TDP1 (tyrosyl-DNA phosphodiesterase 1) - Rat Genome Database

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Gene: TDP1 (tyrosyl-DNA phosphodiesterase 1) Homo sapiens
Analyze
Symbol: TDP1
Name: tyrosyl-DNA phosphodiesterase 1
RGD ID: 1320052
HGNC Page HGNC
Description: Exhibits 3'-tyrosyl-DNA phosphodiesterase activity; double-stranded DNA binding activity; and single-stranded DNA binding activity. Involved in double-strand break repair and single strand break repair. Localizes to cytoplasm; nucleoplasm; and plasma membrane. Implicated in spinocerebellar ataxia type 1 with axonal neuropathy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FLJ11090; MGC104252; tyr-DNA phosphodiesterase 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1489,954,939 - 90,044,764 (+)EnsemblGRCh38hg38GRCh38
GRCh381489,954,923 - 90,044,768 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371490,422,271 - 90,511,108 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361489,491,999 - 89,580,861 (+)NCBINCBI36hg18NCBI36
Build 341489,491,998 - 89,580,859NCBI
Celera1470,469,447 - 70,558,298 (+)NCBI
Cytogenetic Map14q32.11NCBI
HuRef1470,596,174 - 70,685,067 (+)NCBIHuRef
CHM1_11490,360,149 - 90,448,932 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:8889548   PMID:10521354   PMID:11572945   PMID:11839309   PMID:12023295   PMID:12244316   PMID:12470949   PMID:12477932   PMID:12508121   PMID:12618186   PMID:14702039   PMID:14761185  
PMID:15111055   PMID:15248776   PMID:15489334   PMID:15494395   PMID:15647511   PMID:15744309   PMID:15811850   PMID:15920477   PMID:16141202   PMID:16775218   PMID:16935573   PMID:17081983  
PMID:17118488   PMID:17478428   PMID:17576665   PMID:17600775   PMID:17707402   PMID:17948061   PMID:18270339   PMID:18347181   PMID:19505854   PMID:19604089   PMID:19851285   PMID:20009512  
PMID:20097655   PMID:20301284   PMID:21041670   PMID:21276450   PMID:21628532   PMID:21873635   PMID:22155078   PMID:22375014   PMID:22415824   PMID:22658674   PMID:22822062   PMID:22939629  
PMID:23536040   PMID:23852793   PMID:23913164   PMID:24161509   PMID:24183900   PMID:24335147   PMID:24355542   PMID:24856239   PMID:24981860   PMID:25522766   PMID:25544563   PMID:25609251  
PMID:25841101   PMID:25987486   PMID:26121557   PMID:26181362   PMID:26186194   PMID:26344197   PMID:26421495   PMID:27470939   PMID:27551064   PMID:27687298   PMID:27893431   PMID:28514442  
PMID:28802254   PMID:28974547   PMID:28993637   PMID:29078113   PMID:29216365   PMID:29295983   PMID:29523818   PMID:29718323   PMID:29747024   PMID:29987050   PMID:30021884   PMID:30113698  
PMID:31199869   PMID:31226795   PMID:31723605   PMID:32653827   PMID:32814053  


Genomics

Comparative Map Data
TDP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1489,954,939 - 90,044,764 (+)EnsemblGRCh38hg38GRCh38
GRCh381489,954,923 - 90,044,768 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371490,422,271 - 90,511,108 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361489,491,999 - 89,580,861 (+)NCBINCBI36hg18NCBI36
Build 341489,491,998 - 89,580,859NCBI
Celera1470,469,447 - 70,558,298 (+)NCBI
Cytogenetic Map14q32.11NCBI
HuRef1470,596,174 - 70,685,067 (+)NCBIHuRef
CHM1_11490,360,149 - 90,448,932 (+)NCBICHM1_1
Tdp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391299,850,767 - 99,921,482 (+)NCBIGRCm39mm39
GRCm39 Ensembl1299,850,776 - 99,921,478 (+)Ensembl
GRCm381299,884,515 - 99,955,223 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1299,884,517 - 99,955,219 (+)EnsemblGRCm38mm10GRCm38
MGSCv3712101,122,725 - 101,193,429 (+)NCBIGRCm37mm9NCBIm37
MGSCv3612100,285,568 - 100,338,412 (+)NCBImm8
Celera12101,107,017 - 101,181,494 (+)NCBICelera
Cytogenetic Map12ENCBI
Tdp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.26119,163,192 - 119,231,029 (+)NCBI
Rnor_6.0 Ensembl6123,897,956 - 123,963,675 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.06123,895,860 - 123,963,688 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.06133,109,211 - 133,187,083 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46124,095,259 - 124,162,815 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.16124,105,017 - 124,166,344 (+)NCBI
Celera6116,696,845 - 116,764,588 (+)NCBICelera
Cytogenetic Map6q32NCBI
Tdp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543812,421,005 - 12,511,493 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543812,421,790 - 12,510,243 (+)NCBIChiLan1.0ChiLan1.0
TDP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11489,926,462 - 90,014,802 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1489,926,462 - 90,014,802 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01470,574,066 - 70,662,562 (+)NCBIMhudiblu_PPA_v0panPan3
TDP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1861,023,564 - 61,107,599 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl861,024,084 - 61,107,506 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha860,602,950 - 60,687,315 (+)NCBI
ROS_Cfam_1.0861,295,027 - 61,379,934 (+)NCBI
UMICH_Zoey_3.1860,976,795 - 61,061,437 (+)NCBI
UNSW_CanFamBas_1.0861,025,579 - 61,109,935 (+)NCBI
UU_Cfam_GSD_1.0861,353,607 - 61,438,500 (+)NCBI
Tdp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864014,757,696 - 14,831,981 (-)NCBI
SpeTri2.0NW_00493648817,237,002 - 17,311,325 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TDP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl7111,767,089 - 111,853,257 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.17111,767,094 - 111,853,262 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.27118,331,680 - 118,417,900 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TDP1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12467,672,178 - 67,762,340 (+)NCBI
Tdp1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473412,319,499 - 12,414,815 (-)NCBI

Position Markers
G36046  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371490,441,834 - 90,441,970UniSTSGRCh37
Build 361489,511,587 - 89,511,723RGDNCBI36
Celera1470,489,036 - 70,489,172RGD
Cytogenetic Map14q32.11UniSTS
HuRef1470,615,765 - 70,615,901UniSTS
SHGC-80062  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371490,428,129 - 90,428,460UniSTSGRCh37
Build 361489,497,882 - 89,498,213RGDNCBI36
Celera1470,475,330 - 70,475,661RGD
Cytogenetic Map14q32.11UniSTS
HuRef1470,602,057 - 70,602,388UniSTS
