CCT5 (chaperonin containing TCP1 subunit 5) - Rat Genome Database

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Gene: CCT5 (chaperonin containing TCP1 subunit 5) Homo sapiens
Analyze
Symbol: CCT5
Name: chaperonin containing TCP1 subunit 5
RGD ID: 1354396
HGNC Page HGNC
Description: Enables several functions, including G-protein beta-subunit binding activity; beta-tubulin binding activity; and mRNA binding activity. Involved in several processes, including positive regulation of establishment of protein localization to telomere; positive regulation of telomere maintenance via telomerase; and protein stabilization. Located in centrosome and microtubule. Part of chaperonin-containing T-complex.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CCT-epsilon; CCTE; chaperonin containing TCP1, subunit 5 (epsilon); epididymis secretory protein Li 69; HEL-S-69; KIAA0098; PNAS-102; T-complex protein 1 subunit epsilon; T-complex protein 1, epsilon subunit; TCP-1-epsilon
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: CCT5-2P   CCT5P1   CCT5P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl510,249,929 - 10,266,389 (+)EnsemblGRCh38hg38GRCh38
GRCh38510,249,921 - 10,266,412 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37510,250,033 - 10,266,524 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36510,303,282 - 10,319,501 (+)NCBINCBI36hg18NCBI36
Build 34510,303,281 - 10,319,500NCBI
Celera510,290,174 - 10,306,401 (+)NCBI
Cytogenetic Map5p15.2NCBI
HuRef510,236,593 - 10,252,821 (+)NCBIHuRef
CHM1_1510,250,148 - 10,266,375 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17alpha-ethynylestradiol  (ISO)
1H-pyrazole  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP)
Aroclor 1254  (ISO)
atrazine  (EXP)
bathocuproine disulfonic acid  (EXP)
beauvericin  (EXP)
bisphenol A  (EXP,ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
captan  (ISO)
carbon nanotube  (ISO)
chromium trinitrate  (ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
CU-O LINKAGE  (EXP)
cycloheximide  (EXP)
cyclophosphamide  (ISO)
cyclosporin A  (EXP)
dicrotophos  (EXP)
doxorubicin  (EXP)
enniatin  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (EXP,ISO)
furan  (ISO)
gentamycin  (ISO)
gold atom  (ISO)
gold(0)  (ISO)
hyaluronic acid  (ISO)
hydrogen peroxide  (EXP,ISO)
ionomycin  (EXP)
ivermectin  (EXP)
lead(II) chloride  (EXP)
lovastatin  (ISO)
menadione  (EXP)
methamphetamine  (ISO)
methyl methanesulfonate  (EXP)
miconazole  (ISO)
N-acetyl-beta-D-glucosamine  (EXP)
N-acetyl-D-glucosamine  (EXP)
N-nitrosomorpholine  (ISO)
naphthalene  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nimesulide  (ISO)
PCB138  (ISO)
PhIP  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
potassium chromate  (ISO)
pyrrolidine dithiocarbamate  (EXP)
quercetin  (EXP)
rotenone  (EXP)
silicon dioxide  (EXP)
sodium dichromate  (ISO)
tamoxifen  (ISO)
temozolomide  (EXP)
tetrachloromethane  (ISO)
trimellitic anhydride  (ISO)
ursodeoxycholic acid  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP)
warfarin  (ISO)
zearalenone  (ISO)

References

Additional References at PubMed
PMID:7615668   PMID:7788527   PMID:7953530   PMID:9250675   PMID:10393949   PMID:10747865   PMID:11162507   PMID:11358150   PMID:11532003   PMID:11580269   PMID:11580270   PMID:12477932  
PMID:12502735   PMID:12530067   PMID:14532270   PMID:14702039   PMID:14743216   PMID:15231747   PMID:15489334   PMID:15889144   PMID:16085932   PMID:16159877   PMID:16169070   PMID:16189514  
PMID:16196087   PMID:16213212   PMID:16236267   PMID:16399879   PMID:16497536   PMID:16548883   PMID:16821082   PMID:17314511   PMID:17339318   PMID:17643375   PMID:18029348   PMID:18421076  
PMID:18715871   PMID:18775504   PMID:18781797   PMID:18782753   PMID:19056867   PMID:19135240   PMID:19156129   PMID:19167051   PMID:19376773   PMID:19380743   PMID:19651702   PMID:19738201  
PMID:20000738   PMID:20080638   PMID:20193073   PMID:20458337   PMID:20467437   PMID:20468064   PMID:20473970   PMID:20516061   PMID:21081666   PMID:21093005   PMID:21139048   PMID:21145461  
PMID:21319273   PMID:21525035   PMID:21654808   PMID:21701561   PMID:21726808   PMID:21873635   PMID:21890473   PMID:21906983   PMID:21942715   PMID:21963094   PMID:21987572   PMID:22053931  
PMID:22232265   PMID:22268729   PMID:22304920   PMID:22505724   PMID:22586326   PMID:22623428   PMID:22863883   PMID:22939629   PMID:22956598   PMID:23000965   PMID:23011926   PMID:23349634  
PMID:23376485   PMID:23383273   PMID:23398456   PMID:23438482   PMID:23443559   PMID:23455922   PMID:23612981   PMID:23658844   PMID:23703321   PMID:23741361   PMID:23752268   PMID:23897027  
PMID:24030972   PMID:24169447   PMID:24366813   PMID:24375412   PMID:24457600   PMID:24711643   PMID:24816145   PMID:24980433   PMID:24981860   PMID:25124038   PMID:25144556   PMID:25147182  
PMID:25192599   PMID:25306918   PMID:25324306   PMID:25329145   PMID:25342745   PMID:25345891   PMID:25416956   PMID:25437307   PMID:25467444   PMID:25737280   PMID:25756610   PMID:25796446  
PMID:25798074   PMID:25817432   PMID:25852190   PMID:25900982   PMID:25921289   PMID:25940091   PMID:25944111   PMID:25959826   PMID:25963833   PMID:25995452   PMID:26186194   PMID:26217791  
PMID:26344197   PMID:26460568   PMID:26472760   PMID:26496610   PMID:26549023   PMID:26618866   PMID:26638075   PMID:26643866   PMID:26811472   PMID:26816005   PMID:26831064   PMID:26972000  
PMID:26990986   PMID:27025967   PMID:27129302   PMID:27342126   PMID:27375898   PMID:27462432   PMID:27545878   PMID:27591049   PMID:27609421   PMID:27684187   PMID:27705803   PMID:27880917  
PMID:28027390   PMID:28089446   PMID:28096334   PMID:28302793   PMID:28330616   PMID:28514442   PMID:28515276   PMID:28561026   PMID:28581483   PMID:28675297   PMID:28685749   PMID:28700943  
PMID:28718761   PMID:28902428   PMID:28927264   PMID:29117863   PMID:29150431   PMID:29229926   PMID:29331416   PMID:29395067   PMID:29467282   PMID:29490077   PMID:29491746   PMID:29507755  
PMID:29509190   PMID:29531219   PMID:29568061   PMID:29665387   PMID:29845934   PMID:29991511   PMID:30009671   PMID:30021884   PMID:30209976   PMID:30425250   PMID:30442662   PMID:30455355  
PMID:30463901   PMID:30472188   PMID:30515972   PMID:30575818   PMID:30737378   PMID:30745168   PMID:30773093   PMID:30833792   PMID:30890647   PMID:30948266   PMID:30955883   PMID:30995489  
PMID:31059266   PMID:31091453   PMID:31152661   PMID:31239290   PMID:31300519   PMID:31353912   PMID:31405213   PMID:31527615   PMID:31586073   PMID:31665637   PMID:31722399   PMID:31732153  
PMID:31980649   PMID:32129710   PMID:32296183   PMID:32416067   PMID:32513696   PMID:32529326   PMID:32694731   PMID:32786267   PMID:32807901   PMID:32814053   PMID:32850835   PMID:32877691  
PMID:32929329   PMID:32994395   PMID:33076433   PMID:33144677   PMID:33226137   PMID:34079125  


Genomics

Comparative Map Data
CCT5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl510,249,929 - 10,266,389 (+)EnsemblGRCh38hg38GRCh38
GRCh38510,249,921 - 10,266,412 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37510,250,033 - 10,266,524 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36510,303,282 - 10,319,501 (+)NCBINCBI36hg18NCBI36
Build 34510,303,281 - 10,319,500NCBI
Celera510,290,174 - 10,306,401 (+)NCBI
Cytogenetic Map5p15.2NCBI
HuRef510,236,593 - 10,252,821 (+)NCBIHuRef
CHM1_1510,250,148 - 10,266,375 (+)NCBICHM1_1
Cct5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391531,590,946 - 31,601,992 (-)NCBIGRCm39mm39
GRCm39 Ensembl1531,590,946 - 31,601,950 (-)Ensembl
GRCm381531,590,800 - 31,601,846 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1531,590,800 - 31,601,804 (-)EnsemblGRCm38mm10GRCm38
MGSCv371531,520,639 - 31,531,559 (-)NCBIGRCm37mm9NCBIm37
MGSCv361531,535,473 - 31,546,393 (-)NCBImm8
Celera1532,284,699 - 32,295,619 (-)NCBICelera
Cytogenetic Map15B2NCBI
Cct5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2282,591,750 - 82,602,903 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl282,590,630 - 82,602,930 (-)Ensembl
Rnor_6.0284,667,578 - 84,678,730 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl284,667,633 - 84,678,790 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02104,340,314 - 104,351,466 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4283,681,785 - 83,692,937 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1283,626,748 - 83,637,899 (-)NCBI
Celera278,115,574 - 78,126,621 (-)NCBICelera
Cytogenetic Map2q22NCBI
