy number gain not provided [RCV001259292] Chr17:18125256..18304190 [GRCh37]
Chr17:17p11.2		 uncertain significance
GRCh37/hg19 17p12-11.2(chr17:15810015-18537436)x1 copy number loss not provided [RCV001259296] Chr17:15810015..18537436 [GRCh37]
Chr17:17p12-11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:17151140-20187953) copy number loss Smith-Magenis syndrome [RCV002280652] Chr17:17151140..20187953 [GRCh37]
Chr17:17p11.2		 pathogenic
NM_004618.5(TOP3A):c.1155del (p.Asp386fs) deletion not provided [RCV001311482] Chr17:18292771 [GRCh38]
Chr17:18196085 [GRCh37]
Chr17:17p11.2		 likely pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20330062)x3 copy number gain not provided [RCV001259290] Chr17:16761814..20330062 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16763370-20395611)x1 copy number loss not provided [RCV001259291] Chr17:16763370..20395611 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16651292-20286898) copy number loss Smith-Magenis syndrome [RCV002280651] Chr17:16651292..20286898 [GRCh37]
Chr17:17p11.2		 pathogenic
NM_004618.5(TOP3A):c.2989del (p.Cys997fs) deletion not provided [RCV002613534] Chr17:18274819 [GRCh38]
Chr17:18178133 [GRCh37]
Chr17:17p11.2		 pathogenic|uncertain significance
NM_004618.5(TOP3A):c.2056C>T (p.Arg686Cys) single nucleotide variant Microcephaly, growth restriction, and increased sister chromatid exchange 2 [RCV001329298]|not provided [RCV002546314] Chr17:18280624 [GRCh38]
Chr17:18183938 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.241-13T>G single nucleotide variant Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 [RCV001329299] Chr17:18308437 [GRCh38]
Chr17:18211751 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1982G>A (p.Cys661Tyr) single nucleotide variant Inborn genetic diseases [RCV002546313]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 [RCV001329297] Chr17:18282737 [GRCh38]
Chr17:18186051 [GRCh37]
Chr17:17p11.2		 uncertain significance
GRCh37/hg19 17p11.2(chr17:17145361-20137943) copy number loss Smith-Magenis syndrome [RCV001352632] Chr17:17145361..20137943 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16601603-20063369) copy number gain Potocki-Lupski syndrome [RCV001352635] Chr17:16601603..20063369 [GRCh37]
Chr17:17p11.2		 pathogenic
NM_004618.5(TOP3A):c.1643G>A (p.Arg548Gln) single nucleotide variant Microcephaly, growth restriction, and increased sister chromatid exchange 2 [RCV002272458]|not provided [RCV001357648] Chr17:18285475 [GRCh38]
Chr17:18188789 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1651G>A (p.Val551Met) single nucleotide variant Sensorineural hearing loss disorder [RCV001353210] Chr17:18285467 [GRCh38]
Chr17:18188781 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.3G>C (p.Met1Ile) single nucleotide variant not provided [RCV001783892] Chr17:18314776 [GRCh38]
Chr17:18218090 [GRCh37]
Chr17:17p11.2		 likely pathogenic
NM_004618.5(TOP3A):c.2473C>T (p.Arg825Cys) single nucleotide variant Inborn genetic diseases [RCV004047369]|not provided [RCV003094006]|not specified [RCV002248908] Chr17:18278029 [GRCh38]
Chr17:18181343 [GRCh37]
Chr17:17p11.2		 uncertain significance
GRCh37/hg19 17p11.2(chr17:16829153-20361747)x3 copy number gain Potocki-Lupski syndrome [RCV001801179] Chr17:16829153..20361747 [GRCh37]
Chr17:17p11.2		 pathogenic
NM_004618.5(TOP3A):c.207G>T (p.Lys69Asn) single nucleotide variant Inborn genetic diseases [RCV004040167]|not provided [RCV001772599] Chr17:18308915 [GRCh38]
Chr17:18212229 [GRCh37]
Chr17:17p11.2		 uncertain significance
NC_000017.10:g.(?_16842861)_(19578885_?)del deletion Immunodeficiency, common variable, 2 [RCV002049406]|Joubert syndrome [RCV002047402] Chr17:16842861..19578885 [GRCh37]
Chr17:17p11.2		 pathogenic
NM_004618.5(TOP3A):c.2809G>A (p.Asp937Asn) single nucleotide variant not provided [RCV001950264] Chr17:18277693 [GRCh38]
Chr17:18181007 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.377T>G (p.Phe126Cys) single nucleotide variant not provided [RCV001895515] Chr17:18306904 [GRCh38]
Chr17:18210218 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2999_3003del (p.Asn1000fs) deletion not provided [RCV001967648] Chr17:18274805..18274809 [GRCh38]
Chr17:18178119..18178123 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2022-39C>A single nucleotide variant Microcephaly, growth restriction, and increased sister chromatid exchange 2 [RCV001838917]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 [RCV001838918]|not provided [RCV004710389] Chr17:18280697 [GRCh38]
Chr17:18184011 [GRCh37]
Chr17:17p11.2		 benign
NM_004618.5(TOP3A):c.1282-21G>A single nucleotide variant Microcephaly, growth restriction, and increased sister chromatid exchange 2 [RCV001838923]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 [RCV001838924]|not provided [RCV004710390] Chr17:18291048 [GRCh38]
Chr17:18194362 [GRCh37]
Chr17:17p11.2		 benign
NM_004618.5(TOP3A):c.916-49G>A single nucleotide variant Microcephaly, growth restriction, and increased sister chromatid exchange 2 [RCV001838925]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 [RCV001838926]|not provided [RCV004710391] Chr17:18299682 [GRCh38]
Chr17:18202996 [GRCh37]
Chr17:17p11.2		 benign
NM_004618.5(TOP3A):c.1527C>T (p.Asp509=) single nucleotide variant Microcephaly, growth restriction, and increased sister chromatid exchange 2 [RCV001838919]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 [RCV001838920]|not provided [RCV002077324] Chr17:18290627 [GRCh38]
Chr17:18193941 [GRCh37]
Chr17:17p11.2		 benign
NC_000017.10:g.(?_16842861)_(18218092_?)dup duplication Birt-Hogg-Dube syndrome [RCV003120781]|not provided [RCV001949508] Chr17:16842861..18218092 [GRCh37]
Chr17:17p11.2		 pathogenic|uncertain significance|no classifications from unflagged records
NM_004618.5(TOP3A):c.1888G>A (p.Ala630Thr) single nucleotide variant not provided [RCV002004359] Chr17:18282831 [GRCh38]
Chr17:18186145 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.180+10C>T single nucleotide variant not provided [RCV002022042] Chr17:18314589 [GRCh38]
Chr17:18217903 [GRCh37]
Chr17:17p11.2		 likely benign|uncertain significance
NM_004618.5(TOP3A):c.1916C>T (p.Thr639Ile) single nucleotide variant not provided [RCV001986259] Chr17:18282803 [GRCh38]
Chr17:18186117 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2038A>G (p.Met680Val) single nucleotide variant not provided [RCV001984067] Chr17:18280642 [GRCh38]
Chr17:18183956 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1468-11G>T single nucleotide variant Microcephaly, growth restriction, and increased sister chromatid exchange 2 [RCV001838921]|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 [RCV001838922]|not provided [RCV002074390] Chr17:18290697 [GRCh38]
Chr17:18194011 [GRCh37]
Chr17:17p11.2		 benign
NM_004618.5(TOP3A):c.308G>A (p.Arg103Gln) single nucleotide variant not provided [RCV001946252] Chr17:18308357 [GRCh38]
Chr17:18211671 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1153C>T (p.Pro385Ser) single nucleotide variant not provided [RCV001905759] Chr17:18292773 [GRCh38]
Chr17:18196087 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2215G>A (p.Gly739Arg) single nucleotide variant not provided [RCV002037492] Chr17:18278287 [GRCh38]
Chr17:18181601 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1259C>T (p.Thr420Ile) single nucleotide variant not provided [RCV002015632] Chr17:18292667 [GRCh38]
Chr17:18195981 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2821G>A (p.Ala941Thr) single nucleotide variant Inborn genetic diseases [RCV003355789]|not provided [RCV002027930] Chr17:18277681 [GRCh38]
Chr17:18180995 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1022G>A (p.Arg341Lys) single nucleotide variant Inborn genetic diseases [RCV002625365]|not provided [RCV001989555] Chr17:18294754 [GRCh38]
Chr17:18198068 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.556G>A (p.Val186Ile) single nucleotide variant not provided [RCV001905577] Chr17:18302667 [GRCh38]
Chr17:18205981 [GRCh37]
Chr17:17p11.2		 uncertain significance
GRCh37/hg19 17p11.2(chr17:16664739-20217378)x1 copy number loss not provided [RCV002211424] Chr17:16664739..20217378 [GRCh37]
Chr17:17p11.2		 pathogenic
NM_004618.5(TOP3A):c.2853A>G (p.Thr951=) single nucleotide variant not provided [RCV002146500] Chr17:18274955 [GRCh38]
Chr17:18178269 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1375G>A (p.Asp459Asn) single nucleotide variant not provided [RCV002129596] Chr17:18290934 [GRCh38]
Chr17:18194248 [GRCh37]
Chr17:17p11.2		 benign
NM_004618.5(TOP3A):c.2006C>T (p.Thr669Ile) single nucleotide variant Inborn genetic diseases [RCV004045541]|not provided [RCV002187443] Chr17:18282713 [GRCh38]
Chr17:18186027 [GRCh37]
Chr17:17p11.2		 benign|uncertain significance
NM_004618.5(TOP3A):c.2224G>A (p.Asp742Asn) single nucleotide variant not provided [RCV002169203] Chr17:18278278 [GRCh38]
Chr17:18181592 [GRCh37]
Chr17:17p11.2		 benign
NM_004618.5(TOP3A):c.11C>T (p.Pro4Leu) single nucleotide variant TOP3A-related disorder [RCV004553669]|not provided [RCV002197432] Chr17:18314768 [GRCh38]
Chr17:18218082 [GRCh37]
Chr17:17p11.2		 benign
NM_004618.5(TOP3A):c.1213C>T (p.Arg405Cys) single nucleotide variant TOP3A-related disorder [RCV004553752]|not provided [RCV002116034] Chr17:18292713 [GRCh38]
Chr17:18196027 [GRCh37]
Chr17:17p11.2		 benign
NM_004618.5(TOP3A):c.2021+9G>T single nucleotide variant not provided [RCV002106703] Chr17:18282689 [GRCh38]
Chr17:18186003 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1431T>C (p.Tyr477=) single nucleotide variant TOP3A-related disorder [RCV004553754]|not provided [RCV002116092] Chr17:18290878 [GRCh38]
Chr17:18194192 [GRCh37]
Chr17:17p11.2		 benign|likely benign
NM_004618.5(TOP3A):c.840C>G (p.Ile280Met) single nucleotide variant not provided [RCV002080992] Chr17:18301960 [GRCh38]
Chr17:18205274 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2442C>T (p.Asn814=) single nucleotide variant not provided [RCV002195320] Chr17:18278060 [GRCh38]
Chr17:18181374 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.180+10C>G single nucleotide variant Microcephaly, growth restriction, and increased sister chromatid exchange 2 [RCV002494142]|TOP3A-related disorder [RCV004553691]|not provided [RCV002215829] Chr17:18314589 [GRCh38]
Chr17:18217903 [GRCh37]
Chr17:17p11.2		 benign|likely benign
NM_004618.5(TOP3A):c.644-12_644-3del microsatellite not provided [RCV002132089] Chr17:18302437..18302446 [GRCh38]
