SETX (senataxin) - Rat Genome Database

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Gene: SETX (senataxin) Homo sapiens
Analyze
Symbol: SETX
Name: senataxin
RGD ID: 1347866
HGNC Page HGNC
Description: Exhibits identical protein binding activity and transcription termination site sequence-specific DNA binding activity. Involved in several processes, including intracellular signal transduction; nucleic acid metabolic process; and positive regulation of RNA metabolic process. Localizes to several cellular components, including growth cone; intercellular bridge; and nuclear lumen. Implicated in amyotrophic lateral sclerosis type 4 and ataxia with oculomotor apraxia type 2.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ALS4; amyotrophic lateral sclerosis 4; AOA2; bA479K20.2; DKFZp781B151; FLJ12840; FLJ43459; KIAA0625; probable helicase senataxin; SCAN2; SCAR1; Sen1; SEN1 homolog; spinocerebellar ataxia, recessive, non-Friedreich type 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 Ensembl9132,261,356 - 132,354,986 (-)EnsemblGRCh38hg38GRCh38
GRCh389132,261,356 - 132,356,726 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh379135,136,743 - 135,230,373 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369134,126,648 - 134,220,193 (-)NCBINCBI36hg18NCBI36
Build 349132,168,836 - 132,259,926NCBI
Celera9105,678,763 - 105,772,221 (-)NCBI
Cytogenetic Map9q34.13NCBI
HuRef9104,630,757 - 104,723,804 (-)NCBIHuRef
CHM1_19135,286,879 - 135,380,398 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal lower motor neuron morphology  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormal upper motor neuron morphology  (IAGP)
Amyotrophic lateral sclerosis  (IAGP)
Areflexia  (IAGP)
Ataxia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axonal degeneration  (IAGP)
Babinski sign  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar vermis atrophy  (IAGP)
Chorea  (IAGP)
Choreoathetosis  (IAGP)
Chronic axonal neuropathy  (IAGP)
Clonus  (IAGP)
Conjunctival telangiectasia  (IAGP)
Decreased motor nerve conduction velocity  (IAGP)
Degeneration of anterior horn cells  (IAGP)
Difficulty walking  (IAGP)
Diffuse axonal swelling  (IAGP)
Distal amyotrophy  (IAGP)
Distal muscle weakness  (IAGP)
Dysarthria  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
Elevated alpha-fetoprotein  (IAGP)
Elevated serum creatine kinase  (IAGP)
Gait ataxia  (IAGP)
Gait disturbance  (IAGP)
Gait imbalance  (IAGP)
Gaze-evoked nystagmus  (IAGP)
Head tremor  (IAGP)
Hypercholesterolemia  (IAGP)
Hyperreflexia  (IAGP)
Hypoalbuminemia  (IAGP)
Hyporeflexia  (IAGP)
Impaired distal tactile sensation  (IAGP)
Impaired distal vibration sensation  (IAGP)
Impaired proprioception  (IAGP)
Increased circulating antibody level  (IAGP)
Limb ataxia  (IAGP)
Nystagmus  (IAGP)
Oculomotor apraxia  (IAGP)
Pallor of dorsal columns of the spinal cord  (IAGP)
Peripheral axonal degeneration  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Pes cavus  (IAGP)
Polyneuropathy  (IAGP)
Pontocerebellar atrophy  (IAGP)
Postural tremor  (IAGP)
Progressive  (IAGP)
Progressive gait ataxia  (IAGP)
Proximal spinal muscular atrophy  (IAGP)
Saccadic smooth pursuit  (IAGP)
Scoliosis  (IAGP)
Sensorimotor neuropathy  (IAGP)
Sensory impairment  (IAGP)
Skeletal muscle atrophy  (IAGP)
Slowly progressive  (IAGP)
Spastic paraplegia  (IAGP)
Strabismus  (IAGP)
Tremor  (IAGP)
Urinary bladder sphincter dysfunction  (IAGP)
Variable expressivity  (IAGP)
References

Additional References at PubMed
PMID:8125298   PMID:8889548   PMID:9497266   PMID:9734811   PMID:11022012   PMID:12477932   PMID:14702039   PMID:14770181   PMID:15106121   PMID:15164053   PMID:15174051   PMID:15489334  
PMID:15732101   PMID:16344560   PMID:16524884   PMID:16717225   PMID:16964243   PMID:17081983   PMID:17096168   PMID:17562789   PMID:17593543   PMID:18350359   PMID:18405395   PMID:19058054  
PMID:19141356   PMID:19515850   PMID:19569000   PMID:19593598   PMID:19744353   PMID:20301317   PMID:20301333   PMID:20301623   PMID:20379614   PMID:20467437   PMID:20800603   PMID:20936779  
PMID:21112256   PMID:21190393   PMID:21324166   PMID:21576111   PMID:21700224   PMID:21873635   PMID:22088787   PMID:22577233   PMID:22980978   PMID:23129421   PMID:23149945   PMID:23566282  
PMID:23786967   PMID:23941260   PMID:24105744   PMID:24244371   PMID:24694197   PMID:24760770   PMID:25184681   PMID:25609649   PMID:25699710   PMID:25822250   PMID:25927548   PMID:26186194  
PMID:26231220   PMID:26496610   PMID:26561776   PMID:26700805   PMID:26871637   PMID:26972000   PMID:27197982   PMID:27591049   PMID:27634302   PMID:27644330   PMID:28065597   PMID:28245518  
PMID:28514442   PMID:29117863   PMID:29395064   PMID:29416069   PMID:29467282   PMID:29507755   PMID:29509190   PMID:29656893   PMID:29676528   PMID:29968717   PMID:30010942   PMID:30021884  
PMID:30052327   PMID:30220148   PMID:30389781   PMID:30523780   PMID:30745168   PMID:30804502   PMID:31010829   PMID:31048545   PMID:31527615   PMID:31586073   PMID:31743419   PMID:31957062  
PMID:32814053   PMID:33333218  


Genomics

Comparative Map Data
SETX
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl9132,261,356 - 132,354,986 (-)EnsemblGRCh38hg38GRCh38
GRCh389132,261,356 - 132,356,726 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh379135,136,743 - 135,230,373 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369134,126,648 - 134,220,193 (-)NCBINCBI36hg18NCBI36
Build 349132,168,836 - 132,259,926NCBI
Celera9105,678,763 - 105,772,221 (-)NCBI
Cytogenetic Map9q34.13NCBI
HuRef9104,630,757 - 104,723,804 (-)NCBIHuRef
CHM1_19135,286,879 - 135,380,398 (-)NCBICHM1_1
Setx
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39229,013,600 - 29,072,483 (+)NCBIGRCm39mm39
GRCm39 Ensembl229,014,193 - 29,072,483 (+)Ensembl
GRCm38229,123,588 - 29,182,471 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl229,124,181 - 29,182,471 (+)EnsemblGRCm38mm10GRCm38
MGSCv37228,980,512 - 29,037,991 (+)NCBIGRCm37mm9NCBIm37
MGSCv36228,976,093 - 29,004,480 (+)NCBImm8
Celera228,830,977 - 28,888,543 (+)NCBICelera
Cytogenetic Map2A3- BNCBI
Setx
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2312,428,091 - 12,480,801 (+)NCBI