Cct5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955426131,871 - 144,354 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955426132,106 - 144,251 (+)NCBIChiLan1.0ChiLan1.0
CCT5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1510,424,157 - 10,440,613 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl510,424,157 - 10,440,613 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0510,565,911 - 10,580,808 (+)NCBIMhudiblu_PPA_v0panPan3
CCT5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1344,035,851 - 4,049,131 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl344,035,857 - 4,049,244 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha348,538,451 - 8,551,673 (-)NCBI
ROS_Cfam_1.0343,938,380 - 3,951,603 (-)NCBI
UMICH_Zoey_3.1343,990,220 - 4,003,422 (-)NCBI
UNSW_CanFamBas_1.0343,969,548 - 3,982,775 (-)NCBI
UU_Cfam_GSD_1.0344,200,135 - 4,213,334 (-)NCBI
Cct5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213237,034,724 - 237,047,654 (-)NCBI
SpeTri2.0NW_0049366432,354,799 - 2,368,048 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CCT5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1672,208,012 - 72,223,114 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11672,211,452 - 72,223,202 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
CCT5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.149,787,093 - 9,802,892 (+)NCBI
ChlSab1.1 Ensembl49,787,101 - 9,805,852 (+)Ensembl
Vero_WHO_p1.0NW_02366606418,741,362 - 18,757,404 (-)NCBI
Cct5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247517,615,098 - 7,628,985 (+)NCBI

Position Markers
G19980  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37510,264,895 - 10,265,015UniSTSGRCh37
Build 36510,317,895 - 10,318,015RGDNCBI36
Celera510,304,790 - 10,304,910RGD
Cytogenetic Map5p15.2UniSTS
HuRef510,251,210 - 10,251,330UniSTS
RH25325  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37510,263,249 - 10,263,384UniSTSGRCh37
Build 36510,316,249 - 10,316,384RGDNCBI36
Celera510,303,146 - 10,303,281RGD
Cytogenetic Map5p15.2UniSTS
HuRef510,249,566 - 10,249,701UniSTS
D5S2412  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37510,264,910 - 10,265,190UniSTSGRCh37
Build 36510,317,910 - 10,318,190RGDNCBI36
Celera510,304,805 - 10,305,085RGD
Cytogenetic Map5p15.2UniSTS
HuRef510,251,225 - 10,251,505UniSTS
Stanford-G3 RH Map5371.0UniSTS
Whitehead-YAC Contig Map5 UniSTS
GeneMap99-G3 RH Map5371.0UniSTS
A002D32  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37510,264,895 - 10,265,015UniSTSGRCh37
Build 36510,317,895 - 10,318,015RGDNCBI36
Celera510,304,790 - 10,304,910RGD
Cytogenetic Map5p15.2UniSTS
HuRef510,251,210 - 10,251,330UniSTS
GeneMap99-GB4 RH Map540.04UniSTS
NCBI RH Map553.1UniSTS
RH48173  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37510,266,286 - 10,266,411UniSTSGRCh37
Build 36510,319,286 - 10,319,411RGDNCBI36
Celera510,306,186 - 10,306,311RGD
Cytogenetic Map5p15.2UniSTS
HuRef510,252,606 - 10,252,731UniSTS
GeneMap99-GB4 RH Map538.02UniSTS
NCBI RH Map553.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2016
Count of miRNA genes:931
Interacting mature miRNAs:1107
Transcripts:ENST00000280326, ENST00000423695, ENST00000503026, ENST00000503454, ENST00000506600, ENST00000508451, ENST00000509846, ENST00000510326, ENST00000511700, ENST00000511995, ENST00000512975, ENST00000514674, ENST00000515390, ENST00000515676
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 8 6
Medium 2439 2860 1678 578 1906 419 4357 2115 3563 411 1452 1604 175 1 1204 2788 6 2
Low 131 48 46 45 46 82 171 8 3
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001306153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001306154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001306155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001306156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC012640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF275798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI290125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI470998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ012489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU858349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D43950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB449481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC368224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC395133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ224303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000280326   ⟹   ENSP00000280326
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl510,250,280 - 10,266,389 (+)Ensembl
RefSeq Acc Id: ENST00000423695
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl510,250,319 - 10,262,201 (+)Ensembl
RefSeq Acc Id: ENST00000503026   ⟹   ENSP00000423318
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl510,249,929 - 10,265,078 (+)Ensembl
RefSeq Acc Id: ENST00000503454   ⟹   ENSP00000422744
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl510,250,360 - 10,258,535 (+)Ensembl
RefSeq Acc Id: ENST00000506600   ⟹   ENSP00000423052
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl510,250,539 - 10,265,011 (+)Ensembl
RefSeq Acc Id: ENST00000508451
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl510,250,309 - 10,255,030 (+)Ensembl
RefSeq Acc Id: ENST00000509846
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl510,258,386 - 10,261,187 (+)Ensembl
RefSeq Acc Id: ENST00000510326
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl510,250,319 - 10,254,584 (+)Ensembl
RefSeq Acc Id: ENST00000511700   ⟹   ENSP00000423087
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl510,250,243 - 10,258,247 (+)Ensembl
RefSeq Acc Id: ENST00000511995
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl510,261,975 - 10,264,921 (+)Ensembl
RefSeq Acc Id: ENST00000512975   ⟹   ENSP00000425751
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl510,250,319 - 10,260,899 (+)Ensembl
RefSeq Acc Id: ENST00000514674
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl510,257,886 - 10,258,535 (+)Ensembl
RefSeq Acc Id: ENST00000515390   ⟹   ENSP00000426923
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl510,250,216 - 10,264,925 (+)Ensembl
RefSeq Acc Id: ENST00000515676   ⟹   ENSP00000427297
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl510,250,537 - 10,264,902 (+)Ensembl
RefSeq Acc Id: ENST00000625723   ⟹   ENSP00000487128
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl510,250,341 - 10,258,140 (+)Ensembl
RefSeq Acc Id: NM_001306153   ⟹   NP_001293082
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38510,249,921 - 10,266,412 (+)NCBI
CHM1_1510,249,899 - 10,266,398 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001306154   ⟹   NP_001293083
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38510,250,280 - 10,266,389 (+)NCBI
CHM1_1510,249,899 - 10,266,398 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001306155   ⟹   NP_001293084
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38510,250,537 - 10,266,389 (+)NCBI
CHM1_1510,250,515 - 10,266,398 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001306156   ⟹   NP_001293085
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38510,250,537 - 10,266,389 (+)NCBI
CHM1_1510,250,515 - 10,266,398 (+)NCBI
Sequence:
RefSeq Acc Id: NM_012073   ⟹   NP_036205
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38510,250,280 - 10,266,389 (+)NCBI
GRCh37510,250,041 - 10,266,501 (+)NCBI
Build 36510,303,282 - 10,319,501 (+)NCBI Archive
HuRef510,236,593 - 10,252,821 (+)ENTREZGENE
CHM1_1510,249,899 - 10,266,398 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_036205   ⟸   NM_012073
- Peptide Label: isoform a
- UniProtKB: P48643 (UniProtKB/Swiss-Prot),   V9HW37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001293083   ⟸   NM_001306154
- Peptide Label: isoform c
- UniProtKB: B4DYC8 (UniProtKB/TrEMBL),   E7ENZ3 (UniProtKB/TrEMBL),   V9HW37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001293082   ⟸   NM_001306153
- Peptide Label: isoform b
- UniProtKB: B4DX08 (UniProtKB/TrEMBL),   E9PCA1 (UniProtKB/TrEMBL),   V9HW37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001293085   ⟸   NM_001306156
- Peptide Label: isoform e
- UniProtKB: B4DDU6 (UniProtKB/TrEMBL),   B7ZAR1 (UniProtKB/TrEMBL),   V9HW37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001293084   ⟸   NM_001306155
- Peptide Label: isoform d
- UniProtKB: P48643 (UniProtKB/Swiss-Prot),   V9HW37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000423318   ⟸   ENST00000503026
RefSeq Acc Id: ENSP00000422744   ⟸   ENST00000503454
RefSeq Acc Id: ENSP00000280326   ⟸   ENST00000280326