Chr17:18205751..18205760 [GRCh37]
Chr17:17p11.2		 benign
NM_004618.5(TOP3A):c.315-6_315-5del deletion TOP3A-related disorder [RCV004553802]|not provided [RCV002114629] Chr17:18306971..18306972 [GRCh38]
Chr17:18210285..18210286 [GRCh37]
Chr17:17p11.2		 benign
NM_004618.5(TOP3A):c.1711+6G>A single nucleotide variant not provided [RCV002095609] Chr17:18285401 [GRCh38]
Chr17:18188715 [GRCh37]
Chr17:17p11.2		 benign
NM_004618.5(TOP3A):c.315-11T>G single nucleotide variant not provided [RCV002114190] Chr17:18306977 [GRCh38]
Chr17:18210291 [GRCh37]
Chr17:17p11.2		 benign
GRCh37/hg19 17p11.2(chr17:17579860-18469185) copy number gain Potocki-Lupski syndrome [RCV002280640] Chr17:17579860..18469185 [GRCh37]
Chr17:17p11.2		 pathogenic
NM_004618.5(TOP3A):c.1578C>G (p.Leu526=) single nucleotide variant not provided [RCV002182038] Chr17:18290576 [GRCh38]
Chr17:18193890 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.888C>T (p.Cys296=) single nucleotide variant not provided [RCV002219360] Chr17:18301912 [GRCh38]
Chr17:18205226 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.135G>A (p.Ala45=) single nucleotide variant not provided [RCV002082235] Chr17:18314644 [GRCh38]
Chr17:18217958 [GRCh37]
Chr17:17p11.2		 benign
NM_004618.5(TOP3A):c.1885G>A (p.Glu629Lys) single nucleotide variant TOP3A-related disorder [RCV004553759]|not provided [RCV002136865] Chr17:18282834 [GRCh38]
Chr17:18186148 [GRCh37]
Chr17:17p11.2		 benign|likely benign
NM_004618.5(TOP3A):c.1557C>T (p.Thr519=) single nucleotide variant TOP3A-related disorder [RCV004548232]|not provided [RCV002201110] Chr17:18290597 [GRCh38]
Chr17:18193911 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2270C>T (p.Pro757Leu) single nucleotide variant Inborn genetic diseases [RCV003070592]|TOP3A-related disorder [RCV004553800]|not provided [RCV002121264]|not specified [RCV002246685] Chr17:18278232 [GRCh38]
Chr17:18181546 [GRCh37]
Chr17:17p11.2		 likely benign|uncertain significance
NM_004618.5(TOP3A):c.1614T>C (p.His538=) single nucleotide variant TOP3A-related disorder [RCV004553676]|not provided [RCV002204861] Chr17:18285504 [GRCh38]
Chr17:18188818 [GRCh37]
Chr17:17p11.2		 benign|likely benign
NM_004618.5(TOP3A):c.2031C>T (p.Leu677=) single nucleotide variant TOP3A-related disorder [RCV004553765]|not provided [RCV002142359] Chr17:18280649 [GRCh38]
Chr17:18183963 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2640C>T (p.His880=) single nucleotide variant TOP3A-related disorder [RCV004553766]|not provided [RCV002139346] Chr17:18277862 [GRCh38]
Chr17:18181176 [GRCh37]
Chr17:17p11.2		 benign
NM_004618.5(TOP3A):c.500-16A>T single nucleotide variant not provided [RCV002162241] Chr17:18302739 [GRCh38]
Chr17:18206053 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2808C>T (p.Val936=) single nucleotide variant not provided [RCV002200264] Chr17:18277694 [GRCh38]
Chr17:18181008 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.916-8C>T single nucleotide variant not provided [RCV002098547] Chr17:18299641 [GRCh38]
Chr17:18202955 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.529C>T (p.Arg177Ter) single nucleotide variant Microcephaly, growth restriction, and increased sister chromatid exchange 2 [RCV004594678]|not provided [RCV003110819] Chr17:18302694 [GRCh38]
Chr17:18206008 [GRCh37]
Chr17:17p11.2		 pathogenic
NM_004618.5(TOP3A):c.555C>T (p.Ala185=) single nucleotide variant TOP3A-related disorder [RCV004554039]|not provided [RCV003114132] Chr17:18302668 [GRCh38]
Chr17:18205982 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1196G>A (p.Arg399Gln) single nucleotide variant not provided [RCV003115323] Chr17:18292730 [GRCh38]
Chr17:18196044 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1380C>T (p.Ile460=) single nucleotide variant not provided [RCV003114728] Chr17:18290929 [GRCh38]
Chr17:18194243 [GRCh37]
Chr17:17p11.2		 likely benign
NC_000017.10:g.(?_18178116)_(18178314_?)del deletion not provided [RCV003113555] Chr17:18178116..18178314 [GRCh37]
Chr17:17p11.2		 uncertain significance
NC_000017.10:g.(?_18217893)_(18218092_?)dup duplication not provided [RCV003113556] Chr17:18217893..18218092 [GRCh37]
Chr17:17p11.2		 uncertain significance
NC_000017.10:g.(?_16842861)_(19578885_?)dup duplication Familial aplasia of the vermis [RCV003116613]|Immunodeficiency, common variable, 2 [RCV003116614] Chr17:16842861..19578885 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2492G>A (p.Arg831Gln) single nucleotide variant Inborn genetic diseases [RCV004245916]|not provided [RCV003113006] Chr17:18278010 [GRCh38]
Chr17:18181324 [GRCh37]
Chr17:17p11.2		 likely benign|uncertain significance
NM_004618.5(TOP3A):c.509A>G (p.Asn170Ser) single nucleotide variant Inborn genetic diseases [RCV003276482] Chr17:18302714 [GRCh38]
Chr17:18206028 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2779G>T (p.Glu927Ter) single nucleotide variant Microcephaly, growth restriction, and increased sister chromatid exchange 2 [RCV002273109] Chr17:18277723 [GRCh38]
Chr17:18181037 [GRCh37]
Chr17:17p11.2		 uncertain significance
Single allele complex PMP22-RAI1 contiguous gene duplication syndrome [RCV002280690] Chr17:14876984..22124952 [GRCh37]
Chr17:17p12-11.2		 pathogenic
NM_004618.5(TOP3A):c.2946G>A (p.Arg982=) single nucleotide variant not provided [RCV002263083] Chr17:18274862 [GRCh38]
Chr17:18178176 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.48C>G (p.Pro16=) single nucleotide variant not provided [RCV002263085] Chr17:18314731 [GRCh38]
Chr17:18218045 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1280A>G (p.Gln427Arg) single nucleotide variant not provided [RCV002286885] Chr17:18292646 [GRCh38]
Chr17:18195960 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.990+1G>T single nucleotide variant not provided [RCV002286252] Chr17:18299558 [GRCh38]
Chr17:18202872 [GRCh37]
Chr17:17p11.2		 likely pathogenic
NM_004618.5(TOP3A):c.991-1G>A single nucleotide variant not provided [RCV002263084] Chr17:18294786 [GRCh38]
Chr17:18198100 [GRCh37]
Chr17:17p11.2		 likely pathogenic
GRCh37/hg19 17p11.2(chr17:16736709-20339460)x3 copy number gain See cases [RCV002292216] Chr17:16736709..20339460 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1712G>T (p.Gly571Val) single nucleotide variant Microcephaly, growth restriction, and increased sister chromatid exchange 2 [RCV003148362] Chr17:18285307 [GRCh38]
Chr17:18188621 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.181-20dup duplication not provided [RCV002771206] Chr17:18308960..18308961 [GRCh38]
Chr17:18212274..18212275 [GRCh37]
Chr17:17p11.2		 benign
GRCh37/hg19 17p11.2(chr17:17103571-19331028)x3 copy number gain not provided [RCV002474502] Chr17:17103571..19331028 [GRCh37]
Chr17:17p11.2		 pathogenic
NM_004618.5(TOP3A):c.149C>T (p.Ala50Val) single nucleotide variant Inborn genetic diseases [RCV002751689] Chr17:18314630 [GRCh38]
Chr17:18217944 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1434G>A (p.Leu478=) single nucleotide variant not provided [RCV002511863] Chr17:18290875 [GRCh38]
Chr17:18194189 [GRCh37]
Chr17:17p11.2		 benign|likely benign
NM_004618.5(TOP3A):c.2531A>G (p.Asn844Ser) single nucleotide variant Inborn genetic diseases [RCV003274226]|not provided [RCV003073557] Chr17:18277971 [GRCh38]
Chr17:18181285 [GRCh37]
Chr17:17p11.2		 likely benign|uncertain significance
NM_004618.5(TOP3A):c.186A>G (p.Glu62=) single nucleotide variant not provided [RCV002617037] Chr17:18308936 [GRCh38]
Chr17:18212250 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2710G>A (p.Val904Ile) single nucleotide variant Inborn genetic diseases [RCV002686633] Chr17:18277792 [GRCh38]
Chr17:18181106 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2903G>A (p.Arg968Gln) single nucleotide variant not provided [RCV002993625] Chr17:18274905 [GRCh38]
Chr17:18178219 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1334G>C (p.Cys445Ser) single nucleotide variant Inborn genetic diseases [RCV002864517] Chr17:18290975 [GRCh38]
Chr17:18194289 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2550C>T (p.Asp850=) single nucleotide variant not provided [RCV002995220] Chr17:18277952 [GRCh38]
Chr17:18181266 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.466A>G (p.Ile156Val) single nucleotide variant Inborn genetic diseases [RCV002734344] Chr17:18305145 [GRCh38]
Chr17:18208459 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1103A>G (p.Asn368Ser) single nucleotide variant not provided [RCV002462420] Chr17:18292823 [GRCh38]
Chr17:18196137 [GRCh37]
Chr17:17p11.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_004618.5(TOP3A):c.2408C>T (p.Thr803Met) single nucleotide variant Inborn genetic diseases [RCV002995982]|not provided [RCV003007270] Chr17:18278094 [GRCh38]
Chr17:18181408 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.413G>A (p.Arg138His) single nucleotide variant Inborn genetic diseases [RCV002969935] Chr17:18305198 [GRCh38]
Chr17:18208512 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.350A>G (p.Glu117Gly) single nucleotide variant Inborn genetic diseases [RCV002779481] Chr17:18306931 [GRCh38]
Chr17:18210245 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2558A>G (p.Asn853Ser) single nucleotide variant not provided [RCV002975497] Chr17:18277944 [GRCh38]
Chr17:18181258 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2474G>A (p.Arg825His) single nucleotide variant not provided [RCV003076936] Chr17:18278028 [GRCh38]
Chr17:18181342 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1297C>T (p.Leu433=) single nucleotide variant not provided [RCV002967455] Chr17:18291012 [GRCh38]
Chr17:18194326 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2748G>T (p.Gly916=) single nucleotide variant not provided [RCV002617303] Chr17:18277754 [GRCh38]
Chr17:18181068 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.339C>G (p.Leu113=) single nucleotide variant not provided [RCV002975051] Chr17:18306942 [GRCh38]
Chr17:18210256 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1973G>A (p.Cys658Tyr) single nucleotide variant not provided [RCV002613631] Chr17:18282746 [GRCh38]
Chr17:18186060 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.814+13G>A single nucleotide variant not provided [RCV002617293] Chr17:18302251 [GRCh38]
Chr17:18205565 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.820C>G (p.His274Asp) single nucleotide variant not provided [RCV003033949] Chr17:18301980 [GRCh38]