Rnor_6.0 Ensembl37,686,503 - 7,730,539 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.037,680,430 - 7,731,815 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0313,029,002 - 13,080,379 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.438,113,749 - 8,156,463 (+)NCBIRGSC3.4rn4RGSC3.4
Celera37,210,020 - 7,259,874 (+)NCBICelera
Cytogenetic Map3p12NCBI
Setx
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555131,718,377 - 1,777,021 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555131,718,432 - 1,776,133 (-)NCBIChiLan1.0ChiLan1.0
SETX
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.19132,016,513 - 132,109,665 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9132,016,767 - 132,109,665 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v09103,381,356 - 103,474,902 (-)NCBIMhudiblu_PPA_v0panPan3
SETX
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1951,900,004 - 51,980,694 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl951,901,233 - 51,978,833 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha951,164,800 - 51,245,022 (+)NCBI
ROS_Cfam_1.0952,793,044 - 52,873,500 (+)NCBI
UMICH_Zoey_3.1951,573,459 - 51,653,339 (+)NCBI
UNSW_CanFamBas_1.0951,897,710 - 51,978,318 (+)NCBI
UU_Cfam_GSD_1.0951,983,718 - 52,064,342 (+)NCBI
Setx
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947199,087,545 - 199,175,658 (-)NCBI
SpeTri2.0NW_00493648718,858,384 - 18,945,253 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SETX
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1272,095,358 - 272,170,750 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11272,093,449 - 272,170,857 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21306,152,306 - 306,230,231 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SETX
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1125,773,122 - 5,872,372 (+)NCBI
ChlSab1.1 Ensembl125,773,165 - 5,875,481 (+)Ensembl
Setx
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247603,932,213 - 4,007,290 (+)NCBI

Position Markers
D9S1847  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379135,436,949 - 135,437,139UniSTSGRCh37
Build 369134,426,770 - 134,426,960RGDNCBI36
Celera9105,978,694 - 105,978,884RGD
Cytogenetic Map9q34.13UniSTS
HuRef9104,930,772 - 104,930,950UniSTS
Marshfield Genetic Map9144.67RGD
Marshfield Genetic Map9144.67UniSTS
Genethon Genetic Map9144.8UniSTS
deCODE Assembly Map9145.49UniSTS
GeneMap99-GB4 RH Map9407.14UniSTS
D9S1831  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379132,421,728 - 132,421,988UniSTSGRCh37
Build 369131,461,549 - 131,461,809RGDNCBI36
Celera9103,072,552 - 103,072,808RGD
Cytogenetic Map9q34.13UniSTS
HuRef9102,020,872 - 102,021,128UniSTS
Marshfield Genetic Map9143.06RGD
Marshfield Genetic Map9143.06UniSTS
Genethon Genetic Map9143.2UniSTS
TNG Radiation Hybrid Map949946.0UniSTS
SHGC-16732  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379135,136,887 - 135,137,026UniSTSGRCh37
Build 369134,126,708 - 134,126,847RGDNCBI36
Celera9105,678,823 - 105,678,962RGD
Cytogenetic Map9q34.13UniSTS
HuRef9104,630,817 - 104,630,956UniSTS
Stanford-G3 RH Map94791.0UniSTS
GeneMap99-G3 RH Map94689.0UniSTS
RH91796  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379135,139,342 - 135,139,499UniSTSGRCh37
Build 369134,129,163 - 134,129,320RGDNCBI36
Celera9105,681,278 - 105,681,435RGD
Cytogenetic Map9q34.13UniSTS
HuRef9104,633,272 - 104,633,429UniSTS
GeneMap99-GB4 RH Map9407.14UniSTS
D9S1073E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379135,138,324 - 135,138,405UniSTSGRCh37
Build 369134,128,145 - 134,128,226RGDNCBI36
Celera9105,680,260 - 105,680,341RGD
Cytogenetic Map9q34.13UniSTS
HuRef9104,632,254 - 104,632,335UniSTS
SHGC-149376  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379135,185,220 - 135,185,504UniSTSGRCh37
Build 369134,175,041 - 134,175,325RGDNCBI36
Celera9105,727,067 - 105,727,351RGD
Cytogenetic Map9q34.13UniSTS
HuRef9104,679,023 - 104,679,307UniSTS
WI-12222  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379135,139,335 - 135,139,440UniSTSGRCh37
Build 369134,129,156 - 134,129,261RGDNCBI36
Celera9105,681,271 - 105,681,376RGD
Cytogenetic Map9q34.13UniSTS
HuRef9104,633,265 - 104,633,370UniSTS
GeneMap99-GB4 RH Map9407.14UniSTS
Whitehead-RH Map9489.0UniSTS
A008M28  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379135,138,496 - 135,138,705UniSTSGRCh37
Build 369134,128,317 - 134,128,526RGDNCBI36
Celera9105,680,432 - 105,680,641RGD
Cytogenetic Map9q34.13UniSTS
HuRef9104,632,426 - 104,632,635UniSTS
GeneMap99-GB4 RH Map10541.46UniSTS
NCBI RH Map101346.6UniSTS
Cda1bc05  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379135,137,278 - 135,137,380UniSTSGRCh37
Build 369134,127,099 - 134,127,201RGDNCBI36
Celera9105,679,214 - 105,679,316RGD
Cytogenetic Map9q34.13UniSTS
HuRef9104,631,208 - 104,631,310UniSTS
GeneMap99-GB4 RH Map9405.53UniSTS
D9S164  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map9q34.13UniSTS
Marshfield Genetic Map9147.91UniSTS
Genethon Genetic Map9148.1UniSTS
deCODE Assembly Map9146.92UniSTS
Whitehead-YAC Contig Map9 UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6233
Count of miRNA genes:873
Interacting mature miRNAs:1019
Transcripts:ENST00000224140, ENST00000372169, ENST00000393220, ENST00000436441, ENST00000464133, ENST00000474172, ENST00000477049
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 2135 1877 1382 312 1561 185 3631 1116 1834 283 1402 1592 140 1180 2108 4
Low 304 1114 344 311 390 280 726 1081 1898 136 58 21 35 1 24 680 2 1
Below cutoff 1 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001351527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001351528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001746251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_929739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA609547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB014525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI123313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK226007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL159997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY362728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC078166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC106017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC137350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM718142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX538166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA794966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA989674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000224140   ⟹   ENSP00000224140
