NDRG1 (N-myc downstream regulated 1) - Rat Genome Database

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Gene: NDRG1 (N-myc downstream regulated 1) Homo sapiens
Analyze
Symbol: NDRG1
Name: N-myc downstream regulated 1
RGD ID: 1316419
HGNC Page HGNC
Description: Exhibits cadherin binding activity; small GTPase binding activity; and tubulin binding activity. Involved in DNA damage response, signal transduction by p53 class mediator and cellular response to hypoxia. Localizes to several cellular components, including adherens junction; microtubule cytoskeleton; and recycling endosome membrane. Implicated in Charcot-Marie-Tooth disease type 4D.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CAP43; CMT4D; differentiation-related gene 1 protein; DRG-1; DRG1; GC4; HMSNL; N-myc downstream-regulated gene 1 protein; NDR1; nickel-specific induction protein Cap43; NMSL; protein regulated by oxygen-1; PROXY1; reducing agents and tunicamycin-responsive protein; RIT42; RTP; TARG1; TDD5; tunicamycin-responsive protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8133,237,171 - 133,302,022 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl8133,237,175 - 133,302,022 (-)EnsemblGRCh38hg38GRCh38
GRCh388133,237,175 - 133,297,252 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378134,249,418 - 134,309,495 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368134,318,596 - 134,378,680 (-)NCBINCBI36hg18NCBI36
Build 348134,318,595 - 134,378,680NCBI
Celera8130,427,338 - 130,487,468 (-)NCBI
Cytogenetic Map8q24.22NCBI
HuRef8129,569,158 - 129,629,277 (-)NCBIHuRef
CHM1_18134,290,434 - 134,350,564 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dimethylhydrazine  (ISO)
1-benzylpiperazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (EXP)
3,4-dichloroaniline  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acetazolamide  (ISO)
aconitine  (ISO)
acrolein  (EXP)
actinomycin D  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP,ISO)
allyl isothiocyanate  (EXP)
alpha-pinene  (EXP)
amphetamine  (ISO)
antimycin A  (ISO)
arsenous acid  (EXP)
atrazine  (EXP)
azathioprine  (EXP)
bafilomycin A1  (EXP)
beauvericin  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
benzoates  (EXP)
benzyl isothiocyanate  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bleomycin A5  (EXP)
bortezomib  (EXP)
butan-1-ol  (EXP)
cadmium dichloride  (EXP,ISO)
cadmium sulfate  (EXP,ISO)
cannabidiol  (ISO)
carbon monoxide  (EXP)
carbon nanotube  (ISO)
chloropicrin  (EXP)
chloroquine  (EXP)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
cobalt atom  (EXP)
cobalt dichloride  (EXP,ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
corticosterone  (ISO)
cycloheximide  (EXP)
cyclosporin A  (EXP)
cyproconazole  (ISO)
cytarabine  (EXP)
desferrioxamine B  (EXP)
dexamethasone  (EXP,ISO)
Diallyl sulfide  (EXP)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP)
dibenz[a,h]anthracene  (ISO)
dibutyl phthalate  (ISO)
dioxygen  (EXP,ISO)
diuron  (EXP,ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
enniatin  (EXP)
enzyme inhibitor  (EXP)
epoxiconazole  (ISO)
ethanol  (EXP,ISO)
ferric oxide  (ISO)
finasteride  (ISO)
fluoranthene  (ISO)
flutamide  (ISO)
folic acid  (EXP,ISO)
furan  (ISO)
gentamycin  (ISO)
Heptachlor epoxide  (ISO)
hydrogen peroxide  (EXP)
indometacin  (EXP)
irinotecan  (EXP)
iron atom  (EXP)
iron(0)  (EXP)
isobutanol  (EXP)
isoprenaline  (ISO)
ivermectin  (ISO)
L-ascorbic acid  (EXP)
lead diacetate  (ISO)
manganese atom  (EXP)
manganese(0)  (EXP)
menadione  (EXP)
methylseleninic acid  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
Monobutylphthalate  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nickel atom  (EXP,ISO)
nickel dichloride  (EXP,ISO)
nickel subsulfide  (EXP,ISO)
nickel sulfate  (EXP,ISO)
nitric oxide  (EXP)
ozone  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctanoic acid  (EXP)
phenethyl isothiocyanate  (EXP)
phenobarbital  (EXP,ISO)
phenylmercury acetate  (EXP)
pioglitazone  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
potassium dichromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
propiconazole  (ISO)
quercetin  (EXP)
quinolin-8-ol  (EXP)
resorcinol  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
S-adenosyl-L-methioninate  (ISO)
S-adenosyl-L-methionine  (ISO)
SB 431542  (EXP)
serpentine asbestos  (EXP)
silicon dioxide  (EXP,ISO)
simvastatin  (ISO)
sodium arsenite  (EXP)
succimer  (ISO)
sulforaphane  (EXP)
sulindac  (EXP,ISO)
sunitinib  (EXP)
tacrolimus hydrate  (ISO)
tamoxifen  (ISO)
tert-butyl hydroperoxide  (EXP)
Tesaglitazar  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thimerosal  (EXP)
thioacetamide  (ISO)
Tiron  (EXP)
triadimefon  (ISO)
tributylstannane  (ISO)
triphenyl phosphate  (ISO)
troglitazone  (EXP,ISO)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vanadium atom  (EXP)
vanadium(0)  (EXP)
vandetanib  (EXP)
vinclozolin  (ISO)
vorinostat  (EXP)
wortmannin  (ISO)
zinc atom  (EXP)
zinc dichloride  (EXP)
zinc(0)  (EXP)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:8125298   PMID:8841199   PMID:8939898   PMID:9251681   PMID:9605764   PMID:9766676   PMID:10395947   PMID:10676663   PMID:10831399   PMID:11006124   PMID:11237058   PMID:11352569  
PMID:11835375   PMID:11936845   PMID:12046693   PMID:12429530   PMID:12432451   PMID:12477932   PMID:12483528   PMID:12493777   PMID:12702552   PMID:12767066   PMID:12872253   PMID:12962147  
PMID:14702039   PMID:14966915   PMID:15247272   PMID:15251988   PMID:15302935   PMID:15377670   PMID:15461589   PMID:15489334   PMID:15582665   PMID:15607035   PMID:15867226   PMID:15922294  
PMID:16169070   PMID:16288478   PMID:16314423   PMID:16344560   PMID:16421571   PMID:16622835   PMID:16707596   PMID:16778198   PMID:16832411   PMID:16920733   PMID:16964243   PMID:17069588  
PMID:17081983   PMID:17220478   PMID:17316623   PMID:17488873   PMID:17569115   PMID:17601350   PMID:17786215   PMID:17909017   PMID:18029348   PMID:18377423   PMID:18455888   PMID:18582504  
PMID:18602353   PMID:18653908   PMID:18977241   PMID:19020710   PMID:19046768   PMID:19056867   PMID:19082468   PMID:19259744   PMID:19337694   PMID:19402821   PMID:19414333   PMID:19491262  
PMID:19622774   PMID:19649210   PMID:19682504   PMID:19760510   PMID:19775754   PMID:19800102   PMID:20173668   PMID:20301532   PMID:20301641   PMID:20348948   PMID:20369286   PMID:20379614  
PMID:20388062   PMID:20403915   PMID:20416281   PMID:20573444   PMID:20664979   PMID:20706999   PMID:20810912   PMID:20853080   PMID:21052891   PMID:21181370   PMID:21184144   PMID:21221878  
PMID:21236457   PMID:21454613   PMID:21463610   PMID:21575456   PMID:21706236   PMID:21708134   PMID:21735144   PMID:21763068   PMID:21775055   PMID:21784644   PMID:21873635   PMID:21909787  
PMID:21912630   PMID:21976667   PMID:22187533   PMID:22453918   PMID:22462691   PMID:22481237   PMID:22678098   PMID:22722710   PMID:22844455   PMID:22863883   PMID:22939629   PMID:22972152  
PMID:22978647   PMID:23068607   PMID:23099645   PMID:23188716   PMID:23192272   PMID:23296375   PMID:23376485   PMID:23377825   PMID:23437357   PMID:23526365   PMID:23634903   PMID:23671130  
PMID:23726511   PMID:23813961   PMID:23846687   PMID:23874544   PMID:23874837   PMID:23899187   PMID:23973486   PMID:23996628   PMID:23999030   PMID:24136616   PMID:24302615   PMID:24367102  
PMID:24386364   PMID:24457600   PMID:24498060   PMID:24532803   PMID:24626771   PMID:24747552   PMID:24829151   PMID:24970329   PMID:24985974   PMID:25081069   PMID:25110805   PMID:25152373  
PMID:25162997   PMID:25218595   PMID:25335733   PMID:25416956   PMID:25468996   PMID:25520514   PMID:25712528   PMID:25777142   PMID:25860930   PMID:26028238   PMID:26186194   PMID:26202882  
PMID:26297987   PMID:26324937   PMID:26344197   PMID:26349604   PMID:26359353   PMID:26418878   PMID:26534963   PMID:26638075   PMID:26653549   PMID:26852918   PMID:26895766   PMID:27154576  
PMID:27338835   PMID:27414086   PMID:27655496   PMID:27684187   PMID:27698340   PMID:27716814   PMID:27793840   PMID:27894074   PMID:28003645   PMID:28075464   PMID:28191699   PMID:28219902  
PMID:28292472   PMID:28346422   PMID:28350132   PMID:28371345   PMID:28456659   PMID:28498432   PMID:28514442   PMID:28537875   PMID:28545025   PMID:28611215   PMID:28615452   PMID:28718761  
PMID:28776325   PMID:29117863   PMID:29118118   PMID:29248714   PMID:29431240   PMID:29467385   PMID:29490077   PMID:29524631   PMID:29568061   PMID:29569762   PMID:29679718   PMID:29712969  
PMID:29730307   PMID:29738439   PMID:29768183   PMID:29801473   PMID:29898756   PMID:30194290   PMID:30313035   PMID:30337371   PMID:30407715   PMID:30497328   PMID:30538287   PMID:30561520  
PMID:30585266   PMID:30659120   PMID:30679310   PMID:30763642   PMID:30811506   PMID:30863499   PMID:30914736   PMID:30922920   PMID:30945288   PMID:30981813   PMID:31242951   PMID:31694959  
PMID:31723002   PMID:31732153   PMID:31831018   PMID:31980649   PMID:32106831   PMID:32112078   PMID:32165297   PMID:32335136   PMID:32537867   PMID:32572027   PMID:32757096   PMID:32814053  


Genomics

Comparative Map Data
NDRG1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8133,237,171 - 133,302,022 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl8133,237,175 - 133,302,022 (-)EnsemblGRCh38hg38GRCh38
GRCh388133,237,175 - 133,297,252 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378134,249,418 - 134,309,495 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368134,318,596 - 134,378,680 (-)NCBINCBI36hg18NCBI36
Build 348134,318,595 - 134,378,680NCBI
Celera8130,427,338 - 130,487,468 (-)NCBI
Cytogenetic Map8q24.22NCBI
HuRef8129,569,158 - 129,629,277 (-)NCBIHuRef
CHM1_18134,290,434 - 134,350,564 (-)NCBICHM1_1
Ndrg1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391566,801,167 - 66,841,490 (-)NCBIGRCm39mm39
GRCm39 Ensembl1566,801,167 - 66,841,489 (-)Ensembl
GRCm381566,929,318 - 66,969,641 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1566,929,318 - 66,969,640 (-)EnsemblGRCm38mm10GRCm38
MGSCv371566,760,880 - 66,801,203 (-)NCBIGRCm37mm9NCBIm37
MGSCv361566,758,991 - 66,799,308 (-)NCBImm8
Celera1568,461,993 - 68,502,305 (-)NCBICelera
Cytogenetic Map15D2NCBI
Ndrg1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2798,684,487 - 98,725,869 (-)NCBI
Rnor_6.0 Ensembl7107,734,323 - 107,775,714 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07107,734,326 - 107,775,701 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07107,683,921 - 107,725,300 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47104,302,038 - 104,344,842 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17104,336,268 - 104,379,072 (-)NCBI
Celera795,235,424 - 95,272,338 (-)NCBICelera
Cytogenetic Map7q34NCBI
Ndrg1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554617,786,850 - 7,836,922 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554617,787,068 - 7,836,380 (-)NCBIChiLan1.0ChiLan1.0
NDRG1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18132,866,245 - 132,926,514 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8132,866,245 - 132,926,514 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08129,891,918 - 129,952,489 (-)NCBIMhudiblu_PPA_v0panPan3
NDRG1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11329,689,294 - 29,745,964 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1329,650,444 - 29,746,382 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1329,668,427 - 29,710,107 (-)NCBI
ROS_Cfam_1.01330,048,859 - 30,105,421 (-)NCBI
UMICH_Zoey_3.11329,777,136 - 29,818,739 (-)NCBI
UNSW_CanFamBas_1.01329,876,514 - 29,918,203 (-)NCBI
UU_Cfam_GSD_1.01330,226,181 - 30,267,635 (-)NCBI
Ndrg1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053038,625,163 - 8,676,464 (+)NCBI
SpeTri2.0NW_00493647016,051,291 - 16,102,563 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NDRG1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl48,014,446 - 8,069,333 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.148,014,445 - 8,069,335 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.247,894,536 - 7,930,072 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NDRG1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18127,668,012 - 127,727,918 (-)NCBI
ChlSab1.1 Ensembl8127,667,981 - 127,719,011 (-)Ensembl
