MME (membrane metalloendopeptidase) - Rat Genome Database

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Gene: MME (membrane metalloendopeptidase) Homo sapiens
Analyze
Symbol: MME
Name: membrane metalloendopeptidase
RGD ID: 737353
HGNC Page HGNC
Description: Enables several functions, including peptidase activity; phospholipid binding activity; and protein homodimerization activity. Involved in several processes, including amyloid-beta clearance by cellular catabolic process; cellular response to UV; and neuropeptide processing. Located in several cellular components, including brush border; early endosome; and trans-Golgi network. Implicated in Alzheimer's disease; Charcot-Marie-Tooth disease axonal type 2T; cerebellar ataxia type 43; cerebral amyloid angiopathy; and membranous glomerulonephritis. Biomarker of cerebral amyloid angiopathy and periodontitis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: atriopeptidase; CALLA; CD10; CMT2T; common acute lymphocytic leukemia antigen; DKFZp686O16152; enkephalinase; membrane metallo endopeptidase; membrane metallo-endopeptidase; membrane metallo-endopeptidase (neutral endopeptidase, enkephalinase); membrane metallo-endopeptidase (neutral endopeptidase, enkephalinase, CALLA, CD10); membrane metallo-endopeptidase variant 1; membrane metallo-endopeptidase variant 2; MGC126681; MGC126707; NEP; neprilysin; neprilysin-390; neprilysin-411; neutral endopeptidase 24.11; SCA43; SFE; skin fibroblast elastase
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
GRCh383155,024,202 - 155,183,729 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl3155,024,124 - 155,183,704 (+)EnsemblGRCh38hg38GRCh38
GRCh373154,741,991 - 154,901,518 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363156,280,130 - 156,384,212 (+)NCBINCBI36hg18NCBI36
Build 343156,280,756 - 156,384,194NCBI
Celera3153,217,556 - 153,321,523 (+)NCBI
Cytogenetic Map3q25.2NCBI
HuRef3152,191,860 - 152,295,862 (+)NCBIHuRef
CHM1_13154,760,481 - 154,864,540 (+)NCBICHM1_1
T2T-CHM13v2.03157,798,155 - 157,957,709 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
8-Br-cAMP  (EXP)
acrolein  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
agmatine  (ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
aristolochic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (ISO)
Benoxacor  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
beta-naphthoflavone  (ISO)
bicalutamide  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
candoxatrilat  (EXP)
carbon nanotube  (ISO)
ceftriaxone  (ISO)
chlordecone  (ISO)
cisplatin  (ISO)
clothianidin  (ISO)
cobalt dichloride  (EXP)
cocaine  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
crocidolite asbestos  (ISO)
curcumin  (EXP)
cyclosporin A  (EXP)
D-glucose  (ISO)
DDT  (ISO)
dextran sulfate  (ISO)
diclofenac  (ISO)
dioxygen  (EXP,ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (ISO)
endosulfan  (ISO)
enilconazole  (ISO)
entinostat  (EXP)
estrogen  (ISO)
ethanol  (ISO)
fipronil  (ISO)
fisetin  (ISO)
flavonoids  (ISO)
folic acid  (EXP)
fulvestrant  (EXP)
gentamycin  (ISO)
glucose  (ISO)
hydralazine  (EXP)
L-ascorbic acid  (ISO)
lead(0)  (EXP,ISO)
lead(2+)  (EXP,ISO)
lipopolysaccharide  (ISO)
melatonin  (ISO)
mercury atom  (EXP)
mercury(0)  (EXP)
metformin  (ISO)
methapyrilene  (EXP)
mitomycin C  (EXP)
morphine  (ISO)
N-nitrosodiethylamine  (ISO)
naloxone  (ISO)
Naltrindole  (ISO)
niclosamide  (EXP)
nicotine  (EXP)
ochratoxin A  (ISO)
omapatrilat  (EXP)
oxaliplatin  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (EXP)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
phorbol 13-acetate 12-myristate  (EXP)
phosphoramidon  (ISO)
pioglitazone  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
potassium dichromate  (EXP)
pravastatin  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP,ISO)
propiconazole  (ISO)
resveratrol  (EXP)
S-nitroso-N-acetyl-D-penicillamine  (ISO)
SB 431542  (EXP)
selenium atom  (ISO)
silicon dioxide  (EXP,ISO)
sodium arsenate  (EXP)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
streptozocin  (ISO)
sulforaphane  (ISO)
tamoxifen  (ISO)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thalidomide  (ISO)
thiacloprid  (ISO)
thioacetamide  (ISO)
Thiorphan  (EXP,ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
trimellitic anhydride  (ISO)
triphenyl phosphate  (ISO)
Triptolide  (ISO)
troglitazone  (ISO)
valproic acid  (EXP)
vincaleukoblastine  (EXP)
XL147  (ISO)
zaragozic acid A  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
1. Back SA and Gorenstein C, J Comp Neurol. 1994 Feb 8;340(2):149-60. doi: 10.1002/cne.903400202.
2. Blomqvist ME, etal., Int J Mol Epidemiol Genet. 2010 Oct 15;1(1):47-52.
3. Carpenter TC and Stenmark KR, Am J Physiol Lung Cell Mol Physiol. 2001 Oct;281(4):L941-8. doi: 10.1152/ajplung.2001.281.4.L941.