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9132,261,356 - 132,354,986 (-)Ensembl
RefSeq Acc Id: ENST00000436441   ⟹   ENSP00000409143
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9132,261,356 - 132,311,856 (-)Ensembl
RefSeq Acc Id: ENST00000464133
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9132,274,923 - 132,278,109 (-)Ensembl
RefSeq Acc Id: ENST00000474172
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9132,282,770 - 132,286,497 (-)Ensembl
RefSeq Acc Id: ENST00000477049
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9132,261,356 - 132,275,382 (-)Ensembl
RefSeq Acc Id: NM_001351527   ⟹   NP_001338456
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,261,356 - 132,354,856 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001351528   ⟹   NP_001338457
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,261,356 - 132,354,986 (-)NCBI
Sequence:
RefSeq Acc Id: NM_015046   ⟹   NP_055861
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,261,356 - 132,354,986 (-)NCBI
GRCh379135,136,827 - 135,232,113 (-)NCBI
Build 369134,126,648 - 134,220,193 (-)NCBI Archive
HuRef9104,630,757 - 104,723,804 (-)ENTREZGENE
CHM1_19135,286,879 - 135,380,398 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005272172   ⟹   XP_005272229
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,264,239 - 132,356,726 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005272173   ⟹   XP_005272230
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,264,239 - 132,354,856 (-)NCBI
GRCh379135,136,827 - 135,232,113 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518404   ⟹   XP_011516706
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,264,239 - 132,356,117 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518405   ⟹   XP_011516707
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,264,239 - 132,354,864 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518406   ⟹   XP_011516708
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,269,723 - 132,354,986 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518407   ⟹   XP_011516709
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,274,696 - 132,354,986 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518408   ⟹   XP_011516710
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,281,505 - 132,354,986 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014496   ⟹   XP_016869985
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,261,440 - 132,327,077 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001746251
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,261,443 - 132,354,986 (-)NCBI
Sequence:
RefSeq Acc Id: XR_929739
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,261,443 - 132,354,986 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001338456 (Get FASTA)   NCBI Sequence Viewer  
  NP_001338457 (Get FASTA)   NCBI Sequence Viewer  
  NP_055861 (Get FASTA)   NCBI Sequence Viewer  
  XP_005272229 (Get FASTA)   NCBI Sequence Viewer  
  XP_005272230 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516706 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516707 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516708 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516709 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516710 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869985 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH32600 (Get FASTA)   NCBI Sequence Viewer  
  AAH32622 (Get FASTA)   NCBI Sequence Viewer  
  AAH78166 (Get FASTA)   NCBI Sequence Viewer  
  AAI06018 (Get FASTA)   NCBI Sequence Viewer  
  AAI37351 (Get FASTA)   NCBI Sequence Viewer  
  AAR13367 (Get FASTA)   NCBI Sequence Viewer  
  ALQ34017 (Get FASTA)   NCBI Sequence Viewer  
  ALQ34018 (Get FASTA)   NCBI Sequence Viewer  
  BAA31600 (Get FASTA)   NCBI Sequence Viewer  
  BAA91701 (Get FASTA)   NCBI Sequence Viewer  
  BAB14299 (Get FASTA)   NCBI Sequence Viewer  
  BAC86166 (Get FASTA)   NCBI Sequence Viewer  
  BAG63708 (Get FASTA)   NCBI Sequence Viewer  
  CAD97857 (Get FASTA)   NCBI Sequence Viewer  
  CAD98045 (Get FASTA)   NCBI Sequence Viewer  
  CAH18105 (Get FASTA)   NCBI Sequence Viewer  
  EAW87997 (Get FASTA)   NCBI Sequence Viewer  
  EAW87998 (Get FASTA)   NCBI Sequence Viewer  
  EAW87999 (Get FASTA)   NCBI Sequence Viewer  
  EAW88000 (Get FASTA)   NCBI Sequence Viewer  
  Q7Z333 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_055861   ⟸   NM_015046
- Peptide Label: isoform 1
- UniProtKB: Q7Z333 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005272229   ⟸   XM_005272172
- Peptide Label: isoform X1
- UniProtKB: Q7Z333 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005272230   ⟸   XM_005272173
- Peptide Label: isoform X1
- UniProtKB: Q7Z333 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011516706   ⟸   XM_011518404
- Peptide Label: isoform X1
- UniProtKB: Q7Z333 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011516707   ⟸   XM_011518405
- Peptide Label: isoform X1
- UniProtKB: Q7Z333 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011516708   ⟸   XM_011518406
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011516709   ⟸   XM_011518407
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011516710   ⟸   XM_011518408
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016869985   ⟸   XM_017014496
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: NP_001338457   ⟸   NM_001351528
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_001338456   ⟸   NM_001351527
- Peptide Label: isoform 1
- Sequence:
RefSeq Acc Id: ENSP00000224140   ⟸   ENST00000224140
RefSeq Acc Id: ENSP00000409143   ⟸   ENST00000436441
Protein Domains
AAA_11   AAA_12

Promoters
RGD ID:7216453
Promoter ID:EPDNEW_H13972
Type:initiation region
Name:SETX_1
Description:senataxin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13973  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,354,986 - 132,355,046EPDNEW
RGD ID:7216455
Promoter ID:EPDNEW_H13973