Ndrg1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473522,734,365 - 22,782,247 (+)NCBI

Position Markers
RH122426  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,282,654 - 134,282,990UniSTSGRCh37
Build 368134,351,836 - 134,352,172RGDNCBI36
Celera8130,460,577 - 130,460,913RGD
Cytogenetic Map8q24.3UniSTS
HuRef8129,602,392 - 129,602,728UniSTS
TNG Radiation Hybrid Map865286.0UniSTS
RH12615  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,249,472 - 134,249,646UniSTSGRCh37
Build 368134,318,654 - 134,318,828RGDNCBI36
Celera8130,427,396 - 130,427,570RGD
Cytogenetic Map8q24.3UniSTS
HuRef8129,569,216 - 129,569,390UniSTS
GeneMap99-GB4 RH Map8515.47UniSTS
NCBI RH Map81520.9UniSTS
SHGC-172455  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,263,902 - 134,264,245UniSTSGRCh37
Build 368134,333,084 - 134,333,427RGDNCBI36
Celera8130,441,825 - 130,442,168RGD
Cytogenetic Map8q24.3UniSTS
HuRef8129,583,642 - 129,583,985UniSTS
TNG Radiation Hybrid Map865276.0UniSTS
D8S1397E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,249,538 - 134,249,732UniSTSGRCh37
Build 368134,318,720 - 134,318,914RGDNCBI36
Celera8130,427,462 - 130,427,656RGD
Cytogenetic Map8q24.3UniSTS
HuRef8129,569,282 - 129,569,476UniSTS
GeneMap99-GB4 RH Map8520.51UniSTS
NCBI RH Map81520.9UniSTS
RH12558  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,250,945 - 134,251,087UniSTSGRCh37
Build 368134,320,127 - 134,320,269RGDNCBI36
Celera8130,428,869 - 130,429,011RGD
Cytogenetic Map8q24.3UniSTS
HuRef8129,570,689 - 129,570,831UniSTS
GeneMap99-GB4 RH Map8499.02UniSTS
NCBI RH Map81536.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:11050
Count of miRNA genes:1205
Interacting mature miRNAs:1550
Transcripts:ENST00000323851, ENST00000354944, ENST00000414097, ENST00000517331, ENST00000517599, ENST00000517745, ENST00000518010, ENST00000518066, ENST00000518094, ENST00000518176, ENST00000518480, ENST00000519228, ENST00000519278, ENST00000519580, ENST00000520230, ENST00000520943, ENST00000521026, ENST00000521414, ENST00000521438, ENST00000521544, ENST00000521664, ENST00000522377, ENST00000522476, ENST00000522665, ENST00000522738, ENST00000522890, ENST00000523642, ENST00000523892, ENST00000523931, ENST00000537882
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 2 1 1 252 181 23 28 6 1 5 211
Medium 2409 2971 1664 566 1547 408 3816 2078 3521 387 1401 1562 173 1 1199 2491 5 2
Low 27 19 61 57 354 57 289 117 31 8 28 41 1 86 1
Below cutoff 1 1 34 2 1 1 1 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001135242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001258432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001258433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF004162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF039944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF147402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF192304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF230380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU141826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY277597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC343351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC353531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X92845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000323851   ⟹   ENSP00000319977
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,237,175 - 133,297,252 (-)Ensembl
RefSeq Acc Id: ENST00000414097   ⟹   ENSP00000404854
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,237,176 - 133,297,586 (-)Ensembl
RefSeq Acc Id: ENST00000517331
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,244,380 - 133,259,446 (-)Ensembl
RefSeq Acc Id: ENST00000517599   ⟹   ENSP00000429172
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,237,176 - 133,297,252 (-)Ensembl
RefSeq Acc Id: ENST00000517745
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,258,996 - 133,264,581 (-)Ensembl
RefSeq Acc Id: ENST00000518010
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,256,809 - 133,297,252 (-)Ensembl
RefSeq Acc Id: ENST00000518066   ⟹   ENSP00000431057
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,238,767 - 133,297,252 (-)Ensembl
RefSeq Acc Id: ENST00000518094
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,259,095 - 133,262,257 (-)Ensembl
RefSeq Acc Id: ENST00000518176   ⟹   ENSP00000429007
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,238,538 - 133,297,237 (-)Ensembl
RefSeq Acc Id: ENST00000518480   ⟹   ENSP00000428802
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,256,816 - 133,297,256 (-)Ensembl
RefSeq Acc Id: ENST00000519228   ⟹   ENSP00000429994
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,256,819 - 133,297,958 (-)Ensembl
RefSeq Acc Id: ENST00000519278
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,237,176 - 133,256,228 (-)Ensembl
RefSeq Acc Id: ENST00000519580   ⟹   ENSP00000429272
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,256,840 - 133,296,555 (-)Ensembl
RefSeq Acc Id: ENST00000520230   ⟹   ENSP00000428345
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,256,785 - 133,302,022 (-)Ensembl
RefSeq Acc Id: ENST00000520943   ⟹   ENSP00000429840
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,258,379 - 133,298,458 (-)Ensembl
RefSeq Acc Id: ENST00000521026
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,237,176 - 133,244,503 (-)Ensembl
RefSeq Acc Id: ENST00000521414
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,237,176 - 133,249,488 (-)Ensembl
RefSeq Acc Id: ENST00000521438
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,237,176 - 133,241,527 (-)Ensembl
RefSeq Acc Id: ENST00000521544   ⟹   ENSP00000429524
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,258,416 - 133,297,252 (-)Ensembl
RefSeq Acc Id: ENST00000521664
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,246,627 - 133,254,882 (-)Ensembl
RefSeq Acc Id: ENST00000522377   ⟹   ENSP00000429380
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,246,623 - 133,297,239 (-)Ensembl
RefSeq Acc Id: ENST00000522476   ⟹   ENSP00000427894
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,238,698 - 133,297,252 (-)Ensembl
RefSeq Acc Id: ENST00000522665
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,241,878 - 133,250,460 (-)Ensembl
RefSeq Acc Id: ENST00000522738   ⟹   ENSP00000428991
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,259,218 - 133,296,536 (-)Ensembl
RefSeq Acc Id: ENST00000522890   ⟹   ENSP00000428384
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,256,840 - 133,297,092 (-)Ensembl
RefSeq Acc Id: ENST00000523642
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,241,874 - 133,244,660 (-)Ensembl
RefSeq Acc Id: ENST00000523892   ⟹   ENSP00000430171
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,262,047 - 133,297,256 (-)Ensembl
RefSeq Acc Id: ENST00000523931
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,262,060 - 133,264,992 (-)Ensembl
RefSeq Acc Id: ENST00000537882   ⟹   ENSP00000437443
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,237,171 - 133,297,304 (-)Ensembl
RefSeq Acc Id: ENST00000674521   ⟹   ENSP00000501584
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,246,616 - 133,247,926 (-)Ensembl
RefSeq Acc Id: ENST00000674536
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,264,547 - 133,284,329 (-)Ensembl
RefSeq Acc Id: ENST00000674605   ⟹   ENSP00000501650
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,284,249 - 133,297,252 (-)Ensembl
RefSeq Acc Id: ENST00000674705
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,264,547 - 133,265,803 (-)Ensembl
RefSeq Acc Id: ENST00000674804   ⟹   ENSP00000502656
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,284,249 - 133,298,071 (-)Ensembl
RefSeq Acc Id: ENST00000674839   ⟹   ENSP00000502800
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,284,249 - 133,295,200 (-)Ensembl
RefSeq Acc Id: ENST00000674902   ⟹   ENSP00000501764
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,264,547 - 133,280,267 (-)Ensembl
RefSeq Acc Id: ENST00000674925   ⟹   ENSP00000501624
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,254,539 - 133,256,863 (-)Ensembl
RefSeq Acc Id: ENST00000675010
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,262,046 - 133,267,350 (-)Ensembl
RefSeq Acc Id: ENST00000675036
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,246,616 - 133,247,926 (-)Ensembl
RefSeq Acc Id: ENST00000675056
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,248,715 - 133,249,407 (-)Ensembl
RefSeq Acc Id: ENST00000675068   ⟹   ENSP00000502226
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,246,616 - 133,248,771 (-)Ensembl
RefSeq Acc Id: ENST00000675172   ⟹   ENSP00000502297
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,248,715 - 133,254,595 (-)Ensembl
RefSeq Acc Id: ENST00000675273
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,248,715 - 133,254,595 (-)Ensembl
RefSeq Acc Id: ENST00000675357   ⟹   ENSP00000502209
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,264,547 - 133,284,329 (-)Ensembl
RefSeq Acc Id: ENST00000675414
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,244,161 - 133,244,390 (-)Ensembl
RefSeq Acc Id: ENST00000675429
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,259,168 - 133,262,167 (-)Ensembl
RefSeq Acc Id: ENST00000675437
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,259,773 - 133,262,167 (-)Ensembl
RefSeq Acc Id: ENST00000675531
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,262,047 - 133,264,652 (-)Ensembl
RefSeq Acc Id: ENST00000675568   ⟹   ENSP00000501738
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,244,355 - 133,246,663 (-)Ensembl
RefSeq Acc Id: ENST00000675600   ⟹   ENSP00000501905
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,264,547 - 133,280,267 (-)Ensembl
RefSeq Acc Id: ENST00000675860
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,246,616 - 133,250,902 (-)Ensembl
RefSeq Acc Id: ENST00000675983   ⟹   ENSP00000501631
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,284,249 - 133,297,092 (-)Ensembl
RefSeq Acc Id: ENST00000676005   ⟹   ENSP00000501604
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,259,195 - 133,288,442 (-)Ensembl
RefSeq Acc Id: ENST00000676022
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,259,168 - 133,259,623 (-)Ensembl
RefSeq Acc Id: ENST00000676064   ⟹   ENSP00000501657
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,284,249 - 133,288,431 (-)Ensembl
RefSeq Acc Id: ENST00000676124
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,254,539 - 133,256,207 (-)Ensembl
RefSeq Acc Id: ENST00000676142
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,249,476 - 133,250,543 (-)Ensembl
RefSeq Acc Id: ENST00000676222   ⟹   ENSP00000501949
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,254,539 - 133,258,426 (-)Ensembl
RefSeq Acc Id: ENST00000676341
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,246,616 - 133,247,926 (-)Ensembl
RefSeq Acc Id: ENST00000676375   ⟹   ENSP00000502695
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,262,068 - 133,296,212 (-)Ensembl
RefSeq Acc Id: ENST00000676444
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,248,724 - 133,267,430 (-)Ensembl
RefSeq Acc Id: NM_001135242   ⟹   NP_001128714
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388133,237,175 - 133,297,252 (-)NCBI
GRCh378134,249,414 - 134,309,835 (-)NCBI
HuRef8129,569,158 - 129,629,277 (-)ENTREZGENE
CHM1_18134,290,434 - 134,350,564 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001258432   ⟹   NP_001245361
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388133,237,175 - 133,297,252 (-)NCBI
GRCh378134,249,414 - 134,309,835 (-)NCBI
HuRef8129,569,158 - 129,629,277 (-)NCBI
CHM1_18134,290,434 - 134,350,564 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001258433   ⟹   NP_001245362
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388133,237,175 - 133,297,252 (-)NCBI
GRCh378134,249,414 - 134,309,835 (-)NCBI
HuRef8129,569,158 - 129,629,277 (-)NCBI
CHM1_18134,290,434 - 134,350,564 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374844   ⟹   NP_001361773
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388133,237,175 - 133,297,252 (-)NCBI
RefSeq Acc Id: NM_001374845   ⟹   NP_001361774
