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:1618
Description: Enables several functions, including G-protein beta-subunit binding activity; beta-tubulin binding activity; and mRNA binding activity. Involved in chaperone mediated protein folding independent of cofactor; protein stabilization; and response to virus. Located in centrosome and microtubule. Part of chaperonin-containing T-complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CCT-epsilon; CCTE; chaperonin containing T-complex polypeptide 1 subunit 5; chaperonin containing TCP1, subunit 5 (epsilon); epididymis secretory protein Li 69; HEL-S-69; HSNSP; 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 Orthologs
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
GRCh38510,249,921 - 10,266,412 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl510,249,929 - 10,266,389 (+)EnsemblGRCh38hg38GRCh38
GRCh37510,250,033 - 10,266,524 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36510,303,282 - 10,319,501 (+)NCBINCBI36Build 36hg18NCBI36
Build 34510,303,281 - 10,319,500NCBI
Celera510,290,174 - 10,306,401 (+)NCBICelera
Cytogenetic Map5p15.2NCBI
HuRef510,236,593 - 10,252,821 (+)NCBIHuRef
CHM1_1510,250,148 - 10,266,375 (+)NCBICHM1_1
T2T-CHM13v2.0510,189,222 - 10,205,724 (+)NCBIT2T-CHM13v2.0
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)
17beta-estradiol  (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-dimethoxyphenol  (EXP)
2,6-dinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
Aroclor 1254  (ISO)
arsenite(3-)  (EXP)
atrazine  (EXP)
bathocuproine disulfonic acid  (EXP)
beauvericin  (EXP)
beta-lapachone  (EXP)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
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)
DDE  (EXP)
Dibutyl phosphate  (EXP)
dicrotophos  (EXP)
doxorubicin  (EXP)
enniatin  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (EXP,ISO)
FR900359  (EXP)
furan  (ISO)
furfural  (EXP)
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)
nitrates  (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)
resveratrol  (EXP)
rotenone  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sodium chloride  (EXP)
sodium dichromate  (ISO)
tamoxifen  (ISO)
temozolomide  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
trimellitic anhydride  (ISO)
ursodeoxycholic acid  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP)
warfarin  (ISO)
zearalenone  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cell body  (IEA)
centrosome  (IDA,IEA)
chaperonin-containing T-complex  (IBA,IDA,IEA,IPI,TAS)
cytoplasm  (IEA)
cytoskeleton  (IEA)
cytosol  (TAS)
extracellular exosome  (HDA)
microtubule  (IDA,IEA)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
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:22133715   PMID:22232265   PMID:22268729   PMID:22304920   PMID:22505724   PMID:22586326   PMID:22623428   PMID:22653443   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:23508102   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:26912792   PMID:26972000   PMID:26990986   PMID:27025967   PMID:27114451   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:28524877   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:30274258   PMID:30425250   PMID:30442662   PMID:30455355   PMID:30463901   PMID:30472188   PMID:30515972   PMID:30575818   PMID:30737378  
PMID:30745168   PMID:30773093   PMID:30833792   PMID:30884312   PMID:30890647   PMID:30948266   PMID:30955883   PMID:30995489   PMID:31059266   PMID:31091453   PMID:31152661   PMID:31239290  
PMID:31300519   PMID:31353912   PMID:31363146   PMID:31405213   PMID:31527615   PMID:31586073   PMID:31665637   PMID:31722399   PMID:31732153   PMID:31839598   PMID:31980649   PMID:32129710  
PMID:32296183   PMID:32347575   PMID:32416067   PMID:32513696   PMID:32529326   PMID:32665550   PMID:32687490   PMID:32694731   PMID:32698014   PMID:32707033   PMID:32786267   PMID:32807901  
PMID:32814053   PMID:32850835   PMID:32877691   PMID:32929329   PMID:32963011   PMID:32994395   PMID:33022573   PMID:33076433   PMID:33137104   PMID:33144677   PMID:33226137   PMID:33239621  
PMID:33306668   PMID:33545068   PMID:33567341   PMID:33660365   PMID:33729478   PMID:33731348   PMID:33762435   PMID:33863777   PMID:33961781   PMID:34004371   PMID:34079125   PMID:34185411  
PMID:34189442   PMID:34217974   PMID:34349018   PMID:34373451   PMID:34428256   PMID:34645483   PMID:34687317   PMID:34728620   PMID:34732716   PMID:34901782   PMID:35140242   PMID:35194191  
PMID:35205757   PMID:35235311   PMID:35256949   PMID:35271311   PMID:35446349   PMID:35509820   PMID:35530310   PMID:35546148   PMID:35563538   PMID:35652658   PMID:35676659   PMID:35776542  
PMID:35777956   PMID:35831314   PMID:35831895   PMID:35844135   PMID:35906200   PMID:35944360   PMID:35973989   PMID:36030824   PMID:36114006   PMID:36129980   PMID:36168627   PMID:36180891  
PMID:36215168   PMID:36232890   PMID:36244648   PMID:36266428   PMID:36282215   PMID:36414381   PMID:36424410   PMID:36517590   PMID:36526897   PMID:36574265   PMID:36610398   PMID:36652389  
PMID:36715408   PMID:36724073   PMID:36762613   PMID:36768350   PMID:36774506   PMID:36929488   PMID:37059091   PMID:37071682   PMID:37108203   PMID:37151849   PMID:37167062   PMID:37223481  
PMID:37314216   PMID:37317656   PMID:37506885   PMID:37689310   PMID:37788672   PMID:37827155   PMID:37929963   PMID:38113892   PMID:38172120   PMID:38177924   PMID:38280479   PMID:38334954  
PMID:39231216   PMID:39286844   PMID:39422127   PMID:39501047  


Genomics

Comparative Map Data
CCT5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38510,249,921 - 10,266,412 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl510,249,929 - 10,266,389 (+)EnsemblGRCh38hg38GRCh38
GRCh37510,250,033 - 10,266,524 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36510,303,282 - 10,319,501 (+)NCBINCBI36Build 36hg18NCBI36
Build 34510,303,281 - 10,319,500NCBI
Celera510,290,174 - 10,306,401 (+)NCBICelera
Cytogenetic Map5p15.2NCBI
HuRef510,236,593 - 10,252,821 (+)NCBIHuRef
CHM1_1510,250,148 - 10,266,375 (+)NCBICHM1_1
T2T-CHM13v2.0510,189,222 - 10,205,724 (+)NCBIT2T-CHM13v2.0
Cct5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391531,590,946 - 31,601,992 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1531,590,946 - 31,601,950 (-)EnsemblGRCm39 Ensembl
GRCm381531,590,800 - 31,601,846 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1531,590,800 - 31,601,804 (-)EnsemblGRCm38mm10GRCm38
MGSCv371531,520,639 - 31,531,559 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361531,535,473 - 31,546,393 (-)NCBIMGSCv36mm8
Celera1532,284,699 - 32,295,619 (-)NCBICelera
Cytogenetic Map15B2NCBI
cM Map1513.02NCBI
Cct5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8284,302,621 - 84,313,773 (-)NCBIGRCr8
mRatBN7.2282,591,750 - 82,602,903 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl282,590,630 - 82,602,930 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx289,634,005 - 89,645,161 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0287,755,580 - 87,766,736 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0282,811,868 - 82,823,024 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
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 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1283,626,748 - 83,637,899 (-)NCBI
Celera278,115,574 - 78,126,621 (-)NCBICelera
Cytogenetic Map2q23NCBI
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
NHGRI_mPanPan1-v2410,494,737 - 10,509,640 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan158,648,343 - 8,663,246 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0510,565,911 - 10,580,808 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1510,424,157 - 10,440,613 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl510,424,157 - 10,440,613 (+)Ensemblpanpan1.1panPan2
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 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0343,938,380 - 3,951,603 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl343,938,476 - 3,951,486 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1343,990,220 - 4,003,422 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0343,969,548 - 3,982,775 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0344,200,135 - 4,213,334 (-)NCBIUU_Cfam_GSD_1.0
Cct5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213237,034,724 - 237,047,654 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366432,354,799 - 2,368,048 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
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 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl49,787,101 - 9,805,852 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606418,741,362 - 18,757,404 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cct5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247517,615,007 - 7,630,606 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247517,615,098 - 7,628,985 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CCT5
312 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_012073.5(CCT5):c.1194G>A (p.Ala398=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000528806]|not provided [RCV004716543]|not specified [RCV001700407] Chr5:10262495 [GRCh38]
Chr5:10262607 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.895C>G (p.Leu299Val) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000552383]|not specified [RCV004024005] Chr5:10260813 [GRCh38]
Chr5:10260925 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.440A>G (p.His147Arg) single nucleotide variant CCT5-related disorder [RCV003952334]|Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000001390]|not provided [RCV000434241] Chr5:10256063 [GRCh38]
Chr5:10256175 [GRCh37]
Chr5:5p15.2		 pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
NM_012073.5(CCT5):c.1359C>T (p.Asp453=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000641271] Chr5:10263175 [GRCh38]