RefSeq Acc Id: ENSP00000423052   ⟸   ENST00000506600
RefSeq Acc Id: ENSP00000487128   ⟸   ENST00000625723
RefSeq Acc Id: ENSP00000423087   ⟸   ENST00000511700
RefSeq Acc Id: ENSP00000425751   ⟸   ENST00000512975
RefSeq Acc Id: ENSP00000426923   ⟸   ENST00000515390
RefSeq Acc Id: ENSP00000427297   ⟸   ENST00000515676

Promoters
RGD ID:6869240
Promoter ID:EPDNEW_H7785
Type:initiation region
Name:CCT5_1
Description:chaperonin containing TCP1 subunit 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7783  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38510,250,288 - 10,250,348EPDNEW
RGD ID:6803188
Promoter ID:HG_KWN:49782
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_199133,   OTTHUMT00000253688,   UC003JEP.2,   UC003JER.1,   UC010ITS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36510,302,756 - 10,303,557 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_012073.5(CCT5):c.1194G>A (p.Ala398=) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000528806] Chr5:10262495 [GRCh38]
Chr5:10262607 [GRCh37]
Chr5:5p15.2
benign
NM_012073.5(CCT5):c.895C>G (p.Leu299Val) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000552383] Chr5:10260813 [GRCh38]
Chr5:10260925 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.440A>G (p.His147Arg) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000001390]|not provided [RCV000434241] Chr5:10256063 [GRCh38]
Chr5:10256175 [GRCh37]
Chr5:5p15.2
pathogenic|likely pathogenic|uncertain significance
NM_012073.5(CCT5):c.1359C>T (p.Asp453=) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000641271] Chr5:10263175 [GRCh38]
Chr5:10263287 [GRCh37]
Chr5:5p15.2
likely benign
NM_012073.5(CCT5):c.1308G>A (p.Glu436=) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000641272] Chr5:10262609 [GRCh38]
Chr5:10262721 [GRCh37]
Chr5:5p15.2
likely benign
NM_012073.5(CCT5):c.1336T>C (p.Tyr446His) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000526877] Chr5:10263152 [GRCh38]
Chr5:10263264 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.1132A>G (p.Lys378Glu) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000550521] Chr5:10261698 [GRCh38]
Chr5:10261810 [GRCh37]
Chr5:5p15.2
uncertain significance
GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1 copy number loss See cases [RCV000050295] Chr5:49978..15678451 [GRCh38]
Chr5:50093..15678560 [GRCh37]
Chr5:103093..15731560 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh38/hg38 5p15.31-15.2(chr5:9843412-11298705)x3 copy number gain See cases [RCV000050789] Chr5:9843412..11298705 [GRCh38]
Chr5:9843524..11298817 [GRCh37]
Chr5:9896524..11351817 [NCBI36]
Chr5:5p15.31-15.2
uncertain significance
GRCh38/hg38 5p15.31-15.2(chr5:9570494-10269457)x3 copy number gain See cases [RCV000050873] Chr5:9570494..10269457 [GRCh38]
Chr5:9570606..10269569 [GRCh37]
Chr5:9623606..10322569 [NCBI36]
Chr5:5p15.31-15.2
uncertain significance
GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3 copy number gain See cases [RCV000051811] Chr5:54839..35680845 [GRCh38]
Chr5:54954..35680947 [GRCh37]
Chr5:107954..35716704 [NCBI36]
Chr5:5p15.33-13.2
pathogenic
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 copy number gain See cases [RCV000051810] Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12
pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1 copy number loss See cases [RCV000053398] Chr5:22149..23132046 [GRCh38]
Chr5:22149..23132155 [GRCh37]
Chr5:75149..23167912 [NCBI36]
Chr5:5p15.33-14.3
pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-12004091)x1 copy number loss See cases [RCV000053399] Chr5:22149..12004091 [GRCh38]
Chr5:22149..12004203 [GRCh37]
Chr5:75149..12057203 [NCBI36]
Chr5:5p15.33-15.2
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-17425613)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]|See cases [RCV000053401] Chr5:22149..17425613 [GRCh38]
Chr5:22149..17425722 [GRCh37]
Chr5:75149..17478722 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-15995341)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053418]|See cases [RCV000053418] Chr5:22149..15995341 [GRCh38]
Chr5:22149..15995450 [GRCh37]
Chr5:75149..16048450 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1 copy number loss See cases [RCV000053419] Chr5:22419..19280892 [GRCh38]
Chr5:22419..19281001 [GRCh37]
Chr5:75419..19316758 [NCBI36]
Chr5:5p15.33-14.3
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:49778-16908798)x1 copy number loss See cases [RCV000053422] Chr5:49778..16908798 [GRCh38]
Chr5:49893..16908907 [GRCh37]
Chr5:102893..16961907 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:49778-19125522)x1 copy number loss See cases [RCV000053424] Chr5:49778..19125522 [GRCh38]
Chr5:49893..19125631 [GRCh37]
Chr5:102893..19161388 [NCBI36]
Chr5:5p15.33-14.3
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:547757-26541238)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]|See cases [RCV000053445] Chr5:547757..26541238 [GRCh38]
Chr5:547872..26541347 [GRCh37]
Chr5:600872..26577104 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:2180761-17602433)x1 copy number loss See cases [RCV000053446] Chr5:2180761..17602433 [GRCh38]
Chr5:2180875..17602542 [GRCh37]
Chr5:2233875..17645646 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
NM_012073.5(CCT5):c.267G>C (p.Lys89Asn) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000662026] Chr5:10254774 [GRCh38]
Chr5:10254886 [GRCh37]
Chr5:5p15.2
uncertain significance
GRCh37/hg19 5p15.33-13.3(chr5:22149-29048823)x1 copy number loss See cases [RCV001310287] Chr5:22149..29048823 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3 copy number gain See cases [RCV000133788] Chr5:22149..33418188 [GRCh38]
Chr5:22149..33418294 [GRCh37]
Chr5:75149..33454051 [NCBI36]
Chr5:5p15.33-13.3
pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-12819999)x1 copy number loss See cases [RCV000133796] Chr5:22149..12819999 [GRCh38]
Chr5:22149..12820111 [GRCh37]
Chr5:75149..12873111 [NCBI36]
Chr5:5p15.33-15.2
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1 copy number loss See cases [RCV000133768] Chr5:22149..25699605 [GRCh38]
Chr5:22149..25699714 [GRCh37]
Chr5:75149..25735471 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1 copy number loss See cases [RCV000134873] Chr5:22149..27788616 [GRCh38]
Chr5:22149..27788723 [GRCh37]
Chr5:75149..27824480 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1 copy number loss See cases [RCV000135668] Chr5:22149..32248010 [GRCh38]
Chr5:22149..32248116 [GRCh37]
Chr5:75149..32283873 [NCBI36]
Chr5:5p15.33-13.3
pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1 copy number loss See cases [RCV000135878] Chr5:49978..30112535 [GRCh38]
Chr5:50093..30112642 [GRCh37]
Chr5:103093..30148399 [NCBI36]
Chr5:5p15.33-13.3
pathogenic
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 copy number gain See cases [RCV000135453] Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1 copy number loss See cases [RCV000136556] Chr5:22149..16584575 [GRCh38]
Chr5:22149..16584684 [GRCh37]
Chr5:75149..16637684 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh38/hg38 5p15.2-15.1(chr5:10212880-16770474)x3 copy number gain See cases [RCV000136902] Chr5:10212880..16770474 [GRCh38]
Chr5:10212992..16770583 [GRCh37]
Chr5:10265992..16823583 [NCBI36]
Chr5:5p15.2-15.1
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1 copy number loss See cases [RCV000137072] Chr5:22149..27485619 [GRCh38]
Chr5:22149..27485726 [GRCh37]
Chr5:75149..27521483 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-15851376)x3 copy number gain See cases [RCV000136943] Chr5:22149..15851376 [GRCh38]
Chr5:22149..15851485 [GRCh37]
Chr5:75149..15904485 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3 copy number gain See cases [RCV000137682] Chr5:22149..28075106 [GRCh38]
Chr5:22149..28075213 [GRCh37]
Chr5:75149..28110970 [NCBI36]
Chr5:5p15.33-14.1
pathogenic|uncertain significance
GRCh38/hg38 5p15.31-15.2(chr5:8824306-14246099)x1 copy number loss See cases [RCV000137141] Chr5:8824306..14246099 [GRCh38]
Chr5:8824418..14246208 [GRCh37]
Chr5:8877418..14299208 [NCBI36]
Chr5:5p15.31-15.2
pathogenic|uncertain significance
GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1 copy number loss See cases [RCV000137165] Chr5:22149..28429241 [GRCh38]
Chr5:22149..28429348 [GRCh37]
Chr5:75149..28465105 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1 copy number loss See cases [RCV000138116] Chr5:22149..22775295 [GRCh38]
Chr5:22149..22775404 [GRCh37]
Chr5:75149..22811161 [NCBI36]
Chr5:5p15.33-14.3
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1 copy number loss See cases [RCV000138099] Chr5:22149..27187950 [GRCh38]