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388133,237,175 - 133,297,140 (-)NCBI
RefSeq Acc Id: NM_001374846   ⟹   NP_001361775
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388133,237,175 - 133,296,690 (-)NCBI
RefSeq Acc Id: NM_001374847   ⟹   NP_001361776
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388133,237,175 - 133,297,252 (-)NCBI
RefSeq Acc Id: NM_006096   ⟹   NP_006087
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388133,237,175 - 133,297,252 (-)NCBI
GRCh378134,249,414 - 134,309,835 (-)NCBI
Build 368134,318,596 - 134,378,680 (-)NCBI Archive
HuRef8129,569,158 - 129,629,277 (-)ENTREZGENE
CHM1_18134,290,434 - 134,350,564 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516792   ⟹   XP_011515094
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388133,237,175 - 133,256,719 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001128714 (Get FASTA)   NCBI Sequence Viewer  
  NP_001245361 (Get FASTA)   NCBI Sequence Viewer  
  NP_001245362 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361773 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361774 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361775 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361776 (Get FASTA)   NCBI Sequence Viewer  
  NP_006087 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515094 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC13419 (Get FASTA)   NCBI Sequence Viewer  
  AAF71305 (Get FASTA)   NCBI Sequence Viewer  
  AAH03175 (Get FASTA)   NCBI Sequence Viewer  
  AAQ18036 (Get FASTA)   NCBI Sequence Viewer  
  BAA13505 (Get FASTA)   NCBI Sequence Viewer  
  BAC04597 (Get FASTA)   NCBI Sequence Viewer  
  BAD97262 (Get FASTA)   NCBI Sequence Viewer  
  BAG52292 (Get FASTA)   NCBI Sequence Viewer  
  BAG53324 (Get FASTA)   NCBI Sequence Viewer  
  BAG54074 (Get FASTA)   NCBI Sequence Viewer  
  BAG54400 (Get FASTA)   NCBI Sequence Viewer  
  BAH12432 (Get FASTA)   NCBI Sequence Viewer  
  BAH12556 (Get FASTA)   NCBI Sequence Viewer  
  BAH12741 (Get FASTA)   NCBI Sequence Viewer  
  BAH13083 (Get FASTA)   NCBI Sequence Viewer  
  CAA63430 (Get FASTA)   NCBI Sequence Viewer  
  CAG33123 (Get FASTA)   NCBI Sequence Viewer  
  EAW92164 (Get FASTA)   NCBI Sequence Viewer  
  EAW92165 (Get FASTA)   NCBI Sequence Viewer  
  EAW92166 (Get FASTA)   NCBI Sequence Viewer  
  Q92597 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_006087   ⟸   NM_006096
- Peptide Label: isoform 1
- UniProtKB: Q92597 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001128714   ⟸   NM_001135242
- Peptide Label: isoform 1
- UniProtKB: Q92597 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001245361   ⟸   NM_001258432
- Peptide Label: isoform 2
- UniProtKB: Q92597 (UniProtKB/Swiss-Prot),   Q8N959 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001245362   ⟸   NM_001258433
- Peptide Label: isoform 3
- UniProtKB: Q92597 (UniProtKB/Swiss-Prot),   Q8N959 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515094   ⟸   XM_011516792
- Peptide Label: isoform X2
- UniProtKB: B3KWB2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001361776   ⟸   NM_001374847
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001361773   ⟸   NM_001374844
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001361774   ⟸   NM_001374845
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001361775   ⟸   NM_001374846
- Peptide Label: isoform 1
RefSeq Acc Id: ENSP00000429172   ⟸   ENST00000517599
RefSeq Acc Id: ENSP00000429007   ⟸   ENST00000518176
RefSeq Acc Id: ENSP00000431057   ⟸   ENST00000518066
RefSeq Acc Id: ENSP00000428802   ⟸   ENST00000518480
RefSeq Acc Id: ENSP00000429994   ⟸   ENST00000519228
RefSeq Acc Id: ENSP00000429272   ⟸   ENST00000519580
RefSeq Acc Id: ENSP00000404854   ⟸   ENST00000414097
RefSeq Acc Id: ENSP00000319977   ⟸   ENST00000323851
RefSeq Acc Id: ENSP00000428345   ⟸   ENST00000520230
RefSeq Acc Id: ENSP00000429840   ⟸   ENST00000520943
RefSeq Acc Id: ENSP00000429524   ⟸   ENST00000521544
RefSeq Acc Id: ENSP00000427894   ⟸   ENST00000522476
RefSeq Acc Id: ENSP00000429380   ⟸   ENST00000522377
RefSeq Acc Id: ENSP00000428384   ⟸   ENST00000522890
RefSeq Acc Id: ENSP00000428991   ⟸   ENST00000522738
RefSeq Acc Id: ENSP00000437443   ⟸   ENST00000537882
RefSeq Acc Id: ENSP00000430171   ⟸   ENST00000523892
RefSeq Acc Id: ENSP00000501584   ⟸   ENST00000674521
RefSeq Acc Id: ENSP00000501764   ⟸   ENST00000674902
RefSeq Acc Id: ENSP00000501624   ⟸   ENST00000674925
RefSeq Acc Id: ENSP00000502656   ⟸   ENST00000674804
RefSeq Acc Id: ENSP00000502800   ⟸   ENST00000674839
RefSeq Acc Id: ENSP00000501650   ⟸   ENST00000674605
RefSeq Acc Id: ENSP00000501905   ⟸   ENST00000675600
RefSeq Acc Id: ENSP00000501738   ⟸   ENST00000675568
RefSeq Acc Id: ENSP00000501631   ⟸   ENST00000675983
RefSeq Acc Id: ENSP00000502209   ⟸   ENST00000675357
RefSeq Acc Id: ENSP00000502297   ⟸   ENST00000675172
RefSeq Acc Id: ENSP00000502226   ⟸   ENST00000675068
RefSeq Acc Id: ENSP00000501949   ⟸   ENST00000676222
RefSeq Acc Id: ENSP00000501657   ⟸   ENST00000676064
RefSeq Acc Id: ENSP00000501604   ⟸   ENST00000676005
RefSeq Acc Id: ENSP00000502695   ⟸   ENST00000676375

Promoters
RGD ID:7214225
Promoter ID:EPDNEW_H12856
Type:initiation region
Name:NDRG1_1
Description:N-myc downstream regulated 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388133,297,252 - 133,297,312EPDNEW
RGD ID:6806568
Promoter ID:HG_KWN:62147
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:UC003YUE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368134,325,861 - 134,326,512 (-)MPROMDB
RGD ID:6806892
Promoter ID:HG_KWN:62148
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:UC003YUF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368134,336,161 - 134,338,462 (-)MPROMDB
RGD ID:6806578
Promoter ID:HG_KWN:62149
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:ENST00000354944,   NM_006096,   UC003YUH.1,   UC010MEE.1,   UC010MEF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368134,378,611 - 134,379,212 (-)MPROMDB
RGD ID:6851286
Promoter ID:EP73441
Type:multiple initiation site
Name:HS_NDRG1
Description:N-myc downstream regulated gene 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 368134,378,677 - 134,378,737EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006096.3(NDRG1):c.1101C>T (p.Ser367=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173035]|Charcot-Marie-Tooth disease type 4 [RCV001085980]|Charcot-Marie-Tooth disease, type 4D [RCV001162006]|not provided [RCV000526572]|not specified [RCV000518210] Chr8:133238962 [GRCh38]
Chr8:134251205 [GRCh37]
Chr8:8q24.22
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006096.3(NDRG1):c.304G>A (p.Gly102Ser) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000525303]|Charcot-Marie-Tooth disease, type 4D [RCV001160461] Chr8:133262069 [GRCh38]
Chr8:134274312 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.538-1G>A single nucleotide variant Charcot-Marie-Tooth disease [RCV000790135]|Charcot-Marie-Tooth disease, type 4D [RCV000005428] Chr8:133254596 [GRCh38]
Chr8:134266839 [GRCh37]
Chr8:8q24.22
pathogenic|uncertain significance
NM_006096.4(NDRG1):c.703C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001173712]|Charcot-Marie-Tooth disease type 4 [RCV000528484] Chr8:133248767 [GRCh38]
Chr8:134261010 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.595-6A>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000554764]|not specified [RCV000518495] Chr8:133250549 [GRCh38]
Chr8:134262792 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_001135242.2(NDRG1):c.442C>T (p.Arg148Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000469692]|Charcot-Marie-Tooth disease, type 4D [RCV000005427]|not provided [RCV001092150] Chr8:133258374 [GRCh38]
Chr8:134270617 [GRCh37]
Chr8:8q24.22
pathogenic
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q24.21-24.22(chr8:129176782-134170188)x1 copy number loss See cases [RCV000050751] Chr8:129176782..134170188 [GRCh38]
Chr8:130189028..135182431 [GRCh37]
Chr8:130258210..135251613 [NCBI36]
Chr8:8q24.21-24.22
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.21-24.23(chr8:126626164-137169427)x1 copy number loss See cases [RCV000054306] Chr8:126626164..137169427 [GRCh38]
Chr8:127638409..138181670 [GRCh37]
Chr8:127707591..138250852 [NCBI36]
Chr8:8q24.21-24.23
pathogenic
NG_007943.1:g.(43089_43830)_(47717_51712)dup duplication Charcot-Marie-Tooth disease, type 4D [RCV000119265] Chr8:133254539..133258426 [GRCh38]
Chr8:134266782..134270669 [GRCh37]
Chr8:8q24.22
pathogenic
NM_006096.3(NDRG1):c.755+10T>C single nucleotide variant Charcot-Marie-Tooth disease [RCV001174352]|Charcot-Marie-Tooth disease type 4 [RCV000318466]|Charcot-Marie-Tooth disease, type 4D [RCV001095155]|not specified [RCV000127096] Chr8:133248705 [GRCh38]
Chr8:134260948 [GRCh37]
Chr8:8q24.22
benign
NM_006096.3(NDRG1):c.756-5C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001174351]|Charcot-Marie-Tooth disease type 4 [RCV000265437]|Charcot-Marie-Tooth disease, type 4D [RCV001095264]|not specified [RCV000127097] Chr8:133247931 [GRCh38]
Chr8:134260174 [GRCh37]
Chr8:8q24.22
benign|likely benign
GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3 copy number gain See cases [RCV000133621] Chr8:130115518..141228210 [GRCh38]
Chr8:131127764..142238309 [GRCh37]
Chr8:131196946..142307491 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.22(chr8:132935590-133815152)x3 copy number gain See cases [RCV000143529] Chr8:132935590..133815152 [GRCh38]
Chr8:133947835..134827395 [GRCh37]
Chr8:134017017..134896577 [NCBI36]
Chr8:8q24.22
uncertain significance
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
NM_006096.3(NDRG1):c.331A>C (p.Met111Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173719]|Charcot-Marie-Tooth disease type 4 [RCV000168421]|Charcot-Marie-Tooth disease, type 4D [RCV001095187]|not specified [RCV000422844] Chr8:133259226 [GRCh38]
Chr8:134271469 [GRCh37]
Chr8:8q24.22
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006096.3(NDRG1):c.416C>G (p.Thr139Arg) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000197306] Chr8:133258400 [GRCh38]
Chr8:134270643 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.1152C>T (p.Ser384=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000198280]|not specified [RCV000418922] Chr8:133238911 [GRCh38]
Chr8:134251154 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.3(NDRG1):c.63+6T>C single nucleotide variant Charcot-Marie-Tooth disease [RCV001173036]|Charcot-Marie-Tooth disease type 4 [RCV000199191]|Charcot-Marie-Tooth disease, type 4D [RCV001162094] Chr8:133284243 [GRCh38]
Chr8:134296486 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.69C>A (p.Ile23=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000200519] Chr8:133280262 [GRCh38]
Chr8:134292505 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.3(NDRG1):c.31G>A (p.Ala11Thr) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173729]|Charcot-Marie-Tooth disease type 4 [RCV001083085]|Charcot-Marie-Tooth disease, type 4D [RCV001162095]|not provided [RCV000710163]|not specified [RCV000236080] Chr8:133284281 [GRCh38]
Chr8:134296524 [GRCh37]
Chr8:8q24.22
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006096.3(NDRG1):c.507G>A (p.Ala169=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000206104]|Charcot-Marie-Tooth disease, type 4D [RCV001095157]|not specified [RCV000430451] Chr8:133256807 [GRCh38]
Chr8:134269050 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_006096.4(NDRG1):c.389+92_594+1717dup duplication Charcot-Marie-Tooth disease, type 4D [RCV000203260] Chr8:133252821..133252822 [GRCh38]
Chr8:134265064..134265065 [GRCh37]
Chr8:8q24.22
pathogenic
NM_006096.3(NDRG1):c.307G>T (p.Ala103Ser) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001040156]|not provided [RCV000216638] Chr8:133262066 [GRCh38]
Chr8:134274309 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.1051C>T (p.Arg351Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000226731] Chr8:133239012 [GRCh38]
Chr8:134251255 [GRCh37]
Chr8:8q24.22
likely pathogenic|uncertain significance
NM_006096.3(NDRG1):c.973C>T (p.Arg325Trp) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000232438]|Charcot-Marie-Tooth disease, type 4D [RCV001164014] Chr8:133239090 [GRCh38]