Chr5:10263287 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.1308G>A (p.Glu436=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000641272] Chr5:10262609 [GRCh38]
Chr5:10262721 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.1336T>C (p.Tyr446His) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000526877] Chr5:10263152 [GRCh38]
Chr5:10263264 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1132A>G (p.Lys378Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [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 Hereditary sensory and autonomic neuropathy with spastic paraplegia [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 Hereditary sensory and autonomic neuropathy with spastic paraplegia [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 Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000862439]|not provided [RCV001701866]|not specified [RCV001700001] 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 Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003600375]|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 sensory and autonomic neuropathy with spastic paraplegia [RCV001367889]|Hereditary spastic paraplegia [RCV000516135] 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 Hereditary sensory and autonomic neuropathy with spastic paraplegia [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 Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000226591]|not provided [RCV001610543] Chr5:10256060 [GRCh38]
Chr5:10256172 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_012073.5(CCT5):c.738G>A (p.Ala246=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000229368]|not provided [RCV001711639] 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 Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000267908] Chr5:10262484 [GRCh38]
Chr5:10262596 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.*1042T>C single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000284616] Chr5:10265825 [GRCh38]
Chr5:10265937 [GRCh37]
Chr5:5p15.2		 likely benign|uncertain significance
NM_012073.4(CCT5):c.-125A>G single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000285904] Chr5:10250216 [GRCh38]
Chr5:10250328 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.954C>T (p.Asn318=) single nucleotide variant CCT5-related disorder [RCV003925648]|Hereditary sensory and autonomic neuropathy with spastic paraplegia [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 Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000278026] Chr5:10265624 [GRCh38]
Chr5:10265736 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.*69C>T single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000352484] Chr5:10264852 [GRCh38]
Chr5:10264964 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1346G>A (p.Arg449Lys) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001061129] Chr5:10263162 [GRCh38]
Chr5:10263274 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.86T>C (p.Met29Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000641269]|not provided [RCV003437115] Chr5:10250426 [GRCh38]
Chr5:10250538 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.*513G>C single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000300208]|not provided [RCV004716309] Chr5:10265296 [GRCh38]
Chr5:10265408 [GRCh37]
Chr5:5p15.2		 benign|uncertain significance
NM_012073.5(CCT5):c.531-10T>G single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000314541] Chr5:10258101 [GRCh38]
Chr5:10258213 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.*420T>C single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [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 Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000357468] Chr5:10265349 [GRCh38]
Chr5:10265461 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.677A>G (p.Lys226Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000403343] Chr5:10258257 [GRCh38]
Chr5:10258369 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1070G>A (p.Gly357Asp) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000862527] Chr5:10261636 [GRCh38]
Chr5:10261748 [GRCh37]
Chr5:5p15.2		 likely benign|uncertain significance
NM_012073.5(CCT5):c.*181C>T single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000381495]|not provided [RCV001683394] 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 Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000305058]|not provided [RCV004716308] Chr5:10265166 [GRCh38]
Chr5:10265278 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.*347T>C single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000340265] Chr5:10265130 [GRCh38]
Chr5:10265242 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.*205T>C single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000288913] Chr5:10264988 [GRCh38]
Chr5:10265100 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.*1087A>T single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000341986] Chr5:10265870 [GRCh38]
Chr5:10265982 [GRCh37]
Chr5:5p15.2		 likely benign|uncertain significance
NM_012073.5(CCT5):c.*320T>C single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000408210] Chr5:10265103 [GRCh38]
Chr5:10265215 [GRCh37]
Chr5:5p15.2		 benign|uncertain significance
NM_012073.5(CCT5):c.-59A>G single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000324598] Chr5:10250282 [GRCh38]
Chr5:10250394 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.648C>G (p.Gly216=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000343638] Chr5:10258228 [GRCh38]
Chr5:10258340 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.*866A>C single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000325936]|not provided [RCV004716312] Chr5:10265649 [GRCh38]
Chr5:10265761 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_012073.5(CCT5):c.878A>T (p.Lys293Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000692306] Chr5:10260796 [GRCh38]
Chr5:10260908 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.*67A>G single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000295243]|not provided [RCV001712146] 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 Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000311181] Chr5:10266184 [GRCh38]
Chr5:10266296 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.*1377C>G single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000392459] Chr5:10266160 [GRCh38]
Chr5:10266272 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_012073.5(CCT5):c.*1126T>A single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000392468]|not provided [RCV004695821] Chr5:10265909 [GRCh38]
Chr5:10266021 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1474G>C (p.Asp492His) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000330281] Chr5:10263290 [GRCh38]
Chr5:10263402 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.426T>C (p.Arg142=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000602560]|not provided [RCV001712145]|not specified [RCV001700079] Chr5:10256049 [GRCh38]
Chr5:10256161 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.*776T>C single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000331665] Chr5:10265559 [GRCh38]
Chr5:10265671 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.-48C>T single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000372266] Chr5:10250293 [GRCh38]
Chr5:10250405 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.*593A>G single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000274243]|not provided [RCV004716310] Chr5:10265376 [GRCh38]
Chr5:10265488 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.-23G>A single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000603138]|not provided [RCV001653682]|not specified [RCV001700339] Chr5:10250318 [GRCh38]
Chr5:10250430 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.*1172G>T single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000278944]|not provided [RCV004716313] Chr5:10265955 [GRCh38]
Chr5:10266067 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.198A>G (p.Gly66=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000615007]|not provided [RCV001712144]|not specified [RCV001700340] Chr5:10254705 [GRCh38]
Chr5:10254817 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.1317+10C>A single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000609847]|not provided [RCV001683393]|not specified [RCV001700080] 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 Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000610291]|not provided [RCV001683392]|not specified [RCV001700000] Chr5:10250331 [GRCh38]
Chr5:10250443 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.*824C>G single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000388774]|not provided [RCV004716311] Chr5:10265607 [GRCh38]
Chr5:10265719 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.*382C>T single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000404644]|not provided [RCV004716307] Chr5:10265165 [GRCh38]
Chr5:10265277 [GRCh37]
Chr5:5p15.2		 benign
GRCh37/hg19 5p15.33-13.3(chr5:113576-30712376)x1 copy number loss See cases [RCV002285039] Chr5:113576..30712376 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
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 Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000387109] Chr5:10264808 [GRCh38]
Chr5:10264920 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.*1239C>G single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000336310] Chr5:10266022 [GRCh38]
Chr5:10266134 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1316A>C (p.Lys439Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000553173] Chr5:10262617 [GRCh38]
Chr5:10262729 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.*345T>C single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000301694] Chr5:10265128 [GRCh38]