Type:initiation region
Name:SETX_2
Description:senataxin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13972  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,356,718 - 132,356,778EPDNEW
RGD ID:6808211
Promoter ID:HG_KWN:65385
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:OTTHUMT00000054776
Position:
Human AssemblyChrPosition (strand)Source
Build 369134,141,091 - 134,141,591 (-)MPROMDB
RGD ID:6808212
Promoter ID:HG_KWN:65386
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000054777
Position:
Human AssemblyChrPosition (strand)Source
Build 369134,143,366 - 134,144,267 (-)MPROMDB
RGD ID:6808213
Promoter ID:HG_KWN:65387
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000054778
Position:
Human AssemblyChrPosition (strand)Source
Build 369134,151,766 - 134,152,266 (-)MPROMDB
RGD ID:6808209
Promoter ID:HG_KWN:65388
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000054775
Position:
Human AssemblyChrPosition (strand)Source
Build 369134,177,271 - 134,177,867 (-)MPROMDB
RGD ID:6808216
Promoter ID:HG_KWN:65389
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Jurkat,   K562,   Lymphoblastoid
Transcripts:UC004CBJ.1,   UC010MZT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 369134,191,796 - 134,196,267 (-)MPROMDB
RGD ID:6814428
Promoter ID:HG_MGC:999
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:BC137350
Position:
Human AssemblyChrPosition (strand)Source
Build 369134,219,024 - 134,219,524 (-)MPROMDB
RGD ID:6808214
Promoter ID:HG_KWN:65390
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:ENST00000372169,   ENST00000393220,   OTTHUMT00000054774
Position:
Human AssemblyChrPosition (strand)Source
Build 369134,219,904 - 134,220,404 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_015046.7(SETX):c.4563A>G (p.Glu1521=) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000542139] Chr9:132327035 [GRCh38]
Chr9:135202422 [GRCh37]
Chr9:9q34.13
likely benign
NM_015046.7(SETX):c.3029G>A (p.Arg1010His) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV001306845]|not provided [RCV000521273] Chr9:132328569 [GRCh38]
Chr9:135203956 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.4217C>G (p.Ala1406Gly) single nucleotide variant not specified [RCV000517431] Chr9:132327381 [GRCh38]
Chr9:135202768 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.5547_5548+2del microsatellite not provided [RCV000517126] Chr9:132300628..132300631 [GRCh38]
Chr9:135176015..135176018 [GRCh37]
Chr9:9q34.13
pathogenic
NM_015046.7(SETX):c.7288-2A>G single nucleotide variant not provided [RCV000517396] Chr9:132264987 [GRCh38]
Chr9:135140374 [GRCh37]
Chr9:9q34.13
likely pathogenic
NM_015046.7(SETX):c.33T>C (p.Gly11=) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000546405] Chr9:132349396 [GRCh38]
Chr9:135224783 [GRCh37]
Chr9:9q34.13
likely benign
NM_015046.7(SETX):c.6654+1G>A single nucleotide variant not provided [RCV000518151] Chr9:132281466 [GRCh38]
Chr9:135156853 [GRCh37]
Chr9:9q34.13
likely pathogenic
NM_015046.7(SETX):c.654G>C (p.Lys218Asn) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000535102]|Amyotrophic lateral sclerosis type 4 [RCV001166018]|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV001166019]|not provided [RCV001311799]|not specified [RCV000516905] Chr9:132336360 [GRCh38]
Chr9:135211747 [GRCh37]
Chr9:9q34.13
likely benign|uncertain significance
NM_015046.7(SETX):c.1729A>T (p.Thr577Ser) single nucleotide variant not specified [RCV000518536] Chr9:132329869 [GRCh38]
Chr9:135205256 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.2113A>C (p.Ile705Leu) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000549702]|not specified [RCV000518054] Chr9:132329485 [GRCh38]
Chr9:135204872 [GRCh37]
Chr9:9q34.13
benign
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000550269]|Amyotrophic lateral sclerosis type 4 [RCV001165737]|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV001167321]|not provided [RCV000518326] Chr9:132327165 [GRCh38]
Chr9:135202552 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.4436C>T (p.Ala1479Val) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000525003] Chr9:132327162 [GRCh38]
Chr9:135202549 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.5804A>G (p.Asn1935Ser) single nucleotide variant not specified [RCV000518592] Chr9:132297032 [GRCh38]
Chr9:135172419 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.68C>T (p.Ser23Phe) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000547708] Chr9:132349361 [GRCh38]
Chr9:135224748 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.3057_3059TGA[5] (p.Asp1024del) microsatellite Amyotrophic lateral sclerosis type 4 [RCV000791112]|not provided [RCV000762581]|not specified [RCV000517712] Chr9:132328524..132328526 [GRCh38]
Chr9:135203911..135203913 [GRCh37]
Chr9:9q34.13
benign|uncertain significance
NM_015046.7(SETX):c.7100+9T>C single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV001087251]|Amyotrophic lateral sclerosis type 4 [RCV001165603]|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV001165604]|not provided [RCV000713230] Chr9:132275247 [GRCh38]
Chr9:135150634 [GRCh37]
Chr9:9q34.13
benign|likely benign|uncertain significance
NM_015046.7(SETX):c.2395C>T (p.His799Tyr) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000551603]|not specified [RCV000517993] Chr9:132329203 [GRCh38]
Chr9:135204590 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.1427_1432del (p.His476_Leu477del) deletion Amyotrophic lateral sclerosis type 4 [RCV001229711]|none provided [RCV001285065]|not specified [RCV000518598] Chr9:132330166..132330171 [GRCh38]
Chr9:135205553..135205558 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.4197A>G (p.Thr1399=) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV001085153]|Amyotrophic lateral sclerosis type 4 [RCV001167323]|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV001167324]|not provided [RCV000542207] Chr9:132327401 [GRCh38]
Chr9:135202788 [GRCh37]
Chr9:9q34.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015046.7(SETX):c.172C>T (p.His58Tyr) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV001049138]|not specified [RCV000516965] Chr9:132349257 [GRCh38]
Chr9:135224644 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.3456T>G (p.Phe1152Leu) single nucleotide variant not specified [RCV000517583] Chr9:132328142 [GRCh38]