TNG Radiation Hybrid Map1435524.0UniSTS
SHGC-80973  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371490,426,191 - 90,426,527UniSTSGRCh37
Build 361489,495,944 - 89,496,280RGDNCBI36
Celera1470,473,392 - 70,473,728RGD
Cytogenetic Map14q32.11UniSTS
HuRef1470,600,119 - 70,600,455UniSTS
TNG Radiation Hybrid Map1435555.0UniSTS
SHGC-142938  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371490,444,453 - 90,444,782UniSTSGRCh37
Build 361489,514,206 - 89,514,535RGDNCBI36
Celera1470,491,655 - 70,491,984RGD
Cytogenetic Map14q32.11UniSTS
HuRef1470,618,355 - 70,618,684UniSTS
TNG Radiation Hybrid Map1435564.0UniSTS
STS-W60094  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371490,510,911 - 90,511,060UniSTSGRCh37
Build 361489,580,664 - 89,580,813RGDNCBI36
Celera1470,558,101 - 70,558,250RGD
Cytogenetic Map14q32.11UniSTS
HuRef1470,684,870 - 70,685,019UniSTS
GeneMap99-GB4 RH Map14236.39UniSTS
WI-12715  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371490,509,550 - 90,509,650UniSTSGRCh37
Build 361489,579,303 - 89,579,403RGDNCBI36
Celera1470,556,740 - 70,556,840RGD
Cytogenetic Map14q32.11UniSTS
HuRef1470,683,509 - 70,683,609UniSTS
GeneMap99-GB4 RH Map14236.19UniSTS
Whitehead-RH Map14313.7UniSTS
RH44767  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371490,509,499 - 90,509,671UniSTSGRCh37
Build 361489,579,252 - 89,579,424RGDNCBI36
Celera1470,556,689 - 70,556,861RGD
Cytogenetic Map14q32.11UniSTS
HuRef1470,683,458 - 70,683,630UniSTS
GeneMap99-GB4 RH Map14236.09UniSTS
NCBI RH Map14935.0UniSTS
RH65069  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371490,425,145 - 90,425,347UniSTSGRCh37
Build 361489,494,898 - 89,495,100RGDNCBI36
Celera1470,472,346 - 70,472,548RGD
Cytogenetic Map14q32.11UniSTS
HuRef1470,599,073 - 70,599,275UniSTS
GeneMap99-GB4 RH Map14236.09UniSTS
NCBI RH Map14935.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4105
Count of miRNA genes:1088
Interacting mature miRNAs:1321
Transcripts:ENST00000335725, ENST00000357382, ENST00000393452, ENST00000393454, ENST00000545686, ENST00000553527, ENST00000553569, ENST00000553617, ENST00000553989, ENST00000554180, ENST00000554976, ENST00000555178, ENST00000555565, ENST00000555880, ENST00000556063, ENST00000556498, ENST00000556867, ENST00000557782
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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 157 12 31 16 766 20 242 48 121 65 605 223 8 1 2
Low 2280 2699 1687 601 1166 438 3850 1644 3578 353 855 1387 167 1 1204 2522 4 2
Below cutoff 2 280 8 7 19 7 265 505 35 1 1 265

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001008744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005267848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006720197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001750427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_943492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF182002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF182003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX119001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM661793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU849335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX161451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ367843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000335725   ⟹   ENSP00000337353
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1489,955,927 - 90,044,764 (+)Ensembl
RefSeq Acc Id: ENST00000393452   ⟹   ENSP00000377098
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1489,955,902 - 90,043,341 (+)Ensembl
RefSeq Acc Id: ENST00000393454   ⟹   ENSP00000377099
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1489,955,938 - 90,043,344 (+)Ensembl
RefSeq Acc Id: ENST00000545686   ⟹   ENSP00000444587
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1489,956,565 - 90,043,341 (+)Ensembl
RefSeq Acc Id: ENST00000553527   ⟹   ENSP00000451358
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1489,956,037 - 89,963,552 (+)Ensembl
RefSeq Acc Id: ENST00000553569
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1489,956,010 - 89,957,187 (+)Ensembl
RefSeq Acc Id: ENST00000553617   ⟹   ENSP00000450708
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1489,955,941 - 89,984,587 (+)Ensembl
RefSeq Acc Id: ENST00000553989   ⟹   ENSP00000452333
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1489,956,523 - 89,963,557 (+)Ensembl
RefSeq Acc Id: ENST00000554180   ⟹   ENSP00000450872
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1489,955,907 - 89,980,587 (+)Ensembl
RefSeq Acc Id: ENST00000554976   ⟹   ENSP00000452042
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1489,954,939 - 90,043,252 (+)Ensembl
RefSeq Acc Id: ENST00000555178   ⟹   ENSP00000452363
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1489,956,572 - 90,043,315 (+)Ensembl
RefSeq Acc Id: ENST00000555565
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1489,955,955 - 89,980,592 (+)Ensembl
RefSeq Acc Id: ENST00000555880   ⟹   ENSP00000450628
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1489,963,105 - 90,043,309 (+)Ensembl
RefSeq Acc Id: ENST00000556063   ⟹   ENSP00000450795
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1489,985,159 - 90,033,616 (+)Ensembl
RefSeq Acc Id: ENST00000556498   ⟹   ENSP00000452183
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1489,958,293 - 89,963,599 (+)Ensembl
RefSeq Acc Id: ENST00000556867   ⟹   ENSP00000452279
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1489,955,993 - 89,963,569 (+)Ensembl
RefSeq Acc Id: ENST00000557782   ⟹   ENSP00000451767
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1489,975,781 - 89,983,205 (+)Ensembl
RefSeq Acc Id: NM_001008744   ⟹   NP_001008744
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381489,955,927 - 90,044,764 (+)NCBI
GRCh371490,421,944 - 90,511,108 (+)NCBI
Build 361489,491,999 - 89,580,861 (+)NCBI Archive
HuRef1470,596,174 - 70,685,067 (+)ENTREZGENE
CHM1_11490,360,149 - 90,448,932 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330205   ⟹   NP_001317134
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381489,955,927 - 90,044,764 (+)NCBI
Sequence:
RefSeq Acc Id: NM_018319   ⟹   NP_060789
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381489,955,927 - 90,044,764 (+)NCBI
GRCh371490,421,944 - 90,511,108 (+)NCBI