Chr5:10265240 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1051G>A (p.Glu351Lys) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [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 CCT5-related disorder [RCV003953145]|Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000641273] Chr5:10254139 [GRCh38]
Chr5:10254251 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.753C>T (p.Leu251=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001477653]|not provided [RCV003431086] Chr5:10258415 [GRCh38]
Chr5:10258527 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.1044C>T (p.Leu348=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000535772] Chr5:10261610 [GRCh38]
Chr5:10261722 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.1311G>A (p.Ala437=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [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 Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000459866]|not specified [RCV004022551] 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 CCT5-related disorder [RCV003905732]|Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000641270] Chr5:10258380 [GRCh38]
Chr5:10258492 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.1350G>A (p.Ala450=) single nucleotide variant CCT5-related disorder [RCV003965359]|Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000641274]|not provided [RCV004717697] Chr5:10263166 [GRCh38]
Chr5:10263278 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_012073.5(CCT5):c.1180-4T>C single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [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 Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000698257] Chr5:10256000 [GRCh38]
Chr5:10256112 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1310C>T (p.Ala437Val) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000698154] Chr5:10262611 [GRCh38]
Chr5:10262723 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.332-18C>G single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001001817]|not provided [RCV001675979] 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.874-328A>G single nucleotide variant not provided [RCV001612455] Chr5:10260464 [GRCh38]
Chr5:10260576 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.874-248_874-247insT insertion not provided [RCV001680439] Chr5:10260544..10260545 [GRCh38]
Chr5:10260656..10260657 [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 Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001554718]|not provided [RCV001615327] Chr5:10256253 [GRCh38]
Chr5:10256365 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.994-238G>C single nucleotide variant not provided [RCV001691032] Chr5:10261322 [GRCh38]
Chr5:10261434 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.994-130C>T single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001554720]|not provided [RCV001713054] Chr5:10261430 [GRCh38]
Chr5:10261542 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.1180-188G>A single nucleotide variant not provided [RCV001666601] Chr5:10262293 [GRCh38]
Chr5:10262405 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.207T>C (p.Thr69=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV005092792] Chr5:10254714 [GRCh38]
Chr5:10254826 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.723+10T>C single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001493138] Chr5:10258313 [GRCh38]
Chr5:10258425 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.1206T>C (p.Leu402=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000865243] Chr5:10262507 [GRCh38]
Chr5:10262619 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.424C>T (p.Arg142Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001042831] Chr5:10256047 [GRCh38]
Chr5:10256159 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.651C>A (p.Gly217=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001468899] 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 CCT5-related disorder [RCV003975376]|Hereditary sensory and autonomic neuropathy with spastic paraplegia [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 Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003495188] Chr5:10261727 [GRCh38]
Chr5:10261839 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.426_427inv (p.Val143Ile) inversion Hereditary sensory and autonomic neuropathy with spastic paraplegia [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 Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000823582] Chr5:10258182 [GRCh38]
Chr5:10258294 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.748A>G (p.Ile250Val) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV000802071] Chr5:10258410 [GRCh38]
Chr5:10258522 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.*1257A>G single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001151403] Chr5:10266040 [GRCh38]
Chr5:10266152 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.166+7G>C single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001401540] 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 Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001804017] 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 Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001202814] Chr5:10261638 [GRCh38]
Chr5:10261750 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1433G>A (p.Arg478Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001228698]|not specified [RCV004897667] Chr5:10263249 [GRCh38]
Chr5:10263361 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.649G>A (p.Gly217Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001215051] Chr5:10258229 [GRCh38]
Chr5:10258341 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1357G>A (p.Asp453Asn) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001205428]|not specified [RCV004033482] Chr5:10263173 [GRCh38]
Chr5:10263285 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.531-13G>T single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001156619] Chr5:10258098 [GRCh38]
Chr5:10258210 [GRCh37]
Chr5:5p15.2		 conflicting interpretations of pathogenicity|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 Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001154107] Chr5:10250285 [GRCh38]
Chr5:10250397 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.87G>A (p.Met29Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001154940] Chr5:10250427 [GRCh38]
Chr5:10250539 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.331+14A>T single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001154942] Chr5:10254852 [GRCh38]
Chr5:10254964 [GRCh37]
Chr5:5p15.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_012073.5(CCT5):c.994-13C>T single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001151145] Chr5:10261547 [GRCh38]
Chr5:10261659 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.*670T>A single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001155167] Chr5:10265453 [GRCh38]
Chr5:10265565 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.1498+3G>A single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003104882] Chr5:10263317 [GRCh38]
Chr5:10263429 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1498+191G>A single nucleotide variant not provided [RCV001666424] Chr5:10263505 [GRCh38]
Chr5:10263617 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.993+227C>G single nucleotide variant not provided [RCV001717281] Chr5:10261138 [GRCh38]
Chr5:10261250 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.331+184A>G single nucleotide variant not provided [RCV001636281] Chr5:10255022 [GRCh38]
Chr5:10255134 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.1180-227C>T single nucleotide variant not provided [RCV001637463] Chr5:10262254 [GRCh38]
Chr5:10262366 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.1498+299G>A single nucleotide variant not provided [RCV001639280] Chr5:10263613 [GRCh38]
Chr5:10263725 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.331+71T>C single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001554716]|not provided [RCV001673214] Chr5:10254909 [GRCh38]
Chr5:10255021 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.4(CCT5):c.-418_-406delAAAAAAAAAAAAC deletion not provided [RCV001687661] Chr5:10249923..10249935 [GRCh38]
Chr5:10250035..10250047 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.531-98G>A single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001554719]|not provided [RCV001713053] Chr5:10258013 [GRCh38]
Chr5:10258125 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.1179+109G>A single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001554721]|not provided [RCV001615328] Chr5:10261854 [GRCh38]
Chr5:10261966 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.1498+28del deletion Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001554722]|not provided [RCV001619987] Chr5:10263342 [GRCh38]
Chr5:10263454 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.1498+156G>A single nucleotide variant not provided [RCV001614450] Chr5:10263470 [GRCh38]
Chr5:10263582 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.1498+266T>G single nucleotide variant not provided [RCV001719340] Chr5:10263580 [GRCh38]
Chr5:10263692 [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 Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001489170] Chr5:10263126 [GRCh38]
Chr5:10263238 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.106-10G>C single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001484591] Chr5:10254135 [GRCh38]
Chr5:10254247 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.1425C>T (p.Thr475=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001155055] Chr5:10263241 [GRCh38]
Chr5:10263353 [GRCh37]
Chr5:5p15.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_012073.5(CCT5):c.*775C>G single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [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 Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001554717]|not provided [RCV001713052] Chr5:10254971 [GRCh38]