Chr5:22149..27188057 [GRCh37]
Chr5:75149..27223814 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-11429258)x1 copy number loss See cases [RCV000137884] Chr5:22149..11429258 [GRCh38]
Chr5:22149..11429370 [GRCh37]
Chr5:75149..11482370 [NCBI36]
Chr5:5p15.33-15.2
pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-11530391)x1 copy number loss See cases [RCV000137915] Chr5:22149..11530391 [GRCh38]
Chr5:22149..11530503 [GRCh37]
Chr5:75149..11583503 [NCBI36]
Chr5:5p15.33-15.2
pathogenic
GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3 copy number gain See cases [RCV000137806] Chr5:22149..23607053 [GRCh38]
Chr5:22149..23607162 [GRCh37]
Chr5:75149..23642919 [NCBI36]
Chr5:5p15.33-14.2
pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1 copy number loss See cases [RCV000138888] Chr5:22149..35831538 [GRCh38]
Chr5:22149..35831640 [GRCh37]
Chr5:75149..35867397 [NCBI36]
Chr5:5p15.33-13.2
pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3
pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1 copy number loss See cases [RCV000138553] Chr5:22149..21217120 [GRCh38]
Chr5:22149..21217229 [GRCh37]
Chr5:75149..21252986 [NCBI36]
Chr5:5p15.33-14.3
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-17788697)x1 copy number loss See cases [RCV000138288] Chr5:22149..17788697 [GRCh38]
Chr5:22149..17788806 [GRCh37]
Chr5:75149..17824563 [NCBI36]
Chr5:5p15.33-15.1
likely benign
GRCh38/hg38 5p15.31-15.2(chr5:7670933-13623997)x1 copy number loss See cases [RCV000139904] Chr5:7670933..13623997 [GRCh38]
Chr5:7671046..13624106 [GRCh37]
Chr5:7724046..13677106 [NCBI36]
Chr5:5p15.31-15.2
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1 copy number loss See cases [RCV000141225] Chr5:22149..28589192 [GRCh38]
Chr5:22149..28589299 [GRCh37]
Chr5:75149..28625056 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3 copy number gain See cases [RCV000141246] Chr5:4849498..36818719 [GRCh38]
Chr5:4849611..36818821 [GRCh37]
Chr5:4902611..36854578 [NCBI36]
Chr5:5p15.32-13.2
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1 copy number loss See cases [RCV000140964] Chr5:22149..16930016 [GRCh38]
Chr5:22149..16930125 [GRCh37]
Chr5:75149..16983125 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1 copy number loss See cases [RCV000141844] Chr5:113461..33998289 [GRCh38]
Chr5:113576..33998394 [GRCh37]
Chr5:166576..34034151 [NCBI36]
Chr5:5p15.33-13.2
pathogenic
GRCh38/hg38 5p15.32-14.3(chr5:4932707-18465361)x1 copy number loss See cases [RCV000141795] Chr5:4932707..18465361 [GRCh38]
Chr5:4932820..18465470 [GRCh37]
Chr5:4985820..18501227 [NCBI36]
Chr5:5p15.32-14.3
pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:113461-14684362)x1 copy number loss See cases [RCV000142183] Chr5:113461..14684362 [GRCh38]
Chr5:113576..14684471 [GRCh37]
Chr5:166576..14737471 [NCBI36]
Chr5:5p15.33-15.2
pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1 copy number loss See cases [RCV000143022] Chr5:22149..21726360 [GRCh38]
Chr5:22149..21726469 [GRCh37]
Chr5:75149..21762226 [NCBI36]
Chr5:5p15.33-14.3
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1 copy number loss See cases [RCV000142934] Chr5:22149..27611163 [GRCh38]
Chr5:22149..27611270 [GRCh37]
Chr5:75149..27647027 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1 copy number loss See cases [RCV000142645] Chr5:22149..26593891 [GRCh38]
Chr5:22149..26594000 [GRCh37]
Chr5:75149..26629757 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1 copy number loss See cases [RCV000148250] Chr5:49978..15678451 [GRCh38]
Chr5:50093..15678560 [GRCh37]
Chr5:103093..15731560 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
NM_012073.5(CCT5):c.*487C>T single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000260483] Chr5:10265270 [GRCh38]
Chr5:10265382 [GRCh37]
Chr5:5p15.2
benign|uncertain significance
NM_012073.5(CCT5):c.1059G>A (p.Leu353=) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000862439] Chr5:10261625 [GRCh38]
Chr5:10261737 [GRCh37]
Chr5:5p15.2
benign|likely benign|uncertain significance
NM_012073.5(CCT5):c.1474G>A (p.Asp492Asn) single nucleotide variant Sensory Neuropathy with Spastic Paraplegia [RCV000263345] Chr5:10263290 [GRCh38]
Chr5:10263402 [GRCh37]
Chr5:5p15.2
uncertain significance
GRCh37/hg19 5p15.33-13.3(chr5:25328-30672798)x1 copy number loss See cases [RCV000515550] Chr5:25328..30672798 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:79146-15509107)x1 copy number loss See cases [RCV000240157] Chr5:79146..15509107 [GRCh37]
Chr5:5p15.33-15.1
pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-33493797)x1 copy number loss See cases [RCV000449075] Chr5:113576..33493797 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
NM_012073.5(CCT5):c.487G>A (p.Glu163Lys) single nucleotide variant Hereditary spastic paraplegia [RCV000516135]|Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001367889] Chr5:10256110 [GRCh38]
Chr5:10256222 [GRCh37]
Chr5:5p15.2
uncertain significance
GRCh37/hg19 5p15.33-14.3(chr5:25328-19661628)x3 copy number gain not provided [RCV000234904] Chr5:25328..19661628 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
NM_012073.5(CCT5):c.1086C>G (p.Ile362Met) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001082153]|not provided [RCV000232683] Chr5:10261652 [GRCh38]
Chr5:10261764 [GRCh37]
Chr5:5p15.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012073.5(CCT5):c.437A>T (p.Glu146Val) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000226591] Chr5:10256060 [GRCh38]
Chr5:10256172 [GRCh37]
Chr5:5p15.2
benign|likely benign
NM_012073.5(CCT5):c.738G>A (p.Ala246=) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000229368] Chr5:10258400 [GRCh38]
Chr5:10258512 [GRCh37]
Chr5:5p15.2
benign|likely benign
NM_012073.5(CCT5):c.2T>G (p.Met1Arg) single nucleotide variant not provided [RCV000757063] Chr5:10250342 [GRCh38]
Chr5:10250454 [GRCh37]
Chr5:5p15.2
uncertain significance
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041255)x3 copy number gain See cases [RCV000240016] Chr5:22149..34041255 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
NM_012073.5(CCT5):c.1183A>G (p.Ile395Val) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000267908] Chr5:10262484 [GRCh38]
Chr5:10262596 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.*1042T>C single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000284616] Chr5:10265825 [GRCh38]
Chr5:10265937 [GRCh37]
Chr5:5p15.2
likely benign|uncertain significance
NM_001306153.1(CCT5):c.42+171A>G single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000285904] Chr5:10250216 [GRCh38]
Chr5:10250328 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.954C>T (p.Asn318=) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000530680] Chr5:10260872 [GRCh38]
Chr5:10260984 [GRCh37]
Chr5:5p15.2
likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 5p15.33-15.2(chr5:22149-13362684)x1 copy number loss See cases [RCV000240389] Chr5:22149..13362684 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
NM_012073.5(CCT5):c.*841T>C single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000278026] Chr5:10265624 [GRCh38]
Chr5:10265736 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.*69C>T single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000352484] Chr5:10264852 [GRCh38]
Chr5:10264964 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.1346G>A (p.Arg449Lys) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001061129] Chr5:10263162 [GRCh38]
Chr5:10263274 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.86T>C (p.Met29Thr) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000641269] Chr5:10250426 [GRCh38]
Chr5:10250538 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.*513G>C single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000300208] Chr5:10265296 [GRCh38]
Chr5:10265408 [GRCh37]
Chr5:5p15.2
benign|uncertain significance
NM_012073.5(CCT5):c.531-10T>G single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000314541] Chr5:10258101 [GRCh38]
Chr5:10258213 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.*420T>C single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000353017] Chr5:10265203 [GRCh38]
Chr5:10265315 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.*994_*995insATTCT insertion Sensory Neuropathy with Spastic Paraplegia [RCV000376747] Chr5:10265774..10265775 [GRCh38]
Chr5:10265886..10265887 [GRCh37]
Chr5:5p15.2
benign
NM_012073.5(CCT5):c.*566C>T single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000357468] Chr5:10265349 [GRCh38]