Build 361489,491,999 - 89,580,861 (+)NCBI Archive
HuRef1470,596,174 - 70,685,067 (+)ENTREZGENE
CHM1_11490,360,149 - 90,448,932 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005267848   ⟹   XP_005267905
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381489,956,037 - 90,044,759 (+)NCBI
GRCh371490,421,944 - 90,511,108 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006720197   ⟹   XP_006720260
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381489,955,969 - 90,044,759 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011536942   ⟹   XP_011535244
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381489,954,923 - 90,044,224 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011536944   ⟹   XP_011535246
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381489,955,907 - 90,044,768 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017021439   ⟹   XP_016876928
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381489,955,878 - 90,044,759 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017021440   ⟹   XP_016876929
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381489,955,911 - 90,044,768 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449649   ⟹   XP_024305417
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381489,955,907 - 90,044,764 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449650   ⟹   XP_024305418
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381489,955,600 - 90,044,764 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449651   ⟹   XP_024305419
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381489,956,085 - 90,044,764 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449652   ⟹   XP_024305420
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381489,955,911 - 90,044,764 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449653   ⟹   XP_024305421
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381489,956,037 - 90,044,764 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449654   ⟹   XP_024305422
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381489,959,802 - 90,044,764 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449655   ⟹   XP_024305423
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381489,955,369 - 90,044,764 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449656   ⟹   XP_024305424
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381489,958,296 - 90,044,764 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449657   ⟹   XP_024305425
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381489,955,938 - 90,044,759 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449658   ⟹   XP_024305426
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381489,955,945 - 90,044,759 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449659   ⟹   XP_024305427
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381489,956,037 - 90,044,768 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001750427
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381489,955,911 - 90,044,764 (+)NCBI
Sequence:
RefSeq Acc Id: XR_943492
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381489,955,907 - 90,044,768 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001008744 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317134 (Get FASTA)   NCBI Sequence Viewer  
  NP_060789 (Get FASTA)   NCBI Sequence Viewer  
  XP_005267905 (Get FASTA)   NCBI Sequence Viewer  
  XP_006720260 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535244 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535246 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876928 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876929 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305417 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305418 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305419 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305420 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305421 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305422 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305423 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305424 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305425 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305426 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305427 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF65623 (Get FASTA)   NCBI Sequence Viewer  
  AAF65624 (Get FASTA)   NCBI Sequence Viewer  
  AAH06083 (Get FASTA)   NCBI Sequence Viewer  
  AAH15474 (Get FASTA)   NCBI Sequence Viewer  
  AAI07878 (Get FASTA)   NCBI Sequence Viewer  
  ABC79301 (Get FASTA)   NCBI Sequence Viewer  
  BAA91997 (Get FASTA)   NCBI Sequence Viewer  
  BAG37927 (Get FASTA)   NCBI Sequence Viewer  
  BAG51203 (Get FASTA)   NCBI Sequence Viewer  
  CAC38574 (Get FASTA)   NCBI Sequence Viewer  
  CAD61915 (Get FASTA)   NCBI Sequence Viewer  
  EAW81414 (Get FASTA)   NCBI Sequence Viewer  
  EAW81415 (Get FASTA)   NCBI Sequence Viewer  
  EAW81416 (Get FASTA)   NCBI Sequence Viewer  
  Q9NUW8 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_060789   ⟸   NM_018319
- Peptide Label: isoform a
- UniProtKB: Q9NUW8 (UniProtKB/Swiss-Prot),   A0A024R6L5 (UniProtKB/TrEMBL),   B3KN41 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001008744   ⟸   NM_001008744
- Peptide Label: isoform a
- UniProtKB: Q9NUW8 (UniProtKB/Swiss-Prot),   A0A024R6L5 (UniProtKB/TrEMBL),   B3KN41 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005267905   ⟸   XM_005267848
- Peptide Label: isoform X2
- UniProtKB: Q9NUW8 (UniProtKB/Swiss-Prot),   A0A024R6L5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006720260   ⟸   XM_006720197
- Peptide Label: isoform X2
- UniProtKB: Q9NUW8 (UniProtKB/Swiss-Prot),   A0A024R6L5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011535244   ⟸   XM_011536942
- Peptide Label: isoform X2
- UniProtKB: Q9NUW8 (UniProtKB/Swiss-Prot),   A0A024R6L5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011535246   ⟸   XM_011536944
- Peptide Label: isoform X3
- UniProtKB: G3V2F4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016876928   ⟸   XM_017021439
- Peptide Label: isoform X2
- UniProtKB: Q9NUW8 (UniProtKB/Swiss-Prot),   A0A024R6L5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016876929   ⟸   XM_017021440