Chr5:10255083 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.1498+36_1498+38del deletion Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001554724]|not provided [RCV001658293] Chr5:10263350..10263352 [GRCh38]
Chr5:10263462..10263464 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.1498+38A>G single nucleotide variant not provided [RCV001620070] Chr5:10263352 [GRCh38]
Chr5:10263464 [GRCh37]
Chr5:5p15.2		 benign
GRCh37/hg19 5p15.31-14.3(chr5:8081005-22210970)x1 copy number loss not provided [RCV002472646] Chr5:8081005..22210970 [GRCh37]
Chr5:5p15.31-14.3		 pathogenic
NC_000005.10:g.10249898A>T single nucleotide variant not provided [RCV001684575] Chr5:10249898 [GRCh38]
Chr5:10250010 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.331+146_331+147insCT insertion not provided [RCV001671606] Chr5:10254984..10254985 [GRCh38]
Chr5:10255096..10255097 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.4(CCT5):c.-415_-406delAAAAAAAAAC deletion not provided [RCV001687905] Chr5:10249926..10249935 [GRCh38]
Chr5:10250038..10250047 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.1317+40C>T single nucleotide variant not provided [RCV001595563] Chr5:10262658 [GRCh38]
Chr5:10262770 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.1498+28A>G single nucleotide variant not provided [RCV001719219] Chr5:10263342 [GRCh38]
Chr5:10263454 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.1318-205A>C single nucleotide variant not provided [RCV001717282] Chr5:10262929 [GRCh38]
Chr5:10263041 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.1180-246G>A single nucleotide variant not provided [RCV001614936] Chr5:10262235 [GRCh38]
Chr5:10262347 [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 Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001156718] Chr5:10264944 [GRCh38]
Chr5:10265056 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1615T>C (p.Ser539Pro) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001155057] Chr5:10264772 [GRCh38]
Chr5:10264884 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.*749A>G single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001155168] Chr5:10265532 [GRCh38]
Chr5:10265644 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.*176G>C single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001156719] Chr5:10264959 [GRCh38]
Chr5:10265071 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.*856A>C single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001156818]|not provided [RCV004716705] Chr5:10265639 [GRCh38]
Chr5:10265751 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.*889C>A single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001156820] Chr5:10265672 [GRCh38]
Chr5:10265784 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.918T>C (p.Phe306=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001151143] Chr5:10260836 [GRCh38]
Chr5:10260948 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1075G>A (p.Val359Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [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 Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001151404] Chr5:10266072 [GRCh38]
Chr5:10266184 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.4(CCT5):c.-112G>A single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001154106] Chr5:10250229 [GRCh38]
Chr5:10250341 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1519A>G (p.Ile507Val) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001155056]|not specified [RCV004032814] Chr5:10264676 [GRCh38]
Chr5:10264788 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.*797G>A single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001155171] Chr5:10265580 [GRCh38]
Chr5:10265692 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1120A>G (p.Ile374Val) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001154215] Chr5:10261686 [GRCh38]
Chr5:10261798 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.*1603G>A single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001154431] Chr5:10266386 [GRCh38]
Chr5:10266498 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1270G>T (p.Ala424Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001154217]|not specified [RCV004032809] Chr5:10262571 [GRCh38]
Chr5:10262683 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1283C>G (p.Ser428Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001154218] Chr5:10262584 [GRCh38]
Chr5:10262696 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.*1382C>T single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001154425] Chr5:10266165 [GRCh38]
Chr5:10266277 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.*1427G>A single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001154429] Chr5:10266210 [GRCh38]
Chr5:10266322 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.*1483G>A single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001154430] Chr5:10266266 [GRCh38]
Chr5:10266378 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.105+171C>G single nucleotide variant not provided [RCV001670849] Chr5:10250616 [GRCh38]
Chr5:10250728 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.1498+31G>A single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001554723]|not provided [RCV004716780] Chr5:10263345 [GRCh38]
Chr5:10263457 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.1498+30G>A single nucleotide variant not provided [RCV001695989] Chr5:10263344 [GRCh38]
Chr5:10263456 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.332-246T>C single nucleotide variant not provided [RCV001613839] Chr5:10255709 [GRCh38]
Chr5:10255821 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.1443G>C (p.Gln481His) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001039604]|not specified [RCV004031113] Chr5:10263259 [GRCh38]
Chr5:10263371 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.968G>A (p.Arg323His) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001151144] Chr5:10260886 [GRCh38]
Chr5:10260998 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.*1174C>A single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001151402] Chr5:10265957 [GRCh38]
Chr5:10266069 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.*1294A>G single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001151405] Chr5:10266077 [GRCh38]
Chr5:10266189 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1216T>G (p.Leu406Val) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001154216] Chr5:10262517 [GRCh38]
Chr5:10262629 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.*567G>A single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001154334]|not provided [RCV004694972] Chr5:10265350 [GRCh38]
Chr5:10265462 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.*1404T>G single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [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 Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001154941] Chr5:10254151 [GRCh38]
Chr5:10254263 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.*5A>C single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001155058] Chr5:10264788 [GRCh38]
Chr5:10264900 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.*756C>G single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001155169] Chr5:10265539 [GRCh38]
Chr5:10265651 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.*386T>C single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001151271] Chr5:10265169 [GRCh38]
Chr5:10265281 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.*882C>G single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001156819] Chr5:10265665 [GRCh38]
Chr5:10265777 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.*1400A>G single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001154426] Chr5:10266183 [GRCh38]
Chr5:10266295 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.*1405T>C single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [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 Hereditary sensory and autonomic neuropathy with spastic paraplegia [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_012073.4(CCT5):c.-416_-406delAAAAAAAAAAC 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 Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001351265] Chr5:10261644 [GRCh38]
Chr5:10261756 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.271A>G (p.Met91Val) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001342407] Chr5:10254778 [GRCh38]
Chr5:10254890 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1378A>G (p.Met460Val) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001340821] Chr5:10263194 [GRCh38]
Chr5:10263306 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1229G>A (p.Arg410Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001320812] Chr5:10262530 [GRCh38]
Chr5:10262642 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1499-10T>G single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001371551] Chr5:10264646 [GRCh38]
Chr5:10264758 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.610G>A (p.Val204Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001363514] Chr5:10258190 [GRCh38]
Chr5:10258302 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1250G>A (p.Arg417His) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001370101]|not specified [RCV004037457] Chr5:10262551 [GRCh38]
Chr5:10262663 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1041G>A (p.Glu347=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001484361] Chr5:10261607 [GRCh38]
Chr5:10261719 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.1318-4C>T single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001452440] Chr5:10263130 [GRCh38]
Chr5:10263242 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.222G>A (p.Gly74=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001453787] Chr5:10254729 [GRCh38]