Chr8:134251333 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_006096.3(NDRG1):c.431A>G (p.Tyr144Cys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001071546]|not provided [RCV000235434] Chr8:133258385 [GRCh38]
Chr8:134270628 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_001135242.2(NDRG1):c.1081C>T (p.Arg361Cys) single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV001197027]|not provided [RCV000235589] Chr8:133238982 [GRCh38]
Chr8:134251225 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.205C>T (p.His69Tyr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001039137]|not provided [RCV000236447] Chr8:133264547 [GRCh38]
Chr8:134276790 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.122A>G (p.His41Arg) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173707]|Charcot-Marie-Tooth disease type 4 [RCV000551572]|not provided [RCV000766501]|not specified [RCV000236642] Chr8:133264630 [GRCh38]
Chr8:134276873 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.681dup (p.Ile228fs) duplication Charcot-Marie-Tooth disease [RCV001173032]|not provided [RCV000236853] Chr8:133250456..133250457 [GRCh38]
Chr8:134262699..134262700 [GRCh37]
Chr8:8q24.22
pathogenic
NM_006096.3(NDRG1):c.1088G>A (p.Arg363His) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000548320]|not provided [RCV000999078] Chr8:133238975 [GRCh38]
Chr8:134251218 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_001135242.2(NDRG1):c.64-6T>C single nucleotide variant Charcot-Marie-Tooth disease [RCV001174350]|Charcot-Marie-Tooth disease type 4 [RCV000380925]|Charcot-Marie-Tooth disease, type 4D [RCV000602484]|not specified [RCV000254177] Chr8:133280273 [GRCh38]
Chr8:134292516 [GRCh37]
Chr8:8q24.22
benign
NM_006096.3(NDRG1):c.*691G>A single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV000320327] Chr8:133238187 [GRCh38]
Chr8:134250430 [GRCh37]
Chr8:8q24.22
benign
NM_006096.3(NDRG1):c.*100G>A single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV000346556] Chr8:133238778 [GRCh38]
Chr8:134251021 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_006096.3(NDRG1):c.-120C>T single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV000303440] Chr8:133297235 [GRCh38]
Chr8:134309478 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_006096.3(NDRG1):c.*866A>T single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV000323819] Chr8:133238012 [GRCh38]
Chr8:134250255 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_006096.3(NDRG1):c.196G>A (p.Gly66Ser) single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV000347291] Chr8:133264556 [GRCh38]
Chr8:134276799 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.*402C>T single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV000371692] Chr8:133238476 [GRCh38]
Chr8:134250719 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.*956T>C single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV000270893] Chr8:133237922 [GRCh38]
Chr8:134250165 [GRCh37]
Chr8:8q24.22
benign
NM_006096.3(NDRG1):c.*69C>T single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV000399557] Chr8:133238809 [GRCh38]
Chr8:134251052 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_006096.3(NDRG1):c.892-5C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001174354]|Charcot-Marie-Tooth disease type 4 [RCV000460231]|Charcot-Marie-Tooth disease, type 4D [RCV001095263]|not provided [RCV000712376]|not specified [RCV000440717] Chr8:133242079 [GRCh38]
Chr8:134254322 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_006096.3(NDRG1):c.1028G>A (p.Arg343His) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654063]|Charcot-Marie-Tooth disease, type 4D [RCV001095218] Chr8:133239035 [GRCh38]
Chr8:134251278 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.199A>G (p.Met67Val) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173723]|Charcot-Marie-Tooth disease type 4 [RCV000474896]|Charcot-Marie-Tooth disease, type 4D [RCV001000437] Chr8:133264553 [GRCh38]
Chr8:134276796 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_006096.3(NDRG1):c.307G>C (p.Ala103Pro) single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV000329730] Chr8:133262066 [GRCh38]
Chr8:134274309 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.*264C>G single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV000352518] Chr8:133238614 [GRCh38]
Chr8:134250857 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.3(NDRG1):c.663C>T (p.Pro221=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654230]|Charcot-Marie-Tooth disease, type 4D [RCV001095156]|not specified [RCV000423340] Chr8:133250475 [GRCh38]
Chr8:134262718 [GRCh37]
Chr8:8q24.22
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006096.3(NDRG1):c.*1195G>T single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV000310831] Chr8:133237683 [GRCh38]
Chr8:134249926 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.*184G>A single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV000294088] Chr8:133238694 [GRCh38]
Chr8:134250937 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.664G>A (p.Gly222Ser) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173716]|Charcot-Marie-Tooth disease type 4 [RCV001321424]|Charcot-Marie-Tooth disease, type 4D [RCV000356872]|not provided [RCV000487674] Chr8:133250474 [GRCh38]
Chr8:134262717 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.855+14_855+15del deletion Charcot-Marie-Tooth disease type 4 [RCV000358027] Chr8:133246601..133246602 [GRCh38]
Chr8:134258844..134258845 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.*1622T>G single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV000335347] Chr8:133237256 [GRCh38]
Chr8:134249499 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.3(NDRG1):c.*834T>A single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV000359925] Chr8:133238044 [GRCh38]
Chr8:134250287 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_006096.3(NDRG1):c.*1340G>A single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV000314362] Chr8:133237538 [GRCh38]
Chr8:134249781 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.306C>T (p.Gly102=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174353]|Charcot-Marie-Tooth disease type 4 [RCV000459992]|Charcot-Marie-Tooth disease, type 4D [RCV001095188]|not provided [RCV000712374] Chr8:133262067 [GRCh38]
Chr8:134274310 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_006096.3(NDRG1):c.*1706G>A single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV000279871] Chr8:133237172 [GRCh38]
Chr8:134249415 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.373G>A (p.Val125Ile) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001240420]|Charcot-Marie-Tooth disease, type 4D [RCV000387685] Chr8:133259184 [GRCh38]
Chr8:134271427 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.*653T>C single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV000280592] Chr8:133238225 [GRCh38]
Chr8:134250468 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.3(NDRG1):c.-157C>T single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV000297444] Chr8:133297272 [GRCh38]
Chr8:134309515 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.1027C>T (p.Arg343Cys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000462824]|Charcot-Marie-Tooth disease, type 4D [RCV001095219]|not provided [RCV000478522] Chr8:133239036 [GRCh38]
Chr8:134251279 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.*711C>T single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV000265232] Chr8:133238167 [GRCh38]
Chr8:134250410 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_006096.3(NDRG1):c.*1135G>A single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV000365447] Chr8:133237743 [GRCh38]
Chr8:134249986 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_006096.3(NDRG1):c.*1294T>C single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV000392091] Chr8:133237584 [GRCh38]
Chr8:134249827 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_006096.3(NDRG1):c.*1473G>A single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV000392096] Chr8:133237405 [GRCh38]
Chr8:134249648 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_006096.3(NDRG1):c.894G>A (p.Pro298=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000392608]|Charcot-Marie-Tooth disease, type 4D [RCV001095262] Chr8:133242072 [GRCh38]
Chr8:134254315 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.64-20dup duplication Charcot-Marie-Tooth disease type 4 [RCV000288901]|not specified [RCV000480192] Chr8:133280279..133280280 [GRCh38]
Chr8:134292522..134292523 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_006096.4(NDRG1):c.42G>A (p.Lys14=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001278104] Chr8:133284270 [GRCh38]
Chr8:134296513 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.751C>G (p.Leu251Val) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001279784] Chr8:133248719 [GRCh38]
Chr8:134260962 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.743C>T (p.Thr248Ile) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001279785] Chr8:133248727 [GRCh38]
Chr8:134260970 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.691T>A (p.Tyr231Asn) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001279786] Chr8:133250447 [GRCh38]
Chr8:134262690 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.660C>A (p.Asn220Lys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001083966]|not provided [RCV000488995] Chr8:133250478 [GRCh38]
Chr8:134262721 [GRCh37]
Chr8:8q24.22
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006096.3(NDRG1):c.-64G>A single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV000401323] Chr8:133297179 [GRCh38]
Chr8:134309422 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.965G>A (p.Arg322His) single nucleotide variant not specified [RCV000516767] Chr8:133239098 [GRCh38]
Chr8:134251341 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.1022G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000685216]|not provided [RCV000520826] Chr8:133239041 [GRCh38]
Chr8:134251284 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.*618T>G single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV000317032] Chr8:133238260 [GRCh38]
Chr8:134250503 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.*306C>T single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV000295355] Chr8:133238572 [GRCh38]
Chr8:134250815 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.*1296C>T single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV000369057] Chr8:133237582 [GRCh38]
Chr8:134249825 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.-123T>G single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV000337386] Chr8:133297238 [GRCh38]
Chr8:134309481 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.-128C>T single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV000408078] Chr8:133297243 [GRCh38]
Chr8:134309486 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.*201A>T single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV000390191] Chr8:133238677 [GRCh38]
Chr8:134250920 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.-173G>A single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV000354750] Chr8:133297288 [GRCh38]
Chr8:134309531 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.*677C>T single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV000375060] Chr8:133238201 [GRCh38]
Chr8:134250444 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.-19+14C>G single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV000343267]|not specified [RCV000613453] Chr8:133297120 [GRCh38]
Chr8:134309363 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_006096.4(NDRG1):c.704G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000695093]|not provided [RCV000520129] Chr8:133248766 [GRCh38]
Chr8:134261009 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.891+15G>A single nucleotide variant not specified [RCV000606447] Chr8:133244340 [GRCh38]
Chr8:134256583 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.3(NDRG1):c.1070G>C (p.Ser357Thr) single nucleotide variant not specified [RCV000517479] Chr8:133238993 [GRCh38]