Chr5:10265461 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.677A>G (p.Lys226Arg) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000403343] Chr5:10258257 [GRCh38]
Chr5:10258369 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.1070G>A (p.Gly357Asp) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000862527] Chr5:10261636 [GRCh38]
Chr5:10261748 [GRCh37]
Chr5:5p15.2
likely benign|uncertain significance
NM_012073.5(CCT5):c.*181C>T single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000381495] Chr5:10264964 [GRCh38]
Chr5:10265076 [GRCh37]
Chr5:5p15.2
benign
NM_012073.5(CCT5):c.*920dup duplication Sensory Neuropathy with Spastic Paraplegia [RCV000290415] Chr5:10265702..10265703 [GRCh38]
Chr5:10265814..10265815 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.*383A>G single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000305058] Chr5:10265166 [GRCh38]
Chr5:10265278 [GRCh37]
Chr5:5p15.2
benign
NM_012073.5(CCT5):c.*347T>C single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000340265] Chr5:10265130 [GRCh38]
Chr5:10265242 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.*205T>C single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000288913] Chr5:10264988 [GRCh38]
Chr5:10265100 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.*1087A>T single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000341986] Chr5:10265870 [GRCh38]
Chr5:10265982 [GRCh37]
Chr5:5p15.2
likely benign|uncertain significance
NM_012073.5(CCT5):c.*320T>C single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000408210] Chr5:10265103 [GRCh38]
Chr5:10265215 [GRCh37]
Chr5:5p15.2
benign|uncertain significance
NM_012073.5(CCT5):c.-59A>G single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000324598] Chr5:10250282 [GRCh38]
Chr5:10250394 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.648C>G (p.Gly216=) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000343638] Chr5:10258228 [GRCh38]
Chr5:10258340 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.*866A>C single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000325936] Chr5:10265649 [GRCh38]
Chr5:10265761 [GRCh37]
Chr5:5p15.2
benign|likely benign
NM_012073.5(CCT5):c.878A>T (p.Lys293Ile) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000692306] Chr5:10260796 [GRCh38]
Chr5:10260908 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.*67A>G single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000295243] Chr5:10264850 [GRCh38]
Chr5:10264962 [GRCh37]
Chr5:5p15.2
benign
NM_012073.5(CCT5):c.*1471del deletion Sensory Neuropathy with Spastic Paraplegia [RCV000368064] Chr5:10266250 [GRCh38]
Chr5:10266362 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.*1401G>A single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000311181] Chr5:10266184 [GRCh38]
Chr5:10266296 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.*1377C>G single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000392459] Chr5:10266160 [GRCh38]
Chr5:10266272 [GRCh37]
Chr5:5p15.2
benign|likely benign
NM_012073.5(CCT5):c.*1126T>A single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000392468] Chr5:10265909 [GRCh38]
Chr5:10266021 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.1474G>C (p.Asp492His) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000330281] Chr5:10263290 [GRCh38]
Chr5:10263402 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.426T>C (p.Arg142=) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000602560] Chr5:10256049 [GRCh38]
Chr5:10256161 [GRCh37]
Chr5:5p15.2
benign
NM_012073.5(CCT5):c.*776T>C single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000331665] Chr5:10265559 [GRCh38]
Chr5:10265671 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.-48C>T single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000372266] Chr5:10250293 [GRCh38]
Chr5:10250405 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.*593A>G single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000274243] Chr5:10265376 [GRCh38]
Chr5:10265488 [GRCh37]
Chr5:5p15.2
benign
NM_012073.5(CCT5):c.-23G>A single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000603138] Chr5:10250318 [GRCh38]
Chr5:10250430 [GRCh37]
Chr5:5p15.2
benign
NM_012073.5(CCT5):c.*1172G>T single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000278944] Chr5:10265955 [GRCh38]
Chr5:10266067 [GRCh37]
Chr5:5p15.2
benign
NM_012073.5(CCT5):c.198A>G (p.Gly66=) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000615007] Chr5:10254705 [GRCh38]
Chr5:10254817 [GRCh37]
Chr5:5p15.2
benign
NM_012073.5(CCT5):c.1317+10C>A single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000609847] Chr5:10262628 [GRCh38]
Chr5:10262740 [GRCh37]
Chr5:5p15.2
benign
NM_012073.5(CCT5):c.*992_*994dup duplication Sensory Neuropathy with Spastic Paraplegia [RCV000329022] Chr5:10265774..10265775 [GRCh38]
Chr5:10265886..10265887 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.-10T>C single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000610291] Chr5:10250331 [GRCh38]
Chr5:10250443 [GRCh37]
Chr5:5p15.2
benign
NM_012073.5(CCT5):c.*824C>G single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000388774] Chr5:10265607 [GRCh38]
Chr5:10265719 [GRCh37]
Chr5:5p15.2
benign
NM_012073.5(CCT5):c.*382C>T single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000404644] Chr5:10265165 [GRCh38]
Chr5:10265277 [GRCh37]
Chr5:5p15.2
benign
NM_012073.5(CCT5):c.*221_*222del deletion Sensory Neuropathy with Spastic Paraplegia [RCV000346153] Chr5:10265003..10265004 [GRCh38]
Chr5:10265115..10265116 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.*892_*894delinsTGACATCTTAC indel Sensory Neuropathy with Spastic Paraplegia [RCV000382907] Chr5:10265675..10265677 [GRCh38]
Chr5:10265787..10265789 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.*25A>G single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000387109] Chr5:10264808 [GRCh38]
Chr5:10264920 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.*1239C>G single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000336310] Chr5:10266022 [GRCh38]
Chr5:10266134 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.1316A>C (p.Lys439Thr) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000553173] Chr5:10262617 [GRCh38]
Chr5:10262729 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.*345T>C single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000301694] Chr5:10265128 [GRCh38]
Chr5:10265240 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.1051G>A (p.Glu351Lys) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000641268]|not provided [RCV001508168] Chr5:10261617 [GRCh38]
Chr5:10261729 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.106-6C>T single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000641273] Chr5:10254139 [GRCh38]
Chr5:10254251 [GRCh37]
Chr5:5p15.2
likely benign
NM_012073.5(CCT5):c.753C>T (p.Leu251=) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001477653]|not provided [RCV000541624] Chr5:10258415 [GRCh38]
Chr5:10258527 [GRCh37]
Chr5:5p15.2
likely benign
NM_012073.5(CCT5):c.1044C>T (p.Leu348=) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000535772] Chr5:10261610 [GRCh38]
Chr5:10261722 [GRCh37]
Chr5:5p15.2
likely benign
NM_012073.5(CCT5):c.1311G>A (p.Ala437=) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000538401] Chr5:10262612 [GRCh38]
Chr5:10262724 [GRCh37]
Chr5:5p15.2
likely benign
GRCh37/hg19 5p15.33-15.1(chr5:113576-16854340)x1 copy number loss See cases [RCV000449097] Chr5:113576..16854340 [GRCh37]
Chr5:5p15.33-15.1
pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:3159498-30585683)x3 copy number gain See cases [RCV000449100] Chr5:3159498..30585683 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-30279389)x3 copy number gain See cases [RCV000446077] Chr5:113576..30279389 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:22149-24835567)x1 copy number loss See cases [RCV000447672] Chr5:22149..24835567 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:113576-34372083)x1 copy number loss See cases [RCV000446974] Chr5:113576..34372083 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-17334977)x1 copy number loss See cases [RCV000446645] Chr5:113576..17334977 [GRCh37]
Chr5:5p15.33-15.1
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-27338567)x1 copy number loss See cases [RCV000446054] Chr5:113576..27338567 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-14238330)x3 copy number gain See cases [RCV000447632] Chr5:113576..14238330 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-25948451)x1 copy number loss See cases [RCV000447462] Chr5:113576..25948451 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.31-13.3(chr5:7806183-31019599)x1 copy number loss See cases [RCV000445859] Chr5:7806183..31019599 [GRCh37]