Chr5:10254841 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.840C>T (p.Tyr280=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001435413] Chr5:10258502 [GRCh38]
Chr5:10258614 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.106-140C>T single nucleotide variant not provided [RCV001645650] Chr5:10254005 [GRCh38]
Chr5:10254117 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.1209C>T (p.His403=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001491049] Chr5:10262510 [GRCh38]
Chr5:10262622 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.993+10T>A single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001496355] Chr5:10260921 [GRCh38]
Chr5:10261033 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.993+42C>T single nucleotide variant not provided [RCV001654594] Chr5:10260953 [GRCh38]
Chr5:10261065 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.738G>C (p.Ala246=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001453480] Chr5:10258400 [GRCh38]
Chr5:10258512 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.994-264T>G single nucleotide variant not provided [RCV001612366] Chr5:10261296 [GRCh38]
Chr5:10261408 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.4(CCT5):c.-417_-406delAAAAAAAAAAAC deletion not provided [RCV001708917] Chr5:10249924..10249935 [GRCh38]
Chr5:10250036..10250047 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.1050C>T (p.Ala350=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001483839] Chr5:10261616 [GRCh38]
Chr5:10261728 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.318C>T (p.Thr106=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001462095] Chr5:10254825 [GRCh38]
Chr5:10254937 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.1199G>T (p.Arg400Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001950755]|not specified [RCV004043167] Chr5:10262500 [GRCh38]
Chr5:10262612 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1A>T (p.Met1Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001863873] Chr5:10250341 [GRCh38]
Chr5:10250453 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.85A>C (p.Met29Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001911643] Chr5:10250425 [GRCh38]
Chr5:10250537 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.531-3C>T single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001909061] Chr5:10258108 [GRCh38]
Chr5:10258220 [GRCh37]
Chr5:5p15.2		 uncertain significance
GRCh37/hg19 5p15.33-15.1(chr5:113577-16952167)x1 copy number loss not provided [RCV001827855] Chr5:113577..16952167 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
NM_012073.5(CCT5):c.1123G>A (p.Glu375Lys) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001886204] Chr5:10261689 [GRCh38]
Chr5:10261801 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.548G>A (p.Arg183Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001934844] Chr5:10258128 [GRCh38]
Chr5:10258240 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1379T>C (p.Met460Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV002027151] Chr5:10263195 [GRCh38]
Chr5:10263307 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.122C>G (p.Ala41Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001918609] Chr5:10254161 [GRCh38]
Chr5:10254273 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.10A>G (p.Met4Val) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001906512]|not specified [RCV004887684] Chr5:10250350 [GRCh38]
Chr5:10250462 [GRCh37]
Chr5:5p15.2		 likely benign|uncertain significance
NM_012073.5(CCT5):c.1549A>G (p.Ile517Val) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001879532] Chr5:10264706 [GRCh38]
Chr5:10264818 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.577G>A (p.Val193Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001978140] Chr5:10258157 [GRCh38]
Chr5:10258269 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1391A>G (p.Glu464Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV001958366] Chr5:10263207 [GRCh38]
Chr5:10263319 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1623A>G (p.Glu541=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV002073896] Chr5:10264780 [GRCh38]
Chr5:10264892 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.1499-14C>A single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV002086789] Chr5:10264642 [GRCh38]
Chr5:10264754 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.874-16G>T single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV002189856]|not provided [RCV004716864] Chr5:10260776 [GRCh38]
Chr5:10260888 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.332-19_332-16del deletion Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV002124378] Chr5:10255934..10255937 [GRCh38]
Chr5:10256046..10256049 [GRCh37]
Chr5:5p15.2		 benign
NM_012073.5(CCT5):c.332-17T>C single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV002206370] Chr5:10255938 [GRCh38]
Chr5:10256050 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.759T>C (p.Cys253=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003774636]|not provided [RCV002214340] Chr5:10258421 [GRCh38]
Chr5:10258533 [GRCh37]
Chr5:5p15.2		 likely benign|uncertain significance
NM_012073.5(CCT5):c.648C>T (p.Gly216=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV002086803] Chr5:10258228 [GRCh38]
Chr5:10258340 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.36T>C (p.Tyr12=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV002210162] Chr5:10250376 [GRCh38]
Chr5:10250488 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.993+14C>T single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV002163410] Chr5:10260925 [GRCh38]
Chr5:10261037 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.1499-20A>G single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV002156306] Chr5:10264636 [GRCh38]
Chr5:10264748 [GRCh37]
Chr5:5p15.2		 likely benign
NC_000005.9:g.(?_10250453)_(10264895_?)del deletion Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003109680] Chr5:10250453..10264895 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1009A>G (p.Thr337Ala) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003114819] Chr5:10261575 [GRCh38]
Chr5:10261687 [GRCh37]
Chr5:5p15.2		 uncertain significance
GRCh37/hg19 5p15.33-15.2(chr5:113576-12601027) copy number loss 5p partial monosomy syndrome [RCV002280774] Chr5:113576..12601027 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-29310520) copy number gain 5p partial monosomy syndrome [RCV002280773] Chr5:113576..29310520 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
NM_012073.5(CCT5):c.682G>A (p.Val228Met) single nucleotide variant not provided [RCV002261762] Chr5:10258262 [GRCh38]
Chr5:10258374 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.664A>G (p.Thr222Ala) single nucleotide variant not specified [RCV004322680] Chr5:10258244 [GRCh38]
Chr5:10258356 [GRCh37]
Chr5:5p15.2		 uncertain significance
GRCh37/hg19 5p15.33-13.3(chr5:1-32091038)x1 copy number loss not provided [RCV002472712] Chr5:1..32091038 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113577-17654787)x1 copy number loss not provided [RCV002473919] Chr5:113577..17654787 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
NM_012073.5(CCT5):c.670C>G (p.Leu224Val) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV002465414]|not provided [RCV005002016] Chr5:10258250 [GRCh38]
Chr5:10258362 [GRCh37]
Chr5:5p15.2		 likely pathogenic|uncertain significance
NM_012073.5(CCT5):c.694A>G (p.Lys232Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV002301945] Chr5:10258274 [GRCh38]
Chr5:10258386 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1571T>C (p.Val524Ala) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV002295018] Chr5:10264728 [GRCh38]
Chr5:10264840 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.480G>C (p.Lys160Asn) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV002731439] Chr5:10256103 [GRCh38]
Chr5:10256215 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1024G>A (p.Val342Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003074965] Chr5:10261590 [GRCh38]
Chr5:10261702 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.924T>C (p.Asp308=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV002903060] Chr5:10260842 [GRCh38]
Chr5:10260954 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.99C>G (p.Ala33=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003034659] Chr5:10250439 [GRCh38]
Chr5:10250551 [GRCh37]
Chr5:5p15.2		 likely benign
GRCh37/hg19 5p15.33-13.3(chr5:113577-31448527)x1 copy number loss not provided [RCV002475666] Chr5:113577..31448527 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
NM_012073.5(CCT5):c.1356C>T (p.Ala452=) single nucleotide variant CCT5-related disorder [RCV003963519]|Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV002971812] Chr5:10263172 [GRCh38]
Chr5:10263284 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.1623dup (p.Ter542MetextTer?) duplication Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV002863248] Chr5:10264778..10264779 [GRCh38]
Chr5:10264890..10264891 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.33A>G (p.Glu11=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV002755388] Chr5:10250373 [GRCh38]
Chr5:10250485 [GRCh37]
Chr5:5p15.2		 likely benign|uncertain significance
NM_012073.5(CCT5):c.490C>T (p.Pro164Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV005099160]|not specified [RCV004233607] Chr5:10256113 [GRCh38]
Chr5:10256225 [GRCh37]
Chr5:5p15.2		 uncertain significance
GRCh37/hg19 5p15.33-14.1(chr5:113577-26164852)x1 copy number loss not provided [RCV002475573] Chr5:113577..26164852 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
NM_012073.5(CCT5):c.1290C>T (p.Ala430=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV002696329] Chr5:10262591 [GRCh38]
Chr5:10262703 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.166+19G>A single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV002928047] Chr5:10254224 [GRCh38]