4. Debiec H, etal., Lancet. 2004 Oct 2-8;364(9441):1252-9.
5. Devi L and Ohno M, Mol Brain. 2015 Mar 25;8:19. doi: 10.1186/s13041-015-0110-5.
6. Dragovic T, etal., Lab Invest. 1994 Jan;70(1):107-13.
7. El-Sayed NS and Bayan Y, Adv Exp Med Biol. 2015;822:107-18. doi: 10.1007/978-3-319-08927-0_12.
8. Fukami S, etal., Neurosci Res. 2002 May;43(1):39-56.
9. GOA_HUMAN data from the GO Consortium
10. Huang J, etal., Neurosci Lett. 2004 Aug 26;367(1):85-7.
11. Knecht M, etal., Life Sci. 2002 Oct 25;71(23):2701-12.
12. Krohn M, etal., Brain. 2015 Aug;138(Pt 8):2370-82. doi: 10.1093/brain/awv137. Epub 2015 May 18.
13. Leckie BJ Curr Med Chem Cardiovasc Hematol Agents. 2005 Jan;3(1):23-32.
14. Lilius L, etal., Neurosci Lett. 2003 Feb 6;337(2):111-3.
15. Liu CX, etal., Curr Neurovasc Res. 2017;14(2):90-95. doi: 10.2174/1567202614666170313110301.
16. Marçais-Collado H, etal., Eur J Pharmacol. 1987 Dec 1;144(2):125-32.
17. Miners JS, etal., Brain Pathol. 2011 Sep;21(5):594-605. doi: 10.1111/j.1750-3639.2011.00486.x. Epub 2011 Apr 3.
18. Miners JS, etal., J Neuropathol Exp Neurol. 2006 Oct;65(10):1012-21.
19. Miners JS, etal., J Neuropathol Exp Neurol. 2009 Aug;68(8):902-14. doi: 10.1097/NEN.0b013e3181afe475.
20. Miners S, etal., Int J Mol Epidemiol Genet. 2012;3(1):30-8. Epub 2012 Feb 5.
21. Moreau ME, etal., J Pharmacol Sci. 2005 Sep;99(1):6-38.
22. Nezu A, etal., Arch Oral Biol. 2017 Jul;79:35-41. doi: 10.1016/j.archoralbio.2017.03.003. Epub 2017 Mar 6.
23. Oda M, etal., Neurosci Lett. 2002 Mar 1;320(1-2):105-7.
24. Pham D, etal., J Cardiovasc Pharmacol. 2000 Nov;36(5 Suppl 1):S362-6.
25. Pipeline to import KEGG annotations from KEGG into RGD
26. Pu Q, etal., J Hypertens. 2002 May;20(5):899-907.
27. Reudelhuber TL Hypertension. 2006 May;47(5):811-5. Epub 2006 Mar 6.
28. RGD automated import pipeline for gene-chemical interactions
29. Schmid C, etal., Regul Pept. 2005 Aug 15;130(1-2):57-66.
30. Shi J, etal., J Gerontol A Biol Sci Med Sci. 2005 Mar;60(3):301-6.
31. Wood LS, etal., Neurosci Lett. 2007 Nov 5;427(2):103-6. doi: 10.1016/j.neulet.2007.09.019. Epub 2007 Sep 20.
32. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
33. Yuan HF, etal., Zhong Xi Yi Jie He Xue Bao. 2010 Feb;8(2):152-7.
Additional References at PubMed
PMID:1660144   PMID:2201681   PMID:2417254   PMID:2521237   PMID:2521388   PMID:2528730   PMID:2531377   PMID:2612455   PMID:2736261   PMID:2968607   PMID:2971756   PMID:2972276  
PMID:2984462   PMID:2994530   PMID:3157879   PMID:3162217   PMID:6208535   PMID:7532408   PMID:8003005   PMID:8168535   PMID:8631021   PMID:8687431   PMID:8943850   PMID:9232196  
PMID:9247159   PMID:9313778   PMID:9659899   PMID:9857225   PMID:10669592   PMID:11104793   PMID:11140838   PMID:11170145   PMID:11367540   PMID:11906289   PMID:12070597   PMID:12087466  
PMID:12102663   PMID:12105192   PMID:12140380   PMID:12150966   PMID:12203213   PMID:12387451   PMID:12393702   PMID:12447961   PMID:12477932   PMID:12485446   PMID:12529960   PMID:12657655  
PMID:12754344   PMID:12754519   PMID:12785004   PMID:14550292   PMID:14673956   PMID:14739539   PMID:14747736   PMID:14749127   PMID:14749444   PMID:14767532   PMID:14968440   PMID:15047060  
PMID:15100223   PMID:15205682   PMID:15217945   PMID:15283675   PMID:15286660   PMID:15294904   PMID:15469471   PMID:15489334   PMID:15502805   PMID:15548496   PMID:15578072   PMID:15668537  
PMID:15720419   PMID:15785408   PMID:15870909   PMID:15945081   PMID:16123216   PMID:16226260   PMID:16344560   PMID:16400325   PMID:16652149   PMID:16700740   PMID:16722930   PMID:16857799  
PMID:16877296   PMID:16900210   PMID:16900384   PMID:16940054   PMID:16943769   PMID:16948517   PMID:16984256   PMID:17101991   PMID:17207277   PMID:17220478   PMID:17294442   PMID:17296585  
PMID:17335564   PMID:17342744   PMID:17363457   PMID:17591969   PMID:17662271   PMID:17712175   PMID:17845760   PMID:17876294   PMID:17885484   PMID:17906676   PMID:17953966   PMID:18042078  
PMID:18092952   PMID:18182043   PMID:18292286   PMID:18370954   PMID:18393807   PMID:18518902   PMID:18539150   PMID:18545147   PMID:18602473   PMID:18605079   PMID:18619643   PMID:18806483  
PMID:19019493   PMID:19047112   PMID:19056867   PMID:19057576   PMID:19127446   PMID:19152193   PMID:19196432   PMID:19250583   PMID:19287335   PMID:19288202   PMID:19326964   PMID:19437324  
PMID:19448593   PMID:19515046   PMID:19575892   PMID:19656156   PMID:19661328   PMID:19752720   PMID:19787248   PMID:19816087   PMID:19817893   PMID:19864659   PMID:19897485   PMID:19925052  
PMID:19948975   PMID:19961253   PMID:20014550   PMID:20051779   PMID:20051780   PMID:20061637   PMID:20079015   PMID:20105452   PMID:20175824   PMID:20184665   PMID:20204382   PMID:20301317  
PMID:20301462   PMID:20301532   PMID:20376800   PMID:20390424   PMID:20459800   PMID:20468064   PMID:20506111   PMID:20546336   PMID:20574156   PMID:20663017   PMID:20685603   PMID:20711432  
PMID:20716621   PMID:20856894   PMID:20858953   PMID:20876573   PMID:20886092   PMID:20947507   PMID:20957047   PMID:21052031   PMID:21076839   PMID:21225496   PMID:21315759   PMID:21365649  
PMID:21423176   PMID:21425402   PMID:21499231   PMID:21515054   PMID:21585282   PMID:21609487   PMID:21651905   PMID:21666788   PMID:21677537   PMID:21681600   PMID:21775056   PMID:21804528  
PMID:21835428   PMID:21873635   PMID:21877416   PMID:21883368   PMID:21988858   PMID:21989348   PMID:22006372   PMID:22014058   PMID:22024547   PMID:22183801   PMID:22257901   PMID:22261707  
PMID:22272689   PMID:22286396   PMID:22300665   PMID:22371247   PMID:22384224   PMID:22410801   PMID:22417750   PMID:22464152   PMID:22492182   PMID:22572771   PMID:22767595   PMID:22880404  
PMID:22898766   PMID:22994707   PMID:23063927   PMID:23065018   PMID:23138928   PMID:23219141   PMID:23289620   PMID:23333304   PMID:23339695   PMID:23348903   PMID:23356903   PMID:23360525  
PMID:23376485   PMID:23509938   PMID:23533145   PMID:23566254   PMID:23575921   PMID:23653392   PMID:23686701   PMID:23752268   PMID:23827863   PMID:23838604   PMID:23857215   PMID:23863409  
PMID:23867815   PMID:24040464   PMID:24099862   PMID:24460801   PMID:24603459   PMID:24754336   PMID:24825898   PMID:24848988   PMID:24874475   PMID:24895167   PMID:24972738   PMID:25125048  
PMID:25279712   PMID:25282623   PMID:25308002   PMID:25452160   PMID:25608772   PMID:25713420   PMID:25733581   PMID:25759539   PMID:25921112   PMID:26124315   PMID:26141216   PMID:26362309  
PMID:26414904   PMID:26562027   PMID:26573127   PMID:26609034   PMID:26830028   PMID:26846903   PMID:26881775   PMID:26991897   PMID:27039776   PMID:27096746   PMID:27342126   PMID:27513891  
PMID:27588448   PMID:27616053   PMID:27641335   PMID:28514442   PMID:28553432   PMID:28611215   PMID:28628241   PMID:29056123   PMID:29196110   PMID:29306324   PMID:29323711   PMID:29330223  
PMID:29339171   PMID:29367254   PMID:29509190   PMID:29561187   PMID:29653092   PMID:29791034   PMID:29854824   PMID:30097533   PMID:30249887   PMID:30251808   PMID:30415211   PMID:30711939  
PMID:30796257   PMID:30828920   PMID:31054987   PMID:31189595   PMID:31266021   PMID:31383639   PMID:31514225   PMID:31536960   PMID:31586073   PMID:31816181   PMID:32012940   PMID:32070494  
PMID:32272124   PMID:32364682   PMID:32427034   PMID:32545905   PMID:32592351   PMID:32762650   PMID:32814053   PMID:32814769   PMID:32967374   PMID:32987038   PMID:33131987   PMID:33144514  
PMID:33244333   PMID:33314757   PMID:33342805   PMID:33393317   PMID:33406387   PMID:33444077   PMID:33541392   PMID:33608777   PMID:33961781   PMID:34341253   PMID:34502327   PMID:34505762  
PMID:34507663   PMID:34528537   PMID:34654055   PMID:34689374   PMID:34831146   PMID:34844098   PMID:34958060   PMID:35034907   PMID:35202745   PMID:35212467  


Genomics

Comparative Map Data
MME
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383155,024,202 - 155,183,729 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl3155,024,124 - 155,183,704 (+)EnsemblGRCh38hg38GRCh38
GRCh373154,741,991 - 154,901,518 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363156,280,130 - 156,384,212 (+)NCBINCBI36hg18NCBI36
Build 343156,280,756 - 156,384,194NCBI
Celera3153,217,556 - 153,321,523 (+)NCBI
Cytogenetic Map3q25.2NCBI
HuRef3152,191,860 - 152,295,862 (+)NCBIHuRef
CHM1_13154,760,481 - 154,864,540 (+)NCBICHM1_1
T2T-CHM13v2.03157,798,155 - 157,957,709 (+)NCBI
Mme
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39363,202,632 - 63,291,134 (+)NCBIGRCm39mm39
GRCm39 Ensembl363,148,958 - 63,293,451 (+)Ensembl
GRCm38363,295,211 - 63,383,713 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl363,241,537 - 63,386,030 (+)EnsemblGRCm38mm10GRCm38
MGSCv37363,099,794 - 63,186,153 (+)NCBIGRCm37mm9NCBIm37
MGSCv36363,383,801 - 63,470,160 (+)NCBImm8
Celera362,969,256 - 63,055,608 (+)NCBICelera
Cytogenetic Map3E1NCBI
cM Map329.97NCBI
Mme
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22147,686,913 - 147,803,808 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl2147,722,086 - 147,803,792 (+)Ensembl
Rnor_6.02153,799,203 - 153,880,910 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2153,803,349 - 153,880,738 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02173,193,501 - 173,278,946 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42153,031,724 - 153,114,515 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12152,981,686 - 153,064,477 (+)NCBI
Celera2142,009,686 - 142,090,693 (+)NCBICelera
RH 3.4 Map2955.0RGD
Cytogenetic Map2q31NCBI
Mme
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554486,226,059 - 6,314,949 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554486,193,113 - 6,311,666 (+)NCBIChiLan1.0ChiLan1.0
MME
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.13159,637,965 - 160,292,119 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3160,197,566 - 160,292,119 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v03152,085,694 - 152,240,148 (+)NCBIMhudiblu_PPA_v0panPan3
MME