Chr5:5p15.31-13.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041196)x1 copy number loss See cases [RCV000448019] Chr5:22149..34041196 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-21786246)x1 copy number loss See cases [RCV000448521] Chr5:113576..21786246 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-23147737)x1 copy number loss See cases [RCV000448408] Chr5:113576..23147737 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:79146-22152284)x1 copy number loss See cases [RCV000447737] Chr5:79146..22152284 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.31-14.2(chr5:9120813-24274030)x1 copy number loss See cases [RCV000448421] Chr5:9120813..24274030 [GRCh37]
Chr5:5p15.31-14.2
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-25091472)x1 copy number loss See cases [RCV000512066] Chr5:113576..25091472 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
NM_012073.5(CCT5):c.1324A>G (p.Thr442Ala) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000459866] Chr5:10263140 [GRCh38]
Chr5:10263252 [GRCh37]
Chr5:5p15.2
uncertain significance
GRCh37/hg19 5p15.33-14.1(chr5:113576-26234903)x1 copy number loss See cases [RCV000510193] Chr5:113576..26234903 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-15291661)x1 copy number loss See cases [RCV000511513] Chr5:113576..15291661 [GRCh37]
Chr5:5p15.33-15.1
pathogenic
GRCh37/hg19 5p15.31-15.2(chr5:9798793-11208440)x3 copy number gain See cases [RCV000511792] Chr5:9798793..11208440 [GRCh37]
Chr5:5p15.31-15.2
likely benign
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-10729838)x1 copy number loss See cases [RCV000510912] Chr5:113576..10729838 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-26948599)x1 copy number loss See cases [RCV000510921] Chr5:113576..26948599 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-23047959)x1 copy number loss See cases [RCV000510786] Chr5:113576..23047959 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
NM_012073.5(CCT5):c.724-6C>T single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000641270] Chr5:10258380 [GRCh38]
Chr5:10258492 [GRCh37]
Chr5:5p15.2
likely benign
NM_012073.5(CCT5):c.1350G>A (p.Ala450=) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000641274] Chr5:10263166 [GRCh38]
Chr5:10263278 [GRCh37]
Chr5:5p15.2
benign
NM_012073.5(CCT5):c.1180-4T>C single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000641275] Chr5:10262477 [GRCh38]
Chr5:10262589 [GRCh37]
Chr5:5p15.2
likely benign
GRCh37/hg19 5p15.33-14.3(chr5:113576-20240392)x3 copy number gain See cases [RCV000512567] Chr5:113576..20240392 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-15822225)x1 copy number loss not provided [RCV000682514] Chr5:113576..15822225 [GRCh37]
Chr5:5p15.33-15.1
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-19167699)x1 copy number loss not provided [RCV000682515] Chr5:113576..19167699 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3 copy number gain not provided [RCV000682516] Chr5:113576..35739404 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh37/hg19 5p15.32-14.3(chr5:5830053-19490899)x1 copy number loss not provided [RCV000682520] Chr5:5830053..19490899 [GRCh37]
Chr5:5p15.32-14.3
pathogenic
GRCh37/hg19 5p15.32-15.2(chr5:5884444-14122539)x3 copy number gain not provided [RCV000682521] Chr5:5884444..14122539 [GRCh37]
Chr5:5p15.32-15.2
pathogenic
NM_012073.5(CCT5):c.377G>A (p.Arg126Gln) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000698257] Chr5:10256000 [GRCh38]
Chr5:10256112 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.1310C>T (p.Ala437Val) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000698154] Chr5:10262611 [GRCh38]
Chr5:10262723 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.332-18C>G single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001001817] Chr5:10255937 [GRCh38]
Chr5:10256049 [GRCh37]
Chr5:5p15.2
benign
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-18662625)x1 copy number loss not provided [RCV000744320] Chr5:25328..18662625 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-18698028)x3 copy number gain not provided [RCV000744321] Chr5:25328..18698028 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:25328-31343671)x1 copy number loss not provided [RCV000744322] Chr5:25328..31343671 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.2(chr5:10265076-10274575)x0 copy number loss not provided [RCV000744417] Chr5:10265076..10274575 [GRCh37]
Chr5:5p15.2
benign
GRCh37/hg19 5p15.2(chr5:10265076-10274711)x0 copy number loss not provided [RCV000744418] Chr5:10265076..10274711 [GRCh37]
Chr5:5p15.2
likely benign
GRCh37/hg19 5p15.2(chr5:10265076-10274815)x0 copy number loss not provided [RCV000744419] Chr5:10265076..10274815 [GRCh37]
Chr5:5p15.2
benign
GRCh37/hg19 5p15.2(chr5:10265277-10274711)x0 copy number loss not provided [RCV000744420] Chr5:10265277..10274711 [GRCh37]
Chr5:5p15.2
benign
NM_012073.5(CCT5):c.1179+301A>G single nucleotide variant not provided [RCV001533855] Chr5:10262046 [GRCh38]
Chr5:10262158 [GRCh37]
Chr5:5p15.2
benign
NM_012073.5(CCT5):c.530+100C>T single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001554718] Chr5:10256253 [GRCh38]
Chr5:10256365 [GRCh37]
Chr5:5p15.2
benign
NM_012073.5(CCT5):c.994-130C>T single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001554720] Chr5:10261430 [GRCh38]
Chr5:10261542 [GRCh37]
Chr5:5p15.2
benign
NM_012073.5(CCT5):c.207T>C (p.Thr69=) single nucleotide variant not provided [RCV000927597] Chr5:10254714 [GRCh38]
Chr5:10254826 [GRCh37]
Chr5:5p15.2
likely benign
NM_012073.5(CCT5):c.723+10T>C single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001493138]|not provided [RCV000944174] Chr5:10258313 [GRCh38]
Chr5:10258425 [GRCh37]
Chr5:5p15.2
likely benign
NM_012073.5(CCT5):c.1206T>C (p.Leu402=) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000865243] Chr5:10262507 [GRCh38]
Chr5:10262619 [GRCh37]
Chr5:5p15.2
likely benign
NM_012073.5(CCT5):c.424C>T (p.Arg142Cys) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001042831] Chr5:10256047 [GRCh38]
Chr5:10256159 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.651C>A (p.Gly217=) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001468899]|not provided [RCV000939825] Chr5:10258231 [GRCh38]
Chr5:10258343 [GRCh37]
Chr5:5p15.2
likely benign
GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925) copy number loss 5p partial monosomy syndrome [RCV000767709] Chr5:140474..26906925 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
NM_012073.5(CCT5):c.166+8del deletion Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000861775] Chr5:10254213 [GRCh38]
Chr5:10254325 [GRCh37]
Chr5:5p15.2
likely benign|conflicting interpretations of pathogenicity
NM_012073.5(CCT5):c.1161T>C (p.Ile387=) single nucleotide variant not provided [RCV000865646] Chr5:10261727 [GRCh38]
Chr5:10261839 [GRCh37]
Chr5:5p15.2
likely benign
NM_012073.5(CCT5):c.426_427inv (p.Val143Ile) inversion Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000813775] Chr5:10256049..10256050 [GRCh38]
Chr5:10256161..10256162 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.602G>A (p.Arg201Gln) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000823582] Chr5:10258182 [GRCh38]
Chr5:10258294 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.748A>G (p.Ile250Val) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV000802071] Chr5:10258410 [GRCh38]
Chr5:10258522 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.*1257A>G single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001151403] Chr5:10266040 [GRCh38]
Chr5:10266152 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.166+7G>C single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001401540]|not provided [RCV000942429] Chr5:10254212 [GRCh38]
Chr5:10254324 [GRCh37]
Chr5:5p15.2
likely benign
GRCh37/hg19 5p15.2(chr5:10186394-10983657)x3 copy number gain not provided [RCV000847635] Chr5:10186394..10983657 [GRCh37]
Chr5:5p15.2
uncertain significance
GRCh37/hg19 5p15.33-15.2(chr5:113576-11767720)x1 copy number loss not provided [RCV001005644] Chr5:113576..11767720 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
NM_012073.5(CCT5):c.1005C>T (p.Ile335=) single nucleotide variant not provided [RCV000869642] Chr5:10261571 [GRCh38]
Chr5:10261683 [GRCh37]
Chr5:5p15.2
likely benign