Chr5:10254336 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.516G>A (p.Thr172=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV002952926] Chr5:10256139 [GRCh38]
Chr5:10256251 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.472G>A (p.Asp158Asn) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003495312]|not specified [RCV004146497] Chr5:10256095 [GRCh38]
Chr5:10256207 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.166+14A>G single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV002805816] Chr5:10254219 [GRCh38]
Chr5:10254331 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.106-12T>G single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV002917230] Chr5:10254133 [GRCh38]
Chr5:10254245 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.422C>A (p.Ala141Asp) single nucleotide variant not specified [RCV004113950] Chr5:10256045 [GRCh38]
Chr5:10256157 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1322C>A (p.Pro441His) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV002786720] Chr5:10263138 [GRCh38]
Chr5:10263250 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1006G>A (p.Ala336Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003085096] Chr5:10261572 [GRCh38]
Chr5:10261684 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.570G>C (p.Val190=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003007201] Chr5:10258150 [GRCh38]
Chr5:10258262 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.873+11C>G single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV002957769] Chr5:10258546 [GRCh38]
Chr5:10258658 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.1153A>G (p.Ile385Val) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV002958471] Chr5:10261719 [GRCh38]
Chr5:10261831 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.744T>G (p.Ile248Met) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV002582142]|not provided [RCV003481394] Chr5:10258406 [GRCh38]
Chr5:10258518 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.769C>A (p.Pro257Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003064090] Chr5:10258431 [GRCh38]
Chr5:10258543 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1236C>T (p.Leu412=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003062413] Chr5:10262537 [GRCh38]
Chr5:10262649 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.332-14T>C single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV002937855] Chr5:10255941 [GRCh38]
Chr5:10256053 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.1317+14G>A single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003090774] Chr5:10262632 [GRCh38]
Chr5:10262744 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.167-16A>G single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV002629152] Chr5:10254658 [GRCh38]
Chr5:10254770 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.994-5A>C single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003090538] Chr5:10261555 [GRCh38]
Chr5:10261667 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.57C>G (p.Ile19Met) single nucleotide variant CCT5-related disorder [RCV004731287]|Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV002671996] Chr5:10250397 [GRCh38]
Chr5:10250509 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1291C>T (p.Leu431=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV002714989] Chr5:10262592 [GRCh38]
Chr5:10262704 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.382A>G (p.Ile128Val) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV002601805] Chr5:10256005 [GRCh38]
Chr5:10256117 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.402C>T (p.Ala134=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV002988397] Chr5:10256025 [GRCh38]
Chr5:10256137 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.898G>A (p.Ala300Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003090282] Chr5:10260816 [GRCh38]
Chr5:10260928 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.6G>A (p.Ala2=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV002654668] Chr5:10250346 [GRCh38]
Chr5:10250458 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.1498+16G>A single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003067839] Chr5:10263330 [GRCh38]
Chr5:10263442 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.1498+15C>T single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003070514] Chr5:10263329 [GRCh38]
Chr5:10263441 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.568G>A (p.Val190Met) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV002610495] Chr5:10258148 [GRCh38]
Chr5:10258260 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1195A>C (p.Lys399Gln) single nucleotide variant not specified [RCV004322476] Chr5:10262496 [GRCh38]
Chr5:10262608 [GRCh37]
Chr5:5p15.2		 uncertain significance
GRCh37/hg19 5p15.2-15.1(chr5:10165922-18156739)x3 copy number gain Intellectual developmental disorder, autosomal dominant 63, with macrocephaly [RCV003159551] Chr5:10165922..18156739 [GRCh37]
Chr5:5p15.2-15.1		 pathogenic|likely pathogenic
NM_012073.5(CCT5):c.1451A>T (p.Glu484Val) single nucleotide variant not specified [RCV004325681] Chr5:10263267 [GRCh38]
Chr5:10263379 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.142A>G (p.Met48Val) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003337731] Chr5:10254181 [GRCh38]
Chr5:10254293 [GRCh37]
Chr5:5p15.2		 uncertain significance
GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1 copy number loss Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [RCV003327718] Chr5:9999..14320000 [GRCh38]
Chr5:5p15.33-15.2		 pathogenic
NM_012073.5(CCT5):c.1413C>G (p.Ile471Met) single nucleotide variant not specified [RCV004356196] Chr5:10263229 [GRCh38]
Chr5:10263341 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.558T>G (p.Ala186=) single nucleotide variant not provided [RCV003457126] Chr5:10258138 [GRCh38]
Chr5:10258250 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.92T>C (p.Leu31Pro) single nucleotide variant not specified [RCV004360371] Chr5:10250432 [GRCh38]
Chr5:10250544 [GRCh37]
Chr5:5p15.2		 uncertain significance
GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1 copy number loss not provided [RCV003485447] Chr5:113577..35613146 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113577-11095056)x1 copy number loss not provided [RCV003485448] Chr5:113577..11095056 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
GRCh37/hg19 5p15.31-15.1(chr5:9002950-15174932)x1 copy number loss not provided [RCV003485455] Chr5:9002950..15174932 [GRCh37]
Chr5:5p15.31-15.1		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:862398-18927500)x1 copy number loss not provided [RCV003485453] Chr5:862398..18927500 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1 copy number loss not provided [RCV003485449] Chr5:113577..30529044 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1 copy number loss not provided [RCV003485450] Chr5:113577..21529653 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
NM_012073.5(CCT5):c.205A>T (p.Thr69Ser) single nucleotide variant not provided [RCV003481748] Chr5:10254712 [GRCh38]
Chr5:10254824 [GRCh37]
Chr5:5p15.2		 uncertain significance
GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3 copy number gain not provided [RCV003484599] Chr5:113577..27800913 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
NM_012073.5(CCT5):c.761C>T (p.Pro254Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003602539] Chr5:10258423 [GRCh38]
Chr5:10258535 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.814G>A (p.Glu272Lys) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003601322] Chr5:10258476 [GRCh38]
Chr5:10258588 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.703A>G (p.Ser235Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003601490] Chr5:10258283 [GRCh38]
Chr5:10258395 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.40C>T (p.Arg14Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003876939] Chr5:10250380 [GRCh38]
Chr5:10250492 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1179+12A>G single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003601917] Chr5:10261757 [GRCh38]
Chr5:10261869 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.1248T>C (p.Asn416=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003601256] Chr5:10262549 [GRCh38]
Chr5:10262661 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.469G>T (p.Val157Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003601216] Chr5:10256092 [GRCh38]
Chr5:10256204 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.476T>A (p.Ile159Lys) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003496248] Chr5:10256099 [GRCh38]
Chr5:10256211 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.1624T>G (p.Ter542Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003486031] Chr5:10264781 [GRCh38]
Chr5:10264893 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1289C>G (p.Ala430Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003486032] Chr5:10262590 [GRCh38]
Chr5:10262702 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1564C>G (p.Gln522Glu) single nucleotide variant CCT5-related disorder [RCV004731543]|Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003496315] Chr5:10264721 [GRCh38]
Chr5:10264833 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.331+13A>G single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003601019] Chr5:10254851 [GRCh38]
Chr5:10254963 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.1A>G (p.Met1Val) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003601097] Chr5:10250341 [GRCh38]
Chr5:10250453 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.360G>A (p.Ala120=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003600795] Chr5:10255983 [GRCh38]
Chr5:10256095 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.700T>A (p.Phe234Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003495593] Chr5:10258280 [GRCh38]