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12348,966,222 - 49,059,919 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2348,971,066 - 49,059,919 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2348,843,474 - 48,934,858 (+)NCBI
ROS_Cfam_1.02349,596,559 - 49,692,908 (+)NCBI
ROS_Cfam_1.0 Ensembl2349,593,076 - 49,694,136 (+)Ensembl
UMICH_Zoey_3.12349,187,708 - 49,279,020 (+)NCBI
UNSW_CanFamBas_1.02349,238,095 - 49,328,993 (+)NCBI
UU_Cfam_GSD_1.02349,521,230 - 49,612,145 (+)NCBI
Mme
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560287,138,054 - 87,220,087 (-)NCBI
SpeTri2.0NW_0049365192,513,896 - 2,595,896 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MME
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1395,019,081 - 95,126,045 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11395,018,395 - 95,122,977 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213103,025,551 - 103,128,284 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MME
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11535,577,460 - 35,681,730 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1535,580,714 - 35,633,914 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660418,227,922 - 8,338,216 (-)NCBIVero_WHO_p1.0
Mme
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473032,601,488 - 32,689,080 (+)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_00462473032,601,835 - 32,691,368 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
SHGC-81275  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373154,822,857 - 154,823,144UniSTSGRCh37
Build 363156,305,551 - 156,305,838RGDNCBI36
Celera3153,242,976 - 153,243,263RGD
Cytogenetic Map3q25.2UniSTS
HuRef3152,217,216 - 152,217,503UniSTS
TNG Radiation Hybrid Map387953.0UniSTS
G62078  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373154,901,144 - 154,901,288UniSTSGRCh37
Build 363156,383,838 - 156,383,982RGDNCBI36
Celera3153,321,149 - 153,321,293RGD
Cytogenetic Map3q25.2UniSTS
HuRef3152,295,488 - 152,295,632UniSTS
GDB:181217  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373154,898,339 - 154,898,643UniSTSGRCh37
Build 363156,381,033 - 156,381,337RGDNCBI36
Celera3153,318,344 - 153,318,648RGD
Cytogenetic Map3q25.2UniSTS
HuRef3152,292,683 - 152,292,987UniSTS
SHGC-110011  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373154,874,553 - 154,874,894UniSTSGRCh37
Build 363156,357,247 - 156,357,588RGDNCBI36
Celera3153,294,556 - 153,294,897RGD
Cytogenetic Map3q25.2UniSTS
HuRef3152,268,895 - 152,269,236UniSTS
TNG Radiation Hybrid Map387934.0UniSTS
SHGC-146123  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373154,900,842 - 154,901,191UniSTSGRCh37
Build 363156,383,536 - 156,383,885RGDNCBI36
Celera3153,320,847 - 153,321,196RGD
Cytogenetic Map3q25.2UniSTS
HuRef3152,295,186 - 152,295,535UniSTS
TNG Radiation Hybrid Map387921.0UniSTS
SHGC-173666  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373154,813,280 - 154,813,594UniSTSGRCh37
Build 363156,295,974 - 156,296,288RGDNCBI36
Celera3153,233,399 - 153,233,713RGD
Cytogenetic Map3q25.2UniSTS
HuRef3152,207,705 - 152,208,019UniSTS
TNG Radiation Hybrid Map387966.0UniSTS
MME_1383  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373154,900,810 - 154,901,611UniSTSGRCh37
Build 363156,383,504 - 156,384,305RGDNCBI36
Celera3153,320,815 - 153,321,616RGD
HuRef3152,295,154 - 152,295,955UniSTS
SHGC-35301  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373154,898,250 - 154,898,456UniSTSGRCh37
Build 363156,380,944 - 156,381,150RGDNCBI36
Celera3153,318,255 - 153,318,461RGD
Cytogenetic Map3q25.2UniSTS
HuRef3152,292,594 - 152,292,800UniSTS
Stanford-G3 RH Map37027.0UniSTS
NCBI RH Map31377.1UniSTS
GeneMap99-G3 RH Map37497.0UniSTS
RH1499  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373154,898,297 - 154,898,409UniSTSGRCh37
Build 363156,380,991 - 156,381,103RGDNCBI36
Celera3153,318,302 - 153,318,414RGD
Cytogenetic Map3q25.2UniSTS
HuRef3152,292,641 - 152,292,753UniSTS
GeneMap99-GB4 RH Map3570.74UniSTS
NCBI RH Map31346.3UniSTS
SHGC-77474  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373154,899,169 - 154,899,309UniSTSGRCh37
Build 363156,381,863 - 156,382,003RGDNCBI36
Celera3153,319,174 - 153,319,314RGD
Cytogenetic Map3q25.2UniSTS
HuRef3152,293,513 - 152,293,653UniSTS
TNG Radiation Hybrid Map387921.0UniSTS
GeneMap99-GB4 RH Map3570.74UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3169
Count of miRNA genes:1135
Interacting mature miRNAs:1426
Transcripts:ENST00000360490, ENST00000382989, ENST00000460393, ENST00000462745, ENST00000462837, ENST00000473730, ENST00000477669, ENST00000481828, ENST00000491026, ENST00000491597, ENST00000492661, ENST00000493237, ENST00000493888, ENST00000495577, ENST00000497890
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High 2
Medium 215 580 114 100 795 95 1554 293 740 248 357 546 10 860 822 3
Low 1244 1512 1044 444 604 291 2291 1636 850 125 895 847 157 343 1572 3
Below cutoff 937 892 545 63 112 63 503 244 2095 40 183 174 3 1 1 394

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_051105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC106724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC117384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC106070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM151602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP418894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA574242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB142029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU326307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J03779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC143287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC143288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L08103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X07166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X79438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y00811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000360490   ⟹   ENSP00000353679
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3155,080,319 - 155,183,704 (+)Ensembl
RefSeq Acc Id: ENST00000382989   ⟹   ENSP00000372450
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3155,080,021 - 155,090,500 (+)Ensembl
RefSeq Acc Id: ENST00000460393   ⟹   ENSP00000418525
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3155,079,672 - 155,183,704 (+)Ensembl
RefSeq Acc Id: ENST00000462745   ⟹   ENSP00000419653
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3155,080,094 - 155,181,584 (+)Ensembl
RefSeq Acc Id: ENST00000462837   ⟹   ENSP00000417595
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3155,083,944 - 155,116,708 (+)Ensembl
RefSeq Acc Id: ENST00000473730   ⟹   ENSP00000420542
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3155,081,344 - 155,180,459 (+)Ensembl
RefSeq Acc Id: ENST00000477669
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3155,112,294 - 155,115,147 (+)Ensembl
RefSeq Acc Id: ENST00000481828   ⟹   ENSP00000420101
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3155,079,856 - 155,118,791 (+)Ensembl
RefSeq Acc Id: ENST00000491026   ⟹   ENSP00000418791
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3155,080,964 - 155,180,459 (+)Ensembl
RefSeq Acc Id: ENST00000491597
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3155,079,647 - 155,085,729 (+)Ensembl
RefSeq Acc Id: ENST00000492661   ⟹   ENSP00000420389
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3155,024,124 - 155,180,849 (+)Ensembl
RefSeq Acc Id: ENST00000493237   ⟹   ENSP00000417079
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3155,080,111 - 155,180,628 (+)Ensembl
RefSeq Acc Id: ENST00000493888
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3155,172,104 - 155,180,738 (+)Ensembl
RefSeq Acc Id: ENST00000495577
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3155,160,390 - 155,168,883 (+)Ensembl
RefSeq Acc Id: ENST00000497890   ⟹   ENSP00000418238
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3155,083,525 - 155,084,213 (+)Ensembl
RefSeq Acc Id: ENST00000615825   ⟹   ENSP00000478173
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3155,079,856 - 155,183,704 (+)Ensembl
RefSeq Acc Id: ENST00000616757   ⟹   ENSP00000480349
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3155,080,021 - 155,090,499 (+)Ensembl
RefSeq Acc Id: ENST00000625667   ⟹   ENSP00000485791
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3155,079,647 - 155,089,880 (+)Ensembl
RefSeq Acc Id: ENST00000675418   ⟹   ENSP00000502021
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3155,079,932 - 155,183,678 (+)Ensembl
RefSeq Acc Id: ENST00000679362
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3155,085,056 - 155,148,861 (+)Ensembl
RefSeq Acc Id: ENST00000680057   ⟹   ENSP00000505211
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3155,083,525 - 155,183,704 (+)Ensembl
RefSeq Acc Id: ENST00000680282   ⟹   ENSP00000505690
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3155,083,944 - 155,183,704 (+)Ensembl
RefSeq Acc Id: NM_000902   ⟹   NP_000893
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383155,079,672 - 155,183,704 (+)NCBI
GRCh373154,797,436 - 154,901,518 (+)ENTREZGENE
Build 363156,280,130 - 156,384,212 (+)NCBI Archive
HuRef3152,191,860 - 152,295,862 (+)ENTREZGENE
CHM1_13154,760,481 - 154,864,540 (+)NCBI
T2T-CHM13v2.03157,853,632 - 157,957,684 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354642   ⟹   NP_001341571
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383155,024,202 - 155,183,704 (+)NCBI
T2T-CHM13v2.03157,798,155 - 157,957,684 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354643   ⟹   NP_001341572
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383155,080,011 - 155,183,729 (+)NCBI
T2T-CHM13v2.03157,853,971 - 157,957,709 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354644   ⟹   NP_001341573
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383155,080,011 - 155,090,500 (+)NCBI
T2T-CHM13v2.03157,853,971 - 157,864,458 (+)NCBI
Sequence:
RefSeq Acc Id: NM_007287   ⟹   NP_009218
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383155,079,870 - 155,183,704 (+)NCBI