Chr17:18205294 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.990+16G>C single nucleotide variant not provided [RCV002881001] Chr17:18299543 [GRCh38]
Chr17:18202857 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2461C>G (p.Leu821Val) single nucleotide variant not provided [RCV002838385] Chr17:18278041 [GRCh38]
Chr17:18181355 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.314+1G>A single nucleotide variant not provided [RCV002731230] Chr17:18308350 [GRCh38]
Chr17:18211664 [GRCh37]
Chr17:17p11.2		 likely pathogenic
NM_004618.5(TOP3A):c.1925C>T (p.Ala642Val) single nucleotide variant Inborn genetic diseases [RCV003269240]|not provided [RCV002681225] Chr17:18282794 [GRCh38]
Chr17:18186108 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2775G>A (p.Pro925=) single nucleotide variant not provided [RCV002794774] Chr17:18277727 [GRCh38]
Chr17:18181041 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2286C>T (p.Pro762=) single nucleotide variant not provided [RCV002776023] Chr17:18278216 [GRCh38]
Chr17:18181530 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1884C>T (p.Asp628=) single nucleotide variant not provided [RCV002947275] Chr17:18282835 [GRCh38]
Chr17:18186149 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1950C>T (p.Ala650=) single nucleotide variant not provided [RCV002750745] Chr17:18282769 [GRCh38]
Chr17:18186083 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2518G>A (p.Gly840Arg) single nucleotide variant not provided [RCV002994579] Chr17:18277984 [GRCh38]
Chr17:18181298 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2827+14G>A single nucleotide variant not provided [RCV002571897] Chr17:18277661 [GRCh38]
Chr17:18180975 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1481A>G (p.Tyr494Cys) single nucleotide variant not provided [RCV002620019] Chr17:18290673 [GRCh38]
Chr17:18193987 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1497dup (p.Phe500fs) duplication not provided [RCV002695388] Chr17:18290656..18290657 [GRCh38]
Chr17:18193970..18193971 [GRCh37]
Chr17:17p11.2		 pathogenic
NM_004618.5(TOP3A):c.1768G>A (p.Ala590Thr) single nucleotide variant not provided [RCV003035471] Chr17:18285251 [GRCh38]
Chr17:18188565 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1012C>T (p.Arg338Ter) single nucleotide variant Inborn genetic diseases [RCV003358038]|not provided [RCV002976551] Chr17:18294764 [GRCh38]
Chr17:18198078 [GRCh37]
Chr17:17p11.2		 pathogenic
NM_004618.5(TOP3A):c.2264G>A (p.Gly755Asp) single nucleotide variant not provided [RCV002659410] Chr17:18278238 [GRCh38]
Chr17:18181552 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2597C>T (p.Pro866Leu) single nucleotide variant Inborn genetic diseases [RCV003269493]|not provided [RCV002636592] Chr17:18277905 [GRCh38]
Chr17:18181219 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2980dup (p.Arg994fs) duplication not provided [RCV002847477] Chr17:18274827..18274828 [GRCh38]
Chr17:18178141..18178142 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2245G>C (p.Asp749His) single nucleotide variant not provided [RCV002999462] Chr17:18278257 [GRCh38]
Chr17:18181571 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.560G>A (p.Arg187Lys) single nucleotide variant Inborn genetic diseases [RCV002821787] Chr17:18302663 [GRCh38]
Chr17:18205977 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2180C>T (p.Pro727Leu) single nucleotide variant not provided [RCV002976531] Chr17:18278322 [GRCh38]
Chr17:18181636 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.23A>G (p.Tyr8Cys) single nucleotide variant not provided [RCV002824843] Chr17:18314756 [GRCh38]
Chr17:18218070 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.583G>A (p.Glu195Lys) single nucleotide variant not provided [RCV003020797] Chr17:18302640 [GRCh38]
Chr17:18205954 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1468-11G>A single nucleotide variant not provided [RCV002781378] Chr17:18290697 [GRCh38]
Chr17:18194011 [GRCh37]
Chr17:17p11.2		 benign
NM_004618.5(TOP3A):c.882G>A (p.Thr294=) single nucleotide variant not provided [RCV002736072] Chr17:18301918 [GRCh38]
Chr17:18205232 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.644-13C>T single nucleotide variant not provided [RCV002659453] Chr17:18302447 [GRCh38]
Chr17:18205761 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.499+20C>T single nucleotide variant not provided [RCV002591006] Chr17:18305092 [GRCh38]
Chr17:18208406 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.930T>C (p.Thr310=) single nucleotide variant not provided [RCV002847298] Chr17:18299619 [GRCh38]
Chr17:18202933 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.315-9del deletion not provided [RCV002619694] Chr17:18306975 [GRCh38]
Chr17:18210289 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2166C>T (p.Arg722=) single nucleotide variant TOP3A-related disorder [RCV004550340]|not provided [RCV002999294] Chr17:18278336 [GRCh38]
Chr17:18181650 [GRCh37]
Chr17:17p11.2		 benign|likely benign
NM_004618.5(TOP3A):c.1155C>T (p.Pro385=) single nucleotide variant not provided [RCV002923699] Chr17:18292771 [GRCh38]
Chr17:18196085 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2133C>A (p.His711Gln) single nucleotide variant not provided [RCV002846878] Chr17:18280547 [GRCh38]
Chr17:18183861 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1331G>C (p.Cys444Ser) single nucleotide variant Inborn genetic diseases [RCV002799864] Chr17:18290978 [GRCh38]
Chr17:18194292 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1759G>C (p.Glu587Gln) single nucleotide variant not provided [RCV002976012] Chr17:18285260 [GRCh38]
Chr17:18188574 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2016T>C (p.Asn672=) single nucleotide variant not provided [RCV002636693] Chr17:18282703 [GRCh38]
Chr17:18186017 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2962C>T (p.His988Tyr) single nucleotide variant not provided [RCV002695789] Chr17:18274846 [GRCh38]
Chr17:18178160 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1590T>C (p.His530=) single nucleotide variant not provided [RCV003021560] Chr17:18290564 [GRCh38]
Chr17:18193878 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.404G>A (p.Arg135Gln) single nucleotide variant not provided [RCV002619584] Chr17:18305207 [GRCh38]
Chr17:18208521 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.909T>C (p.Cys303=) single nucleotide variant not provided [RCV002795195] Chr17:18301891 [GRCh38]
Chr17:18205205 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2489A>G (p.Asn830Ser) single nucleotide variant not provided [RCV002639650] Chr17:18278013 [GRCh38]
Chr17:18181327 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.72C>T (p.Ala24=) single nucleotide variant not provided [RCV002781062] Chr17:18314707 [GRCh38]
Chr17:18218021 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2426A>G (p.Asn809Ser) single nucleotide variant Inborn genetic diseases [RCV002854205] Chr17:18278076 [GRCh38]
Chr17:18181390 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1195C>T (p.Arg399Trp) single nucleotide variant not provided [RCV002928351] Chr17:18292731 [GRCh38]
Chr17:18196045 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2974C>T (p.His992Tyr) single nucleotide variant not provided [RCV003059682] Chr17:18274834 [GRCh38]
Chr17:18178148 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1563C>T (p.Ala521=) single nucleotide variant not provided [RCV002596987] Chr17:18290591 [GRCh38]
Chr17:18193905 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1750C>T (p.Leu584Phe) single nucleotide variant not provided [RCV002642888] Chr17:18285269 [GRCh38]
Chr17:18188583 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.67C>T (p.Arg23Cys) single nucleotide variant not provided [RCV003006327] Chr17:18314712 [GRCh38]
Chr17:18218026 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1864G>A (p.Ala622Thr) single nucleotide variant not provided [RCV002786553] Chr17:18285155 [GRCh38]
Chr17:18188469 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.60C>T (p.Ala20=) single nucleotide variant not provided [RCV002741774] Chr17:18314719 [GRCh38]
Chr17:18218033 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.468C>T (p.Ile156=) single nucleotide variant not provided [RCV002623453] Chr17:18305143 [GRCh38]
Chr17:18208457 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.134C>T (p.Ala45Val) single nucleotide variant Inborn genetic diseases [RCV004676141]|TOP3A-related disorder [RCV004550398]|not provided [RCV003082186] Chr17:18314645 [GRCh38]
Chr17:18217959 [GRCh37]
Chr17:17p11.2		 likely benign|uncertain significance
NM_004618.5(TOP3A):c.28C>T (p.Leu10Phe) single nucleotide variant not provided [RCV003005321] Chr17:18314751 [GRCh38]
Chr17:18218065 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1878-13G>C single nucleotide variant not provided [RCV002852061] Chr17:18282854 [GRCh38]
Chr17:18186168 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.112T>C (p.Cys38Arg) single nucleotide variant not provided [RCV002711313] Chr17:18314667 [GRCh38]
Chr17:18217981 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2214C>T (p.Gly738=) single nucleotide variant not provided [RCV002800859] Chr17:18278288 [GRCh38]
Chr17:18181602 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.240+13A>G single nucleotide variant not provided [RCV002851829] Chr17:18308869 [GRCh38]
Chr17:18212183 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1811T>C (p.Val604Ala) single nucleotide variant Inborn genetic diseases [RCV002701573] Chr17:18285208 [GRCh38]
Chr17:18188522 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1157A>C (p.Asp386Ala) single nucleotide variant not provided [RCV003008047] Chr17:18292769 [GRCh38]
Chr17:18196083 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1712-16G>A single nucleotide variant not provided [RCV002786513] Chr17:18285323 [GRCh38]
Chr17:18188637 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.702G>A (p.Leu234=) single nucleotide variant TOP3A-related disorder [RCV004548431]|not provided [RCV002958729] Chr17:18302376 [GRCh38]
Chr17:18205690 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2435C>T (p.Thr812Ile) single nucleotide variant TOP3A-related disorder [RCV004548435]|not provided [RCV002954252] Chr17:18278067 [GRCh38]
Chr17:18181381 [GRCh37]