Chr8:134251236 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.1077_1106dup (p.340_349TRSRSHTSEG[4]) duplication Charcot-Marie-Tooth disease type 4 [RCV000538119] Chr8:133238956..133238957 [GRCh38]
Chr8:134251199..134251200 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_006096.3(NDRG1):c.861G>A (p.Ala287=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174345]|Charcot-Marie-Tooth disease type 4 [RCV000538653] Chr8:133244385 [GRCh38]
Chr8:134256628 [GRCh37]
Chr8:8q24.22
likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_006096.3(NDRG1):c.808-6G>T single nucleotide variant not specified [RCV000431033] Chr8:133246669 [GRCh38]
Chr8:134258912 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.3(NDRG1):c.732G>A (p.Pro244=) single nucleotide variant not specified [RCV000417606] Chr8:133248738 [GRCh38]
Chr8:134260981 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.3(NDRG1):c.789G>A (p.Ser263=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173724]|Charcot-Marie-Tooth disease type 4 [RCV001081907]|Charcot-Marie-Tooth disease, type 4D [RCV001164018]|not provided [RCV000712375]|not specified [RCV000424651] Chr8:133247893 [GRCh38]
Chr8:134260136 [GRCh37]
Chr8:8q24.22
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006096.3(NDRG1):c.*2C>T single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV001162004]|not specified [RCV000442327] Chr8:133238876 [GRCh38]
Chr8:134251119 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_006096.3(NDRG1):c.-8G>A single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV001164118]|not specified [RCV000432184] Chr8:133284319 [GRCh38]
Chr8:134296562 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_006096.3(NDRG1):c.595-12C>T single nucleotide variant not specified [RCV000432201] Chr8:133250555 [GRCh38]
Chr8:134262798 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.3(NDRG1):c.393G>A (p.Leu131=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173727]|Charcot-Marie-Tooth disease type 4 [RCV000868643]|not specified [RCV000429631] Chr8:133258423 [GRCh38]
Chr8:134270666 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.3(NDRG1):c.973C>A (p.Arg325=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174346]|Charcot-Marie-Tooth disease type 4 [RCV000860567]|not specified [RCV000419974] Chr8:133239090 [GRCh38]
Chr8:134251333 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.3(NDRG1):c.-19+367G>T single nucleotide variant not specified [RCV000422799] Chr8:133296767 [GRCh38]
Chr8:134309010 [GRCh37]
Chr8:8q24.22
benign
NM_006096.3(NDRG1):c.*18C>T single nucleotide variant not specified [RCV000427036] Chr8:133238860 [GRCh38]
Chr8:134251103 [GRCh37]
Chr8:8q24.22
likely benign
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
NM_006096.3(NDRG1):c.506C>T (p.Ala169Val) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000457547] Chr8:133256808 [GRCh38]
Chr8:134269051 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.891+5G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000463081]|Charcot-Marie-Tooth disease, type 4D [RCV001273463] Chr8:133244350 [GRCh38]
Chr8:134256593 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.893C>T (p.Pro298Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000472141] Chr8:133242073 [GRCh38]
Chr8:134254316 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.205+1G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000468626] Chr8:133264546 [GRCh38]
Chr8:134276789 [GRCh37]
Chr8:8q24.22
pathogenic|likely pathogenic
NM_006096.3(NDRG1):c.879G>A (p.Pro293=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174347]|Charcot-Marie-Tooth disease type 4 [RCV000476686]|Charcot-Marie-Tooth disease, type 4D [RCV001286100]|not specified [RCV000607533] Chr8:133244367 [GRCh38]
Chr8:134256610 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_006096.3(NDRG1):c.980G>A (p.Arg327His) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654182]|not provided [RCV000486876] Chr8:133239083 [GRCh38]
Chr8:134251326 [GRCh37]
Chr8:8q24.22
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
NM_006096.3(NDRG1):c.1112_1114delinsTTT (p.His371Leu) indel Charcot-Marie-Tooth disease type 4 [RCV000541316] Chr8:133238949..133238951 [GRCh38]
Chr8:134251192..134251194 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.1155C>T (p.Ala385=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000870007]|Charcot-Marie-Tooth disease, type 4D [RCV001162005]|not specified [RCV000601640] Chr8:133238908 [GRCh38]
Chr8:134251151 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_006096.3(NDRG1):c.944-13C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001173721]|Charcot-Marie-Tooth disease, type 4D [RCV001164016]|not specified [RCV000615640] Chr8:133239132 [GRCh38]
Chr8:134251375 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_006096.3(NDRG1):c.964C>T (p.Arg322Cys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654045] Chr8:133239099 [GRCh38]
Chr8:134251342 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.1032_1091del (p.340_349TRSRSHTSEG[1]) deletion Charcot-Marie-Tooth disease type 4 [RCV000654067] Chr8:133238972..133239031 [GRCh38]
Chr8:134251215..134251274 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.800A>G (p.Asp267Gly) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654073] Chr8:133247882 [GRCh38]
Chr8:134260125 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.1085G>A (p.Ser362Asn) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654095]|not provided [RCV001171994] Chr8:133238978 [GRCh38]
Chr8:134251221 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.686A>G (p.Asn229Ser) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173714]|Charcot-Marie-Tooth disease type 4 [RCV000654118]|Charcot-Marie-Tooth disease, type 4D [RCV001159104] Chr8:133250452 [GRCh38]
Chr8:134262695 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.904G>A (p.Ala302Thr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654131] Chr8:133242062 [GRCh38]
Chr8:134254305 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.1109C>G (p.Ala370Gly) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173038]|Charcot-Marie-Tooth disease type 4 [RCV000654176] Chr8:133238954 [GRCh38]
Chr8:134251197 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.1109C>T (p.Ala370Val) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173713]|Charcot-Marie-Tooth disease type 4 [RCV000654187] Chr8:133238954 [GRCh38]
Chr8:134251197 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.613G>A (p.Val205Met) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654189]|Charcot-Marie-Tooth disease, type 4D [RCV001273464] Chr8:133250525 [GRCh38]
Chr8:134262768 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.212C>A (p.Thr71Asn) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654196] Chr8:133262161 [GRCh38]
Chr8:134274404 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.528C>G (p.Ala176=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654205]|Charcot-Marie-Tooth disease, type 4D [RCV001159107] Chr8:133256786 [GRCh38]
Chr8:134269029 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_006096.3(NDRG1):c.755+9C>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654210] Chr8:133248706 [GRCh38]
Chr8:134260949 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.3(NDRG1):c.1086C>T (p.Ser362=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654252] Chr8:133238977 [GRCh38]
Chr8:134251220 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.3(NDRG1):c.892-9C>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654220] Chr8:133242083 [GRCh38]
Chr8:134254326 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.3(NDRG1):c.93T>C (p.Asp31=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654263] Chr8:133280238 [GRCh38]
Chr8:134292481 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.3(NDRG1):c.389+8C>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654271] Chr8:133259160 [GRCh38]
Chr8:134271403 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.3(NDRG1):c.303C>T (p.Asp101=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654278] Chr8:133262070 [GRCh38]
Chr8:134274313 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.3(NDRG1):c.813G>A (p.Glu271=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000654279] Chr8:133246658 [GRCh38]
Chr8:134258901 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.3(NDRG1):c.106G>T (p.Asp36Tyr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000557570] Chr8:133264646 [GRCh38]
Chr8:134276889 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.129T>C (p.Ser43=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000861151]|not specified [RCV000614664] Chr8:133264623 [GRCh38]
Chr8:134276866 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.3(NDRG1):c.594+8G>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000540024] Chr8:133254531 [GRCh38]
Chr8:134266774 [GRCh37]
Chr8:8q24.22
likely benign
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
NM_006096.3(NDRG1):c.1095C>T (p.His365=) single nucleotide variant not specified [RCV000605145] Chr8:133238968 [GRCh38]
Chr8:134251211 [GRCh37]
Chr8:8q24.22
likely benign
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.22(chr8:134201586-134851366)x3 copy number gain not provided [RCV000682993] Chr8:134201586..134851366 [GRCh37]
Chr8:8q24.22
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
NM_006096.3(NDRG1):c.956G>A (p.Ser319Asn) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000701620]|Charcot-Marie-Tooth disease, type 4D [RCV001273462] Chr8:133239107 [GRCh38]
Chr8:134251350 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.166C>T (p.Arg56Trp) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000693740] Chr8:133264586 [GRCh38]
Chr8:134276829 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.311C>A (p.Ala104Asp) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000686672] Chr8:133262062 [GRCh38]
Chr8:134274305 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.345G>T (p.Met115Ile) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000707461] Chr8:133259212 [GRCh38]
Chr8:134271455 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.4T>C (p.Ser2Pro) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000705275] Chr8:133284308 [GRCh38]
Chr8:134296551 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.563C>T (p.Pro188Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000688931] Chr8:133254570 [GRCh38]
Chr8:134266813 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.950C>T (p.Ser317Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000694575] Chr8:133239113 [GRCh38]
Chr8:134251356 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.891+2T>C single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001065004] Chr8:133244353 [GRCh38]
Chr8:134256596 [GRCh37]
Chr8:8q24.22
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:133621137-140433338)x1 copy number loss not provided [RCV000747861] Chr8:133621137..140433338 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
NM_006096.4(NDRG1):c.195C>T (p.Ile65=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000979539] Chr8:133264557 [GRCh38]
Chr8:134276800 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.4(NDRG1):c.975G>A (p.Arg325=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000862002] Chr8:133239088 [GRCh38]
Chr8:134251331 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.4(NDRG1):c.999C>T (p.Ser333=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000871965] Chr8:133239064 [GRCh38]
Chr8:134251307 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.4(NDRG1):c.1062_1091dup (p.340_349TRSRSHTSEG[4]) duplication Charcot-Marie-Tooth disease type 4 [RCV001067265] Chr8:133238971..133238972 [GRCh38]
Chr8:134251214..134251215 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.*791C>T single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV001163937] Chr8:133238087 [GRCh38]
Chr8:134250330 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.1062_1091del (p.340_349TRSRSHTSEG[2]) deletion Charcot-Marie-Tooth disease type 4 [RCV001321784]|not provided [RCV000999077] Chr8:133238972..133239001 [GRCh38]
Chr8:134251215..134251244 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.951G>A (p.Ser317=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001295233]|Charcot-Marie-Tooth disease, type 4D [RCV001164015] Chr8:133239112 [GRCh38]