GRCh373154,797,436 - 154,901,518 (+)ENTREZGENE
Build 363156,280,399 - 156,384,212 (+)NCBI Archive
HuRef3152,191,860 - 152,295,862 (+)ENTREZGENE
CHM1_13154,760,750 - 154,864,540 (+)NCBI
T2T-CHM13v2.03157,853,830 - 157,957,684 (+)NCBI
Sequence:
RefSeq Acc Id: NM_007288   ⟹   NP_009219
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383155,080,011 - 155,183,729 (+)NCBI
GRCh373154,797,436 - 154,901,518 (+)ENTREZGENE
Build 363156,280,647 - 156,384,212 (+)NCBI Archive
HuRef3152,191,860 - 152,295,862 (+)ENTREZGENE
CHM1_13154,760,998 - 154,864,540 (+)NCBI
T2T-CHM13v2.03157,853,971 - 157,957,709 (+)NCBI
Sequence:
RefSeq Acc Id: NM_007289   ⟹   NP_009220
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383155,080,319 - 155,183,704 (+)NCBI
GRCh373154,797,436 - 154,901,518 (+)ENTREZGENE
Build 363156,280,773 - 156,384,212 (+)NCBI Archive
HuRef3152,191,860 - 152,295,862 (+)ENTREZGENE
CHM1_13154,761,124 - 154,864,540 (+)NCBI
T2T-CHM13v2.03157,854,279 - 157,957,684 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006713647   ⟹   XP_006713710
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383155,080,319 - 155,183,729 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011512856   ⟹   XP_011511158
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383155,083,762 - 155,183,729 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011512857   ⟹   XP_011511159
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383155,083,762 - 155,183,729 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047448157   ⟹   XP_047304113
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383155,080,000 - 155,183,729 (+)NCBI
Protein Sequences
Protein RefSeqs NP_000893 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341571 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341572 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341573 (Get FASTA)   NCBI Sequence Viewer  
  NP_009218 (Get FASTA)   NCBI Sequence Viewer  
  NP_009219 (Get FASTA)   NCBI Sequence Viewer  
  NP_009220 (Get FASTA)   NCBI Sequence Viewer  
  XP_006713710 (Get FASTA)   NCBI Sequence Viewer  
  XP_011511158 (Get FASTA)   NCBI Sequence Viewer  
  XP_011511159 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304113 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA51915 (Get FASTA)   NCBI Sequence Viewer  
  AAI01633 (Get FASTA)   NCBI Sequence Viewer  
  AAI01659 (Get FASTA)   NCBI Sequence Viewer  
  AAI06071 (Get FASTA)   NCBI Sequence Viewer  
  AAI43466 (Get FASTA)   NCBI Sequence Viewer  
  ACA05913 (Get FASTA)   NCBI Sequence Viewer  
  ACA05914 (Get FASTA)   NCBI Sequence Viewer  
  AGE12493 (Get FASTA)   NCBI Sequence Viewer  
  AGE12494 (Get FASTA)   NCBI Sequence Viewer  
  BAF84450 (Get FASTA)   NCBI Sequence Viewer  
  CAA30157 (Get FASTA)   NCBI Sequence Viewer  
  CAA68752 (Get FASTA)   NCBI Sequence Viewer  
  CCQ42996 (Get FASTA)   NCBI Sequence Viewer  
  EAW78753 (Get FASTA)   NCBI Sequence Viewer  
  EAW78754 (Get FASTA)   NCBI Sequence Viewer  
  EAW78755 (Get FASTA)   NCBI Sequence Viewer  
  EAW78756 (Get FASTA)   NCBI Sequence Viewer  
  EAW78757 (Get FASTA)   NCBI Sequence Viewer  
  EAW78758 (Get FASTA)   NCBI Sequence Viewer  
  P08473 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000893   ⟸   NM_000902
- Peptide Label: isoform a
- UniProtKB: P08473 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_009218   ⟸   NM_007287
- Peptide Label: isoform a
- UniProtKB: P08473 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_009219   ⟸   NM_007288
- Peptide Label: isoform a
- UniProtKB: P08473 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_009220   ⟸   NM_007289
- Peptide Label: isoform a
- UniProtKB: P08473 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006713710   ⟸   XM_006713647
- Peptide Label: isoform X1
- UniProtKB: P08473 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011511158   ⟸   XM_011512856
- Peptide Label: isoform X1
- UniProtKB: P08473 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011511159   ⟸   XM_011512857
- Peptide Label: isoform X1
- UniProtKB: P08473 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001341571   ⟸   NM_001354642
- Peptide Label: isoform a
- Sequence:
RefSeq Acc Id: NP_001341572   ⟸   NM_001354643
- Peptide Label: isoform a
- Sequence:
RefSeq Acc Id: NP_001341573   ⟸   NM_001354644
- Peptide Label: isoform b
- Sequence:
RefSeq Acc Id: ENSP00000417595   ⟸   ENST00000462837
RefSeq Acc Id: ENSP00000419653   ⟸   ENST00000462745
RefSeq Acc Id: ENSP00000418791   ⟸   ENST00000491026
RefSeq Acc Id: ENSP00000353679   ⟸   ENST00000360490
RefSeq Acc Id: ENSP00000420389   ⟸   ENST00000492661
RefSeq Acc Id: ENSP00000417079   ⟸   ENST00000493237
RefSeq Acc Id: ENSP00000485791   ⟸   ENST00000625667
RefSeq Acc Id: ENSP00000420101   ⟸   ENST00000481828
RefSeq Acc Id: ENSP00000478173   ⟸   ENST00000615825
RefSeq Acc Id: ENSP00000418238   ⟸   ENST00000497890
RefSeq Acc Id: ENSP00000480349   ⟸   ENST00000616757
RefSeq Acc Id: ENSP00000420542   ⟸   ENST00000473730
RefSeq Acc Id: ENSP00000418525   ⟸   ENST00000460393
RefSeq Acc Id: ENSP00000372450   ⟸   ENST00000382989
RefSeq Acc Id: ENSP00000502021   ⟸   ENST00000675418
RefSeq Acc Id: ENSP00000505690   ⟸   ENST00000680282
RefSeq Acc Id: ENSP00000505211   ⟸   ENST00000680057
RefSeq Acc Id: XP_047304113   ⟸   XM_047448157
- Peptide Label: isoform X1
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P08473-F1-model_v2 AlphaFold P08473 1-750 view protein structure
Nep pdb 1r1h P08473 52-750 view protein structure

Promoters
RGD ID:6866050
Promoter ID:EPDNEW_H6190
Type:initiation region
Name:MME_3
Description:membrane metalloendopeptidase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6191  EPDNEW_H6192  EPDNEW_H6193  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383155,079,683 - 155,079,743EPDNEW
RGD ID:6866052
Promoter ID:EPDNEW_H6191
Type:initiation region
Name:MME_2
Description:membrane metalloendopeptidase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6190  EPDNEW_H6192  EPDNEW_H6193  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383155,079,925 - 155,079,985EPDNEW
RGD ID:6866054
Promoter ID:EPDNEW_H6192
Type:initiation region
Name:MME_4
Description:membrane metalloendopeptidase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6190  EPDNEW_H6191  EPDNEW_H6193  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383155,080,094 - 155,080,154EPDNEW
RGD ID:6866056
Promoter ID:EPDNEW_H6193
Type:initiation region
Name:MME_1
Description:membrane metalloendopeptidase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6190  EPDNEW_H6191  EPDNEW_H6192  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383155,080,319 - 155,080,379EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_007289.4(MME):c.1515T>G (p.Asp505Glu) single nucleotide variant not provided [RCV000521726] Chr3:155148567 [GRCh38]
Chr3:154866356 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1781-2A>G single nucleotide variant not provided [RCV000520604] Chr3:155168490 [GRCh38]
Chr3:154886279 [GRCh37]
Chr3:3q25.2
pathogenic|likely pathogenic
GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3 copy number gain See cases [RCV000051724] Chr3:147442566..178522531 [GRCh38]
Chr3:147160353..178240319 [GRCh37]
Chr3:148643043..179723013 [NCBI36]
Chr3:3q24-26.32
pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29
pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29
pathogenic
GRCh38/hg38 3q25.2(chr3:154843789-155242564)x1 copy number loss See cases [RCV000053995] Chr3:154843789..155242564 [GRCh38]
Chr3:154561578..154960353 [GRCh37]
Chr3:156044272..156443047 [NCBI36]
Chr3:3q25.2
uncertain significance
GRCh38/hg38 3q25.2-25.31(chr3:154870557-155444826)x1 copy number loss See cases [RCV000053996] Chr3:154870557..155444826 [GRCh38]
Chr3:154588346..155162615 [GRCh37]
Chr3:156071040..156645309 [NCBI36]
Chr3:3q25.2-25.31
uncertain significance
NM_000902.3(MME):c.466delC (p.Pro156Leufs) deletion Charcot-Marie-Tooth disease, axonal, type 2T [RCV000255813] Chr3:155116690 [GRCh38]
Chr3:154834479 [GRCh37]
Chr3:3q25.2
risk factor
NM_007289.4(MME):c.71G>A (p.Trp24Ter) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2T [RCV000254899] Chr3:155084238 [GRCh38]
Chr3:154802027 [GRCh37]
Chr3:3q25.2
risk factor
NM_007289.4(MME):c.1265C>A (p.Ala422Asp) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2T [RCV000255510] Chr3:155143519 [GRCh38]
Chr3:154861308 [GRCh37]
Chr3:3q25.2
risk factor
NM_007289.4(MME):c.654+1G>A single nucleotide variant Charcot-Marie-Tooth disease axonal type 2T [RCV000234889] Chr3:155116987 [GRCh38]
Chr3:154834776 [GRCh37]
Chr3:3q25.2
pathogenic
NM_007289.4(MME):c.439+2T>A single nucleotide variant Charcot-Marie-Tooth disease axonal type 2T [RCV000234893] Chr3:155116561 [GRCh38]
Chr3:154834350 [GRCh37]
Chr3:3q25.2
pathogenic|likely pathogenic
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q25.2(chr3:154817795-155269377)x1 copy number loss See cases [RCV000136923] Chr3:154817795..155269377 [GRCh38]
Chr3:154535584..154987166 [GRCh37]
Chr3:156018278..156469860 [NCBI36]
Chr3:3q25.2
uncertain significance
GRCh38/hg38 3q25.2(chr3:154358336-155102453)x1 copy number loss See cases [RCV000137754] Chr3:154358336..155102453 [GRCh38]
Chr3:154076125..154820242 [GRCh37]
Chr3:155558819..156302936 [NCBI36]
Chr3:3q25.2
likely benign
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29
pathogenic
GRCh38/hg38 3q25.1-25.2(chr3:151429416-155118646)x1 copy number loss See cases [RCV000141813] Chr3:151429416..155118646 [GRCh38]
Chr3:151147204..154836435 [GRCh37]
Chr3:152629894..156319129 [NCBI36]
Chr3:3q25.1-25.2
likely pathogenic
NM_007289.4(MME):c.1861T>C (p.Cys621Arg) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2T [RCV000234863]|Peripheral neuropathy [RCV001814126] Chr3:155168572 [GRCh38]
Chr3:154886361 [GRCh37]
Chr3:3q25.2
pathogenic|likely pathogenic
NM_007289.4(MME):c.661C>T (p.Gln221Ter) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2T [RCV000234916] Chr3:155118752 [GRCh38]
Chr3:154836541 [GRCh37]
Chr3:3q25.2
pathogenic