GRCh37/hg19 5p15.33-14.2(chr5:113576-23364376)x1 copy number loss not provided [RCV001005642] Chr5:113576..23364376 [GRCh37]
Chr5:5p15.33-14.2
pathogenic
NM_012073.5(CCT5):c.1072C>T (p.Leu358Phe) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001202814] Chr5:10261638 [GRCh38]
Chr5:10261750 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.1433G>A (p.Arg478Gln) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001228698] Chr5:10263249 [GRCh38]
Chr5:10263361 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.649G>A (p.Gly217Ser) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001215051] Chr5:10258229 [GRCh38]
Chr5:10258341 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.1357G>A (p.Asp453Asn) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001205428] Chr5:10263173 [GRCh38]
Chr5:10263285 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.531-13G>T single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001156619] Chr5:10258098 [GRCh38]
Chr5:10258210 [GRCh37]
Chr5:5p15.2
uncertain significance
GRCh37/hg19 5p15.33-14.3(chr5:71904-22078969) copy number loss 5p partial monosomy syndrome [RCV001195139] Chr5:71904..22078969 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
NM_012073.5(CCT5):c.-56C>T single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001154107] Chr5:10250285 [GRCh38]
Chr5:10250397 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.87G>A (p.Met29Ile) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001154940] Chr5:10250427 [GRCh38]
Chr5:10250539 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.331+14A>T single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001154942] Chr5:10254852 [GRCh38]
Chr5:10254964 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.994-13C>T single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001151145] Chr5:10261547 [GRCh38]
Chr5:10261659 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.*670T>A single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001155167] Chr5:10265453 [GRCh38]
Chr5:10265565 [GRCh37]
Chr5:5p15.2
benign
NM_012073.5(CCT5):c.331+71T>C single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001554716] Chr5:10254909 [GRCh38]
Chr5:10255021 [GRCh37]
Chr5:5p15.2
benign
NM_012073.5(CCT5):c.531-98G>A single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001554719] Chr5:10258013 [GRCh38]
Chr5:10258125 [GRCh37]
Chr5:5p15.2
benign
NM_012073.5(CCT5):c.1179+109G>A single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001554721] Chr5:10261854 [GRCh38]
Chr5:10261966 [GRCh37]
Chr5:5p15.2
benign
NM_012073.5(CCT5):c.1498+28del deletion Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001554722] Chr5:10263342 [GRCh38]
Chr5:10263454 [GRCh37]
Chr5:5p15.2
benign
NM_012073.5(CCT5):c.994-6A>C single nucleotide variant not provided [RCV000943098] Chr5:10261554 [GRCh38]
Chr5:10261666 [GRCh37]
Chr5:5p15.2
likely benign
NM_012073.5(CCT5):c.1318-8C>T single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001489170]|not provided [RCV000866547] Chr5:10263126 [GRCh38]
Chr5:10263238 [GRCh37]
Chr5:5p15.2
likely benign
NM_012073.5(CCT5):c.106-10G>C single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001484591]|not provided [RCV000870184] Chr5:10254135 [GRCh38]
Chr5:10254247 [GRCh37]
Chr5:5p15.2
likely benign
NM_012073.5(CCT5):c.1425C>T (p.Thr475=) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001155055] Chr5:10263241 [GRCh38]
Chr5:10263353 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.*775C>G single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001155170] Chr5:10265558 [GRCh38]
Chr5:10265670 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.1141A>C (p.Arg381=) single nucleotide variant not provided [RCV000891200] Chr5:10261707 [GRCh38]
Chr5:10261819 [GRCh37]
Chr5:5p15.2
likely benign
NM_012073.5(CCT5):c.331+133A>C single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001554717] Chr5:10254971 [GRCh38]
Chr5:10255083 [GRCh37]
Chr5:5p15.2
benign
NM_012073.5(CCT5):c.1498+36_1498+38del deletion Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001554724] Chr5:10263350..10263352 [GRCh38]
Chr5:10263462..10263464 [GRCh37]
Chr5:5p15.2
benign
GRCh37/hg19 5p15.33-15.2(chr5:1322680-10762544)x1 copy number loss not provided [RCV001005649] Chr5:1322680..10762544 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
NM_012073.5(CCT5):c.*161C>T single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001156718] Chr5:10264944 [GRCh38]
Chr5:10265056 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.1615T>C (p.Ser539Pro) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001155057] Chr5:10264772 [GRCh38]
Chr5:10264884 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.*749A>G single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001155168] Chr5:10265532 [GRCh38]
Chr5:10265644 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.*176G>C single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001156719] Chr5:10264959 [GRCh38]
Chr5:10265071 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.*856A>C single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001156818] Chr5:10265639 [GRCh38]
Chr5:10265751 [GRCh37]
Chr5:5p15.2
benign
NM_012073.5(CCT5):c.*889C>A single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001156820] Chr5:10265672 [GRCh38]
Chr5:10265784 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.918T>C (p.Phe306=) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001151143] Chr5:10260836 [GRCh38]
Chr5:10260948 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.1075G>A (p.Val359Ile) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001151146] Chr5:10261641 [GRCh38]
Chr5:10261753 [GRCh37]
Chr5:5p15.2
conflicting interpretations of pathogenicity|uncertain significance
NM_012073.5(CCT5):c.*1289T>C single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001151404] Chr5:10266072 [GRCh38]
Chr5:10266184 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_001306153.1(CCT5):c.42+184G>A single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001154106] Chr5:10250229 [GRCh38]
Chr5:10250341 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.1519A>G (p.Ile507Val) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001155056] Chr5:10264676 [GRCh38]
Chr5:10264788 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.*797G>A single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001155171] Chr5:10265580 [GRCh38]
Chr5:10265692 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.1120A>G (p.Ile374Val) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001154215] Chr5:10261686 [GRCh38]
Chr5:10261798 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.*1603G>A single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001154431] Chr5:10266386 [GRCh38]
Chr5:10266498 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.1270G>T (p.Ala424Ser) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001154217] Chr5:10262571 [GRCh38]
Chr5:10262683 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.1283C>G (p.Ser428Cys) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001154218] Chr5:10262584 [GRCh38]
Chr5:10262696 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.*1382C>T single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001154425] Chr5:10266165 [GRCh38]
Chr5:10266277 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.*1427G>A single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001154429] Chr5:10266210 [GRCh38]
Chr5:10266322 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.*1483G>A single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001154430] Chr5:10266266 [GRCh38]
Chr5:10266378 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.1498+31G>A single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001554723] Chr5:10263345 [GRCh38]
Chr5:10263457 [GRCh37]
Chr5:5p15.2
benign
NM_012073.5(CCT5):c.1443G>C (p.Gln481His) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001039604] Chr5:10263259 [GRCh38]
Chr5:10263371 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.968G>A (p.Arg323His) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001151144] Chr5:10260886 [GRCh38]
Chr5:10260998 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.*1174C>A single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001151402] Chr5:10265957 [GRCh38]
Chr5:10266069 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.*1294A>G single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001151405] Chr5:10266077 [GRCh38]
Chr5:10266189 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.1216T>G (p.Leu406Val) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001154216] Chr5:10262517 [GRCh38]