- Peptide Label: isoform X3
- UniProtKB: G3V2F4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024305423   ⟸   XM_024449655
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024305418   ⟸   XM_024449650
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024305417   ⟸   XM_024449649
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024305420   ⟸   XM_024449652
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024305425   ⟸   XM_024449657
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_024305426   ⟸   XM_024449658
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: NP_001317134   ⟸   NM_001330205
- Peptide Label: isoform b
- UniProtKB: G3V2F4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024305427   ⟸   XM_024449659
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_024305421   ⟸   XM_024449653
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024305419   ⟸   XM_024449651
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024305424   ⟸   XM_024449656
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024305422   ⟸   XM_024449654
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000450628   ⟸   ENST00000555880
RefSeq Acc Id: ENSP00000452363   ⟸   ENST00000555178
RefSeq Acc Id: ENSP00000450795   ⟸   ENST00000556063
RefSeq Acc Id: ENSP00000452183   ⟸   ENST00000556498
RefSeq Acc Id: ENSP00000452279   ⟸   ENST00000556867
RefSeq Acc Id: ENSP00000451767   ⟸   ENST00000557782
RefSeq Acc Id: ENSP00000444587   ⟸   ENST00000545686
RefSeq Acc Id: ENSP00000337353   ⟸   ENST00000335725
RefSeq Acc Id: ENSP00000377099   ⟸   ENST00000393454
RefSeq Acc Id: ENSP00000377098   ⟸   ENST00000393452
RefSeq Acc Id: ENSP00000450708   ⟸   ENST00000553617
RefSeq Acc Id: ENSP00000451358   ⟸   ENST00000553527
RefSeq Acc Id: ENSP00000452333   ⟸   ENST00000553989
RefSeq Acc Id: ENSP00000452042   ⟸   ENST00000554976
RefSeq Acc Id: ENSP00000450872   ⟸   ENST00000554180

Promoters
RGD ID:6791968
Promoter ID:HG_KWN:19977
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000267544,   NM_001008744,   NM_018319,   OTTHUMT00000309022,   UC001XXS.1,   UC001XXV.1,   UC001XXW.1,   UC001XXX.1,   UC001XYA.1,   UC010ATM.1,   UC010ATN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361489,490,721 - 89,492,067 (+)MPROMDB
RGD ID:6791943
Promoter ID:HG_KWN:19978
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
Transcripts:UC001XYB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361489,492,081 - 89,492,597 (+)MPROMDB
RGD ID:7228345
Promoter ID:EPDNEW_H19918
Type:initiation region
Name:TDP1_1
Description:tyrosyl-DNA phosphodiesterase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19919  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381489,955,935 - 89,955,995EPDNEW
RGD ID:7228347
Promoter ID:EPDNEW_H19919
Type:multiple initiation site
Name:TDP1_2
Description:tyrosyl-DNA phosphodiesterase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19918  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381489,956,566 - 89,956,626EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_018319.4(TDP1):c.537C>T (p.Asn179=) single nucleotide variant not provided [RCV000889740]|not specified [RCV000517308] Chr14:89963651 [GRCh38]
Chr14:90429995 [GRCh37]
Chr14:14q32.11
benign
NM_018319.4(TDP1):c.876A>T (p.Lys292Asn) single nucleotide variant not specified [RCV000518218] Chr14:89980624 [GRCh38]
Chr14:90446968 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.285G>T (p.Glu95Asp) single nucleotide variant not provided [RCV000516365]|not specified [RCV001283508] Chr14:89963399 [GRCh38]
Chr14:90429743 [GRCh37]
Chr14:14q32.11
benign|likely benign
NM_018319.4(TDP1):c.1081C>T (p.Arg361Cys) single nucleotide variant not specified [RCV000518577] Chr14:89985160 [GRCh38]
Chr14:90451504 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.1294A>C (p.Lys432Gln) single nucleotide variant not specified [RCV000517174] Chr14:89989067 [GRCh38]
Chr14:90455411 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.1478A>G (p.His493Arg) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000003593] Chr14:89993420 [GRCh38]
Chr14:90459764 [GRCh37]
Chr14:14q32.11
pathogenic
GRCh38/hg38 14q24.2-32.2(chr14:72787506-99596719)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|See cases [RCV000052293] Chr14:72787506..99596719 [GRCh38]
Chr14:73254214..100063056 [GRCh37]
Chr14:72323967..99132809 [NCBI36]
Chr14:14q24.2-32.2
pathogenic
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3 copy number gain See cases [RCV000052295] Chr14:86094030..106832642 [GRCh38]
Chr14:86560374..107240869 [GRCh37]
Chr14:85630127..106311914 [NCBI36]
Chr14:14q31.3-32.33
pathogenic
GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3 copy number gain See cases [RCV000052294] Chr14:83912345..106855405 [GRCh38]
Chr14:84378689..107263620 [GRCh37]
Chr14:83448442..106334665 [NCBI36]
Chr14:14q31.2-32.33
pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 copy number gain See cases [RCV000134000] Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 copy number gain See cases [RCV000138230] Chr14:77222795..106879298 [GRCh38]
Chr14:77689138..107287505 [GRCh37]
Chr14:76758891..106358550 [NCBI36]
Chr14:14q24.3-32.33
pathogenic
GRCh38/hg38 14q32.11(chr14:89840367-89986509)x1 copy number loss See cases [RCV000139963] Chr14:89840367..89986509 [GRCh38]
Chr14:90306711..90452853 [GRCh37]
Chr14:89376464..89522606 [NCBI36]
Chr14:14q32.11
likely benign
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
NM_018319.4(TDP1):c.208T>A (p.Ser70Thr) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001117926]|not provided [RCV000177303] Chr14:89963322 [GRCh38]
Chr14:90429666 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.731C>G (p.Pro244Arg) single nucleotide variant not provided [RCV000756758] Chr14:89971246 [GRCh38]
Chr14:90437590 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.979T>G (p.Leu327Val) single nucleotide variant not specified [RCV000518644] Chr14:89984610 [GRCh38]
Chr14:90450954 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.1543G>A (p.Ala515Thr) single nucleotide variant not provided [RCV000516339] Chr14:90019317 [GRCh38]
Chr14:90485661 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.884+5G>A single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000281726] Chr14:89980637 [GRCh38]