Chr8:134251355 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.870C>T (p.Gly290=) single nucleotide variant not provided [RCV000929219] Chr8:133244376 [GRCh38]
Chr8:134256619 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.4(NDRG1):c.279C>T (p.His93=) single nucleotide variant not provided [RCV000866433] Chr8:133262094 [GRCh38]
Chr8:134274337 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.4(NDRG1):c.285C>T (p.Asp95=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000866695] Chr8:133262088 [GRCh38]
Chr8:134274331 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.4(NDRG1):c.594+9C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001174348]|Charcot-Marie-Tooth disease type 4 [RCV000868459]|Charcot-Marie-Tooth disease, type 4D [RCV001273466] Chr8:133254530 [GRCh38]
Chr8:134266773 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_006096.4(NDRG1):c.352C>T (p.Leu118=) single nucleotide variant not provided [RCV000869313] Chr8:133259205 [GRCh38]
Chr8:134271448 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.4(NDRG1):c.453A>G (p.Leu151=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000883373] Chr8:133256861 [GRCh38]
Chr8:134269104 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.4(NDRG1):c.264C>T (p.His88=) single nucleotide variant not provided [RCV000867022] Chr8:133262109 [GRCh38]
Chr8:134274352 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.4(NDRG1):c.1092G>A (p.Ser364=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000867038] Chr8:133238971 [GRCh38]
Chr8:134251214 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.4(NDRG1):c.135C>T (p.His45=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000867060] Chr8:133264617 [GRCh38]
Chr8:134276860 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.4(NDRG1):c.30C>T (p.Leu10=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000867717] Chr8:133284282 [GRCh38]
Chr8:134296525 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.4(NDRG1):c.702G>A (p.Arg234=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000864478] Chr8:133248768 [GRCh38]
Chr8:134261011 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.4(NDRG1):c.987C>T (p.Ala329=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000868100]|Charcot-Marie-Tooth disease, type 4D [RCV001273461] Chr8:133239076 [GRCh38]
Chr8:134251319 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_006096.4(NDRG1):c.669C>T (p.Asn223=) single nucleotide variant not provided [RCV000871546] Chr8:133250469 [GRCh38]
Chr8:134262712 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.4(NDRG1):c.843C>T (p.Thr281=) single nucleotide variant not provided [RCV000871651] Chr8:133246628 [GRCh38]
Chr8:134258871 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.4(NDRG1):c.403A>G (p.Ile135Val) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173718]|Charcot-Marie-Tooth disease type 4 [RCV000868261]|Charcot-Marie-Tooth disease, type 4D [RCV001273467] Chr8:133258413 [GRCh38]
Chr8:134270656 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_006096.4(NDRG1):c.698+9A>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000866228] Chr8:133250431 [GRCh38]
Chr8:134262674 [GRCh37]
Chr8:8q24.22
likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_006096.4(NDRG1):c.50T>A (p.Val17Glu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001062025] Chr8:133284262 [GRCh38]
Chr8:134296505 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.355G>C (p.Ala119Pro) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001042903] Chr8:133259202 [GRCh38]
Chr8:134271445 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.400A>G (p.Ile134Val) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001036456] Chr8:133258416 [GRCh38]
Chr8:134270659 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.1011G>A (p.Leu337=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001048952] Chr8:133239052 [GRCh38]
Chr8:134251295 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.99+187A>G single nucleotide variant not provided [RCV000826411] Chr8:133280045 [GRCh38]
Chr8:134292288 [GRCh37]
Chr8:8q24.22
benign
NM_006096.3(NDRG1):c.807+268A>G single nucleotide variant not provided [RCV000827709] Chr8:133247607 [GRCh38]
Chr8:134259850 [GRCh37]
Chr8:8q24.22
benign
NM_006096.4(NDRG1):c.448G>T (p.Ala150Ser) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173708]|Charcot-Marie-Tooth disease type 4 [RCV000864008]|Charcot-Marie-Tooth disease, type 4D [RCV001160458] Chr8:133258368 [GRCh38]
Chr8:134270611 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_006096.4(NDRG1):c.321C>T (p.Pro107=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000875750] Chr8:133262052 [GRCh38]
Chr8:134274295 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.4(NDRG1):c.856-5C>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000868032] Chr8:133244395 [GRCh38]
Chr8:134256638 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.4(NDRG1):c.944-6C>T single nucleotide variant not provided [RCV000981035] Chr8:133239125 [GRCh38]
Chr8:134251368 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.4(NDRG1):c.165C>T (p.Asn55=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000867840] Chr8:133264587 [GRCh38]
Chr8:134276830 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.4(NDRG1):c.594+10G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000875140]|Charcot-Marie-Tooth disease, type 4D [RCV001273465] Chr8:133254529 [GRCh38]
Chr8:134266772 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_006096.4(NDRG1):c.651T>C (p.Asn217=) single nucleotide variant not provided [RCV000980238] Chr8:133250487 [GRCh38]
Chr8:134262730 [GRCh37]
Chr8:8q24.22
likely benign
GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1 copy number loss not provided [RCV001006144] Chr8:126892814..143750028 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
NM_006096.4(NDRG1):c.855+8G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000936872] Chr8:133246608 [GRCh38]
Chr8:134258851 [GRCh37]
Chr8:8q24.22
benign
NM_006096.3(NDRG1):c.755+141A>G single nucleotide variant not provided [RCV000831793] Chr8:133248574 [GRCh38]
Chr8:134260817 [GRCh37]
Chr8:8q24.22
benign
NM_006096.3(NDRG1):c.856-221A>T single nucleotide variant not provided [RCV000831794] Chr8:133244611 [GRCh38]
Chr8:134256854 [GRCh37]
Chr8:8q24.22
benign
NM_006096.3(NDRG1):c.807+253C>T single nucleotide variant not provided [RCV000830883] Chr8:133247622 [GRCh38]
Chr8:134259865 [GRCh37]
Chr8:8q24.22
benign
NM_006096.3(NDRG1):c.158A>G (p.Lys53Arg) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000804497] Chr8:133264594 [GRCh38]
Chr8:134276837 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.523T>C (p.Trp175Arg) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000799335] Chr8:133256791 [GRCh38]
Chr8:134269034 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.699-51A>C single nucleotide variant not provided [RCV000832724] Chr8:133248822 [GRCh38]
Chr8:134261065 [GRCh37]
Chr8:8q24.22
benign
NM_006096.3(NDRG1):c.571G>A (p.Val191Met) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000810461] Chr8:133254562 [GRCh38]
Chr8:134266805 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.656T>A (p.Met219Lys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000807473] Chr8:133250482 [GRCh38]
Chr8:134262725 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.1046G>A (p.Gly349Asp) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000819620]|Charcot-Marie-Tooth disease, type 4D [RCV001273460] Chr8:133239017 [GRCh38]
Chr8:134251260 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.776T>C (p.Val259Ala) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000811487] Chr8:133247906 [GRCh38]
Chr8:134260149 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.-18-150A>G single nucleotide variant not provided [RCV000826422] Chr8:133284479 [GRCh38]
Chr8:134296722 [GRCh37]
Chr8:8q24.22
benign
NM_006096.3(NDRG1):c.251A>G (p.Glu84Gly) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000814973] Chr8:133262122 [GRCh38]
Chr8:134274365 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.-19+49C>T single nucleotide variant not provided [RCV000833495] Chr8:133297085 [GRCh38]
Chr8:134309328 [GRCh37]
Chr8:8q24.22
benign
NM_006096.3(NDRG1):c.167G>A (p.Arg56Gln) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000822017] Chr8:133264585 [GRCh38]
Chr8:134276828 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.698+151A>G single nucleotide variant not provided [RCV000826415] Chr8:133250289 [GRCh38]
Chr8:134262532 [GRCh37]
Chr8:8q24.22
benign
NM_006096.3(NDRG1):c.99+245T>C single nucleotide variant not provided [RCV000826424] Chr8:133279987 [GRCh38]
Chr8:134292230 [GRCh37]
Chr8:8q24.22
benign
NM_006096.3(NDRG1):c.807+310T>C single nucleotide variant not provided [RCV000830884] Chr8:133247565 [GRCh38]
Chr8:134259808 [GRCh37]
Chr8:8q24.22
benign
NM_006096.3(NDRG1):c.326+1G>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000808279] Chr8:133262046 [GRCh38]
Chr8:134274289 [GRCh37]
Chr8:8q24.22
likely pathogenic
NM_006096.3(NDRG1):c.326+64G>C single nucleotide variant not provided [RCV000826412] Chr8:133261983 [GRCh38]
Chr8:134274226 [GRCh37]
Chr8:8q24.22
benign
NM_006096.3(NDRG1):c.538-132G>C single nucleotide variant not provided [RCV000826414] Chr8:133254727 [GRCh38]
Chr8:134266970 [GRCh37]
Chr8:8q24.22
benign
NM_006096.3(NDRG1):c.855+148T>C single nucleotide variant not provided [RCV000826420] Chr8:133246468 [GRCh38]
Chr8:134258711 [GRCh37]
Chr8:8q24.22
benign
NM_006096.3(NDRG1):c.582C>G (p.His194Gln) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000804049] Chr8:133254551 [GRCh38]
Chr8:134266794 [GRCh37]
Chr8:8q24.22
uncertain significance
NC_000008.10:g.(?_133141489)_(134296574_?)dup duplication Charcot-Marie-Tooth disease type 4 [RCV000804620] Chr8:133141489..134296574 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.944-87= single nucleotide variant not provided [RCV000826419] Chr8:133239206 [GRCh38]
Chr8:134251449 [GRCh37]
Chr8:8q24.22
benign
NM_006096.3(NDRG1):c.206-264A>G single nucleotide variant not provided [RCV000827708] Chr8:133262431 [GRCh38]
Chr8:134274674 [GRCh37]
Chr8:8q24.22
benign
NM_006096.3(NDRG1):c.892-123C>A single nucleotide variant not provided [RCV000837891] Chr8:133242197 [GRCh38]
Chr8:134254440 [GRCh37]
Chr8:8q24.22
likely benign
GRCh37/hg19 8q24.13-24.22(chr8:124120772-135265846)x1 copy number loss not provided [RCV000848438] Chr8:124120772..135265846 [GRCh37]
Chr8:8q24.13-24.22
pathogenic
NM_006096.3(NDRG1):c.100-40A>T single nucleotide variant not provided [RCV000835339] Chr8:133264692 [GRCh38]
Chr8:134276935 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.3(NDRG1):c.1091C>T (p.Ser364Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000813279] Chr8:133238972 [GRCh38]
Chr8:134251215 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.1042G>C (p.Glu348Gln) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000807819] Chr8:133239021 [GRCh38]
Chr8:134251264 [GRCh37]
Chr8:8q24.22
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
NM_006096.3(NDRG1):c.426C>T (p.Gly142=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000804874] Chr8:133258390 [GRCh38]
Chr8:134270633 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.698+84A>G single nucleotide variant not provided [RCV000832664] Chr8:133250356 [GRCh38]
Chr8:134262599 [GRCh37]
Chr8:8q24.22
benign
NM_006096.3(NDRG1):c.891+283G>A single nucleotide variant not provided [RCV000832706] Chr8:133244072 [GRCh38]
Chr8:134256315 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.3(NDRG1):c.699-282G>A single nucleotide variant not provided [RCV000828953] Chr8:133249053 [GRCh38]
Chr8:134261296 [GRCh37]
Chr8:8q24.22
benign
NM_006096.3(NDRG1):c.891+39C>A single nucleotide variant not provided [RCV000832725] Chr8:133244316 [GRCh38]
Chr8:134256559 [GRCh37]
Chr8:8q24.22
benign
NM_006096.3(NDRG1):c.450+61A>G single nucleotide variant not provided [RCV000829694] Chr8:133258305 [GRCh38]
Chr8:134270548 [GRCh37]
Chr8:8q24.22
benign
NM_006096.4(NDRG1):c.-99A>G single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV001164119] Chr8:133297214 [GRCh38]
Chr8:134309457 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.307G>A (p.Ala103Thr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000791876] Chr8:133262066 [GRCh38]