Chr5:10258392 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.139A>G (p.Thr47Ala) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003602459] Chr5:10254178 [GRCh38]
Chr5:10254290 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.166+18C>T single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003601020] Chr5:10254223 [GRCh38]
Chr5:10254335 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.1199G>A (p.Arg400Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003601088] Chr5:10262500 [GRCh38]
Chr5:10262612 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.300T>C (p.Asp100=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003494944] Chr5:10254807 [GRCh38]
Chr5:10254919 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.737C>T (p.Ala246Val) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003602498]|not specified [RCV004371837] Chr5:10258399 [GRCh38]
Chr5:10258511 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.994-17C>G single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003878508] Chr5:10261543 [GRCh38]
Chr5:10261655 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.48C>T (p.Phe16=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003878575] Chr5:10250388 [GRCh38]
Chr5:10250500 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.167-13C>T single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003602012] Chr5:10254661 [GRCh38]
Chr5:10254773 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.1498+9C>T single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003496543] Chr5:10263323 [GRCh38]
Chr5:10263435 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.288G>A (p.Lys96=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003602518] Chr5:10254795 [GRCh38]
Chr5:10254907 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.334C>T (p.Leu112=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003494796] Chr5:10255957 [GRCh38]
Chr5:10256069 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.1449G>A (p.Lys483=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003496724] Chr5:10263265 [GRCh38]
Chr5:10263377 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.13G>A (p.Gly5Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003496991] Chr5:10250353 [GRCh38]
Chr5:10250465 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.433A>G (p.Ile145Val) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003496983]|not specified [RCV004604967] Chr5:10256056 [GRCh38]
Chr5:10256168 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.724-9C>T single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003497178] Chr5:10258377 [GRCh38]
Chr5:10258489 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.993+15G>A single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003497229] Chr5:10260926 [GRCh38]
Chr5:10261038 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.609C>T (p.Asp203=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003856832] Chr5:10258189 [GRCh38]
Chr5:10258301 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.1384C>T (p.Leu462Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003849448] Chr5:10263200 [GRCh38]
Chr5:10263312 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.942T>A (p.Leu314=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003837234] Chr5:10260860 [GRCh38]
Chr5:10260972 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.18C>T (p.Thr6=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003836267] Chr5:10250358 [GRCh38]
Chr5:10250470 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.1065T>C (p.Phe355=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003839657] Chr5:10261631 [GRCh38]
Chr5:10261743 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.1217T>C (p.Leu406Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003497058] Chr5:10262518 [GRCh38]
Chr5:10262630 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.167-13C>G single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003497111] Chr5:10254661 [GRCh38]
Chr5:10254773 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1317+3A>G single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003497270] Chr5:10262621 [GRCh38]
Chr5:10262733 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1318-8C>A single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003496981] Chr5:10263126 [GRCh38]
Chr5:10263238 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.544C>T (p.His182Tyr) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003497300] Chr5:10258124 [GRCh38]
Chr5:10258236 [GRCh37]
Chr5:5p15.2		 uncertain significance
GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1 copy number loss not specified [RCV003986560] Chr5:113576..26534253 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-19388145)x1 copy number loss not specified [RCV003986593] Chr5:113576..19388145 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:3272715-17317051)x1 copy number loss not specified [RCV003986598] Chr5:3272715..17317051 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-17511896)x1 copy number loss not specified [RCV003986589] Chr5:113576..17511896 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1 copy number loss not specified [RCV003986544] Chr5:113576..28300709 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-10835556)x1 copy number loss not specified [RCV003986599] Chr5:113576..10835556 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
GRCh37/hg19 5p15.32-13.3(chr5:5259461-29748394)x1 copy number loss not specified [RCV003986556] Chr5:5259461..29748394 [GRCh37]
Chr5:5p15.32-13.3		 pathogenic
NM_012073.5(CCT5):c.243G>T (p.Met81Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV003823650] Chr5:10254750 [GRCh38]
Chr5:10254862 [GRCh37]
Chr5:5p15.2		 uncertain significance
GRCh37/hg19 5p15.33-15.2(chr5:113577-13341742)x1 copy number loss not provided [RCV004442820] Chr5:113577..13341742 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113577-31773283)x3 copy number gain not provided [RCV004442822] Chr5:113577..31773283 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
NM_012073.5(CCT5):c.1040A>T (p.Glu347Val) single nucleotide variant not specified [RCV004433068] Chr5:10261606 [GRCh38]
Chr5:10261718 [GRCh37]
Chr5:5p15.2		 uncertain significance
NC_000005.9:g.(?_10250453)_(10264895_?)dup duplication Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV004578991] Chr5:10250453..10264895 [GRCh37]
Chr5:5p15.2		 uncertain significance
NC_000005.9:g.(?_10264748)_(10264895_?)dup duplication Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV004578992] Chr5:10264748..10264895 [GRCh37]
Chr5:5p15.2		 uncertain significance
CCT5, LEU224VAL (rs925661175) single nucleotide variant not provided [RCV004698783]   uncertain significance
NM_012073.5(CCT5):c.787A>C (p.Lys263Gln) single nucleotide variant not specified [RCV004606420] Chr5:10258449 [GRCh38]
Chr5:10258561 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1147G>A (p.Val383Ile) single nucleotide variant not specified [RCV004898717] Chr5:10261713 [GRCh38]
Chr5:10261825 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.427G>A (p.Val143Ile) single nucleotide variant not specified [RCV004898716] Chr5:10256050 [GRCh38]
Chr5:10256162 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.1402A>G (p.Met468Val) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV005065802] Chr5:10263218 [GRCh38]
Chr5:10263330 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.81T>C (p.Arg27=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV005170040] Chr5:10250421 [GRCh38]
Chr5:10250533 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.527A>G (p.Lys176Arg) single nucleotide variant not provided [RCV004997133] Chr5:10256150 [GRCh38]
Chr5:10256262 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1498+18C>T single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV005086257] Chr5:10263332 [GRCh38]
Chr5:10263444 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.1429G>C (p.Val477Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV005060851] Chr5:10263245 [GRCh38]
Chr5:10263357 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.737C>G (p.Ala246Gly) single nucleotide variant not specified [RCV004895150] Chr5:10258399 [GRCh38]
Chr5:10258511 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.994-19C>T single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV005191173] Chr5:10261541 [GRCh38]
Chr5:10261653 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.873A>C (p.Gln291His) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV005139711] Chr5:10258535 [GRCh38]
Chr5:10258647 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.576C>A (p.Ala192=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV005202456] Chr5:10258156 [GRCh38]
Chr5:10258268 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.874-9T>C single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV005192217] Chr5:10260783 [GRCh38]
Chr5:10260895 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.393C>G (p.Ile131Met) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV005078616] Chr5:10256016 [GRCh38]
Chr5:10256128 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1552T>C (p.Ser518Pro) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV005189134] Chr5:10264709 [GRCh38]
Chr5:10264821 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.994-11A>G single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV005138771] Chr5:10261549 [GRCh38]
Chr5:10261661 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.441C>G (p.His147Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV005191908] Chr5:10256064 [GRCh38]
Chr5:10256176 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.963G>A (p.Ala321=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV005193711] Chr5:10260881 [GRCh38]
Chr5:10260993 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.749T>G (p.Ile250Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV005162861] Chr5:10258411 [GRCh38]