Chr17:17p11.2		 likely benign|conflicting interpretations of pathogenicity
NM_004618.5(TOP3A):c.2386G>C (p.Ala796Pro) single nucleotide variant not provided [RCV002594589] Chr17:18278116 [GRCh38]
Chr17:18181430 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.10C>T (p.Pro4Ser) single nucleotide variant Inborn genetic diseases [RCV002930320] Chr17:18314769 [GRCh38]
Chr17:18218083 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.814G>C (p.Val272Leu) single nucleotide variant not provided [RCV002575099] Chr17:18302264 [GRCh38]
Chr17:18205578 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.643+20T>G single nucleotide variant not provided [RCV003007224] Chr17:18302560 [GRCh38]
Chr17:18205874 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1282-3del deletion not provided [RCV003059534] Chr17:18291030 [GRCh38]
Chr17:18194344 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2774C>T (p.Pro925Leu) single nucleotide variant Inborn genetic diseases [RCV002593913]|not provided [RCV002593912] Chr17:18277728 [GRCh38]
Chr17:18181042 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2148AAAGTT[1] (p.716LK[1]) microsatellite not provided [RCV002576007] Chr17:18278343..18278348 [GRCh38]
Chr17:18181657..18181662 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2124T>C (p.Cys708=) single nucleotide variant not provided [RCV003082875] Chr17:18280556 [GRCh38]
Chr17:18183870 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.644-9A>G single nucleotide variant not provided [RCV002710157] Chr17:18302443 [GRCh38]
Chr17:18205757 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.272G>A (p.Gly91Glu) single nucleotide variant not provided [RCV003057128] Chr17:18308393 [GRCh38]
Chr17:18211707 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.431T>C (p.Val144Ala) single nucleotide variant not provided [RCV002625634] Chr17:18305180 [GRCh38]
Chr17:18208494 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.482T>C (p.Ile161Thr) single nucleotide variant not provided [RCV003040492] Chr17:18305129 [GRCh38]
Chr17:18208443 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1578C>T (p.Leu526=) single nucleotide variant not provided [RCV002828363] Chr17:18290576 [GRCh38]
Chr17:18193890 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1468-12C>T single nucleotide variant not provided [RCV002786374] Chr17:18290698 [GRCh38]
Chr17:18194012 [GRCh37]
Chr17:17p11.2		 benign
NM_004618.5(TOP3A):c.2165G>A (p.Arg722His) single nucleotide variant Inborn genetic diseases [RCV002624114]|not provided [RCV002624115] Chr17:18278337 [GRCh38]
Chr17:18181651 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1467+18C>T single nucleotide variant not provided [RCV002790913] Chr17:18290824 [GRCh38]
Chr17:18194138 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2592T>C (p.Tyr864=) single nucleotide variant not provided [RCV002595738] Chr17:18277910 [GRCh38]
Chr17:18181224 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2296C>T (p.Leu766=) single nucleotide variant not provided [RCV003025317] Chr17:18278206 [GRCh38]
Chr17:18181520 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1422C>T (p.Ala474=) single nucleotide variant not provided [RCV002825664] Chr17:18290887 [GRCh38]
Chr17:18194201 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2820C>A (p.Thr940=) single nucleotide variant not provided [RCV002928252] Chr17:18277682 [GRCh38]
Chr17:18180996 [GRCh37]
Chr17:17p11.2		 benign
NM_004618.5(TOP3A):c.1733A>C (p.Glu578Ala) single nucleotide variant Inborn genetic diseases [RCV002786780]|not provided [RCV002786781] Chr17:18285286 [GRCh38]
Chr17:18188600 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.723C>T (p.Tyr241=) single nucleotide variant not provided [RCV002630065] Chr17:18302355 [GRCh38]
Chr17:18205669 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2149A>C (p.Lys717Gln) single nucleotide variant not provided [RCV002651359] Chr17:18278353 [GRCh38]
Chr17:18181667 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1592G>C (p.Gly531Ala) single nucleotide variant not provided [RCV002676285] Chr17:18290562 [GRCh38]
Chr17:18193876 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.113G>C (p.Cys38Ser) single nucleotide variant not provided [RCV002900170] Chr17:18314666 [GRCh38]
Chr17:18217980 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1962C>T (p.Pro654=) single nucleotide variant not provided [RCV002962384] Chr17:18282757 [GRCh38]
Chr17:18186071 [GRCh37]
Chr17:17p11.2		 benign
NM_004618.5(TOP3A):c.2604C>T (p.Gly868=) single nucleotide variant not provided [RCV002938963] Chr17:18277898 [GRCh38]
Chr17:18181212 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.314+8C>T single nucleotide variant not provided [RCV003008446] Chr17:18308343 [GRCh38]
Chr17:18211657 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1260C>A (p.Thr420=) single nucleotide variant not provided [RCV002602452] Chr17:18292666 [GRCh38]
Chr17:18195980 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2611C>G (p.Leu871Val) single nucleotide variant Inborn genetic diseases [RCV002988088] Chr17:18277891 [GRCh38]
Chr17:18181205 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.735G>T (p.Gln245His) single nucleotide variant not provided [RCV003009518] Chr17:18302343 [GRCh38]
Chr17:18205657 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2742C>G (p.Asn914Lys) single nucleotide variant not provided [RCV002899722] Chr17:18277760 [GRCh38]
Chr17:18181074 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2625A>T (p.Pro875=) single nucleotide variant not provided [RCV002576681] Chr17:18277877 [GRCh38]
Chr17:18181191 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2490C>T (p.Asn830=) single nucleotide variant not provided [RCV002578171] Chr17:18278012 [GRCh38]
Chr17:18181326 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.882G>C (p.Thr294=) single nucleotide variant not provided [RCV003086434] Chr17:18301918 [GRCh38]
Chr17:18205232 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2709C>T (p.Ser903=) single nucleotide variant not provided [RCV002628270] Chr17:18277793 [GRCh38]
Chr17:18181107 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1605T>C (p.Asp535=) single nucleotide variant TOP3A-related disorder [RCV004548413]|not provided [RCV002922542] Chr17:18285513 [GRCh38]
Chr17:18188827 [GRCh37]
Chr17:17p11.2		 benign|likely benign
NM_004618.5(TOP3A):c.2879C>T (p.Ser960Leu) single nucleotide variant Inborn genetic diseases [RCV003170583]|not provided [RCV002937905] Chr17:18274929 [GRCh38]
Chr17:18178243 [GRCh37]
Chr17:17p11.2		 likely benign|uncertain significance
NM_004618.5(TOP3A):c.69C>T (p.Arg23=) single nucleotide variant not provided [RCV003087675] Chr17:18314710 [GRCh38]
Chr17:18218024 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.836G>T (p.Gly279Val) single nucleotide variant Inborn genetic diseases [RCV004069001]|not provided [RCV002627805] Chr17:18301964 [GRCh38]
Chr17:18205278 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2314C>G (p.Leu772Val) single nucleotide variant not provided [RCV002937906] Chr17:18278188 [GRCh38]
Chr17:18181502 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.486C>T (p.His162=) single nucleotide variant not provided [RCV002577864] Chr17:18305125 [GRCh38]
Chr17:18208439 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1315C>T (p.Arg439Cys) single nucleotide variant not provided [RCV002672250] Chr17:18290994 [GRCh38]
Chr17:18194308 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1961C>T (p.Pro654Leu) single nucleotide variant not provided [RCV002834831] Chr17:18282758 [GRCh38]
Chr17:18186072 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.185_187del (p.Glu62del) deletion not provided [RCV003043736] Chr17:18308935..18308937 [GRCh38]
Chr17:18212249..18212251 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.675G>A (p.Arg225=) single nucleotide variant not provided [RCV002745985] Chr17:18302403 [GRCh38]
Chr17:18205717 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.644-19A>G single nucleotide variant not provided [RCV002597700] Chr17:18302453 [GRCh38]
Chr17:18205767 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1162C>T (p.Arg388Cys) single nucleotide variant not provided [RCV003086125] Chr17:18292764 [GRCh38]
Chr17:18196078 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2021+9G>A single nucleotide variant not provided [RCV002598000] Chr17:18282689 [GRCh38]
Chr17:18186003 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.243T>C (p.Asn81=) single nucleotide variant not provided [RCV003089659] Chr17:18308422 [GRCh38]
Chr17:18211736 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.643+12G>C single nucleotide variant not provided [RCV002791669] Chr17:18302568 [GRCh38]
Chr17:18205882 [GRCh37]
Chr17:17p11.2		 likely benign|uncertain significance
NM_004618.5(TOP3A):c.916-8C>G single nucleotide variant not provided [RCV002770069] Chr17:18299641 [GRCh38]
Chr17:18202955 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1837T>C (p.Tyr613His) single nucleotide variant not provided [RCV002578990] Chr17:18285182 [GRCh38]
Chr17:18188496 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.915+13A>G single nucleotide variant not provided [RCV002630135] Chr17:18301872 [GRCh38]
Chr17:18205186 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2264G>C (p.Gly755Ala) single nucleotide variant not provided [RCV003089450] Chr17:18278238 [GRCh38]
Chr17:18181552 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.68G>T (p.Arg23Leu) single nucleotide variant not provided [RCV002922703] Chr17:18314711 [GRCh38]
Chr17:18218025 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1351G>A (p.Gly451Arg) single nucleotide variant Inborn genetic diseases [RCV002832705] Chr17:18290958 [GRCh38]
Chr17:18194272 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2054_2055del (p.Cys685fs) microsatellite not provided [RCV003049212] Chr17:18280625..18280626 [GRCh38]
Chr17:18183939..18183940 [GRCh37]
Chr17:17p11.2		 pathogenic
NM_004618.5(TOP3A):c.1281+16T>A single nucleotide variant not provided [RCV003046332] Chr17:18292629 [GRCh38]
Chr17:18195943 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.841G>A (p.Val281Ile) single nucleotide variant Inborn genetic diseases [RCV002960808] Chr17:18301959 [GRCh38]
Chr17:18205273 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1008T>C (p.Ala336=) single nucleotide variant TOP3A-related disorder [RCV004548434]|not provided [RCV002966569] Chr17:18294768 [GRCh38]