Chr8:134274309 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.943+215T>C single nucleotide variant not provided [RCV000826418] Chr8:133241808 [GRCh38]
Chr8:134254051 [GRCh37]
Chr8:8q24.22
benign
NM_006096.3(NDRG1):c.595-129G>A single nucleotide variant not provided [RCV000826440] Chr8:133250672 [GRCh38]
Chr8:134262915 [GRCh37]
Chr8:8q24.22
benign
NM_006096.3(NDRG1):c.1053_1082del (p.340_349TRSRSHTSEG[2]) deletion Charcot-Marie-Tooth disease [RCV001174338]|Charcot-Marie-Tooth disease type 4 [RCV000792340]|Charcot-Marie-Tooth disease, type 4D [RCV001286510]|not provided [RCV000999079] Chr8:133238981..133239010 [GRCh38]
Chr8:134251224..134251253 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_006096.4(NDRG1):c.856-157= single nucleotide variant not provided [RCV000826416] Chr8:133244547 [GRCh38]
Chr8:134256790 [GRCh37]
Chr8:8q24.22
benign
NM_006096.3(NDRG1):c.1134G>A (p.Ser378=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173726]|Charcot-Marie-Tooth disease type 4 [RCV000792343] Chr8:133238929 [GRCh38]
Chr8:134251172 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_006096.3(NDRG1):c.-18-170A>G single nucleotide variant not provided [RCV000826421] Chr8:133284499 [GRCh38]
Chr8:134296742 [GRCh37]
Chr8:8q24.22
benign
NM_006096.3(NDRG1):c.99+234G>A single nucleotide variant not provided [RCV000826423] Chr8:133279998 [GRCh38]
Chr8:134292241 [GRCh37]
Chr8:8q24.22
benign
NM_006096.4(NDRG1):c.528C>T (p.Ala176=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000861561]|Charcot-Marie-Tooth disease, type 4D [RCV001159106]|not provided [RCV001289033] Chr8:133256786 [GRCh38]
Chr8:134269029 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_006096.3(NDRG1):c.389+82G>T single nucleotide variant not provided [RCV000831678] Chr8:133259086 [GRCh38]
Chr8:134271329 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.3(NDRG1):c.1153G>A (p.Ala385Thr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000811917]|not provided [RCV001289032] Chr8:133238910 [GRCh38]
Chr8:134251153 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.3(NDRG1):c.327-48C>G single nucleotide variant not provided [RCV000830210] Chr8:133259278 [GRCh38]
Chr8:134271521 [GRCh37]
Chr8:8q24.22
benign
NM_006096.4(NDRG1):c.*854G>A single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV001163936] Chr8:133238024 [GRCh38]
Chr8:134250267 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.804C>T (p.Ala268=) single nucleotide variant not provided [RCV000869615] Chr8:133247878 [GRCh38]
Chr8:134260121 [GRCh37]
Chr8:8q24.22
likely benign
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
NM_006096.4(NDRG1):c.1041C>T (p.Ser347=) single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV001162008] Chr8:133239022 [GRCh38]
Chr8:134251265 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.756-13T>C single nucleotide variant Charcot-Marie-Tooth disease [RCV001174344] Chr8:133247939 [GRCh38]
Chr8:134260182 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.4(NDRG1):c.72C>T (p.Thr24=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174349] Chr8:133280259 [GRCh38]
Chr8:134292502 [GRCh37]
Chr8:8q24.22
likely benign
NC_000008.11:g.(?_133236171)_(133298304_?)dup duplication Charcot-Marie-Tooth disease type 4 [RCV001031724] Chr8:134248414..134310547 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.1053A>C (p.Arg351=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174340] Chr8:133239010 [GRCh38]
Chr8:134251253 [GRCh37]
Chr8:8q24.22
likely benign
GRCh37/hg19 8q24.22(chr8:131915430-135240074)x1 copy number loss not provided [RCV000845974] Chr8:131915430..135240074 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.7C>T (p.Arg3Trp) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001242911] Chr8:133284305 [GRCh38]
Chr8:134296548 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.450+2_450+3del microsatellite Charcot-Marie-Tooth disease type 4 [RCV001214054] Chr8:133258363..133258364 [GRCh38]
Chr8:134270606..134270607 [GRCh37]
Chr8:8q24.22
likely pathogenic
NM_006096.4(NDRG1):c.758G>A (p.Cys253Tyr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001216976] Chr8:133247924 [GRCh38]
Chr8:134260167 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.1052G>A (p.Arg351Gln) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001240735] Chr8:133239011 [GRCh38]
Chr8:134251254 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.319C>T (p.Pro107Ser) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001239204] Chr8:133262054 [GRCh38]
Chr8:134274297 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.337C>T (p.Pro113Ser) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001242898] Chr8:133259220 [GRCh38]
Chr8:134271463 [GRCh37]
Chr8:8q24.22
uncertain significance
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
NM_006096.4(NDRG1):c.794C>T (p.Ala265Val) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001209594] Chr8:133247888 [GRCh38]
Chr8:134260131 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.701G>A (p.Arg234Gln) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001238680] Chr8:133248769 [GRCh38]
Chr8:134261012 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.12G>T (p.Glu4Asp) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173711] Chr8:133284300 [GRCh38]
Chr8:134296543 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.1156G>A (p.Gly386Arg) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001242394] Chr8:133238907 [GRCh38]
Chr8:134251150 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.899A>G (p.Lys300Arg) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001232996] Chr8:133242067 [GRCh38]
Chr8:134254310 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.944-1G>T single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV000985080] Chr8:133239120 [GRCh38]
Chr8:134251363 [GRCh37]
Chr8:8q24.22
pathogenic|likely pathogenic
NM_006096.4(NDRG1):c.47T>C (p.Leu16Ser) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001212096] Chr8:133284265 [GRCh38]
Chr8:134296508 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.498C>A (p.Asn166Lys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001249709] Chr8:133256816 [GRCh38]
Chr8:134269059 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.306C>A (p.Gly102=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000908345] Chr8:133262067 [GRCh38]
Chr8:134274310 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.4(NDRG1):c.438A>C (p.Leu146=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000869818] Chr8:133258378 [GRCh38]
Chr8:134270621 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.4(NDRG1):c.856-9C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001174336]|not provided [RCV000886772] Chr8:133244399 [GRCh38]
Chr8:134256642 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.4(NDRG1):c.666C>A (p.Gly222=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001278100]|not provided [RCV000978796] Chr8:133250472 [GRCh38]
Chr8:134262715 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_006096.4(NDRG1):c.100-6C>T single nucleotide variant not provided [RCV000931971] Chr8:133264658 [GRCh38]
Chr8:134276901 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.4(NDRG1):c.228C>T (p.Leu76=) single nucleotide variant not provided [RCV000932187] Chr8:133262145 [GRCh38]
Chr8:134274388 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.4(NDRG1):c.1167C>T (p.Ser389=) single nucleotide variant not provided [RCV000878066] Chr8:133238896 [GRCh38]
Chr8:134251139 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.4(NDRG1):c.906T>G (p.Ala302=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV000938934] Chr8:133242060 [GRCh38]
Chr8:134254303 [GRCh37]
Chr8:8q24.22
benign
NM_006096.4(NDRG1):c.805G>A (p.Val269Met) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001203451] Chr8:133247877 [GRCh38]
Chr8:134260120 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.722G>A (p.Arg241Gln) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001239793] Chr8:133248748 [GRCh38]
Chr8:134260991 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.185A>G (p.Tyr62Cys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001243510] Chr8:133264567 [GRCh38]
Chr8:134276810 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.*1361C>A single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV001160254] Chr8:133237517 [GRCh38]
Chr8:134249760 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.*1300G>C single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV001160256] Chr8:133237578 [GRCh38]
Chr8:134249821 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.*91G>A single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV001160347] Chr8:133238787 [GRCh38]
Chr8:134251030 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.387T>G (p.Phe129Leu) single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV001160459] Chr8:133259170 [GRCh38]
Chr8:134271413 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.322G>A (p.Ala108Thr) single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV001160460] Chr8:133262051 [GRCh38]
Chr8:134274294 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.730C>T (p.Pro244Ser) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001241039] Chr8:133248740 [GRCh38]
Chr8:134260983 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.706G>A (p.Asp236Asn) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173706] Chr8:133248764 [GRCh38]
Chr8:134261007 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.140C>T (p.Thr47Met) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001241365] Chr8:133264612 [GRCh38]
Chr8:134276855 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.699-3C>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001243922] Chr8:133248774 [GRCh38]
Chr8:134261017 [GRCh37]
Chr8:8q24.22
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
NM_006096.4(NDRG1):c.*1621C>T single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV001160253] Chr8:133237257 [GRCh38]
Chr8:134249500 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.*1339C>T single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV001160255] Chr8:133237539 [GRCh38]
Chr8:134249782 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.*1299C>T single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV001160257] Chr8:133237579 [GRCh38]
Chr8:134249822 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.*228G>A single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV001160346] Chr8:133238650 [GRCh38]
Chr8:134250893 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.270C>T (p.Ala90=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001278102]|Charcot-Marie-Tooth disease, type 4D [RCV001162093] Chr8:133262103 [GRCh38]
Chr8:134274346 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.4T>G (p.Ser2Ala) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173034]|Charcot-Marie-Tooth disease, type 4D [RCV001162096] Chr8:133284308 [GRCh38]
Chr8:134296551 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.1000G>A (p.Val334Ile) single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV001162009] Chr8:133239063 [GRCh38]
Chr8:134251306 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.488T>C (p.Ile163Thr) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173033]|Charcot-Marie-Tooth disease type 4 [RCV001243503] Chr8:133256826 [GRCh38]
Chr8:134269069 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.1062C>G (p.Ser354=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173720] Chr8:133239001 [GRCh38]
Chr8:134251244 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.4(NDRG1):c.100-3C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001173722]|Charcot-Marie-Tooth disease type 4 [RCV001240869] Chr8:133264655 [GRCh38]
Chr8:134276898 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_006096.4(NDRG1):c.201G>A (p.Met67Ile) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001066425] Chr8:133264551 [GRCh38]
Chr8:134276794 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.*392G>A single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV001159007] Chr8:133238486 [GRCh38]
Chr8:134250729 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.*308C>T single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV001159009] Chr8:133238570 [GRCh38]