Chr5:10258523 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.332-20G>C single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV005159748] Chr5:10255935 [GRCh38]
Chr5:10256047 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.1545A>G (p.Gln515=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV005111143] Chr5:10264702 [GRCh38]
Chr5:10264814 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.823A>G (p.Lys275Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV005139097] Chr5:10258485 [GRCh38]
Chr5:10258597 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.1562C>T (p.Thr521Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV005118522] Chr5:10264719 [GRCh38]
Chr5:10264831 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.994-4T>G single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV005082160] Chr5:10261556 [GRCh38]
Chr5:10261668 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.69C>T (p.Asp23=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV005140393] Chr5:10250409 [GRCh38]
Chr5:10250521 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.474C>T (p.Asp158=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV005193534] Chr5:10256097 [GRCh38]
Chr5:10256209 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.1317+10_1317+11delinsAC indel Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV005070556] Chr5:10262628..10262629 [GRCh38]
Chr5:10262740..10262741 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_012073.5(CCT5):c.873+12C>T single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV005127476] Chr5:10258547 [GRCh38]
Chr5:10258659 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.426T>A (p.Arg142=) single nucleotide variant Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV005154484] Chr5:10256049 [GRCh38]
Chr5:10256161 [GRCh37]
Chr5:5p15.2		 likely benign
NM_012073.5(CCT5):c.936_937del (p.Leu313fs) deletion Hereditary sensory and autonomic neuropathy with spastic paraplegia [RCV005130084] Chr5:10260854..10260855 [GRCh38]
Chr5:10260966..10260967 [GRCh37]
Chr5:5p15.2		 uncertain significance
miRNA Target Status (No longer updated)

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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407390986GWAS1039962_Hobsolete_red blood cell distribution width QTL GWAS1039962 (human)8e-10obsolete_red blood cell distribution width51026467610264677Human
596978615GWAS1098134_HRed cell distribution width QTL GWAS1098134 (human)8e-10Red cell distribution width51026467610264677Human
597121154GWAS1217228_HRed cell distribution width QTL GWAS1217228 (human)8e-10Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)51026467610264677Human

Markers in Region
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


Expression

RNA-SEQ Expression

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

Sequence

Nucleotide Sequences
RefSeq Transcripts 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
  CP068273 (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

Ensembl Acc Id: ENST00000280326   ⟹   ENSP00000280326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl510,250,280 - 10,266,389 (+)Ensembl
Ensembl Acc Id: ENST00000423695
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl510,250,319 - 10,262,201 (+)Ensembl
Ensembl Acc Id: ENST00000503026   ⟹   ENSP00000423318
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl510,249,929 - 10,265,078 (+)Ensembl
Ensembl Acc Id: ENST00000503454   ⟹   ENSP00000422744
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl510,250,360 - 10,258,535 (+)Ensembl
Ensembl Acc Id: ENST00000506600   ⟹   ENSP00000423052
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl510,250,539 - 10,265,011 (+)Ensembl
Ensembl Acc Id: ENST00000508451
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl510,250,309 - 10,255,030 (+)Ensembl
Ensembl Acc Id: ENST00000509846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl510,258,386 - 10,261,187 (+)Ensembl
Ensembl Acc Id: ENST00000510326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl510,250,319 - 10,254,584 (+)Ensembl
Ensembl Acc Id: ENST00000511700   ⟹   ENSP00000423087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl510,250,243 - 10,258,247 (+)Ensembl
Ensembl Acc Id: ENST00000511995
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl510,261,975 - 10,264,921 (+)Ensembl
Ensembl Acc Id: ENST00000512975   ⟹   ENSP00000425751
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl510,250,319 - 10,260,899 (+)Ensembl
Ensembl Acc Id: ENST00000514674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl510,257,886 - 10,258,535 (+)Ensembl
Ensembl Acc Id: ENST00000515390   ⟹   ENSP00000426923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl510,250,216 - 10,264,925 (+)Ensembl
Ensembl Acc Id: ENST00000515676   ⟹   ENSP00000427297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl510,250,537 - 10,264,902 (+)Ensembl
Ensembl Acc Id: ENST00000625723   ⟹   ENSP00000487128
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 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
T2T-CHM13v2.0510,189,222 - 10,205,724 (+)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
T2T-CHM13v2.0510,189,581 - 10,205,701 (+)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
T2T-CHM13v2.0510,189,838 - 10,205,701 (+)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
T2T-CHM13v2.0510,189,838 - 10,205,701 (+)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
T2T-CHM13v2.0510,189,581 - 10,205,701 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001293082 (Get FASTA)   NCBI Sequence Viewer  
  NP_001293083 (Get FASTA)   NCBI Sequence Viewer  
  NP_001293084 (Get FASTA)   NCBI Sequence Viewer  
  NP_001293085 (Get FASTA)   NCBI Sequence Viewer  
  NP_036205 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAG23814 (Get FASTA)   NCBI Sequence Viewer  
  AAH02971 (Get FASTA)   NCBI Sequence Viewer  
  AAH06543 (Get FASTA)   NCBI Sequence Viewer  
  AAH09454 (Get FASTA)   NCBI Sequence Viewer  
  AAH35499 (Get FASTA)   NCBI Sequence Viewer  
  ACI45995 (Get FASTA)   NCBI Sequence Viewer  
  BAA07894 (Get FASTA)   NCBI Sequence Viewer  
  BAF82042 (Get FASTA)   NCBI Sequence Viewer  
  BAF83082 (Get FASTA)   NCBI Sequence Viewer  
  BAG56857 (Get FASTA)   NCBI Sequence Viewer  
  BAG56941 (Get FASTA)   NCBI Sequence Viewer  
  BAG63220 (Get FASTA)   NCBI Sequence Viewer  
  BAG63393 (Get FASTA)   NCBI Sequence Viewer  
  BAG63690 (Get FASTA)   NCBI Sequence Viewer  
  BAG63700 (Get FASTA)   NCBI Sequence Viewer  
  BAG64197 (Get FASTA)   NCBI Sequence Viewer  
  BAG64251 (Get FASTA)   NCBI Sequence Viewer  
  BAH14747 (Get FASTA)   NCBI Sequence Viewer  
  EAX08072 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000280326
  ENSP00000280326.4
  ENSP00000422744.1
  ENSP00000423052
  ENSP00000423052.1
  ENSP00000423087.1
  ENSP00000423318
  ENSP00000423318.1
  ENSP00000425751.1
  ENSP00000426923
  ENSP00000426923.1
  ENSP00000427297
  ENSP00000427297.1
  ENSP00000487128.1
GenBank Protein P48643 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_036205   ⟸   NM_012073
- Peptide Label: isoform a
- UniProtKB: A8K2X8 (UniProtKB/Swiss-Prot),   A8JZY8 (UniProtKB/Swiss-Prot),   B4DYD8 (UniProtKB/Swiss-Prot),   P48643 (UniProtKB/Swiss-Prot),   V9HW37 (UniProtKB/TrEMBL),   Q9BU08 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001293083   ⟸   NM_001306154
- Peptide Label: isoform c
- UniProtKB: B4DYC8 (UniProtKB/TrEMBL),   E7ENZ3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001293082   ⟸   NM_001306153
- Peptide Label: isoform b
- UniProtKB: B4DX08 (UniProtKB/TrEMBL),   E9PCA1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001293085   ⟸   NM_001306156
- Peptide Label: isoform e
- UniProtKB: B4DDU6 (UniProtKB/TrEMBL),   B7ZAR1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001293084   ⟸   NM_001306155
- Peptide Label: isoform d
- UniProtKB: B4DYC8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000423318   ⟸   ENST00000503026
Ensembl Acc Id: ENSP00000422744   ⟸   ENST00000503454
Ensembl Acc Id: ENSP00000280326   ⟸   ENST00000280326
Ensembl Acc Id: ENSP00000423052   ⟸   ENST00000506600
Ensembl Acc Id: ENSP00000487128   ⟸   ENST00000625723
Ensembl Acc Id: ENSP00000423087   ⟸   ENST00000511700
Ensembl Acc Id: ENSP00000425751   ⟸   ENST00000512975
Ensembl Acc Id: ENSP00000426923   ⟸   ENST00000515390
Ensembl Acc Id: ENSP00000427297   ⟸   ENST00000515676

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P48643-F1-model_v2 AlphaFold P48643 1-541 view protein structure

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

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 Transcript ENST00000280326 ENTREZGENE
  ENST00000280326.9 UniProtKB/Swiss-Prot
  ENST00000503026 ENTREZGENE
  ENST00000503026.5 UniProtKB/TrEMBL
  ENST00000503454.5 UniProtKB/TrEMBL
  ENST00000506600 ENTREZGENE
  ENST00000506600.1 UniProtKB/Swiss-Prot
  ENST00000511700.1 UniProtKB/TrEMBL
  ENST00000512975.5 UniProtKB/TrEMBL
  ENST00000515390 ENTREZGENE
  ENST00000515390.5 UniProtKB/TrEMBL
  ENST00000515676 ENTREZGENE
  ENST00000515676.5 UniProtKB/TrEMBL
  ENST00000625723.1 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
  TCP-1_chaperonin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  thermosome_alpha UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:22948 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 22948 ENTREZGENE
OMIM 610150 OMIM
PANTHER PTHR11353 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
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
UniProt A8JZY8 ENTREZGENE
  A8K2X8 ENTREZGENE
  B4DDU6 ENTREZGENE, UniProtKB/TrEMBL
  B4DX08 ENTREZGENE, UniProtKB/TrEMBL
  B4DYC8 ENTREZGENE, UniProtKB/TrEMBL
  B4DYD8 ENTREZGENE
  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
  Q9BU08 ENTREZGENE, UniProtKB/TrEMBL
  TCPE_HUMAN 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