Chr17:18198082 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2216G>T (p.Gly739Val) single nucleotide variant Inborn genetic diseases [RCV003170651]|not provided [RCV002942713] Chr17:18278286 [GRCh38]
Chr17:18181600 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1130C>T (p.Thr377Met) single nucleotide variant not provided [RCV002582648] Chr17:18292796 [GRCh38]
Chr17:18196110 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.815-2A>G single nucleotide variant not provided [RCV003049992] Chr17:18301987 [GRCh38]
Chr17:18205301 [GRCh37]
Chr17:17p11.2		 likely pathogenic
NM_004618.5(TOP3A):c.2T>G (p.Met1Arg) single nucleotide variant not provided [RCV002721600] Chr17:18314777 [GRCh38]
Chr17:18218091 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.916-12C>T single nucleotide variant not provided [RCV002582554] Chr17:18299645 [GRCh38]
Chr17:18202959 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1626C>T (p.Ile542=) single nucleotide variant not provided [RCV003069438] Chr17:18285492 [GRCh38]
Chr17:18188806 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1468-6C>G single nucleotide variant not provided [RCV002721452] Chr17:18290692 [GRCh38]
Chr17:18194006 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1617G>A (p.Ala539=) single nucleotide variant not provided [RCV002586548] Chr17:18285501 [GRCh38]
Chr17:18188815 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1712-17C>T single nucleotide variant not provided [RCV002583785] Chr17:18285324 [GRCh38]
Chr17:18188638 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.391-19A>T single nucleotide variant not provided [RCV002584533] Chr17:18305239 [GRCh38]
Chr17:18208553 [GRCh37]
Chr17:17p11.2		 likely benign|uncertain significance
NM_004618.5(TOP3A):c.1110T>C (p.Phe370=) single nucleotide variant not provided [RCV002612936] Chr17:18292816 [GRCh38]
Chr17:18196130 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1936G>A (p.Asp646Asn) single nucleotide variant not provided [RCV002613298] Chr17:18282783 [GRCh38]
Chr17:18186097 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.43C>G (p.Arg15Gly) single nucleotide variant not provided [RCV002681008] Chr17:18314736 [GRCh38]
Chr17:18218050 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2293C>T (p.Arg765Cys) single nucleotide variant Inborn genetic diseases [RCV004069121]|not provided [RCV002611674] Chr17:18278209 [GRCh38]
Chr17:18181523 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2276C>T (p.Ala759Val) single nucleotide variant not provided [RCV002654756] Chr17:18278226 [GRCh38]
Chr17:18181540 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1612C>T (p.His538Tyr) single nucleotide variant Inborn genetic diseases [RCV002944751] Chr17:18285506 [GRCh38]
Chr17:18188820 [GRCh37]
Chr17:17p11.2		 uncertain significance
GRCh37/hg19 17p11.2(chr17:17116969-20217378)x1 copy number loss not provided [RCV003222939] Chr17:17116969..20217378 [GRCh37]
Chr17:17p11.2		 pathogenic
NM_004618.5(TOP3A):c.2669G>A (p.Gly890Asp) single nucleotide variant Inborn genetic diseases [RCV003204148]|not provided [RCV004725678] Chr17:18277833 [GRCh38]
Chr17:18181147 [GRCh37]
Chr17:17p11.2		 likely benign|uncertain significance
NM_004618.5(TOP3A):c.1513G>A (p.Val505Met) single nucleotide variant Inborn genetic diseases [RCV003191906] Chr17:18290641 [GRCh38]
Chr17:18193955 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.106G>C (p.Val36Leu) single nucleotide variant Inborn genetic diseases [RCV003212552] Chr17:18314673 [GRCh38]
Chr17:18217987 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2020G>A (p.Gly674Arg) single nucleotide variant Inborn genetic diseases [RCV003176116] Chr17:18282699 [GRCh38]
Chr17:18186013 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1218T>A (p.Asn406Lys) single nucleotide variant Inborn genetic diseases [RCV003219534] Chr17:18292708 [GRCh38]
Chr17:18196022 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1935A>T (p.Glu645Asp) single nucleotide variant Inborn genetic diseases [RCV003220894] Chr17:18282784 [GRCh38]
Chr17:18186098 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1878-550T>C single nucleotide variant not provided [RCV003141097] Chr17:18283391 [GRCh38]
Chr17:18186705 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1078A>C (p.Ile360Leu) single nucleotide variant Inborn genetic diseases [RCV003184652] Chr17:18292848 [GRCh38]
Chr17:18196162 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2498G>A (p.Arg833Gln) single nucleotide variant Inborn genetic diseases [RCV003288077] Chr17:18278004 [GRCh38]
Chr17:18181318 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.505C>T (p.Pro169Ser) single nucleotide variant not provided [RCV003329761] Chr17:18302718 [GRCh38]
Chr17:18206032 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1889C>A (p.Ala630Asp) single nucleotide variant Inborn genetic diseases [RCV003357097] Chr17:18282830 [GRCh38]
Chr17:18186144 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.946T>A (p.Ser316Thr) single nucleotide variant Inborn genetic diseases [RCV003384889] Chr17:18299603 [GRCh38]
Chr17:18202917 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1702C>A (p.Leu568Ile) single nucleotide variant Inborn genetic diseases [RCV003352333] Chr17:18285416 [GRCh38]
Chr17:18188730 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1754G>A (p.Arg585Gln) single nucleotide variant TOP3A-related disorder [RCV004554145] Chr17:18285265 [GRCh38]
Chr17:18188579 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2828-5G>A single nucleotide variant not provided [RCV003569293] Chr17:18274985 [GRCh38]
Chr17:18178299 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.814+7C>A single nucleotide variant not provided [RCV003875145] Chr17:18302257 [GRCh38]
Chr17:18205571 [GRCh37]
Chr17:17p11.2		 likely benign
Single allele duplication not provided [RCV003448668] Chr17:16757513..18772328 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p11.2(chr17:16651293-20450566)x1 copy number loss not provided [RCV003483315] Chr17:16651293..20450566 [GRCh37]
Chr17:17p11.2		 pathogenic
GRCh37/hg19 17p12-11.2(chr17:15694772-20582794)x1 copy number loss not provided [RCV003483314] Chr17:15694772..20582794 [GRCh37]
Chr17:17p12-11.2		 pathogenic
NM_004618.5(TOP3A):c.2887A>G (p.Arg963Gly) single nucleotide variant not provided [RCV003852862] Chr17:18274921 [GRCh38]
Chr17:18178235 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2166C>G (p.Arg722=) single nucleotide variant not provided [RCV003419678] Chr17:18278336 [GRCh38]
Chr17:18181650 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2065G>T (p.Val689Leu) single nucleotide variant not provided [RCV003825670] Chr17:18280615 [GRCh38]
Chr17:18183929 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.525A>C (p.Arg175=) single nucleotide variant not provided [RCV003413167] Chr17:18302698 [GRCh38]
Chr17:18206012 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1032T>A (p.Ala344=) single nucleotide variant not provided [RCV003547218] Chr17:18294744 [GRCh38]
Chr17:18198058 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2472C>T (p.Val824=) single nucleotide variant TOP3A-related disorder [RCV004554322]|not provided [RCV003740232] Chr17:18278030 [GRCh38]
Chr17:18181344 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.459C>A (p.Gly153=) single nucleotide variant not provided [RCV003740309] Chr17:18305152 [GRCh38]
Chr17:18208466 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1365A>G (p.Thr455=) single nucleotide variant not provided [RCV003575551] Chr17:18290944 [GRCh38]
Chr17:18194258 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2880G>A (p.Ser960=) single nucleotide variant not provided [RCV003878579] Chr17:18274928 [GRCh38]
Chr17:18178242 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.45G>T (p.Arg15=) single nucleotide variant not provided [RCV003695088] Chr17:18314734 [GRCh38]
Chr17:18218048 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2339A>G (p.His780Arg) single nucleotide variant not provided [RCV003877402] Chr17:18278163 [GRCh38]
Chr17:18181477 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2754G>A (p.Gln918=) single nucleotide variant not provided [RCV003878843] Chr17:18277748 [GRCh38]
Chr17:18181062 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1878-17C>T single nucleotide variant not provided [RCV003690432] Chr17:18282858 [GRCh38]
Chr17:18186172 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1120_1121del (p.Leu374fs) deletion not provided [RCV003546185] Chr17:18292805..18292806 [GRCh38]
Chr17:18196119..18196120 [GRCh37]
Chr17:17p11.2		 pathogenic
NM_004618.5(TOP3A):c.1890C>G (p.Ala630=) single nucleotide variant not provided [RCV003573646] Chr17:18282829 [GRCh38]
Chr17:18186143 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2022-16G>T single nucleotide variant not provided [RCV003576565] Chr17:18280674 [GRCh38]
Chr17:18183988 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2022-6C>T single nucleotide variant not provided [RCV003545788] Chr17:18280664 [GRCh38]
Chr17:18183978 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2145-12dup duplication not provided [RCV003825015] Chr17:18278368..18278369 [GRCh38]
Chr17:18181682..18181683 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.815-11C>T single nucleotide variant not provided [RCV003827856] Chr17:18301996 [GRCh38]
Chr17:18205310 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2259A>C (p.Ser753=) single nucleotide variant not provided [RCV003712974] Chr17:18278243 [GRCh38]
Chr17:18181557 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2223C>T (p.Asp741=) single nucleotide variant not provided [RCV003852411] Chr17:18278279 [GRCh38]
Chr17:18181593 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2151G>A (p.Lys717=) single nucleotide variant not provided [RCV003852741] Chr17:18278351 [GRCh38]
Chr17:18181665 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2340C>T (p.His780=) single nucleotide variant not provided [RCV003580077] Chr17:18278162 [GRCh38]
Chr17:18181476 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1535C>G (p.Thr512Ser) single nucleotide variant not provided [RCV003699623] Chr17:18290619 [GRCh38]
Chr17:18193933 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2945G>A (p.Arg982Gln) single nucleotide variant not provided [RCV003580090] Chr17:18274863 [GRCh38]