Chr9:135203529 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.4711G>A (p.Val1571Met) single nucleotide variant Hereditary spastic paraplegia [RCV000516100] Chr9:132326887 [GRCh38]
Chr9:135202274 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.1626C>T (p.Leu542=) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000548655] Chr9:132329972 [GRCh38]
Chr9:135205359 [GRCh37]
Chr9:9q34.13
likely benign
NM_015046.7(SETX):c.1690T>G (p.Leu564Val) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000695046]|not specified [RCV000518116] Chr9:132329908 [GRCh38]
Chr9:135205295 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.6112T>C (p.Cys2038Arg) single nucleotide variant not specified [RCV000516336] Chr9:132288646 [GRCh38]
Chr9:135164033 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.2749A>G (p.Met917Val) single nucleotide variant not specified [RCV000516419] Chr9:132328849 [GRCh38]
Chr9:135204236 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.7163C>T (p.Thr2388Met) single nucleotide variant not specified [RCV000516483] Chr9:132271746 [GRCh38]
Chr9:135147133 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.5294A>G (p.Asn1765Ser) single nucleotide variant not provided [RCV000518457] Chr9:132311837 [GRCh38]
Chr9:135187224 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.7200-16dup duplication Amyotrophic lateral sclerosis type 4 [RCV001079150]|not provided [RCV000555232] Chr9:132269711..132269712 [GRCh38]
Chr9:135145098..135145099 [GRCh37]
Chr9:9q34.13
benign|likely benign
NM_015046.7(SETX):c.7590T>A (p.Pro2530=) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000544597] Chr9:132264683 [GRCh38]
Chr9:135140070 [GRCh37]
Chr9:9q34.13
likely benign
NM_015046.7(SETX):c.717A>G (p.Leu239=) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV001079845]|not provided [RCV000542634] Chr9:132336297 [GRCh38]
Chr9:135211684 [GRCh37]
Chr9:9q34.13
benign|likely benign|uncertain significance
NM_015046.7(SETX):c.4903T>A (p.Leu1635Met) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000545900] Chr9:132326695 [GRCh38]
Chr9:135202082 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.5375-18CTT[2] microsatellite Amyotrophic lateral sclerosis type 4 [RCV001080348]|none provided [RCV001286502]|not provided [RCV000546960] Chr9:132300813..132300815 [GRCh38]
Chr9:135176200..135176202 [GRCh37]
Chr9:9q34.13
benign
NM_015046.7(SETX):c.3813A>G (p.Pro1271=) single nucleotide variant not provided [RCV000548328] Chr9:132327785 [GRCh38]
Chr9:135203172 [GRCh37]
Chr9:9q34.13
likely benign
NM_015046.7(SETX):c.5998C>G (p.Gln2000Glu) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000644817]|not specified [RCV000517194] Chr9:132295980 [GRCh38]
Chr9:135171367 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.2390A>G (p.Lys797Arg) single nucleotide variant not specified [RCV000517242] Chr9:132329208 [GRCh38]
Chr9:135204595 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.5591_5592del (p.Gln1864fs) deletion not provided [RCV000517704] Chr9:132298269..132298270 [GRCh38]
Chr9:135173656..135173657 [GRCh37]
Chr9:9q34.13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000560688]|Amyotrophic lateral sclerosis type 4 [RCV001169792]|Hereditary spastic paraplegia [RCV000515884]|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV001169791]|not provided [RCV000859602] Chr9:132327772 [GRCh38]
Chr9:135203159 [GRCh37]
Chr9:9q34.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV001082564]|Amyotrophic lateral sclerosis type 4 [RCV001168005]|Hereditary spastic paraplegia [RCV000515959]|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV001167391]|none provided [RCV001285528]|not provided [RCV000517650]|not specified [RCV001283502] Chr9:132328369 [GRCh38]
Chr9:135203756 [GRCh37]
Chr9:9q34.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015046.7(SETX):c.2329A>G (p.Lys777Glu) single nucleotide variant not specified [RCV000516488] Chr9:132329269 [GRCh38]
Chr9:135204656 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.3221A>G (p.Glu1074Gly) single nucleotide variant not specified [RCV000516544] Chr9:132328377 [GRCh38]
Chr9:135203764 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.4045C>G (p.Gln1349Glu) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000644816]|not specified [RCV000518088] Chr9:132327553 [GRCh38]
Chr9:135202940 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.7738G>A (p.Val2580Ile) single nucleotide variant not specified [RCV000518348] Chr9:132264535 [GRCh38]
Chr9:135139922 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.4113A>G (p.Thr1371=) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000525365] Chr9:132327485 [GRCh38]
Chr9:135202872 [GRCh37]
Chr9:9q34.13
likely benign
NM_015046.7(SETX):c.5501A>G (p.His1834Arg) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV001246159]|not specified [RCV000517645] Chr9:132300677 [GRCh38]
Chr9:135176064 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000524648]|not provided [RCV000518213] Chr9:132271770 [GRCh38]
Chr9:135147157 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.3023C>G (p.Thr1008Ser) single nucleotide variant not specified [RCV000518181] Chr9:132328575 [GRCh38]
Chr9:135203962 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.4087C>T (p.Arg1363Ter) single nucleotide variant Inborn genetic diseases [RCV000622386]|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV000002374] Chr9:132327511 [GRCh38]
Chr9:135202898 [GRCh37]
Chr9:9q34.13
pathogenic
NM_015046.7(SETX):c.2602C>T (p.Gln868Ter) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV000002375] Chr9:132328996 [GRCh38]
Chr9:135204383 [GRCh37]
Chr9:9q34.13
pathogenic
NM_015046.7(SETX):c.6638C>T (p.Pro2213Leu) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV000002376] Chr9:132281483 [GRCh38]
Chr9:135156870 [GRCh37]
Chr9:9q34.13
pathogenic
NM_015046.7(SETX):c.2967_2971del (p.Arg989fs) deletion Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV000002377] Chr9:132328627..132328631 [GRCh38]
Chr9:135204014..135204018 [GRCh37]
Chr9:9q34.13
pathogenic
NM_015046.7(SETX):c.994C>T (p.Arg332Trp) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV000002378]|not provided [RCV000269785] Chr9:132331293 [GRCh38]