Chr14:90446981 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.400G>A (p.Ala134Thr) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000282718]|not specified [RCV001288863] Chr14:89963514 [GRCh38]
Chr14:90429858 [GRCh37]
Chr14:14q32.11
benign
NM_018319.4(TDP1):c.1799C>T (p.Thr600Met) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001002022] Chr14:90043115 [GRCh38]
Chr14:90509459 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.*1452C>T single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000394018] Chr14:90044595 [GRCh38]
Chr14:90510939 [GRCh37]
Chr14:14q32.11
benign|likely benign
NM_018319.4(TDP1):c.1747A>G (p.Ser583Gly) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000265683]|not specified [RCV000518094] Chr14:90033208 [GRCh38]
Chr14:90499552 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.291A>G (p.Gln97=) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000322773] Chr14:89963405 [GRCh38]
Chr14:90429749 [GRCh37]
Chr14:14q32.11
benign
NM_018319.3(TDP1):c.-276_-274dupCCG microsatellite Autosomal recessive cerebellar ataxia [RCV000395896] Chr14:89955920..89955921 [GRCh38]
Chr14:90422264..90422265 [GRCh37]
Chr14:14q32.11
benign
NM_018319.4(TDP1):c.*89_*90dup duplication Autosomal recessive cerebellar ataxia [RCV000266642] Chr14:90043230..90043231 [GRCh38]
Chr14:90509574..90509575 [GRCh37]
Chr14:14q32.11
likely benign
NM_018319.4(TDP1):c.*393T>C single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000371820] Chr14:90043536 [GRCh38]
Chr14:90509880 [GRCh37]
Chr14:14q32.11
benign|likely benign
NM_018319.4(TDP1):c.*1355G>A single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000303654] Chr14:90044498 [GRCh38]
Chr14:90510842 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.19T>C (p.Tyr7His) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000270004] Chr14:89963133 [GRCh38]
Chr14:90429477 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.*1460C>G single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000304913] Chr14:90044603 [GRCh38]
Chr14:90510947 [GRCh37]
Chr14:14q32.11
benign|likely benign
NM_018319.4(TDP1):c.*945C>T single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000288855] Chr14:90044088 [GRCh38]
Chr14:90510432 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.-21C>T single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000328241] Chr14:89956787 [GRCh38]
Chr14:90423131 [GRCh37]
Chr14:14q32.11
benign
NM_018319.4(TDP1):c.*776T>C single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000292178] Chr14:90043919 [GRCh38]
Chr14:90510263 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.-55C>G single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000275388] Chr14:89956753 [GRCh38]
Chr14:90423097 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.1077A>G (p.Pro359=) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000294801]|not specified [RCV001288511] Chr14:89985156 [GRCh38]
Chr14:90451500 [GRCh37]
Chr14:14q32.11
benign|likely benign
NM_018319.4(TDP1):c.1317+11G>A single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000312540] Chr14:89989101 [GRCh38]
Chr14:90455445 [GRCh37]
Chr14:14q32.11
benign|uncertain significance
NM_018319.4(TDP1):c.*264G>T single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000317084] Chr14:90043407 [GRCh38]
Chr14:90509751 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.-230-14C>A single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000298006] Chr14:89956564 [GRCh38]
Chr14:90422908 [GRCh37]
Chr14:14q32.11
benign
NM_018319.4(TDP1):c.*539G>A single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000281965] Chr14:90043682 [GRCh38]
Chr14:90510026 [GRCh37]
Chr14:14q32.11
benign|likely benign
NM_018319.4(TDP1):c.1705A>G (p.Thr569Ala) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000364956]|not provided [RCV000517202] Chr14:90033166 [GRCh38]
Chr14:90499510 [GRCh37]
Chr14:14q32.11
benign|likely benign|uncertain significance
NM_018319.4(TDP1):c.716A>G (p.His239Arg) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000321653] Chr14:89971231 [GRCh38]
Chr14:90437575 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.3(TDP1):c.-292G>T single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000343356] Chr14:89955909 [GRCh38]
Chr14:90422253 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.*1015G>A single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000343717] Chr14:90044158 [GRCh38]
Chr14:90510502 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.15C>T (p.Gly5=) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000366546]|not provided [RCV000592284] Chr14:89963129 [GRCh38]
Chr14:90429473 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.*1203G>T single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000394036] Chr14:90044346 [GRCh38]
Chr14:90510690 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.1107T>C (p.Asn369=) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000395428]|not specified [RCV001288512] Chr14:89985186 [GRCh38]
Chr14:90451530 [GRCh37]
Chr14:14q32.11
benign|likely benign
NM_018319.4(TDP1):c.1343G>A (p.Arg448Gln) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000395435]|not provided [RCV001288514] Chr14:89989742 [GRCh38]
Chr14:90456086 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.789C>T (p.His263=) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000373954] Chr14:89975813 [GRCh38]
Chr14:90442157 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.*799A>G single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000351726] Chr14:90043942 [GRCh38]
Chr14:90510286 [GRCh37]
Chr14:14q32.11
benign|likely benign
NM_018319.4(TDP1):c.-224A>G single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000399882] Chr14:89956584 [GRCh38]
Chr14:90422928 [GRCh37]
Chr14:14q32.11
benign|likely benign
NM_018319.4(TDP1):c.1098A>G (p.Gln366=) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000352128]|not provided [RCV000890181] Chr14:89985177 [GRCh38]
Chr14:90451521 [GRCh37]
Chr14:14q32.11
benign|likely benign
NM_018319.4(TDP1):c.911G>A (p.Arg304Gln) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000403389]|not provided [RCV000890092] Chr14:89984542 [GRCh38]
Chr14:90450886 [GRCh37]
Chr14:14q32.11
benign|likely benign
NM_018319.4(TDP1):c.-3A>G single nucleotide variant not provided [RCV000285876] Chr14:89963112 [GRCh38]