Chr5:10262629 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.*567G>A single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001154334] Chr5:10265350 [GRCh38]
Chr5:10265462 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.*1404T>G single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001154427] Chr5:10266187 [GRCh38]
Chr5:10266299 [GRCh37]
Chr5:5p15.2
uncertain significance
GRCh37/hg19 5p15.33-15.2(chr5:113576-14738180)x1 copy number loss not provided [RCV001005643] Chr5:113576..14738180 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
NM_012073.5(CCT5):c.112A>G (p.Ile38Val) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001154941] Chr5:10254151 [GRCh38]
Chr5:10254263 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.*5A>C single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001155058] Chr5:10264788 [GRCh38]
Chr5:10264900 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.*756C>G single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001155169] Chr5:10265539 [GRCh38]
Chr5:10265651 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.*386T>C single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001151271] Chr5:10265169 [GRCh38]
Chr5:10265281 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.*882C>G single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001156819] Chr5:10265665 [GRCh38]
Chr5:10265777 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.*1400A>G single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001154426] Chr5:10266183 [GRCh38]
Chr5:10266295 [GRCh37]
Chr5:5p15.2
benign
NM_012073.5(CCT5):c.*1405T>C single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001154428] Chr5:10266188 [GRCh38]
Chr5:10266300 [GRCh37]
Chr5:5p15.2
uncertain significance
GRCh37/hg19 5p15.2(chr5:10140764-10671308)x3 copy number gain not provided [RCV001258841] Chr5:10140764..10671308 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.664A>T (p.Thr222Ser) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001331726] Chr5:10258244 [GRCh38]
Chr5:10258356 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.1388_1389del (p.Leu462_Ser463insTer) microsatellite Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001331725] Chr5:10263200..10263201 [GRCh38]
Chr5:10263312..10263313 [GRCh37]
Chr5:5p15.2
pathogenic
NM_001306153.1(CCT5):c.-79_-69del deletion not provided [RCV001538700] Chr5:10249925..10249935 [GRCh38]
Chr5:10250037..10250047 [GRCh37]
Chr5:5p15.2
benign
NM_012073.5(CCT5):c.1078C>A (p.Gln360Lys) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001351265] Chr5:10261644 [GRCh38]
Chr5:10261756 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.271A>G (p.Met91Val) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001342407] Chr5:10254778 [GRCh38]
Chr5:10254890 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.1378A>G (p.Met460Val) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001340821] Chr5:10263194 [GRCh38]
Chr5:10263306 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.1229G>A (p.Arg410Gln) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001320812] Chr5:10262530 [GRCh38]
Chr5:10262642 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.1499-10T>G single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001371551] Chr5:10264646 [GRCh38]
Chr5:10264758 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.610G>A (p.Val204Ile) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001363514] Chr5:10258190 [GRCh38]
Chr5:10258302 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.1250G>A (p.Arg417His) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001370101] Chr5:10262551 [GRCh38]
Chr5:10262663 [GRCh37]
Chr5:5p15.2
uncertain significance
NM_012073.5(CCT5):c.1041G>A (p.Glu347=) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001484361] Chr5:10261607 [GRCh38]
Chr5:10261719 [GRCh37]
Chr5:5p15.2
likely benign
NM_012073.5(CCT5):c.1318-4C>T single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001452440] Chr5:10263130 [GRCh38]
Chr5:10263242 [GRCh37]
Chr5:5p15.2
likely benign
NM_012073.5(CCT5):c.222G>A (p.Gly74=) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001453787] Chr5:10254729 [GRCh38]
Chr5:10254841 [GRCh37]
Chr5:5p15.2
likely benign
NM_012073.5(CCT5):c.840C>T (p.Tyr280=) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001435413] Chr5:10258502 [GRCh38]
Chr5:10258614 [GRCh37]
Chr5:5p15.2
likely benign
NM_012073.5(CCT5):c.1209C>T (p.His403=) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001491049] Chr5:10262510 [GRCh38]
Chr5:10262622 [GRCh37]
Chr5:5p15.2
likely benign
NM_012073.5(CCT5):c.993+10T>A single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001496355] Chr5:10260921 [GRCh38]
Chr5:10261033 [GRCh37]
Chr5:5p15.2
likely benign
NM_012073.5(CCT5):c.738G>C (p.Ala246=) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001453480] Chr5:10258400 [GRCh38]
Chr5:10258512 [GRCh37]
Chr5:5p15.2
likely benign
NM_012073.5(CCT5):c.1050C>T (p.Ala350=) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001483839] Chr5:10261616 [GRCh38]
Chr5:10261728 [GRCh37]
Chr5:5p15.2
likely benign
NM_012073.5(CCT5):c.318C>T (p.Thr106=) single nucleotide variant Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [RCV001462095] Chr5:10254825 [GRCh38]
Chr5:10254937 [GRCh37]
Chr5:5p15.2
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1618 AgrOrtholog
COSMIC CCT5 COSMIC
Ensembl Genes ENSG00000150753 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000280326 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000422744 UniProtKB/TrEMBL
  ENSP00000423052 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000423087 UniProtKB/TrEMBL
  ENSP00000423318 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000425751 UniProtKB/TrEMBL
  ENSP00000426923 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000427297 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000487128 UniProtKB/TrEMBL
Ensembl Transcript ENST00000280326 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000503026 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000503454 UniProtKB/TrEMBL
  ENST00000506600 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000511700 UniProtKB/TrEMBL
  ENST00000512975 UniProtKB/TrEMBL
  ENST00000515390 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000515676 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000625723 UniProtKB/TrEMBL
Gene3D-CATH 1.10.560.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.260.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.50.7.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000150753 GTEx
HGNC ID HGNC:1618 ENTREZGENE
Human Proteome Map CCT5 Human Proteome Map
InterPro Chap_CCT_epsi UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Chaperone_TCP-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Chaperonin_TCP-1_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cpn60/TCP-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GroEL-like_apical_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GROEL-like_equatorial_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TCP-1-like_intermed_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:22948 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 22948 ENTREZGENE
OMIM 256840 OMIM
  610150 OMIM
Pfam Cpn60_TCP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26182 PharmGKB
PRINTS TCOMPLEXTCP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TCP1_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TCP1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TCP1_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48592 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52029 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54849 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs chap_CCT_epsi UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DDU6 ENTREZGENE, UniProtKB/TrEMBL
  B4DX08 ENTREZGENE, UniProtKB/TrEMBL
  B4DYC8 ENTREZGENE, UniProtKB/TrEMBL
  B7ZAR1 ENTREZGENE, UniProtKB/TrEMBL
  D6RIZ7_HUMAN UniProtKB/TrEMBL
  E7ENZ3 ENTREZGENE, UniProtKB/TrEMBL
  E9PCA1 ENTREZGENE, UniProtKB/TrEMBL
  H0Y914_HUMAN UniProtKB/TrEMBL
  H0Y958_HUMAN UniProtKB/TrEMBL
  P48643 ENTREZGENE, UniProtKB/Swiss-Prot
  V9HW37 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A8JZY8 UniProtKB/Swiss-Prot
  A8K2X8 UniProtKB/Swiss-Prot
  B4DYD8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-12 CCT5  chaperonin containing TCP1 subunit 5    chaperonin containing TCP1, subunit 5 (epsilon)  Symbol and/or name change 5135510 APPROVED