NM_007289.4(MME):c.655-2A>G single nucleotide variant Charcot-Marie-Tooth disease axonal type 2T [RCV000234912]|not provided [RCV001782734] Chr3:155118744 [GRCh38]
Chr3:154836533 [GRCh37]
Chr3:3q25.2
pathogenic
NM_007289.4(MME):c.428G>A (p.Cys143Tyr) single nucleotide variant Spinocerebellar ataxia 43 [RCV000239627] Chr3:155116548 [GRCh38]
Chr3:154834337 [GRCh37]
Chr3:3q25.2
pathogenic
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29
pathogenic
NM_007289.4(MME):c.-10-1G>T single nucleotide variant not provided [RCV000489119] Chr3:155084157 [GRCh38]
Chr3:154801946 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.2154-13G>A single nucleotide variant not provided [RCV001565767] Chr3:155180347 [GRCh38]
Chr3:154898136 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1771G>A (p.Asp591Asn) single nucleotide variant not provided [RCV000489687] Chr3:155167012 [GRCh38]
Chr3:154884801 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1946T>C (p.Ile649Thr) single nucleotide variant not provided [RCV000489719] Chr3:155168763 [GRCh38]
Chr3:154886552 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.877C>T (p.Arg293Ter) single nucleotide variant not provided [RCV000523684] Chr3:155140212 [GRCh38]
Chr3:154858001 [GRCh37]
Chr3:3q25.2
pathogenic|likely pathogenic
NM_007289.4(MME):c.467del (p.Pro156fs) deletion Charcot-Marie-Tooth disease axonal type 2T [RCV000255813]|Spinocerebellar ataxia 43 [RCV001196532]|not provided [RCV000489776] Chr3:155116690 [GRCh38]
Chr3:154834479 [GRCh37]
Chr3:3q25.2
pathogenic|likely pathogenic|risk factor
NM_007289.4(MME):c.1580G>A (p.Arg527Gln) single nucleotide variant not provided [RCV000584870] Chr3:155148632 [GRCh38]
Chr3:154866421 [GRCh37]
Chr3:3q25.2
uncertain significance
GRCh37/hg19 3q25.2(chr3:154862154-154987107)x1 copy number loss See cases [RCV000446332] Chr3:154862154..154987107 [GRCh37]
Chr3:3q25.2
likely benign
GRCh37/hg19 3q24-26.2(chr3:147180945-168415875)x1 copy number loss See cases [RCV000448130] Chr3:147180945..168415875 [GRCh37]
Chr3:3q24-26.2
pathogenic
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29
pathogenic
NM_007289.4(MME):c.1272del (p.Arg425fs) deletion Charcot-Marie-Tooth disease axonal type 2T [RCV000454474]|not provided [RCV001821217] Chr3:155143523 [GRCh38]
Chr3:154861312 [GRCh37]
Chr3:3q25.2
likely pathogenic|uncertain significance
NM_007289.4(MME):c.1904G>A (p.Gly635Asp) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2T [RCV000455118] Chr3:155168615 [GRCh38]
Chr3:154886404 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1564C>T (p.Gln522Ter) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2T [RCV001290399]|not provided [RCV000498717] Chr3:155148616 [GRCh38]
Chr3:154866405 [GRCh37]
Chr3:3q25.2
pathogenic
NM_007289.4(MME):c.440-2A>C single nucleotide variant not provided [RCV000497353] Chr3:155116662 [GRCh38]
Chr3:154834451 [GRCh37]
Chr3:3q25.2
pathogenic|likely pathogenic
NM_007289.4(MME):c.1497+1G>C single nucleotide variant not provided [RCV000497869] Chr3:155147225 [GRCh38]
Chr3:154865014 [GRCh37]
Chr3:3q25.2
likely pathogenic
NM_007289.4(MME):c.1342C>T (p.Arg448Ter) single nucleotide variant Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization [RCV000614012]|Spinocerebellar ataxia 43 [RCV001196533]|not provided [RCV001783108] Chr3:155144383 [GRCh38]
Chr3:154862172 [GRCh37]
Chr3:3q25.2
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_007289.4(MME):c.359-3C>T single nucleotide variant not specified [RCV000614232] Chr3:155116476 [GRCh38]
Chr3:154834265 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1033G>A (p.Val345Ile) single nucleotide variant not provided [RCV000585400] Chr3:155142066 [GRCh38]
Chr3:154859855 [GRCh37]
Chr3:3q25.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007289.4(MME):c.516A>T (p.Glu172Asp) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2T [RCV002221566]|Inborn genetic diseases [RCV000624676] Chr3:155116740 [GRCh38]
Chr3:154834529 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1946T>G (p.Ile649Ser) single nucleotide variant Spinocerebellar ataxia 43 [RCV001198005]|not provided [RCV000658980] Chr3:155168763 [GRCh38]
Chr3:154886552 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.769C>A (p.Arg257Ser) single nucleotide variant Autosomal recessive axonal hereditary motor and sensory neuropathy [RCV000664251] Chr3:155138150 [GRCh38]
Chr3:154855939 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1602-294C>T single nucleotide variant not provided [RCV001575012] Chr3:155160096 [GRCh38]
Chr3:154877885 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.311A>G (p.Tyr104Cys) single nucleotide variant not provided [RCV001566975] Chr3:155115108 [GRCh38]
Chr3:154832897 [GRCh37]
Chr3:3q25.2
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_007289.4(MME):c.1666C>T (p.Pro556Ser) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2T [RCV000754741] Chr3:155166907 [GRCh38]
Chr3:154884696 [GRCh37]
Chr3:3q25.2
likely pathogenic
NM_007289.4(MME):c.1972G>A (p.Ala658Thr) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2T [RCV000754742] Chr3:155168789 [GRCh38]
Chr3:154886578 [GRCh37]
Chr3:3q25.2
likely pathogenic
GRCh37/hg19 3q25.2-25.31(chr3:154551924-155034166)x1 copy number loss not provided [RCV000742893] Chr3:154551924..155034166 [GRCh37]
Chr3:3q25.2-25.31
benign
GRCh37/hg19 3q25.2(chr3:154827008-154830469)x1 copy number loss not provided [RCV000742894] Chr3:154827008..154830469 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.1189-4G>A single nucleotide variant Peripheral neuropathy [RCV001541902]|not provided [RCV002071960] Chr3:155143439 [GRCh38]
Chr3:154861228 [GRCh37]
Chr3:3q25.2
conflicting interpretations of pathogenicity|uncertain significance
NM_007289.4(MME):c.2153+125dup duplication not provided [RCV001611253] Chr3:155172723..155172724 [GRCh38]
Chr3:154890512..154890513 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.1416+144T>A single nucleotide variant not provided [RCV001667731] Chr3:155144601 [GRCh38]
Chr3:154862390 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.1915-12C>G single nucleotide variant not provided [RCV001574501] Chr3:155168720 [GRCh38]
Chr3:154886509 [GRCh37]
Chr3:3q25.2
benign|likely benign
NM_007289.4(MME):c.1781-3T>C single nucleotide variant not provided [RCV001645619] Chr3:155168489 [GRCh38]
Chr3:154886278 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.160+2T>C single nucleotide variant not provided [RCV000762124] Chr3:155084329 [GRCh38]
Chr3:154802118 [GRCh37]
Chr3:3q25.2
likely pathogenic
NM_007289.4(MME):c.160+8A>G single nucleotide variant not provided [RCV000762125] Chr3:155084335 [GRCh38]
Chr3:154802124 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1579C>T (p.Arg527Ter) single nucleotide variant not provided [RCV000762126] Chr3:155148631 [GRCh38]
Chr3:154866420 [GRCh37]
Chr3:3q25.2
pathogenic|likely pathogenic
NM_007289.4(MME):c.1921G>A (p.Gly641Arg) single nucleotide variant not provided [RCV000762127] Chr3:155168738 [GRCh38]
Chr3:154886527 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.2072C>T (p.Ala691Val) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2T [RCV001002777] Chr3:155172208 [GRCh38]
Chr3:154889997 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.957+141_957+142dup duplication not provided [RCV001645854] Chr3:155140410..155140411 [GRCh38]
Chr3:154858199..154858200 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.*163G>C single nucleotide variant not provided [RCV001580951] Chr3:155180622 [GRCh38]
Chr3:154898411 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.439+32TA[12] microsatellite not provided [RCV001724475] Chr3:155116590..155116591 [GRCh38]
Chr3:154834379..154834380 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.2153+124_2153+125dup duplication not provided [RCV001548434] Chr3:155172723..155172724 [GRCh38]
Chr3:154890512..154890513 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.2133G>A (p.Val711=) single nucleotide variant not provided [RCV000879060] Chr3:155172592 [GRCh38]
Chr3:154890381 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.1950T>A (p.Ala650=) single nucleotide variant not provided [RCV000925986] Chr3:155168767 [GRCh38]
Chr3:154886556 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1191C>T (p.Ala397=) single nucleotide variant not provided [RCV000884485] Chr3:155143445 [GRCh38]
Chr3:154861234 [GRCh37]
Chr3:3q25.2
benign|likely benign
NM_007289.4(MME):c.900T>C (p.Tyr300=) single nucleotide variant not provided [RCV000976733] Chr3:155140235 [GRCh38]
Chr3:154858024 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.855+6A>T single nucleotide variant not provided [RCV000964842] Chr3:155138242 [GRCh38]
Chr3:154856031 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.495T>C (p.Tyr165=) single nucleotide variant not provided [RCV000940166] Chr3:155116719 [GRCh38]
Chr3:154834508 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.1251G>A (p.Gly417=) single nucleotide variant not provided [RCV000896801] Chr3:155143505 [GRCh38]
Chr3:154861294 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.1095-4A>G single nucleotide variant not provided [RCV000938128] Chr3:155142233 [GRCh38]
Chr3:154860022 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.161-9T>C single nucleotide variant not provided [RCV000915588] Chr3:155085050 [GRCh38]
Chr3:154802839 [GRCh37]
Chr3:3q25.2
benign
GRCh37/hg19 3q25.2(chr3:154768835-154815399)x1 copy number loss not provided [RCV000848952] Chr3:154768835..154815399 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1032G>T (p.Val344=) single nucleotide variant not provided [RCV000896800] Chr3:155142065 [GRCh38]
Chr3:154859854 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.1241A>G (p.Tyr414Cys) single nucleotide variant Early-onset dementia of unclear type [RCV001090111]|not provided [RCV001873446] Chr3:155143495 [GRCh38]
Chr3:154861284 [GRCh37]
Chr3:3q25.2
likely benign|uncertain significance
GRCh37/hg19 3q25.2(chr3:154580682-154815399)x1 copy number loss not provided [RCV000847532] Chr3:154580682..154815399 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1706A>C (p.Gln569Pro) single nucleotide variant Spinocerebellar ataxia 43 [RCV001253639]|not provided [RCV000998153] Chr3:155166947 [GRCh38]