Chr8:134250813 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.637C>A (p.Gln213Lys) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173037] Chr8:133250501 [GRCh38]
Chr8:134262744 [GRCh37]
Chr8:8q24.22
uncertain significance
NC_000008.11:g.133297281T>G single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV001159210] Chr8:133297281 [GRCh38]
Chr8:134309524 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.892-11G>A single nucleotide variant Charcot-Marie-Tooth disease [RCV001174337] Chr8:133242085 [GRCh38]
Chr8:134254328 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.4(NDRG1):c.389+13G>C single nucleotide variant Charcot-Marie-Tooth disease [RCV001174342] Chr8:133259155 [GRCh38]
Chr8:134271398 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.4(NDRG1):c.*31T>G single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV001160349] Chr8:133238847 [GRCh38]
Chr8:134251090 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.756-5_756-4delinsTG indel Charcot-Marie-Tooth disease [RCV001173725] Chr8:133247930..133247931 [GRCh38]
Chr8:134260173..134260174 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.4(NDRG1):c.206-17T>G single nucleotide variant Charcot-Marie-Tooth disease [RCV001173728] Chr8:133262184 [GRCh38]
Chr8:134274427 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.4(NDRG1):c.1081C>G (p.Arg361Gly) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173710] Chr8:133238982 [GRCh38]
Chr8:134251225 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.895G>A (p.Ala299Thr) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173709] Chr8:133242071 [GRCh38]
Chr8:134254314 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.965G>T (p.Arg322Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001048646] Chr8:133239098 [GRCh38]
Chr8:134251341 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.874C>A (p.Leu292Ile) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001279782]|Charcot-Marie-Tooth disease, type 4D [RCV001164017]|not specified [RCV001002752] Chr8:133244372 [GRCh38]
Chr8:134256615 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_006096.4(NDRG1):c.*1179G>C single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV001163622] Chr8:133237699 [GRCh38]
Chr8:134249942 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.73G>T (p.Gly25Cys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001203774] Chr8:133280258 [GRCh38]
Chr8:134292501 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.1087C>T (p.Arg363Cys) single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV001162007] Chr8:133238976 [GRCh38]
Chr8:134251219 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.217T>C (p.Tyr73His) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001039260] Chr8:133262156 [GRCh38]
Chr8:134274399 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.766C>T (p.Leu256=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174343]|Charcot-Marie-Tooth disease type 4 [RCV001279783] Chr8:133247916 [GRCh38]
Chr8:134260159 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_006096.4(NDRG1):c.699-16C>G single nucleotide variant Charcot-Marie-Tooth disease [RCV001174339] Chr8:133248787 [GRCh38]
Chr8:134261030 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.4(NDRG1):c.-18-2_-18-1del deletion Charcot-Marie-Tooth disease [RCV001174341] Chr8:133284330..133284331 [GRCh38]
Chr8:134296573..134296574 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.4(NDRG1):c.1178_1180del (p.Ser393del) deletion Charcot-Marie-Tooth disease type 4 [RCV001215251] Chr8:133238883..133238885 [GRCh38]
Chr8:134251126..134251128 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.742A>G (p.Thr248Ala) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001207269] Chr8:133248728 [GRCh38]
Chr8:134260971 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.595-2A>T single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001040768] Chr8:133250545 [GRCh38]
Chr8:134262788 [GRCh37]
Chr8:8q24.22
likely pathogenic
NM_006096.4(NDRG1):c.109A>T (p.Ile37Phe) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001248286] Chr8:133264643 [GRCh38]
Chr8:134276886 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.10G>A (p.Glu4Lys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001216743] Chr8:133284302 [GRCh38]
Chr8:134296545 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.1057C>T (p.Arg353Cys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001207123] Chr8:133239006 [GRCh38]
Chr8:134251249 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.635G>A (p.Arg212His) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173715] Chr8:133250503 [GRCh38]
Chr8:134262746 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.*525G>A single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV001159005] Chr8:133238353 [GRCh38]
Chr8:134250596 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.*403G>A single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV001159006] Chr8:133238475 [GRCh38]
Chr8:134250718 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.*377G>A single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV001159008] Chr8:133238501 [GRCh38]
Chr8:134250744 [GRCh37]
Chr8:8q24.22
likely benign
NM_006096.4(NDRG1):c.634C>T (p.Arg212Cys) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173717]|Charcot-Marie-Tooth disease type 4 [RCV001246999]|Charcot-Marie-Tooth disease, type 4D [RCV001159105] Chr8:133250504 [GRCh38]
Chr8:134262747 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.643A>G (p.Ile215Val) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001064766] Chr8:133250495 [GRCh38]
Chr8:134262738 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.456C>G (p.Asn152Lys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001054994] Chr8:133256858 [GRCh38]
Chr8:134269101 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.*48C>A single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV001160348] Chr8:133238830 [GRCh38]
Chr8:134251073 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.802G>T (p.Ala268Ser) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001203536] Chr8:133247880 [GRCh38]
Chr8:134260123 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.604C>T (p.Gln202Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001048631] Chr8:133250534 [GRCh38]
Chr8:134262777 [GRCh37]
Chr8:8q24.22
pathogenic
NM_006096.4(NDRG1):c.176T>C (p.Ile59Thr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001228619] Chr8:133264576 [GRCh38]
Chr8:134276819 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.731C>T (p.Pro244Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001303438] Chr8:133248739 [GRCh38]
Chr8:134260982 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.583C>T (p.Leu195Phe) single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV001287725] Chr8:133254550 [GRCh38]
Chr8:134266793 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.855+4C>G single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001341685] Chr8:133246612 [GRCh38]
Chr8:134258855 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.1171G>A (p.Glu391Lys) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001316548] Chr8:133238892 [GRCh38]
Chr8:134251135 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.537+18C>T single nucleotide variant Charcot-Marie-Tooth disease, type 4D [RCV001335378] Chr8:133256759 [GRCh38]
Chr8:134269002 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.947C>G (p.Pro316Arg) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001350225] Chr8:133239116 [GRCh38]
Chr8:134251359 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.1076G>A (p.Gly359Asp) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001346333] Chr8:133238987 [GRCh38]
Chr8:134251230 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.1133C>T (p.Ser378Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001320004] Chr8:133238930 [GRCh38]
Chr8:134251173 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.584T>A (p.Leu195His) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001321773] Chr8:133254549 [GRCh38]
Chr8:134266792 [GRCh37]
Chr8:8q24.22
uncertain significance
NC_000008.10:g.(?_134251111)_(134296564_?)dup duplication Charcot-Marie-Tooth disease type 4 [RCV001300579] Chr8:134251111..134296564 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.328T>C (p.Tyr110His) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001302169] Chr8:133259229 [GRCh38]
Chr8:134271472 [GRCh37]
Chr8:8q24.22
uncertain significance
NC_000008.10:g.(?_134266772)_(134276905_?)del deletion Charcot-Marie-Tooth disease type 4 [RCV001344354] Chr8:134266772..134276905 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.468G>A (p.Met156Ile) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001337236] Chr8:133256846 [GRCh38]
Chr8:134269089 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.410T>C (p.Met137Thr) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001296082] Chr8:133258406 [GRCh38]
Chr8:134270649 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.538-5T>A single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001318211] Chr8:133254600 [GRCh38]
Chr8:134266843 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.591G>A (p.Gly197=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001278101] Chr8:133254542 [GRCh38]
Chr8:134266785 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_006096.4(NDRG1):c.141G>A (p.Thr47=) single nucleotide variant Charcot-Marie-Tooth disease type 4 [RCV001278103] Chr8:133264611 [GRCh38]
Chr8:134276854 [GRCh37]
Chr8:8q24.22
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7679 AgrOrtholog
COSMIC NDRG1 COSMIC
Ensembl Genes ENSG00000104419 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000319977 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000404854 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000427894 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428345 UniProtKB/TrEMBL
  ENSP00000428384 UniProtKB/TrEMBL
  ENSP00000428802 UniProtKB/TrEMBL
  ENSP00000428991 UniProtKB/TrEMBL
  ENSP00000429007 UniProtKB/TrEMBL
  ENSP00000429172 UniProtKB/TrEMBL
  ENSP00000429272 UniProtKB/TrEMBL
  ENSP00000429380 UniProtKB/TrEMBL
  ENSP00000429524 UniProtKB/TrEMBL
  ENSP00000429840 UniProtKB/TrEMBL
  ENSP00000429994 UniProtKB/TrEMBL
  ENSP00000430171 UniProtKB/TrEMBL
  ENSP00000431057 UniProtKB/TrEMBL
  ENSP00000437443 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000501584 UniProtKB/TrEMBL
  ENSP00000501604 UniProtKB/TrEMBL
  ENSP00000501624 UniProtKB/TrEMBL
  ENSP00000501631 UniProtKB/TrEMBL
  ENSP00000501650 UniProtKB/TrEMBL
  ENSP00000501657 UniProtKB/TrEMBL
  ENSP00000501738 UniProtKB/TrEMBL
  ENSP00000501764 UniProtKB/TrEMBL
  ENSP00000501905 UniProtKB/TrEMBL
  ENSP00000501949 UniProtKB/TrEMBL
  ENSP00000502209 UniProtKB/TrEMBL
  ENSP00000502226 UniProtKB/TrEMBL
  ENSP00000502297 UniProtKB/TrEMBL
  ENSP00000502656 UniProtKB/TrEMBL
  ENSP00000502695 UniProtKB/TrEMBL
  ENSP00000502800 UniProtKB/TrEMBL
Ensembl Transcript ENST00000323851 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000414097 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000517599 UniProtKB/TrEMBL
  ENST00000518066 UniProtKB/TrEMBL
  ENST00000518176 UniProtKB/TrEMBL
  ENST00000518480 UniProtKB/TrEMBL
  ENST00000519228 UniProtKB/TrEMBL
  ENST00000519580 UniProtKB/TrEMBL
  ENST00000520230 UniProtKB/TrEMBL
  ENST00000520943 UniProtKB/TrEMBL
  ENST00000521544 UniProtKB/TrEMBL
  ENST00000522377 UniProtKB/TrEMBL
  ENST00000522476 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000522738 UniProtKB/TrEMBL
  ENST00000522890 UniProtKB/TrEMBL
  ENST00000523892 UniProtKB/TrEMBL
  ENST00000537882 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000674521 UniProtKB/TrEMBL
  ENST00000674605 UniProtKB/TrEMBL
  ENST00000674804 UniProtKB/TrEMBL
  ENST00000674839 UniProtKB/TrEMBL
  ENST00000674902 UniProtKB/TrEMBL
  ENST00000674925 UniProtKB/TrEMBL
  ENST00000675068 UniProtKB/TrEMBL
  ENST00000675172 UniProtKB/TrEMBL
  ENST00000675357 UniProtKB/TrEMBL
  ENST00000675568 UniProtKB/TrEMBL
  ENST00000675600 UniProtKB/TrEMBL
  ENST00000675983 UniProtKB/TrEMBL
  ENST00000676005 UniProtKB/TrEMBL
  ENST00000676064 UniProtKB/TrEMBL
  ENST00000676222 UniProtKB/TrEMBL