Chr14:90429456 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.1366+10G>A single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000310346]|not provided [RCV000914081]|not specified [RCV001288515] Chr14:89989775 [GRCh38]
Chr14:90456119 [GRCh37]
Chr14:14q32.11
benign|likely benign|uncertain significance
NM_018319.4(TDP1):c.-230-4G>T single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000355124] Chr14:89956574 [GRCh38]
Chr14:90422918 [GRCh37]
Chr14:14q32.11
benign|likely benign
NM_018319.4(TDP1):c.302C>T (p.Pro101Leu) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000756757]|not specified [RCV001288860] Chr14:89963416 [GRCh38]
Chr14:90429760 [GRCh37]
Chr14:14q32.11
benign|likely benign
NM_018319.4(TDP1):c.885-15T>C single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000334446] Chr14:89984501 [GRCh38]
Chr14:90450845 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.-177C>T single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000315469] Chr14:89956631 [GRCh38]
Chr14:90422975 [GRCh37]
Chr14:14q32.11
benign|likely benign
NM_018319.4(TDP1):c.*77C>T single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000361404] Chr14:90043220 [GRCh38]
Chr14:90509564 [GRCh37]
Chr14:14q32.11
benign
NM_018319.4(TDP1):c.*774G>A single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000386622] Chr14:90043917 [GRCh38]
Chr14:90510261 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.*608del deletion Autosomal recessive cerebellar ataxia [RCV000318096] Chr14:90043749 [GRCh38]
Chr14:90510093 [GRCh37]
Chr14:14q32.11
benign
NM_018319.4(TDP1):c.*1448G>A single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000339822] Chr14:90044591 [GRCh38]
Chr14:90510935 [GRCh37]
Chr14:14q32.11
benign|likely benign
NM_018319.4(TDP1):c.1342C>T (p.Arg448Trp) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000364905]|not provided [RCV000993296]|not specified [RCV000507130] Chr14:89989741 [GRCh38]
Chr14:90456085 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.3(TDP1):c.-278C>T single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000303798] Chr14:89955923 [GRCh38]
Chr14:90422267 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.-76T>C single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000367697] Chr14:89956732 [GRCh38]
Chr14:90423076 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.621C>T (p.Asp207=) single nucleotide variant not specified [RCV000517397] Chr14:89967384 [GRCh38]
Chr14:90433728 [GRCh37]
Chr14:14q32.11
likely benign
NM_018319.4(TDP1):c.*904C>T single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000406592] Chr14:90044047 [GRCh38]
Chr14:90510391 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.3(TDP1):c.-275C>G single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000337731] Chr14:89955926 [GRCh38]
Chr14:90422270 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.-232A>C single nucleotide variant Autosomal recessive cerebellar ataxia [RCV000395893] Chr14:89955969 [GRCh38]
Chr14:90422313 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.572C>T (p.Pro191Leu) single nucleotide variant not specified [RCV000516798] Chr14:89966159 [GRCh38]
Chr14:90432503 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.970A>T (p.Ile324Phe) single nucleotide variant not specified [RCV000517755] Chr14:89984601 [GRCh38]
Chr14:90450945 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.1312T>A (p.Tyr438Asn) single nucleotide variant not specified [RCV000518085] Chr14:89989085 [GRCh38]
Chr14:90455429 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.556A>G (p.Lys186Glu) single nucleotide variant not specified [RCV000518193] Chr14:89963670 [GRCh38]
Chr14:90430014 [GRCh37]
Chr14:14q32.11
uncertain significance
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_018319.4(TDP1):c.1731_1753+646del deletion not provided [RCV000713818] Chr14:90033189..90033857 [GRCh38]
Chr14:90499533..90500201 [GRCh37]
Chr14:14q32.11
likely pathogenic
NM_018319.4(TDP1):c.2T>G (p.Met1Arg) single nucleotide variant not provided [RCV000713819] Chr14:89963116 [GRCh38]
Chr14:90429460 [GRCh37]
Chr14:14q32.11
likely pathogenic
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 copy number gain See cases [RCV000512497] Chr14:73750741..107285437 [GRCh37]
Chr14:14q24.2-32.33
pathogenic
NM_018319.4(TDP1):c.148G>A (p.Glu50Lys) single nucleotide variant not provided [RCV000713816] Chr14:89963262 [GRCh38]
Chr14:90429606 [GRCh37]
Chr14:14q32.11
uncertain significance
GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1 copy number loss not provided [RCV000683625] Chr14:84783137..96908198 [GRCh37]
Chr14:14q31.2-32.2
pathogenic
NM_018319.4(TDP1):c.1557G>C (p.Lys519Asn) single nucleotide variant not provided [RCV000713817] Chr14:90019331 [GRCh38]
Chr14:90485675 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.34A>T (p.Ile12Leu) single nucleotide variant not provided [RCV000713820] Chr14:89963148 [GRCh38]
Chr14:90429492 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.429C>T (p.Asp143=) single nucleotide variant not provided [RCV000713821] Chr14:89963543 [GRCh38]
Chr14:90429887 [GRCh37]
Chr14:14q32.11
likely benign
NM_018319.4(TDP1):c.1165G>A (p.Ala389Thr) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001121475]|not provided [RCV000993294]|not specified [RCV000736052] Chr14:89988938 [GRCh38]
Chr14:90455282 [GRCh37]
Chr14:14q32.11
benign|likely benign
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_018319.4(TDP1):c.1249A>G (p.Lys417Glu) single nucleotide variant not provided [RCV000993295] Chr14:89989022 [GRCh38]
Chr14:90455366 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.236G>C (p.Ser79Thr) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001117927]|not provided [RCV000993299] Chr14:89963350 [GRCh38]
Chr14:90429694 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.341_342del (p.Lys114fs) deletion not provided [RCV000995229] Chr14:89963454..89963455 [GRCh38]
Chr14:90429798..90429799 [GRCh37]
Chr14:14q32.11
likely pathogenic|conflicting interpretations of pathogenicity
NM_018319.4(TDP1):c.1611C>G (p.Tyr537Ter) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000778159] Chr14:90019385 [GRCh38]
Chr14:90485729 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.896del (p.Ser299fs) deletion Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV000778419] Chr14:89984527 [GRCh38]