Chr17:18178177 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2055T>C (p.Cys685=) single nucleotide variant not provided [RCV003699134] Chr17:18280625 [GRCh38]
Chr17:18183939 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1711+7G>A single nucleotide variant not provided [RCV003701109] Chr17:18285400 [GRCh38]
Chr17:18188714 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1131G>A (p.Thr377=) single nucleotide variant not provided [RCV003726592] Chr17:18292795 [GRCh38]
Chr17:18196109 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1308T>C (p.Phe436=) single nucleotide variant not provided [RCV003726189] Chr17:18291001 [GRCh38]
Chr17:18194315 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.889C>T (p.Leu297=) single nucleotide variant not provided [RCV003561750] Chr17:18301911 [GRCh38]
Chr17:18205225 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.978C>G (p.Ala326=) single nucleotide variant not provided [RCV003725013] Chr17:18299571 [GRCh38]
Chr17:18202885 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2562G>A (p.Pro854=) single nucleotide variant not provided [RCV003854351] Chr17:18277940 [GRCh38]
Chr17:18181254 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2145-19C>T single nucleotide variant not provided [RCV003832049] Chr17:18278376 [GRCh38]
Chr17:18181690 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.760G>A (p.Glu254Lys) single nucleotide variant not specified [RCV003995092] Chr17:18302318 [GRCh38]
Chr17:18205632 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1282-13C>G single nucleotide variant not provided [RCV003836012] Chr17:18291040 [GRCh38]
Chr17:18194354 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.922dup (p.Met308fs) duplication not provided [RCV003682715] Chr17:18299626..18299627 [GRCh38]
Chr17:18202940..18202941 [GRCh37]
Chr17:17p11.2		 pathogenic
NM_004618.5(TOP3A):c.1294C>T (p.Arg432Ter) single nucleotide variant not provided [RCV003712007] Chr17:18291015 [GRCh38]
Chr17:18194329 [GRCh37]
Chr17:17p11.2		 pathogenic
NM_004618.5(TOP3A):c.2082G>A (p.Ser694=) single nucleotide variant not provided [RCV003845559] Chr17:18280598 [GRCh38]
Chr17:18183912 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2832T>A (p.Thr944=) single nucleotide variant not provided [RCV003683173] Chr17:18274976 [GRCh38]
Chr17:18178290 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.915+15T>C single nucleotide variant not provided [RCV003819843] Chr17:18301870 [GRCh38]
Chr17:18205184 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2745G>A (p.Lys915=) single nucleotide variant not provided [RCV003706615] Chr17:18277757 [GRCh38]
Chr17:18181071 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2477A>G (p.Lys826Arg) single nucleotide variant not provided [RCV003845915] Chr17:18278025 [GRCh38]
Chr17:18181339 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1479C>T (p.Val493=) single nucleotide variant not provided [RCV003678242] Chr17:18290675 [GRCh38]
Chr17:18193989 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2185A>G (p.Met729Val) single nucleotide variant not provided [RCV003733027] Chr17:18278317 [GRCh38]
Chr17:18181631 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2145-8C>T single nucleotide variant not provided [RCV003865604] Chr17:18278365 [GRCh38]
Chr17:18181679 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1564G>A (p.Asp522Asn) single nucleotide variant Inborn genetic diseases [RCV004369535]|not provided [RCV003865999] Chr17:18290590 [GRCh38]
Chr17:18193904 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.477G>A (p.Glu159=) single nucleotide variant not provided [RCV003551426] Chr17:18305134 [GRCh38]
Chr17:18208448 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.391-1G>A single nucleotide variant not provided [RCV003680841] Chr17:18305221 [GRCh38]
Chr17:18208535 [GRCh37]
Chr17:17p11.2		 likely pathogenic
NM_004618.5(TOP3A):c.2022-16G>A single nucleotide variant not provided [RCV003707618] Chr17:18280674 [GRCh38]
Chr17:18183988 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1282-13C>T single nucleotide variant not provided [RCV003818904] Chr17:18291040 [GRCh38]
Chr17:18194354 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2295C>T (p.Arg765=) single nucleotide variant not provided [RCV003737210] Chr17:18278207 [GRCh38]
Chr17:18181521 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1611T>G (p.Thr537=) single nucleotide variant not provided [RCV003822355] Chr17:18285507 [GRCh38]
Chr17:18188821 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1098A>G (p.Glu366=) single nucleotide variant not provided [RCV003737928] Chr17:18292828 [GRCh38]
Chr17:18196142 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1926C>G (p.Ala642=) single nucleotide variant not provided [RCV003821458] Chr17:18282793 [GRCh38]
Chr17:18186107 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2769C>G (p.Ala923=) single nucleotide variant not provided [RCV003680117] Chr17:18277733 [GRCh38]
Chr17:18181047 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.627G>A (p.Glu209=) single nucleotide variant not provided [RCV003719778] Chr17:18302596 [GRCh38]
Chr17:18205910 [GRCh37]
Chr17:17p11.2		 likely benign
GRCh37/hg19 17p12-11.2(chr17:15759103-20564268)x1 copy number loss not specified [RCV003987246] Chr17:15759103..20564268 [GRCh37]
Chr17:17p12-11.2		 pathogenic
NM_004618.5(TOP3A):c.2022-19C>T single nucleotide variant not provided [RCV003718917] Chr17:18280677 [GRCh38]
Chr17:18183991 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2409G>A (p.Thr803=) single nucleotide variant not provided [RCV003555294] Chr17:18278093 [GRCh38]
Chr17:18181407 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1171dup (p.Ala391fs) duplication not provided [RCV003722476] Chr17:18292754..18292755 [GRCh38]
Chr17:18196068..18196069 [GRCh37]
Chr17:17p11.2		 pathogenic
NM_004618.5(TOP3A):c.1791T>C (p.Asp597=) single nucleotide variant not provided [RCV003726836] Chr17:18285228 [GRCh38]
Chr17:18188542 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.644-16C>G single nucleotide variant not provided [RCV003555658] Chr17:18302450 [GRCh38]
Chr17:18205764 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.990+13C>A single nucleotide variant not provided [RCV003684835] Chr17:18299546 [GRCh38]
Chr17:18202860 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2430T>G (p.Ser810=) single nucleotide variant not provided [RCV003853434] Chr17:18278072 [GRCh38]
Chr17:18181386 [GRCh37]
Chr17:17p11.2		 likely benign
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 copy number gain not specified [RCV003987215] Chr17:525..21510992 [GRCh37]
Chr17:17p13.3-11.2		 pathogenic
NM_004618.5(TOP3A):c.2493G>A (p.Arg831=) single nucleotide variant not provided [RCV003712255] Chr17:18278009 [GRCh38]
Chr17:18181323 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2418T>G (p.Gly806=) single nucleotide variant not provided [RCV003685490] Chr17:18278084 [GRCh38]
Chr17:18181398 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.483C>T (p.Ile161=) single nucleotide variant not provided [RCV003728984] Chr17:18305128 [GRCh38]
Chr17:18208442 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.815-18T>C single nucleotide variant not provided [RCV003679801] Chr17:18302003 [GRCh38]
Chr17:18205317 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.644-12T>G single nucleotide variant not provided [RCV003706059] Chr17:18302446 [GRCh38]
Chr17:18205760 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.45G>A (p.Arg15=) single nucleotide variant not provided [RCV003847572] Chr17:18314734 [GRCh38]
Chr17:18218048 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.644-11_644-2del deletion not provided [RCV003706058] Chr17:18302436..18302445 [GRCh38]
Chr17:18205750..18205759 [GRCh37]
Chr17:17p11.2		 likely pathogenic
NM_004618.5(TOP3A):c.2828-20T>C single nucleotide variant not provided [RCV003681314] Chr17:18275000 [GRCh38]
Chr17:18178314 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2828-18C>T single nucleotide variant not provided [RCV003859458] Chr17:18274998 [GRCh38]
Chr17:18178312 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.499+8CTG[4] microsatellite not provided [RCV003845035] Chr17:18305090..18305092 [GRCh38]
Chr17:18208404..18208406 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1468-18A>G single nucleotide variant not provided [RCV003857136] Chr17:18290704 [GRCh38]
Chr17:18194018 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2220C>T (p.Cys740=) single nucleotide variant TOP3A-related disorder [RCV004554316]|not provided [RCV003727341] Chr17:18278282 [GRCh38]
Chr17:18181596 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.540G>A (p.Glu180=) single nucleotide variant not provided [RCV003859959] Chr17:18302683 [GRCh38]
Chr17:18205997 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.499+16_499+17insTGG insertion not provided [RCV003675209] Chr17:18305095..18305096 [GRCh38]
Chr17:18208409..18208410 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2022-8G>A single nucleotide variant TOP3A-related disorder [RCV004552754] Chr17:18280666 [GRCh38]
Chr17:18183980 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.2064T>C (p.Ala688=) single nucleotide variant TOP3A-related disorder [RCV004548767] Chr17:18280616 [GRCh38]
Chr17:18183930 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.1512C>T (p.Thr504=) single nucleotide variant TOP3A-related disorder [RCV004552797] Chr17:18290642 [GRCh38]
Chr17:18193956 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.240G>C (p.Gln80His) single nucleotide variant Microcephaly, growth restriction, and increased sister chromatid exchange 2 [RCV003990287] Chr17:18308882 [GRCh38]
Chr17:18212196 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.967C>A (p.Arg323=) single nucleotide variant TOP3A-related disorder [RCV004554471] Chr17:18299582 [GRCh38]
Chr17:18202896 [GRCh37]
Chr17:17p11.2		 likely benign
NM_004618.5(TOP3A):c.614A>G (p.Asp205Gly) single nucleotide variant Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 [RCV003890773] Chr17:18302609 [GRCh38]
Chr17:18205923 [GRCh37]
Chr17:17p11.2		 pathogenic
NC_000017.10:g.(18210281_18211664)_(18212256_18217912)dup duplication TOP3A-related disorder [RCV003988421] Chr17:18211664..18212256 [GRCh37]
Chr17:17p11.2		 likely pathogenic