Chr9:135206680 [GRCh37]
Chr9:9q34.13
pathogenic
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000002379]|Amyotrophic lateral sclerosis type 4 [RCV000644828]|Distal spinal muscular atrophy [RCV000789615]|not provided [RCV000724322] Chr9:132330432 [GRCh38]
Chr9:135205819 [GRCh37]
Chr9:9q34.13
pathogenic|uncertain significance
NM_015046.7(SETX):c.8C>T (p.Thr3Ile) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000002380]|Distal spinal muscular atrophy [RCV000789614]|not provided [RCV000414273] Chr9:132349421 [GRCh38]
Chr9:135224808 [GRCh37]
Chr9:9q34.13
pathogenic|likely pathogenic|uncertain significance
NM_015046.7(SETX):c.6407G>A (p.Arg2136His) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000002381]|Distal spinal muscular atrophy [RCV000789616] Chr9:132283403 [GRCh38]
Chr9:135158790 [GRCh37]
Chr9:9q34.13
pathogenic|uncertain significance
NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV000002382] Chr9:132296909 [GRCh38]
Chr9:135172296 [GRCh37]
Chr9:9q34.13
pathogenic
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV000002385]|not provided [RCV001288413] Chr9:132296907 [GRCh38]
Chr9:135172294 [GRCh37]
Chr9:9q34.13
pathogenic|likely pathogenic
NM_015046.7(SETX):c.1027G>T (p.Glu343Ter) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV000002386] Chr9:132331123 [GRCh38]
Chr9:135206510 [GRCh37]
Chr9:9q34.13
pathogenic
NM_015046.7(SETX):c.340_342CTT[1] (p.Leu115del) microsatellite Inborn genetic diseases [RCV000624514]|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV000002387] Chr9:132346304..132346306 [GRCh38]
Chr9:135221691..135221693 [GRCh37]
Chr9:9q34.13
pathogenic|likely pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 copy number gain See cases [RCV000051009] Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 copy number gain See cases [RCV000051040] Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q34.13(chr9:131702422-132271840)x3 copy number gain See cases [RCV000052258] Chr9:131702422..132271840 [GRCh38]
Chr9:134577809..135147227 [GRCh37]
Chr9:133567630..134137048 [NCBI36]
Chr9:9q34.13
uncertain significance
GRCh38/hg38 9q34.11-34.13(chr9:129949815-132342490)x1 copy number loss See cases [RCV000052935] Chr9:129949815..132342490 [GRCh38]
Chr9:132712094..135217877 [GRCh37]
Chr9:131751915..134207698 [NCBI36]
Chr9:9q34.11-34.13
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3 copy number gain See cases [RCV000053779] Chr9:129068560..136495351 [GRCh38]
Chr9:131830839..139389803 [GRCh37]
Chr9:130870660..138509624 [NCBI36]
Chr9:9q34.11-34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.13-34.2(chr9:131406683-133852779)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053812]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053812]|See cases [RCV000053812] Chr9:131406683..133852779 [GRCh38]
Chr9:134282070..136717901 [GRCh37]
Chr9:133271891..135707722 [NCBI36]
Chr9:9q34.13-34.2
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
NM_015046.5(SETX):c.5974G>A (p.Glu1992Lys) single nucleotide variant Malignant melanoma [RCV000068566] Chr9:132296004 [GRCh38]
Chr9:135171391 [GRCh37]
Chr9:134161212 [NCBI36]
Chr9:9q34.13
not provided
NM_015046.5(SETX):c.814C>T (p.His272Tyr) single nucleotide variant Malignant melanoma [RCV000061901] Chr9:132334632 [GRCh38]
Chr9:135210019 [GRCh37]
Chr9:134199840 [NCBI36]
Chr9:9q34.13
not provided
NM_015046.7(SETX):c.1077T>C (p.Tyr359=) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000381219]|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV000324127]|not provided [RCV000713195]|not specified [RCV000081691] Chr9:132331073 [GRCh38]
Chr9:135206460 [GRCh37]
Chr9:9q34.13
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_015046.7(SETX):c.1979C>G (p.Ala660Gly) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000309491]|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV000366991]|not provided [RCV000576827]|not specified [RCV000081692] Chr9:132329619 [GRCh38]
Chr9:135205006 [GRCh37]
Chr9:9q34.13
benign
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000398565]|Amyotrophic lateral sclerosis type 4 [RCV000576443]|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV000335767]|none provided [RCV001283235]|not specified [RCV000081693] Chr9:132328143 [GRCh38]
Chr9:135203530 [GRCh37]
Chr9:9q34.13
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000278408]|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV000389540]|none provided [RCV001282572]|not provided [RCV000713208]|not specified [RCV000081694] Chr9:132328022 [GRCh38]
Chr9:135203409 [GRCh37]
Chr9:9q34.13
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000988271]|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV000351274]|none provided [RCV001282571]|not provided [RCV000713210]|not specified [RCV000081695] Chr9:132327844 [GRCh38]
Chr9:135203231 [GRCh37]
Chr9:9q34.13
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000391406]|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV000298134]|not provided [RCV000713212]|not specified [RCV000081696] Chr9:132327442 [GRCh38]
Chr9:135202829 [GRCh37]
Chr9:9q34.13
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_015046.7(SETX):c.5374+16C>T single nucleotide variant not specified [RCV000081697] Chr9:132311741 [GRCh38]
Chr9:135187128 [GRCh37]
Chr9:9q34.13
benign
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000316637]|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV000355097]|not provided [RCV000713221]|not specified [RCV000081698] Chr9:132298298 [GRCh38]
Chr9:135173685 [GRCh37]
Chr9:9q34.13
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_015046.7(SETX):c.5781+12dup duplication Amyotrophic Lateral Sclerosis, Dominant [RCV000278002]|Ataxia with Oculomotor Apraxia [RCV000370219]|not specified [RCV000081699] Chr9:132298067..132298068 [GRCh38]
Chr9:135173454..135173455 [GRCh37]
Chr9:9q34.13
benign
NM_015046.7(SETX):c.5811T>C (p.Asp1937=) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000312972]|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV000407219]|not provided [RCV000713223]|not specified [RCV000081700] Chr9:132297025 [GRCh38]
Chr9:135172412 [GRCh37]
Chr9:9q34.13