Chr14:90450871 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.604-4C>G single nucleotide variant not provided [RCV000915975] Chr14:89967363 [GRCh38]
Chr14:90433707 [GRCh37]
Chr14:14q32.11
likely benign
NM_018319.4(TDP1):c.137A>G (p.Tyr46Cys) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001116482]|not provided [RCV000993298] Chr14:89963251 [GRCh38]
Chr14:90429595 [GRCh37]
Chr14:14q32.11
uncertain significance
GRCh37/hg19 14q32.11(chr14:90476972-90505856)x1 copy number loss not provided [RCV000847952] Chr14:90476972..90505856 [GRCh37]
Chr14:14q32.11
pathogenic
NM_018319.4(TDP1):c.643T>C (p.Tyr215His) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001117929] Chr14:89967406 [GRCh38]
Chr14:90433750 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.*631C>T single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001118034] Chr14:90043774 [GRCh38]
Chr14:90510118 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.*1618T>C single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001116695] Chr14:90044761 [GRCh38]
Chr14:90511105 [GRCh37]
Chr14:14q32.11
likely benign
NM_018319.4(TDP1):c.*599G>C single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001118033] Chr14:90043742 [GRCh38]
Chr14:90510086 [GRCh37]
Chr14:14q32.11
likely benign
NM_018319.4(TDP1):c.68C>T (p.Pro23Leu) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001116480] Chr14:89963182 [GRCh38]
Chr14:90429526 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.*1511C>G single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001116694] Chr14:90044654 [GRCh38]
Chr14:90510998 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.525_529del (p.Pro176fs) deletion not provided [RCV001090625] Chr14:89963637..89963641 [GRCh38]
Chr14:90429981..90429985 [GRCh37]
Chr14:14q32.11
likely pathogenic
NM_018319.4(TDP1):c.*801G>A single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001119568] Chr14:90043944 [GRCh38]
Chr14:90510288 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.-8+15T>C single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001116478] Chr14:89956815 [GRCh38]
Chr14:90423159 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.25A>G (p.Arg9Gly) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001116479] Chr14:89963139 [GRCh38]
Chr14:90429483 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.*37T>C single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001116581] Chr14:90043180 [GRCh38]
Chr14:90509524 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.*598G>A single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001118032] Chr14:90043741 [GRCh38]
Chr14:90510085 [GRCh37]
Chr14:14q32.11
benign
NM_018319.4(TDP1):c.135G>A (p.Arg45=) single nucleotide variant not provided [RCV000993297] Chr14:89963249 [GRCh38]
Chr14:90429593 [GRCh37]
Chr14:14q32.11
likely benign
NM_018319.4(TDP1):c.399C>T (p.Pro133=) single nucleotide variant not provided [RCV000993300] Chr14:89963513 [GRCh38]
Chr14:90429857 [GRCh37]
Chr14:14q32.11
likely benign
NM_018319.4(TDP1):c.353C>T (p.Ala118Val) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001117928] Chr14:89963467 [GRCh38]
Chr14:90429811 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.*134A>C single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001116582] Chr14:90043277 [GRCh38]
Chr14:90509621 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.-243C>T single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001119393] Chr14:89955958 [GRCh38]
Chr14:90422302 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.998C>T (p.Pro333Leu) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001119475] Chr14:89984629 [GRCh38]
Chr14:90450973 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.237C>T (p.Ser79=) single nucleotide variant not provided [RCV000900976] Chr14:89963351 [GRCh38]
Chr14:90429695 [GRCh37]
Chr14:14q32.11
likely benign
NM_018319.4(TDP1):c.1536C>T (p.Val512=) single nucleotide variant not provided [RCV000888577]|not specified [RCV001288517] Chr14:89993478 [GRCh38]
Chr14:90459822 [GRCh37]
Chr14:14q32.11
benign
NM_018319.4(TDP1):c.-242T>G single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001121385] Chr14:89955959 [GRCh38]
Chr14:90422303 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.1527G>C (p.Trp509Cys) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001121477] Chr14:89993469 [GRCh38]
Chr14:90459813 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.774G>A (p.Ala258=) single nucleotide variant not provided [RCV000957681]|not specified [RCV001288865] Chr14:89975798 [GRCh38]
Chr14:90442142 [GRCh37]
Chr14:14q32.11
benign|likely benign
NM_018319.4(TDP1):c.*496G>A single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001118031] Chr14:90043639 [GRCh38]
Chr14:90509983 [GRCh37]
Chr14:14q32.11
uncertain significance
GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1 copy number loss Deletion syndrome [RCV001004048] Chr14:84783523..96907490 [GRCh37]
Chr14:14q31.2-32.2
pathogenic
NM_018319.4(TDP1):c.*1200G>A single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001121573] Chr14:90044343 [GRCh38]
Chr14:90510687 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.757G>A (p.Ala253Thr) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001119474] Chr14:89975781 [GRCh38]
Chr14:90442125 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.*932C>T single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001119569] Chr14:90044075 [GRCh38]
Chr14:90510419 [GRCh37]
Chr14:14q32.11
likely benign
NM_018319.4(TDP1):c.-38G>A single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001121386] Chr14:89956770 [GRCh38]
Chr14:90423114 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.*1367A>G single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001121575] Chr14:90044510 [GRCh38]
Chr14:90510854 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.*228T>G single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001116584] Chr14:90043371 [GRCh38]
Chr14:90509715 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.-264G>A single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001119392] Chr14:89955937 [GRCh38]
Chr14:90422281 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.*950C>T single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001119570] Chr14:90044093 [GRCh38]