NM_004618.5(TOP3A):c.1244C>G (p.Pro415Arg) single nucleotide variant Inborn genetic diseases [RCV004468067] Chr17:18292682 [GRCh38]
Chr17:18195996 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.174G>A (p.Met58Ile) single nucleotide variant Inborn genetic diseases [RCV004468070] Chr17:18314605 [GRCh38]
Chr17:18217919 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1715A>G (p.Tyr572Cys) single nucleotide variant Inborn genetic diseases [RCV004468069] Chr17:18285304 [GRCh38]
Chr17:18188618 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.268T>G (p.Ser90Ala) single nucleotide variant Inborn genetic diseases [RCV004468071] Chr17:18308397 [GRCh38]
Chr17:18211711 [GRCh37]
Chr17:17p11.2		 uncertain significance
NC_000017.10:g.(?_18193851)_(18208554_?)del deletion not provided [RCV004581397] Chr17:18193851..18208554 [GRCh37]
Chr17:17p11.2		 pathogenic
NC_000017.10:g.(?_18178116)_(18218092_?)dup duplication not provided [RCV004581398] Chr17:18178116..18218092 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1889C>G (p.Ala630Gly) single nucleotide variant Inborn genetic diseases [RCV004682604] Chr17:18282830 [GRCh38]
Chr17:18186144 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.1576C>T (p.Leu526Phe) single nucleotide variant Inborn genetic diseases [RCV004687571] Chr17:18290578 [GRCh38]
Chr17:18193892 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2333G>C (p.Ser778Thr) single nucleotide variant Inborn genetic diseases [RCV004677107] Chr17:18278169 [GRCh38]
Chr17:18181483 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.944G>C (p.Arg315Thr) single nucleotide variant Inborn genetic diseases [RCV004677109] Chr17:18299605 [GRCh38]
Chr17:18202919 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2497C>T (p.Arg833Trp) single nucleotide variant Inborn genetic diseases [RCV004677110] Chr17:18278005 [GRCh38]
Chr17:18181319 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.2446G>A (p.Gly816Ser) single nucleotide variant Inborn genetic diseases [RCV004677111] Chr17:18278056 [GRCh38]
Chr17:18181370 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.13G>A (p.Val5Ile) single nucleotide variant Inborn genetic diseases [RCV004687570] Chr17:18314766 [GRCh38]
Chr17:18218080 [GRCh37]
Chr17:17p11.2		 uncertain significance
NM_004618.5(TOP3A):c.991-12C>G single nucleotide variant not provided [RCV004769037] Chr17:18294797 [GRCh38]
Chr17:18198111 [GRCh37]
Chr17:17p11.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6593
Count of miRNA genes:1257
Interacting mature miRNAs:1636
Transcripts:ENST00000321105, ENST00000461127, ENST00000469739, ENST00000472959, ENST00000477508, ENST00000489131, ENST00000493648, ENST00000540524, ENST00000542570, ENST00000580095, ENST00000580713, ENST00000581536, ENST00000582122, ENST00000582230, ENST00000582981, ENST00000583328, ENST00000583804, ENST00000584582, ENST00000584669, ENST00000584887, ENST00000585031
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407179589GWAS828565_Hsystolic blood pressure QTL GWAS828565 (human)3e-10systolic blood pressuresystolic blood pressure (CMO:0000004)171828219618282197Human
407228005GWAS876981_Hbone density QTL GWAS876981 (human)1e-300bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)171831242918312430Human
407025350GWAS674326_Hmitochondrial DNA measurement QTL GWAS674326 (human)8e-18mitochondrial DNA measurement171828430718284308Human
407398638GWAS1047614_Hsystolic blood pressure QTL GWAS1047614 (human)3e-19systolic blood pressuresystolic blood pressure (CMO:0000004)171828219618282197Human
407417217GWAS1066193_Hpulse pressure measurement QTL GWAS1066193 (human)0.000005pulse pressure measurementpulse pressure (CMO:0000292)171828219618282197Human
407078671GWAS727647_Hmultiple sclerosis QTL GWAS727647 (human)7e-12multiple sclerosis171830749618307497Human
407074735GWAS723711_HX-24452 measurement QTL GWAS723711 (human)1e-24X-24452 measurement171830867018308671Human
407414201GWAS1063177_Hdiastolic blood pressure QTL GWAS1063177 (human)7e-19diastolic blood pressurediastolic blood pressure (CMO:0000005)171828219618282197Human
1298406BP16_HBlood pressure QTL 16 (human)0.0004Blood pressurehypertension susceptibility171477864740778647Human
407227696GWAS876672_Hbone density QTL GWAS876672 (human)1e-300bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)171829241618292417Human
407090329GWAS739305_Hmitochondrial DNA measurement QTL GWAS739305 (human)6e-12mitochondrial DNA measurement171829583618295837Human
407295162GWAS944138_Hsystolic blood pressure QTL GWAS944138 (human)2e-20systolic blood pressuresystolic blood pressure (CMO:0000004)171828219618282197Human
407386996GWAS1035972_Hprotein measurement QTL GWAS1035972 (human)1e-12protein measurement171828219618282197Human
407076799GWAS725775_Hdiastolic blood pressure QTL GWAS725775 (human)8e-09diastolic blood pressurediastolic blood pressure (CMO:0000005)171830930018309301Human
407130171GWAS779147_HHbA1c measurement QTL GWAS779147 (human)4e-10HbA1c measurementblood hemoglobin A1c level (CMO:0002786)171830307218303073Human
407084188GWAS733164_Hparental longevity QTL GWAS733164 (human)0.000008parental longevity171830930018309301Human

Markers in Region
RH47004  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371718,177,651 - 18,177,810UniSTSGRCh37
Build 361718,118,376 - 18,118,535RGDNCBI36
Celera1719,118,744 - 19,118,903RGD
Cytogenetic Map17p12-p11.2UniSTS
HuRef1717,930,884 - 17,931,043UniSTS
SHGC-80056  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371718,200,093 - 18,200,404UniSTSGRCh37
Build 361718,140,818 - 18,141,129RGDNCBI36
Celera1719,141,178 - 19,141,489RGD
Cytogenetic Map17p12-p11.2UniSTS
HuRef1717,953,136 - 17,953,447UniSTS
TNG Radiation Hybrid Map179864.0UniSTS
G59869  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371718,177,654 - 18,177,798UniSTSGRCh37
Build 361718,118,379 - 18,118,523RGDNCBI36
Celera1719,118,747 - 19,118,891RGD
Cytogenetic Map17p12-p11.2UniSTS
HuRef1717,930,887 - 17,931,031UniSTS
TNG Radiation Hybrid Map179833.0UniSTS
TOP3A__3878  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371718,177,377 - 18,178,266UniSTSGRCh37
GRCh37280,237,558 - 80,237,635UniSTSGRCh37
Build 36280,091,069 - 80,091,146RGDNCBI36
Celera280,066,201 - 80,066,278RGD
Celera1719,118,470 - 19,119,359UniSTS
HuRef1717,930,610 - 17,931,500UniSTS
HuRef279,972,876 - 79,972,953UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
D11S3430  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map9p11.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map8q24.3UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001320759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC127537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF026813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW294300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM462184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BY996313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U43431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000321105   ⟹   ENSP00000321636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,271,428 - 18,314,994 (-)Ensembl
Ensembl Acc Id: ENST00000461127   ⟹   ENSP00000464338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,302,604 - 18,314,944 (-)Ensembl
Ensembl Acc Id: ENST00000469739
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,273,967 - 18,307,159 (-)Ensembl
Ensembl Acc Id: ENST00000472959
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,306,588 - 18,314,960 (-)Ensembl
Ensembl Acc Id: ENST00000477508
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,280,175 - 18,282,813 (-)Ensembl
Ensembl Acc Id: ENST00000489131   ⟹   ENSP00000465864
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,272,838 - 18,274,877 (-)Ensembl
Ensembl Acc Id: ENST00000493648   ⟹   ENSP00000465014
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,271,428 - 18,274,958 (-)Ensembl
Ensembl Acc Id: ENST00000542570   ⟹   ENSP00000442336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,273,921 - 18,315,007 (-)Ensembl
Ensembl Acc Id: ENST00000580095   ⟹   ENSP00000462790
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,274,804 - 18,314,703 (-)Ensembl
Ensembl Acc Id: ENST00000580713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,308,682 - 18,314,812 (-)Ensembl
Ensembl Acc Id: ENST00000581536   ⟹   ENSP00000466641
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,285,428 - 18,302,361 (-)Ensembl
Ensembl Acc Id: ENST00000582122   ⟹   ENSP00000466099
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,282,791 - 18,290,916 (-)Ensembl
Ensembl Acc Id: ENST00000582230
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,307,526 - 18,314,969 (-)Ensembl
Ensembl Acc Id: ENST00000582981   ⟹   ENSP00000462378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,274,724 - 18,315,007 (-)Ensembl
Ensembl Acc Id: ENST00000583328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,306,550 - 18,314,774 (-)Ensembl
Ensembl Acc Id: ENST00000583804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,290,557 - 18,303,090 (-)Ensembl
Ensembl Acc Id: ENST00000584582   ⟹   ENSP00000462136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,274,228 - 18,314,993 (-)Ensembl
Ensembl Acc Id: ENST00000584669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,302,686 - 18,314,930 (-)Ensembl
Ensembl Acc Id: ENST00000584887
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,307,532 - 18,314,970 (-)Ensembl
Ensembl Acc Id: ENST00000585031   ⟹   ENSP00000464493
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1718,306,934 - 18,314,974 (-)Ensembl
RefSeq Acc Id: NM_001320759   ⟹   NP_001307688
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,271,428 - 18,314,994 (-)NCBI
CHM1_11718,183,522 - 18,227,165 (-)NCBI
T2T-CHM13v2.01718,218,234 - 18,261,800 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004618   ⟹   NP_004609
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,271,428 - 18,314,994 (-)NCBI
GRCh371718,177,235 - 18,218,321 (-)ENTREZGENE
Build 361718,117,960 - 18,159,046 (-)NCBI Archive
HuRef1717,930,468 - 17,971,853 (-)ENTREZGENE
CHM1_11718,183,522 - 18,227,165 (-)NCBI
T2T-CHM13v2.01718,218,234 - 18,261,800 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047436633   ⟹   XP_047292589
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,271,428 - 18,307,495 (-)NCBI
RefSeq Acc Id: XM_047436634   ⟹   XP_047292590
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,271,428 - 18,308,401 (-)NCBI