Chr3:154884736 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1933C>A (p.Leu645Met) single nucleotide variant not provided [RCV001057666] Chr3:155168750 [GRCh38]
Chr3:154886539 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.674G>C (p.Gly225Ala) single nucleotide variant not provided [RCV000891593] Chr3:155118765 [GRCh38]
Chr3:154836554 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1040A>G (p.Tyr347Cys) single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV001374536]|Spinocerebellar ataxia 43 [RCV001198006]|not provided [RCV000998151] Chr3:155142073 [GRCh38]
Chr3:154859862 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.531del (p.Lys177fs) deletion Charcot-Marie-Tooth disease axonal type 2T [RCV001353159]|not provided [RCV001009319] Chr3:155116751 [GRCh38]
Chr3:154834540 [GRCh37]
Chr3:3q25.2
pathogenic
NM_007289.4(MME):c.436_439+1delinsC indel not provided [RCV001239732] Chr3:155116556..155116560 [GRCh38]
Chr3:154834345..154834349 [GRCh37]
Chr3:3q25.2
likely pathogenic
NM_007289.4(MME):c.1735G>A (p.Gly579Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001824932]|Spinocerebellar ataxia 43 [RCV001198856]|not provided [RCV001797160] Chr3:155166976 [GRCh38]
Chr3:154884765 [GRCh37]
Chr3:3q25.2
uncertain significance|not provided
NM_007289.4(MME):c.1945A>C (p.Ile649Leu) single nucleotide variant not provided [RCV000998154] Chr3:155168762 [GRCh38]
Chr3:154886551 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1400dup (p.Arg468fs) duplication Charcot-Marie-Tooth disease axonal type 2T [RCV001542567]|not provided [RCV001204527] Chr3:155144435..155144436 [GRCh38]
Chr3:154862224..154862225 [GRCh37]
Chr3:3q25.2
pathogenic
NM_007289.4(MME):c.2059T>A (p.Phe687Ile) single nucleotide variant not provided [RCV001091206] Chr3:155172195 [GRCh38]
Chr3:154889984 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.958-78C>A single nucleotide variant not provided [RCV001568671] Chr3:155141913 [GRCh38]
Chr3:154859702 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.2153+111C>T single nucleotide variant not provided [RCV001581412] Chr3:155172723 [GRCh38]
Chr3:154890512 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1660+36T>C single nucleotide variant not provided [RCV001566508] Chr3:155160484 [GRCh38]
Chr3:154878273 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.655-121T>C single nucleotide variant not provided [RCV001548118] Chr3:155118625 [GRCh38]
Chr3:154836414 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1189-324A>G single nucleotide variant not provided [RCV001673386] Chr3:155143119 [GRCh38]
Chr3:154860908 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.2050C>T (p.Gln684Ter) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2T [RCV001542568]|not provided [RCV001859360] Chr3:155172186 [GRCh38]
Chr3:154889975 [GRCh37]
Chr3:3q25.2
pathogenic|likely pathogenic
NM_007289.4(MME):c.160+13C>T single nucleotide variant not provided [RCV001550615] Chr3:155084340 [GRCh38]
Chr3:154802129 [GRCh37]
Chr3:3q25.2
benign|likely benign
NM_007289.4(MME):c.721-282T>C single nucleotide variant not provided [RCV001598867] Chr3:155137820 [GRCh38]
Chr3:154855609 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.957+142dup duplication not provided [RCV001638335] Chr3:155140410..155140411 [GRCh38]
Chr3:154858199..154858200 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.2076+36C>A single nucleotide variant not provided [RCV001651533] Chr3:155172248 [GRCh38]
Chr3:154890037 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.2154-22A>G single nucleotide variant not provided [RCV001674306] Chr3:155180338 [GRCh38]
Chr3:154898127 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.855+43C>T single nucleotide variant not provided [RCV001562155] Chr3:155138279 [GRCh38]
Chr3:154856068 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.196+133T>G single nucleotide variant not provided [RCV001592285] Chr3:155085227 [GRCh38]
Chr3:154803016 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.957+142del deletion not provided [RCV001620412] Chr3:155140411 [GRCh38]
Chr3:154858200 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.958-130C>G single nucleotide variant not provided [RCV001615966] Chr3:155141861 [GRCh38]
Chr3:154859650 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.1498-330C>T single nucleotide variant not provided [RCV001563147] Chr3:155148220 [GRCh38]
Chr3:154866009 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.957+141_957+142del deletion not provided [RCV001714176] Chr3:155140411..155140412 [GRCh38]
Chr3:154858200..154858201 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.161-11C>T single nucleotide variant not provided [RCV001566977] Chr3:155085048 [GRCh38]
Chr3:154802837 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.160+15C>T single nucleotide variant not provided [RCV001559706] Chr3:155084342 [GRCh38]
Chr3:154802131 [GRCh37]
Chr3:3q25.2
benign|likely benign
NM_007289.4(MME):c.2154-282G>T single nucleotide variant not provided [RCV001547783] Chr3:155180078 [GRCh38]
Chr3:154897867 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.197-4G>C single nucleotide variant not provided [RCV000911014] Chr3:155114990 [GRCh38]
Chr3:154832779 [GRCh37]
Chr3:3q25.2
benign|likely benign
NM_007289.4(MME):c.2053C>T (p.Leu685=) single nucleotide variant not provided [RCV000919801] Chr3:155172189 [GRCh38]
Chr3:154889978 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1944C>T (p.Asn648=) single nucleotide variant not provided [RCV000920427] Chr3:155168761 [GRCh38]
Chr3:154886550 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.294C>T (p.Pro98=) single nucleotide variant not provided [RCV000929325] Chr3:155115091 [GRCh38]
Chr3:154832880 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1094+5G>A single nucleotide variant not provided [RCV000998152] Chr3:155142132 [GRCh38]
Chr3:154859921 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.786G>A (p.Leu262=) single nucleotide variant not provided [RCV000889559] Chr3:155138167 [GRCh38]
Chr3:154855956 [GRCh37]
Chr3:3q25.2
benign|likely benign
NM_007289.4(MME):c.1047A>G (p.Pro349=) single nucleotide variant not provided [RCV000889560] Chr3:155142080 [GRCh38]
Chr3:154859869 [GRCh37]
Chr3:3q25.2
benign|likely benign
NM_007289.4(MME):c.1255A>C (p.Met419Leu) single nucleotide variant not provided [RCV000956148] Chr3:155143509 [GRCh38]
Chr3:154861298 [GRCh37]
Chr3:3q25.2
benign|likely benign
NM_007289.4(MME):c.1752C>T (p.His584=) single nucleotide variant not provided [RCV000934274] Chr3:155166993 [GRCh38]
Chr3:154884782 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.-10-312C>T single nucleotide variant not provided [RCV001569876] Chr3:155083846 [GRCh38]
Chr3:154801635 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1601+5G>A single nucleotide variant not provided [RCV001557145] Chr3:155148658 [GRCh38]
Chr3:154866447 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1660+278_1660+282del microsatellite not provided [RCV001557564] Chr3:155160718..155160722 [GRCh38]
Chr3:154878507..154878511 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.2153+234C>T single nucleotide variant not provided [RCV001552525] Chr3:155172846 [GRCh38]
Chr3:154890635 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.239G>A (p.Cys80Tyr) single nucleotide variant not provided [RCV001555717] Chr3:155115036 [GRCh38]
Chr3:154832825 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1417-186T>C single nucleotide variant not provided [RCV001550500] Chr3:155146958 [GRCh38]
Chr3:154864747 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.-10-17A>G single nucleotide variant not provided [RCV001556449] Chr3:155084141 [GRCh38]
Chr3:154801930 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.655-186G>A single nucleotide variant not provided [RCV001589363] Chr3:155118560 [GRCh38]
Chr3:154836349 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1602-86G>A single nucleotide variant not provided [RCV001538768] Chr3:155160304 [GRCh38]
Chr3:154878093 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.161-106T>G single nucleotide variant not provided [RCV001660986] Chr3:155084953 [GRCh38]
Chr3:154802742 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.655-153A>T single nucleotide variant not provided [RCV001652647] Chr3:155118593 [GRCh38]
Chr3:154836382 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.*167G>T single nucleotide variant not provided [RCV001675401] Chr3:155180626 [GRCh38]
Chr3:154898415 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.1601+103A>C single nucleotide variant not provided [RCV001686643] Chr3:155148756 [GRCh38]
Chr3:154866545 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.359-269dup duplication not provided [RCV001658510] Chr3:155116196..155116197 [GRCh38]
Chr3:154833985..154833986 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.197-15T>G single nucleotide variant not provided [RCV001637909] Chr3:155114979 [GRCh38]
Chr3:154832768 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.958-199G>A single nucleotide variant not provided [RCV001613732] Chr3:155141792 [GRCh38]
Chr3:154859581 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.-10-210A>G single nucleotide variant not provided [RCV001671010] Chr3:155083948 [GRCh38]
Chr3:154801737 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.957+77C>T single nucleotide variant not provided [RCV001678293] Chr3:155140369 [GRCh38]
Chr3:154858158 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.1601+11T>C single nucleotide variant not provided [RCV001693902] Chr3:155148664 [GRCh38]
Chr3:154866453 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.358+265TTTG[4] microsatellite not provided [RCV001620528] Chr3:155115420..155115423 [GRCh38]
Chr3:154833209..154833212 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.22A>G (p.Met8Val) single nucleotide variant not provided [RCV001598793] Chr3:155084189 [GRCh38]