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_015046.5(SETX):c.6848_6851delCAGA (p.Thr2283Lysfs) microsatellite Amyotrophic lateral sclerosis type 4 [RCV000686045]|Amyotrophic lateral sclerosis type 4 [RCV000988267]|not provided [RCV000176318] Chr9:132277144..132277147 [GRCh38]
Chr9:135152531..135152534 [GRCh37]
Chr9:9q34.13
pathogenic|likely pathogenic
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000388921]|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV000294610]|not provided [RCV000713232]|not specified [RCV000081702] Chr9:132264514 [GRCh38]
Chr9:135139901 [GRCh37]
Chr9:9q34.13
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_015046.7(SETX):c.3147C>T (p.His1049=) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000268689]|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV000361004]|not provided [RCV000713202]|not specified [RCV000173867] Chr9:132328451 [GRCh38]
Chr9:135203838 [GRCh37]
Chr9:9q34.13
benign|likely benign
NM_015046.7(SETX):c.3075_3076insTGA (p.Arg1026Ter) insertion Charcot-Marie-Tooth disease [RCV000657160] Chr9:132328522..132328523 [GRCh38]
Chr9:135203909..135203910 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000264707]|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV000324607]|not provided [RCV000713233]|not specified [RCV000176675] Chr9:132264439 [GRCh38]
Chr9:135139826 [GRCh37]
Chr9:9q34.13
benign
NM_015046.7(SETX):c.7967A>G (p.Asn2656Ser) single nucleotide variant none provided [RCV001285752] Chr9:132264306 [GRCh38]
Chr9:135139693 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000626102]|Charcot-Marie-Tooth disease [RCV000790203]|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV000791025]|not provided [RCV000143813] Chr9:132330094 [GRCh38]
Chr9:135205481 [GRCh37]
Chr9:9q34.13
likely pathogenic|uncertain significance
NM_015046.7(SETX):c.1869A>C (p.Glu623Asp) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000794428]|not provided [RCV000143814] Chr9:132329729 [GRCh38]
Chr9:135205116 [GRCh37]
Chr9:9q34.13
benign|uncertain significance
NM_015046.7(SETX):c.3968G>A (p.Arg1323Gln) single nucleotide variant not provided [RCV000143815]|not specified [RCV000517014] Chr9:132327630 [GRCh38]
Chr9:135203017 [GRCh37]
Chr9:9q34.13
benign|uncertain significance
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000988270]|Amyotrophic lateral sclerosis type 4 [RCV001041860]|Charcot-Marie-Tooth disease [RCV000790204]|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV001167322]|not provided [RCV000143816]|not specified [RCV001002069] Chr9:132327373 [GRCh38]
Chr9:135202760 [GRCh37]
Chr9:9q34.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000988269]|Amyotrophic lateral sclerosis type 4 [RCV001049421]|Charcot-Marie-Tooth disease [RCV000790205]|not provided [RCV000143817] Chr9:132327325 [GRCh38]
Chr9:135202712 [GRCh37]
Chr9:9q34.13
benign|likely benign|uncertain significance
NM_015046.7(SETX):c.7432A>C (p.Thr2478Pro) single nucleotide variant not provided [RCV000143818] Chr9:132264841 [GRCh38]
Chr9:135140228 [GRCh37]
Chr9:9q34.13
benign
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) single nucleotide variant Amyotrophic lateral sclerosis [RCV001260210]|Amyotrophic lateral sclerosis type 4 [RCV000302102]|Amyotrophic lateral sclerosis type 4 [RCV001080640]|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV000393538]|not provided [RCV000143819]|not specified [RCV000251546] Chr9:132264633 [GRCh38]
Chr9:135140020 [GRCh37]
Chr9:9q34.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015046.7(SETX):c.6935+1G>A single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV001333804] Chr9:132277059 [GRCh38]
Chr9:135152446 [GRCh37]
Chr9:9q34.13
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_015046.7(SETX):c.6792A>G (p.Ile2264Met) single nucleotide variant Charcot-Marie-Tooth disease [RCV000144866] Chr9:132278120 [GRCh38]
Chr9:135153507 [GRCh37]
Chr9:9q34.13
uncertain significance
GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3 copy number gain See cases [RCV000133778] Chr9:130513207..138124532 [GRCh38]
Chr9:133388594..141018984 [GRCh37]
Chr9:132378415..140138805 [NCBI36]
Chr9:9q34.11-34.3
pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3 copy number gain See cases [RCV000134916] Chr9:129068560..138179445 [GRCh38]
Chr9:131830839..141073897 [GRCh37]
Chr9:130870660..140193718 [NCBI36]
Chr9:9q34.11-34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 copy number gain See cases [RCV000134920] Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_015046.7(SETX):c.5222dup (p.Asp1742fs) duplication Cerebellar ataxia [RCV000162115]|not provided [RCV000516643] Chr9:132326375..132326376 [GRCh38]
Chr9:135201762..135201763 [GRCh37]
Chr9:9q34.13
pathogenic|likely pathogenic
NM_015046.5(SETX):c.5816_5830delAGAAAGCAATAGAAAinsAGAAA (p.Ala1941Leufs) indel Spinocerebellar ataxia autosomal recessive 1 [RCV000194088] Chr9:132297006..132297020 [GRCh38]
Chr9:135172393..135172407 [GRCh37]
Chr9:9q34.13
pathogenic
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs) deletion Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV000191126] Chr9:132297006..132297015 [GRCh38]
Chr9:135172393..135172402 [GRCh37]
Chr9:9q34.13
pathogenic
NM_015046.7(SETX):c.6038T>G (p.Val2013Gly) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV000191127] Chr9:132295940 [GRCh38]
Chr9:135171327 [GRCh37]
Chr9:9q34.13
likely pathogenic
NM_015046.7(SETX):c.4816C>T (p.Arg1606Ter) single nucleotide variant not provided [RCV000364271] Chr9:132326782 [GRCh38]
Chr9:135202169 [GRCh37]
Chr9:9q34.13
pathogenic
NM_015046.7(SETX):c.5306_5307GA[1] (p.Glu1770fs) microsatellite Amyotrophic lateral sclerosis [RCV001260555]|Cerebellar ataxia [RCV000850075]|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV000664235]|not provided [RCV000516701] Chr9:132311820..132311823 [GRCh38]
Chr9:135187207..135187210 [GRCh37]
Chr9:9q34.13
pathogenic|likely pathogenic
NM_015046.7(SETX):c.3350C>T (p.Thr1117Ile) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV001212840]|not provided [RCV000713206] Chr9:132328248 [GRCh38]
Chr9:135203635 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV001169728]|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV001165734]|not provided [RCV000713215] Chr9:132326926 [GRCh38]
Chr9:135202313 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.6322C>T (p.Gln2108Ter) single nucleotide variant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV000235070] Chr9:132288238 [GRCh38]