Chr14:90510437 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.1201G>T (p.Val401Phe) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001121476] Chr14:89988974 [GRCh38]
Chr14:90455318 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.*1099G>A single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001121571] Chr14:90044242 [GRCh38]
Chr14:90510586 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.*1105A>G single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001121572] Chr14:90044248 [GRCh38]
Chr14:90510592 [GRCh37]
Chr14:14q32.11
benign
NM_018319.4(TDP1):c.*1239T>C single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001121574] Chr14:90044382 [GRCh38]
Chr14:90510726 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.*1399T>A single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001121576] Chr14:90044542 [GRCh38]
Chr14:90510886 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.1800G>A (p.Thr600=) single nucleotide variant not provided [RCV001200597]|not specified [RCV001288859] Chr14:90043116 [GRCh38]
Chr14:90509460 [GRCh37]
Chr14:14q32.11
benign|uncertain significance
NM_018319.4(TDP1):c.84A>G (p.Pro28=) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001116481] Chr14:89963198 [GRCh38]
Chr14:90429542 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.*135T>C single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001116583] Chr14:90043278 [GRCh38]
Chr14:90509622 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.*1430G>C single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001116693] Chr14:90044573 [GRCh38]
Chr14:90510917 [GRCh37]
Chr14:14q32.11
likely benign
NM_018319.4(TDP1):c.910C>T (p.Arg304Ter) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001332247] Chr14:89984541 [GRCh38]
Chr14:90450885 [GRCh37]
Chr14:14q32.11
likely pathogenic
NM_018319.4(TDP1):c.802C>G (p.Leu268Val) single nucleotide variant not provided [RCV001288866] Chr14:89980550 [GRCh38]
Chr14:90446894 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.346A>G (p.Ile116Val) single nucleotide variant not provided [RCV001288861] Chr14:89963460 [GRCh38]
Chr14:90429804 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.1701G>C (p.Met567Ile) single nucleotide variant not provided [RCV001288518] Chr14:90033162 [GRCh38]
Chr14:90499506 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.982A>G (p.Met328Val) single nucleotide variant not provided [RCV001288868] Chr14:89984613 [GRCh38]
Chr14:90450957 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.370G>A (p.Ala124Thr) single nucleotide variant not provided [RCV001288862] Chr14:89963484 [GRCh38]
Chr14:90429828 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.764T>G (p.Leu255Trp) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001334014] Chr14:89975788 [GRCh38]
Chr14:90442132 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.1776del (p.Pro593fs) deletion Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [RCV001334013] Chr14:90043091 [GRCh38]
Chr14:90509435 [GRCh37]
Chr14:14q32.11
pathogenic
NM_018319.4(TDP1):c.914T>C (p.Ile305Thr) single nucleotide variant not provided [RCV001288867] Chr14:89984545 [GRCh38]
Chr14:90450889 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.1383C>T (p.Pro461=) single nucleotide variant not provided [RCV001288516] Chr14:89991933 [GRCh38]
Chr14:90458277 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.1317G>T (p.Leu439Phe) single nucleotide variant not provided [RCV001288513] Chr14:89989090 [GRCh38]
Chr14:90455434 [GRCh37]
Chr14:14q32.11
uncertain significance
NM_018319.4(TDP1):c.585G>A (p.Thr195=) single nucleotide variant not provided [RCV001288864] Chr14:89966172 [GRCh38]
Chr14:90432516 [GRCh37]
Chr14:14q32.11
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18884 AgrOrtholog
COSMIC TDP1 COSMIC
Ensembl Genes ENSG00000042088 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000337353 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000377098 UniProtKB/TrEMBL
  ENSP00000377099 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000444587 UniProtKB/TrEMBL
  ENSP00000450628 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000450708 UniProtKB/TrEMBL
  ENSP00000450795 UniProtKB/TrEMBL
  ENSP00000450872 UniProtKB/TrEMBL
  ENSP00000451358 UniProtKB/TrEMBL
  ENSP00000451767 UniProtKB/TrEMBL
  ENSP00000452042 UniProtKB/TrEMBL
  ENSP00000452183 UniProtKB/TrEMBL
  ENSP00000452279 UniProtKB/TrEMBL
  ENSP00000452333 UniProtKB/TrEMBL
  ENSP00000452363 UniProtKB/TrEMBL
Ensembl Transcript ENST00000335725 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000393452 UniProtKB/TrEMBL
  ENST00000393454 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000545686 UniProtKB/TrEMBL
  ENST00000553527 UniProtKB/TrEMBL
  ENST00000553617 UniProtKB/TrEMBL
  ENST00000553989 UniProtKB/TrEMBL
  ENST00000554180 UniProtKB/TrEMBL
  ENST00000554976 UniProtKB/TrEMBL
  ENST00000555178 UniProtKB/TrEMBL
  ENST00000555880 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000556063 UniProtKB/TrEMBL
  ENST00000556498 UniProtKB/TrEMBL
  ENST00000556867 UniProtKB/TrEMBL
  ENST00000557782 UniProtKB/TrEMBL
Gene3D-CATH 3.30.870.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000042088 GTEx
HGNC ID HGNC:18884 ENTREZGENE
Human Proteome Map TDP1 Human Proteome Map
InterPro Tdp1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TDP_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55775 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 55775 ENTREZGENE
OMIM 607198 OMIM
  607250 OMIM
PANTHER PTHR12415 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Tyr-DNA_phospho UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA421 PharmGKB, RGD
UniProt A0A024R6L5 ENTREZGENE, UniProtKB/TrEMBL
  B3KN41 ENTREZGENE, UniProtKB/TrEMBL
  E7EPD8_HUMAN UniProtKB/TrEMBL
  G3V2F4 ENTREZGENE, UniProtKB/TrEMBL
  G3V2J6_HUMAN UniProtKB/TrEMBL
  G3V2U6_HUMAN UniProtKB/TrEMBL
  G3V3Q0_HUMAN UniProtKB/TrEMBL
  G3V4W8_HUMAN UniProtKB/TrEMBL
  G3V554_HUMAN UniProtKB/TrEMBL
  G3V5B8_HUMAN UniProtKB/TrEMBL
  G3V5F9_HUMAN UniProtKB/TrEMBL
  G3V5H9_HUMAN UniProtKB/TrEMBL
  H0YJ44_HUMAN UniProtKB/TrEMBL
  H0YJL7_HUMAN UniProtKB/TrEMBL
  Q32Q25_HUMAN UniProtKB/TrEMBL
  Q9BRS7_HUMAN UniProtKB/TrEMBL
  Q9NUW8 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q2HXX4 UniProtKB/Swiss-Prot
  Q86TV8 UniProtKB/Swiss-Prot
  Q96BK7 UniProtKB/Swiss-Prot
  Q9NZM7 UniProtKB/Swiss-Prot
  Q9NZM8 UniProtKB/Swiss-Prot