Chr3:154801978 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.68G>A (p.Arg23Gln) single nucleotide variant not provided [RCV001592612] Chr3:155084235 [GRCh38]
Chr3:154802024 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.202C>T (p.Arg68Ter) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2T [RCV001255622]|not provided [RCV001056048] Chr3:155114999 [GRCh38]
Chr3:154832788 [GRCh37]
Chr3:3q25.2
pathogenic|likely pathogenic
NM_007289.4(MME):c.2067C>A (p.Asn689Lys) single nucleotide variant not provided [RCV001092434] Chr3:155172203 [GRCh38]
Chr3:154889992 [GRCh37]
Chr3:3q25.2
likely pathogenic|uncertain significance
NM_007289.4(MME):c.358+274T>C single nucleotide variant not provided [RCV001710609] Chr3:155115429 [GRCh38]
Chr3:154833218 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.680C>T (p.Pro227Leu) single nucleotide variant not provided [RCV001532013] Chr3:155118771 [GRCh38]
Chr3:154836560 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.197-104G>A single nucleotide variant not provided [RCV001589385] Chr3:155114890 [GRCh38]
Chr3:154832679 [GRCh37]
Chr3:3q25.2
likely benign
GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3 copy number gain See cases [RCV001194586] Chr3:138145289..162275610 [GRCh37]
Chr3:3q22.3-26.1
pathogenic
NM_007289.4(MME):c.196+37T>C single nucleotide variant not provided [RCV001649860] Chr3:155085131 [GRCh38]
Chr3:154802920 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.439+32TA[9] microsatellite not provided [RCV001685859] Chr3:155116590..155116591 [GRCh38]
Chr3:154834379..154834380 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.856-83C>T single nucleotide variant not provided [RCV001679909] Chr3:155140108 [GRCh38]
Chr3:154857897 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.358+84_358+90del deletion not provided [RCV001609231] Chr3:155115239..155115245 [GRCh38]
Chr3:154833028..154833034 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.720+130T>C single nucleotide variant not provided [RCV001584744] Chr3:155118941 [GRCh38]
Chr3:154836730 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.*159C>T single nucleotide variant not provided [RCV001696357] Chr3:155180618 [GRCh38]
Chr3:154898407 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.2154G>T (p.Arg718Ser) single nucleotide variant Spinocerebellar ataxia 43 [RCV001647168] Chr3:155180360 [GRCh38]
Chr3:154898149 [GRCh37]
Chr3:3q25.2
pathogenic
NM_007289.4(MME):c.2153+129A>C single nucleotide variant not provided [RCV001641674] Chr3:155172741 [GRCh38]
Chr3:154890530 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.359-269del deletion not provided [RCV001648422] Chr3:155116197 [GRCh38]
Chr3:154833986 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.1602-20del deletion not provided [RCV001643278] Chr3:155160370 [GRCh38]
Chr3:154878159 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.-10-115G>A single nucleotide variant not provided [RCV001690731] Chr3:155084043 [GRCh38]
Chr3:154801832 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.1780+309T>C single nucleotide variant not provided [RCV001610865] Chr3:155167330 [GRCh38]
Chr3:154885119 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.1574A>C (p.Lys525Thr) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2T [RCV001248810] Chr3:155148626 [GRCh38]
Chr3:154866415 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.594dup (p.Val199fs) duplication Spinocerebellar ataxia 43 [RCV001196760]|not provided [RCV001876277] Chr3:155116920..155116921 [GRCh38]
Chr3:154834709..154834710 [GRCh37]
Chr3:3q25.2
pathogenic
NM_007289.4(MME):c.307C>T (p.Arg103Cys) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2T [RCV001262743]|not provided [RCV001701310] Chr3:155115104 [GRCh38]
Chr3:154832893 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.2153+110_2153+111insT insertion not provided [RCV001813848] Chr3:155172722..155172723 [GRCh38]
Chr3:154890511..154890512 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.1745T>C (p.Ile582Thr) single nucleotide variant not provided [RCV001311629] Chr3:155166986 [GRCh38]
Chr3:154884775 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.439+32TA[13] microsatellite not provided [RCV001537276] Chr3:155116590..155116591 [GRCh38]
Chr3:154834379..154834380 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.2178del (p.Ala727fs) deletion not provided [RCV001268578] Chr3:155180384 [GRCh38]
Chr3:154898173 [GRCh37]
Chr3:3q25.2
likely pathogenic
NM_007289.4(MME):c.1827_1829dup (p.Gln610dup) duplication not provided [RCV001963913] Chr3:155168535..155168536 [GRCh38]
Chr3:154886324..154886325 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.160+1del deletion Charcot-Marie-Tooth disease, axonal, type 2T [RCV001335542] Chr3:155084327 [GRCh38]
Chr3:154802116 [GRCh37]
Chr3:3q25.2
pathogenic
GRCh37/hg19 3q25.2(chr3:154855891-154860119)x1 copy number loss not provided [RCV001310824] Chr3:154855891..154860119 [GRCh37]
Chr3:3q25.2
likely pathogenic
NM_007289.4(MME):c.1753G>A (p.Glu585Lys) single nucleotide variant not provided [RCV001311630] Chr3:155166994 [GRCh38]
Chr3:154884783 [GRCh37]
Chr3:3q25.2
likely pathogenic|uncertain significance
GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699) copy number gain Global developmental delay [RCV001352648] Chr3:138173683..162494699 [GRCh37]
Chr3:3q22.3-26.1
pathogenic
NM_007289.4(MME):c.1810G>A (p.Val604Ile) single nucleotide variant not provided [RCV001413592] Chr3:155168521 [GRCh38]
Chr3:154886310 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1048_1049del (p.Glu350fs) deletion not provided [RCV001387512] Chr3:155142080..155142081 [GRCh38]
Chr3:154859869..154859870 [GRCh37]
Chr3:3q25.2
pathogenic
GRCh37/hg19 3q25.2-25.31(chr3:154548410-155021779)x1 copy number loss not provided [RCV001535438] Chr3:154548410..155021779 [GRCh37]
Chr3:3q25.2-25.31
not provided
NM_007289.4(MME):c.881A>G (p.Asn294Ser) single nucleotide variant not provided [RCV001447550] Chr3:155140216 [GRCh38]
Chr3:154858005 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1189-280A>G single nucleotide variant not provided [RCV001583755] Chr3:155143163 [GRCh38]
Chr3:154860952 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.721-166_721-163del deletion not provided [RCV001609062] Chr3:155137934..155137937 [GRCh38]
Chr3:154855723..154855726 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.439+32TA[14] microsatellite not provided [RCV001698723] Chr3:155116590..155116591 [GRCh38]
Chr3:154834379..154834380 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.957+335C>T single nucleotide variant not provided [RCV001617906] Chr3:155140627 [GRCh38]
Chr3:154858416 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.2077-119G>A single nucleotide variant not provided [RCV001708434] Chr3:155172417 [GRCh38]
Chr3:154890206 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.957+200C>G single nucleotide variant not provided [RCV001590065] Chr3:155140492 [GRCh38]
Chr3:154858281 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.67C>T (p.Arg23Ter) single nucleotide variant not provided [RCV001380583] Chr3:155084234 [GRCh38]
Chr3:154802023 [GRCh37]
Chr3:3q25.2
pathogenic
NM_007289.4(MME):c.957+3A>G single nucleotide variant not provided [RCV001727273] Chr3:155140295 [GRCh38]
Chr3:154858084 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.958-4_958-3delinsG indel not provided [RCV001773386] Chr3:155141987..155141988 [GRCh38]
Chr3:154859776..154859777 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1864A>G (p.Met622Val) single nucleotide variant not provided [RCV001763230] Chr3:155168575 [GRCh38]
Chr3:154886364 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.445A>G (p.Ile149Val) single nucleotide variant not provided [RCV001767077] Chr3:155116669 [GRCh38]
Chr3:154834458 [GRCh37]
Chr3:3q25.2
conflicting interpretations of pathogenicity|uncertain significance
NM_007289.4(MME):c.1445A>C (p.Tyr482Ser) single nucleotide variant not provided [RCV001767178] Chr3:155147172 [GRCh38]
Chr3:154864961 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.47C>A (p.Pro16Gln) single nucleotide variant not provided [RCV001773879] Chr3:155084214 [GRCh38]
Chr3:154802003 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1499T>C (p.Leu500Ser) single nucleotide variant not provided [RCV001765577] Chr3:155148551 [GRCh38]
Chr3:154866340 [GRCh37]
Chr3:3q25.2
uncertain significance
GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3 copy number gain Brachycephaly [RCV001801182] Chr3:142729607..157921084 [GRCh37]
Chr3:3q23-25.32
pathogenic
NM_007289.4(MME):c.716_717del (p.Lys239fs) deletion Charcot-Marie-Tooth disease axonal type 2T [RCV001787309] Chr3:155118806..155118807 [GRCh38]
Chr3:154836595..154836596 [GRCh37]
Chr3:3q25.2
likely pathogenic
NM_007289.4(MME):c.1687C>G (p.Pro563Ala) single nucleotide variant not provided [RCV001752852] Chr3:155166928 [GRCh38]
Chr3:154884717 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.2087G>A (p.Gly696Glu) single nucleotide variant not provided [RCV001754353] Chr3:155172546 [GRCh38]
Chr3:154890335 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.860C>T (p.Thr287Met) single nucleotide variant not provided [RCV001773969] Chr3:155140195 [GRCh38]
Chr3:154857984 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.695A>G (p.Tyr232Cys) single nucleotide variant not provided [RCV001800048] Chr3:155118786 [GRCh38]
Chr3:154836575 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1914+1G>A single nucleotide variant not provided [RCV001764767] Chr3:155168626 [GRCh38]
Chr3:154886415 [GRCh37]
Chr3:3q25.2
conflicting interpretations of pathogenicity|uncertain significance
NM_007289.4(MME):c.2233A>G (p.Lys745Glu) single nucleotide variant not provided [RCV001765299] Chr3:155180439 [GRCh38]
Chr3:154898228 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.2228C>G (p.Pro743Arg) single nucleotide variant not provided [RCV001770734] Chr3:155180434 [GRCh38]
Chr3:154898223 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1313_1314del (p.His438fs) deletion not provided [RCV001816371] Chr3:155143567..155143568 [GRCh38]