Chr9:135163625 [GRCh37]
Chr9:9q34.13
pathogenic
NM_015046.7(SETX):c.7708_7710CCT[1] (p.Pro2571del) microsatellite Amyotrophic lateral sclerosis type 4 [RCV000544223]|not provided [RCV000517452] Chr9:132264560..132264562 [GRCh38]
Chr9:135139947..135139949 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000329054]|Amyotrophic lateral sclerosis type 4 [RCV001084313]|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV000385882]|not provided [RCV000644851] Chr9:132327789 [GRCh38]
Chr9:135203176 [GRCh37]
Chr9:9q34.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015046.7(SETX):c.59G>A (p.Arg20His) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000327408]|Amyotrophic lateral sclerosis type 4 [RCV000551163]|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV000363505]|none provided [RCV001282622]|not specified [RCV000507126] Chr9:132349370 [GRCh38]
Chr9:135224757 [GRCh37]
Chr9:9q34.13
benign|likely benign
NM_015046.7(SETX):c.3162_3167del (p.Asn1054_Ser1055del) deletion Amyotrophic lateral sclerosis type 4 [RCV000545338] Chr9:132328431..132328436 [GRCh38]
Chr9:135203818..135203823 [GRCh37]
Chr9:9q34.13
likely benign
NM_015046.7(SETX):c.7490G>A (p.Ser2497Asn) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000531955]|not specified [RCV000516539] Chr9:132264783 [GRCh38]
Chr9:135140170 [GRCh37]
Chr9:9q34.13
likely benign|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_015046.7(SETX):c.243del (p.Ile81fs) deletion not provided [RCV000519508] Chr9:132346406 [GRCh38]
Chr9:135221793 [GRCh37]
Chr9:9q34.13
pathogenic
NM_015046.7(SETX):c.1034A>G (p.Tyr345Cys) single nucleotide variant Inborn genetic diseases [RCV000622726] Chr9:132331116 [GRCh38]
Chr9:135206503 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.3602T>C (p.Ile1201Thr) single nucleotide variant not specified [RCV000518640] Chr9:132327996 [GRCh38]
Chr9:135203383 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.719-40T>G single nucleotide variant not specified [RCV000246799] Chr9:132334767 [GRCh38]
Chr9:135210154 [GRCh37]
Chr9:9q34.13
likely benign
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000402230]|Amyotrophic lateral sclerosis type 4 [RCV001082247]|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV000291226]|none provided [RCV001283461]|not provided [RCV000757758]|not specified [RCV000249296] Chr9:132326938 [GRCh38]
Chr9:135202325 [GRCh37]
Chr9:9q34.13
benign|likely benign
NM_015046.7(SETX):c.3090T>C (p.Leu1030=) single nucleotide variant not provided [RCV000878719]|not specified [RCV000242019] Chr9:132328508 [GRCh38]
Chr9:135203895 [GRCh37]
Chr9:9q34.13
likely benign
NM_015046.7(SETX):c.6546+32T>A single nucleotide variant not specified [RCV000247371] Chr9:132283232 [GRCh38]
Chr9:135158619 [GRCh37]
Chr9:9q34.13
benign
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000644833]|not provided [RCV001311797]|not specified [RCV000517441] Chr9:132328582 [GRCh38]
Chr9:135203969 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.6507G>A (p.Gly2169=) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000285100]|Amyotrophic lateral sclerosis type 4 [RCV000527335]|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV000400042]|none provided [RCV001285347]|not specified [RCV000242598] Chr9:132283303 [GRCh38]
Chr9:135158690 [GRCh37]
Chr9:9q34.13
benign|likely benign
NM_015046.7(SETX):c.3345C>G (p.Ala1115=) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV001085624]|not provided [RCV001311796]|not specified [RCV000252372] Chr9:132328253 [GRCh38]
Chr9:135203640 [GRCh37]
Chr9:9q34.13
benign|likely benign
NM_015046.7(SETX):c.2842C>A (p.Pro948Thr) single nucleotide variant not specified [RCV000517506] Chr9:132328756 [GRCh38]
Chr9:135204143 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000274061]|Amyotrophic lateral sclerosis type 4 [RCV000553059]|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV000333920]|not specified [RCV000242830] Chr9:132271795 [GRCh38]
Chr9:135147182 [GRCh37]
Chr9:9q34.13
benign|likely benign
NM_015046.7(SETX):c.5950-14G>A single nucleotide variant not specified [RCV000245256] Chr9:132296042 [GRCh38]
Chr9:135171429 [GRCh37]
Chr9:9q34.13
likely benign
NM_015046.7(SETX):c.7905C>T (p.Ala2635=) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000549819]|none provided [RCV001287298] Chr9:132264368 [GRCh38]
Chr9:135139755 [GRCh37]
Chr9:9q34.13
benign
NM_015046.7(SETX):c.6936-27T>G single nucleotide variant not specified [RCV000247913] Chr9:132275447 [GRCh38]
Chr9:135150834 [GRCh37]
Chr9:9q34.13
benign
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000387370]|Amyotrophic lateral sclerosis type 4 [RCV000541126]|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV001168778]|none provided [RCV001282488]|not specified [RCV000250229] Chr9:132328623 [GRCh38]
Chr9:135204010 [GRCh37]
Chr9:9q34.13
benign|likely benign
NM_015046.7(SETX):c.7100+27A>G single nucleotide variant not specified [RCV000252677] Chr9:132275229 [GRCh38]
Chr9:135150616 [GRCh37]
Chr9:9q34.13
benign
NM_015046.7(SETX):c.3028C>T (p.Arg1010Cys) single nucleotide variant not specified [RCV000516603] Chr9:132328570 [GRCh38]
Chr9:135203957 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.6935+8T>C single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000278341]|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [RCV000388449]|not provided [RCV000576349]|not specified [RCV000243147] Chr9:132277052 [GRCh38]
Chr9:135152439 [GRCh37]
Chr9:9q34.13
benign|likely benign
NM_015046.7(SETX):c.498+30T>C single nucleotide variant not specified [RCV000248193] Chr9:132342660 [GRCh38]
Chr9:135218047 [GRCh37]
Chr9:9q34.13
benign
NM_015046.7(SETX):c.6655-24G>A single nucleotide variant not specified [RCV000250557] Chr9:132278281 [GRCh38]
Chr9:135153668 [GRCh37]
Chr9:9q34.13
benign
NM_015046.7(SETX):c.2446A>G (p.Thr816Ala) single nucleotide variant Amyotrophic lateral sclerosis type 4 [RCV000527749] Chr9:132329152 [GRCh38]
Chr9:135204539 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_015046.7(SETX):c.498+20G>A single nucleotide variant none provided [RCV001286862]|not specified [RCV000243442] Chr9:132342670 [GRCh38]
Chr9:135218057 [GRCh37]
Chr9:9q34.13
benign
NM_015046.7(SETX):c.6106+14G>A</