RefSeq Acc Id: XM_047436635   ⟹   XP_047292591
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,285,455 - 18,314,994 (-)NCBI
RefSeq Acc Id: XM_054317036   ⟹   XP_054173011
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01718,218,234 - 18,254,301 (-)NCBI
RefSeq Acc Id: XM_054317037   ⟹   XP_054173012
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01718,218,234 - 18,255,206 (-)NCBI
RefSeq Acc Id: XM_054317038   ⟹   XP_054173013
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01718,232,261 - 18,261,800 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001307688 (Get FASTA)   NCBI Sequence Viewer  
  NP_004609 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292589 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292590 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292591 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173011 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173012 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173013 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188088 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188089 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188090 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB03694 (Get FASTA)   NCBI Sequence Viewer  
  AAB03695 (Get FASTA)   NCBI Sequence Viewer  
  AAH51748 (Get FASTA)   NCBI Sequence Viewer  
  ADP90454 (Get FASTA)   NCBI Sequence Viewer  
  ADP90455 (Get FASTA)   NCBI Sequence Viewer  
  ADP90456 (Get FASTA)   NCBI Sequence Viewer  
  ADP90457 (Get FASTA)   NCBI Sequence Viewer  
  ADP90458 (Get FASTA)   NCBI Sequence Viewer  
  ADP90459 (Get FASTA)   NCBI Sequence Viewer  
  ADP90460 (Get FASTA)   NCBI Sequence Viewer  
  ADP90461 (Get FASTA)   NCBI Sequence Viewer  
  ADP90462 (Get FASTA)   NCBI Sequence Viewer  
  ADP90463 (Get FASTA)   NCBI Sequence Viewer  
  ADP90464 (Get FASTA)   NCBI Sequence Viewer  
  ADP90465 (Get FASTA)   NCBI Sequence Viewer  
  ADP90466 (Get FASTA)   NCBI Sequence Viewer  
  ADP90467 (Get FASTA)   NCBI Sequence Viewer  
  ADP90468 (Get FASTA)   NCBI Sequence Viewer  
  ADP90469 (Get FASTA)   NCBI Sequence Viewer  
  ADP90470 (Get FASTA)   NCBI Sequence Viewer  
  ADP90471 (Get FASTA)   NCBI Sequence Viewer  
  ADP90472 (Get FASTA)   NCBI Sequence Viewer  
  ADP90473 (Get FASTA)   NCBI Sequence Viewer  
  ADP90474 (Get FASTA)   NCBI Sequence Viewer  
  ADP90475 (Get FASTA)   NCBI Sequence Viewer  
  ADP90476 (Get FASTA)   NCBI Sequence Viewer  
  ADP90477 (Get FASTA)   NCBI Sequence Viewer  
  ADP90478 (Get FASTA)   NCBI Sequence Viewer  
  ADP90479 (Get FASTA)   NCBI Sequence Viewer  
  ADP90480 (Get FASTA)   NCBI Sequence Viewer  
  ADP90481 (Get FASTA)   NCBI Sequence Viewer  
  ADP90482 (Get FASTA)   NCBI Sequence Viewer  
  ADP90483 (Get FASTA)   NCBI Sequence Viewer  
  ADP90484 (Get FASTA)   NCBI Sequence Viewer  
  ADP90485 (Get FASTA)   NCBI Sequence Viewer  
  ADP90486 (Get FASTA)   NCBI Sequence Viewer  
  ADP90487 (Get FASTA)   NCBI Sequence Viewer  
  ADP90488 (Get FASTA)   NCBI Sequence Viewer  
  ADP90489 (Get FASTA)   NCBI Sequence Viewer  
  ADP90490 (Get FASTA)   NCBI Sequence Viewer  
  ADP90491 (Get FASTA)   NCBI Sequence Viewer  
  ADP90492 (Get FASTA)   NCBI Sequence Viewer  
  ADP90493 (Get FASTA)   NCBI Sequence Viewer  
  BAF83202 (Get FASTA)   NCBI Sequence Viewer  
  BAF85615 (Get FASTA)   NCBI Sequence Viewer  
  BAG54385 (Get FASTA)   NCBI Sequence Viewer  
  BAG59092 (Get FASTA)   NCBI Sequence Viewer  
  BAG61652 (Get FASTA)   NCBI Sequence Viewer  
  EAW55646 (Get FASTA)   NCBI Sequence Viewer  
  EAW55647 (Get FASTA)   NCBI Sequence Viewer  
  EAW55648 (Get FASTA)   NCBI Sequence Viewer  
  EAW55649 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000321636
  ENSP00000321636.5
  ENSP00000462136.1
  ENSP00000462378.1
  ENSP00000462790.1
  ENSP00000464338.1
  ENSP00000464493.1
  ENSP00000465014.1
  ENSP00000465864.1
  ENSP00000466099.1
  ENSP00000466641.1
  ENSP00000491258.1
  ENSP00000491260.1
  ENSP00000491282.1
  ENSP00000491577.1
  ENSP00000491689.1
  ENSP00000491978.1
  ENSP00000492470.1
  ENSP00000492504.1
  ENSP00000492689.1
  ENSP00000492861.1
GenBank Protein Q13472 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_004609   ⟸   NM_004618
- Peptide Label: isoform 1
- UniProtKB: D3DXC7 (UniProtKB/Swiss-Prot),   B4DK80 (UniProtKB/Swiss-Prot),   A8KA61 (UniProtKB/Swiss-Prot),   Q13473 (UniProtKB/Swiss-Prot),   Q13472 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001307688   ⟸   NM_001320759
- Peptide Label: isoform 2
- UniProtKB: Q13472 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000462790   ⟸   ENST00000580095
Ensembl Acc Id: ENSP00000442336   ⟸   ENST00000542570
Ensembl Acc Id: ENSP00000466641   ⟸   ENST00000581536
Ensembl Acc Id: ENSP00000466099   ⟸   ENST00000582122
Ensembl Acc Id: ENSP00000462378   ⟸   ENST00000582981
Ensembl Acc Id: ENSP00000462136   ⟸   ENST00000584582
Ensembl Acc Id: ENSP00000321636   ⟸   ENST00000321105
Ensembl Acc Id: ENSP00000464493   ⟸   ENST00000585031
Ensembl Acc Id: ENSP00000465014   ⟸   ENST00000493648
Ensembl Acc Id: ENSP00000464338   ⟸   ENST00000461127
Ensembl Acc Id: ENSP00000465864   ⟸   ENST00000489131
RefSeq Acc Id: XP_047292590   ⟸   XM_047436634
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047292589   ⟸   XM_047436633
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047292591   ⟸   XM_047436635
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054173012   ⟸   XM_054317037
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054173011   ⟸   XM_054317036
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054173013   ⟸   XM_054317038
- Peptide Label: isoform X2
Protein Domains
DNA topoisomerase type IA central   Topo IA-type catalytic   Toprim

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13472-F1-model_v2 AlphaFold Q13472 1-1001 view protein structure

Promoters
RGD ID:6794555
Promoter ID:HG_KWN:25258
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_004618,   NM_144775,   OTTHUMT00000132053,   OTTHUMT00000132055,   OTTHUMT00000132056,   UC010CQA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361718,158,856 - 18,159,412 (+)MPROMDB
RGD ID:6849734
Promoter ID:EP64007
Type:single initiation site
Name:HS_TOP3A
Description:Topoisomerase III alpha, TOP3 or TOP3A gene.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Tissues & Cell Lines:housekeeping gene
Experiment Methods:Primer extension with homologous sequence ladder
Position:
Human AssemblyChrPosition (strand)Source
Build 361718,159,046 - 18,159,106EPD
RGD ID:7234209
Promoter ID:EPDNEW_H22851
Type:initiation region
Name:TOP3A_1
Description:topoisomerase III alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381718,314,963 - 18,315,023EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11992 AgrOrtholog
COSMIC TOP3A COSMIC
Ensembl Genes ENSG00000177302 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000284238 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000321105 ENTREZGENE
  ENST00000321105.10 UniProtKB/Swiss-Prot
  ENST00000461127.5 UniProtKB/TrEMBL
  ENST00000489131.1 UniProtKB/TrEMBL
  ENST00000493648.1 UniProtKB/TrEMBL
  ENST00000580095.5 UniProtKB/Swiss-Prot
  ENST00000581536.5 UniProtKB/TrEMBL
  ENST00000582122.1 UniProtKB/TrEMBL
  ENST00000582981.5 UniProtKB/TrEMBL
  ENST00000584582.5 UniProtKB/TrEMBL
  ENST00000585031.2 UniProtKB/TrEMBL
  ENST00000639065.1 UniProtKB/Swiss-Prot
  ENST00000639180.1 UniProtKB/TrEMBL
  ENST00000639383.1 UniProtKB/TrEMBL
  ENST00000639826.1 UniProtKB/TrEMBL
  ENST00000640167.1 UniProtKB/TrEMBL
  ENST00000640624.1 UniProtKB/TrEMBL
  ENST00000640740.1 UniProtKB/TrEMBL
  ENST00000640743.2 UniProtKB/Swiss-Prot
  ENST00000640882.1 UniProtKB/TrEMBL
  ENST00000640917.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.290.10 UniProtKB/Swiss-Prot
  1.10.460.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.70.20.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.140 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Bacterial Topoisomerase I, domain 1 UniProtKB/Swiss-Prot
GTEx ENSG00000177302 GTEx
  ENSG00000284238 GTEx
HGNC ID HGNC:11992 ENTREZGENE
Human Proteome Map TOP3A Human Proteome Map
InterPro Topo_IA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Topo_IA_2 UniProtKB/Swiss-Prot
  Topo_IA_AS UniProtKB/Swiss-Prot
  Topo_IA_cen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Topo_IA_cen_sub1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Topo_IA_cen_sub2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Topo_IA_cen_sub3 UniProtKB/Swiss-Prot
  Topo_IA_core_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Topo_IA_DNA-bd_dom UniProtKB/Swiss-Prot
  Topo_IA_Znf UniProtKB/Swiss-Prot
  TOPRIM_domain UniProtKB/Swiss-Prot
  TOPRIM_TopoIII UniProtKB/Swiss-Prot
  Znf_CCHC_sf UniProtKB/TrEMBL
  Znf_GRF UniProtKB/Swiss-Prot
KEGG Report hsa:7156 UniProtKB/Swiss-Prot
NCBI Gene 7156 ENTREZGENE
OMIM 601243 OMIM
PANTHER DNA TOPOISOMERASE 3-ALPHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11390 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Topoisom_bac UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Toprim UniProtKB/Swiss-Prot
  zf-C2H2_10 UniProtKB/TrEMBL
  zf-C4_Topoisom UniProtKB/Swiss-Prot
  zf-GRF UniProtKB/Swiss-Prot
PharmGKB PA36673 PharmGKB
PRINTS PRTPISMRASEI UniProtKB/Swiss-Prot
PROSITE TOPO_IA_2 UniProtKB/Swiss-Prot
  TOPOISOMERASE_I_PROK UniProtKB/Swiss-Prot
  TOPRIM UniProtKB/Swiss-Prot
  ZF_GRF UniProtKB/Swiss-Prot
SMART TOP1Ac UniProtKB/Swiss-Prot
  TOP1Bc UniProtKB/Swiss-Prot
  TOPRIM UniProtKB/Swiss-Prot
Superfamily-SCOP SSF56712 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57756 UniProtKB/TrEMBL
  Zinc beta-ribbon UniProtKB/Swiss-Prot
UniProt A8KA61 ENTREZGENE
  B4DK80 ENTREZGENE
  D3DXC7 ENTREZGENE
  J3KRR9_HUMAN UniProtKB/TrEMBL
  J3KS96_HUMAN UniProtKB/TrEMBL
  J3QR18_HUMAN UniProtKB/TrEMBL
  J3QS25_HUMAN UniProtKB/TrEMBL
  K7EJ41_HUMAN UniProtKB/TrEMBL
  K7EL07_HUMAN UniProtKB/TrEMBL
  K7ELI7_HUMAN UniProtKB/TrEMBL
  K7EMT6_HUMAN UniProtKB/TrEMBL
  Q13472 ENTREZGENE
  Q13473 ENTREZGENE
  TOP3A_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8KA61 UniProtKB/Swiss-Prot
  B4DK80 UniProtKB/Swiss-Prot
  D3DXC7 UniProtKB/Swiss-Prot
  Q13473 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-08-08 TOP3A  DNA topoisomerase III alpha  TOP3A  topoisomerase (DNA) III alpha  Symbol and/or name change 5135510 APPROVED