Chr3:154861356..154861357 [GRCh37]
Chr3:3q25.2
pathogenic
NM_007289.4(MME):c.2222T>C (p.Met741Thr) single nucleotide variant not provided [RCV001758514] Chr3:155180428 [GRCh38]
Chr3:154898217 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1742T>A (p.Val581Asp) single nucleotide variant not provided [RCV001763324] Chr3:155166983 [GRCh38]
Chr3:154884772 [GRCh37]
Chr3:3q25.2
uncertain significance
GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1 copy number loss not provided [RCV001795847] Chr3:143439359..165252122 [GRCh37]
Chr3:3q24-26.1
pathogenic
NM_007289.4(MME):c.920A>G (p.Gln307Arg) single nucleotide variant not provided [RCV001758251] Chr3:155140255 [GRCh38]
Chr3:154858044 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1705C>A (p.Gln569Lys) single nucleotide variant not provided [RCV001760603] Chr3:155166946 [GRCh38]
Chr3:154884735 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.499T>A (p.Trp167Arg) single nucleotide variant Peripheral neuropathy [RCV001814524] Chr3:155116723 [GRCh38]
Chr3:154834512 [GRCh37]
Chr3:3q25.2
likely pathogenic
NM_007289.4(MME):c.358G>A (p.Asp120Asn) single nucleotide variant not provided [RCV001815927] Chr3:155115155 [GRCh38]
Chr3:154832944 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.280C>T (p.Arg94Cys) single nucleotide variant not provided [RCV001816370] Chr3:155115077 [GRCh38]
Chr3:154832866 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.854A>G (p.Asn285Ser) single nucleotide variant not provided [RCV002025700] Chr3:155138235 [GRCh38]
Chr3:154856024 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1441G>A (p.Gly481Ser) single nucleotide variant not provided [RCV002023952] Chr3:155147168 [GRCh38]
Chr3:154864957 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1282G>T (p.Val428Leu) single nucleotide variant not provided [RCV002045780] Chr3:155143536 [GRCh38]
Chr3:154861325 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1095-2A>C single nucleotide variant Spinocerebellar ataxia 43 [RCV001849202] Chr3:155142235 [GRCh38]
Chr3:154860024 [GRCh37]
Chr3:3q25.2
likely pathogenic
NM_007289.4(MME):c.131C>A (p.Thr44Lys) single nucleotide variant not provided [RCV002025227] Chr3:155084298 [GRCh38]
Chr3:154802087 [GRCh37]
Chr3:3q25.2
uncertain significance
NC_000003.11:g.(?_154801957)_(155551394_?)dup duplication not provided [RCV001896818] Chr3:154801957..155551394 [GRCh37]
Chr3:3q25.2-25.31
uncertain significance
NM_007289.4(MME):c.917C>T (p.Ala306Val) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2T [RCV001823554] Chr3:155140252 [GRCh38]
Chr3:154858041 [GRCh37]
Chr3:3q25.2
uncertain significance
NC_000003.11:g.(?_154801957)_(154802903_?)del deletion not provided [RCV001949578] Chr3:154801957..154802903 [GRCh37]
Chr3:3q25.2
pathogenic
NM_007289.4(MME):c.2207G>T (p.Arg736Leu) single nucleotide variant not provided [RCV002044929] Chr3:155180413 [GRCh38]
Chr3:154898202 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.226A>G (p.Thr76Ala) single nucleotide variant not provided [RCV001929969] Chr3:155115023 [GRCh38]
Chr3:154832812 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.713A>C (p.Tyr238Ser) single nucleotide variant not provided [RCV002045699] Chr3:155118804 [GRCh38]
Chr3:154836593 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.25G>C (p.Asp9His) single nucleotide variant not provided [RCV001893117] Chr3:155084192 [GRCh38]
Chr3:154801981 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1385A>C (p.Asp462Ala) single nucleotide variant not provided [RCV002024841] Chr3:155144426 [GRCh38]
Chr3:154862215 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.38T>C (p.Ile13Thr) single nucleotide variant not provided [RCV002024018] Chr3:155084205 [GRCh38]
Chr3:154801994 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1867G>A (p.Val623Met) single nucleotide variant not provided [RCV002045361] Chr3:155168578 [GRCh38]
Chr3:154886367 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1123T>C (p.Phe375Leu) single nucleotide variant not provided [RCV002040825] Chr3:155142265 [GRCh38]
Chr3:154860054 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1589T>G (p.Val530Gly) single nucleotide variant not provided [RCV001889394] Chr3:155148641 [GRCh38]
Chr3:154866430 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1883A>G (p.Asn628Ser) single nucleotide variant not provided [RCV001914744] Chr3:155168594 [GRCh38]
Chr3:154886383 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.2161G>A (p.Gly721Arg) single nucleotide variant not provided [RCV001874096] Chr3:155180367 [GRCh38]
Chr3:154898156 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.264C>A (p.Cys88Ter) single nucleotide variant not provided [RCV001890480] Chr3:155115061 [GRCh38]
Chr3:154832850 [GRCh37]
Chr3:3q25.2
pathogenic
NM_007289.4(MME):c.56A>G (p.Lys19Arg) single nucleotide variant not provided [RCV001971635] Chr3:155084223 [GRCh38]
Chr3:154802012 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.66G>C (p.Gln22His) single nucleotide variant not provided [RCV001863668] Chr3:155084233 [GRCh38]
Chr3:154802022 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.281G>A (p.Arg94His) single nucleotide variant not provided [RCV001968209] Chr3:155115078 [GRCh38]
Chr3:154832867 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.2238del (p.Lys746fs) deletion not provided [RCV002003737] Chr3:155180444 [GRCh38]
Chr3:154898233 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.224C>G (p.Ala75Gly) single nucleotide variant not provided [RCV001985784] Chr3:155115021 [GRCh38]
Chr3:154832810 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1154G>A (p.Arg385Gln) single nucleotide variant Charcot-Marie-Tooth disease axonal type 2T [RCV001823555] Chr3:155142296 [GRCh38]
Chr3:154860085 [GRCh37]
Chr3:3q25.2
uncertain significance
GRCh37/hg19 3q24-25.33(chr3:145486960-160504834) copy number gain not specified [RCV002053375] Chr3:145486960..160504834 [GRCh37]
Chr3:3q24-25.33
pathogenic
NM_007289.4(MME):c.390A>G (p.Ile130Met) single nucleotide variant not provided [RCV001926585] Chr3:155116510 [GRCh38]
Chr3:154834299 [GRCh37]
Chr3:3q25.2
uncertain significance
GRCh37/hg19 3q25.1-25.2(chr3:151147204-154845718) copy number loss not specified [RCV002053377] Chr3:151147204..154845718 [GRCh37]
Chr3:3q25.1-25.2
uncertain significance
NM_007289.4(MME):c.347T>G (p.Val116Gly) single nucleotide variant not provided [RCV002002003] Chr3:155115144 [GRCh38]
Chr3:154832933 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.139G>A (p.Ala47Thr) single nucleotide variant not provided [RCV002040674] Chr3:155084306 [GRCh38]
Chr3:154802095 [GRCh37]
Chr3:3q25.2
uncertain significance
NC_000003.11:g.(?_154832763)_(154836620_?)del deletion not provided [RCV001946841] Chr3:154832763..154836620 [GRCh37]
Chr3:3q25.2
pathogenic
NM_007289.4(MME):c.602T>C (p.Ile201Thr) single nucleotide variant not provided [RCV001947307] Chr3:155116934 [GRCh38]
Chr3:154834723 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1700C>A (p.Ala567Asp) single nucleotide variant not provided [RCV002040931] Chr3:155166941 [GRCh38]
Chr3:154884730 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1439_1442del (p.Ile480fs) deletion not provided [RCV001912223] Chr3:155147166..155147169 [GRCh38]
Chr3:154864955..154864958 [GRCh37]
Chr3:3q25.2
pathogenic
NM_007289.4(MME):c.1184G>A (p.Arg395His) single nucleotide variant not provided [RCV001847377] Chr3:155142326 [GRCh38]
Chr3:154860115 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.612_615del (p.Phe204fs) microsatellite not provided [RCV001871513] Chr3:155116938..155116941 [GRCh38]
Chr3:154834727..154834730 [GRCh37]
Chr3:3q25.2
pathogenic
NM_007289.4(MME):c.157G>A (p.Asp53Asn) single nucleotide variant not provided [RCV002022948] Chr3:155084324 [GRCh38]
Chr3:154802113 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.779A>G (p.Glu260Gly) single nucleotide variant not provided [RCV001913928] Chr3:155138160 [GRCh38]
Chr3:154855949 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1780+3A>G single nucleotide variant not provided [RCV002022260] Chr3:155167024 [GRCh38]
Chr3:154884813 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1502_1503insTG (p.Tyr502fs) insertion not provided [RCV001926418] Chr3:155148554..155148555 [GRCh38]
Chr3:154866343..154866344 [GRCh37]
Chr3:3q25.2
pathogenic
NM_007289.4(MME):c.1958G>A (p.Gly653Glu) single nucleotide variant not provided [RCV002024078] Chr3:155168775 [GRCh38]
Chr3:154886564 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1498-3C>G single nucleotide variant not provided [RCV001863414] Chr3:155148547 [GRCh38]
Chr3:154866336 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.958-2A>G single nucleotide variant not provided [RCV002005809] Chr3:155141989 [GRCh38]
Chr3:154859778 [GRCh37]
Chr3:3q25.2
likely pathogenic
NM_007289.4(MME):c.1730G>T (p.Gly577Val) single nucleotide variant not provided [RCV002023136] Chr3:155166971 [GRCh38]
Chr3:154884760 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1862G>A (p.Cys621Tyr) single nucleotide variant not provided [RCV002021372] Chr3:155168573 [GRCh38]
Chr3:154886362 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.834A>T (p.Glu278Asp) single nucleotide variant not provided [RCV001912771] Chr3:155138215 [GRCh38]
Chr3:154856004 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.155A>G (p.Tyr52Cys) single nucleotide variant not provided [RCV001872116] Chr3:155084322 [GRCh38]
Chr3:154802111 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.25G>A (p.Asp9Asn) single nucleotide variant not provided [RCV001964272] Chr3:155084192 [GRCh38]
Chr3:154801981 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1495G>A (p.Glu499Lys) single nucleotide variant not provided [RCV001891919] Chr3:155147222 [GRCh38]
Chr3:154865011 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.97G>A (p.Val33Ile) single nucleotide variant not provided [RCV001908796] Chr3:155084264 [GRCh38]
Chr3:154802053 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1238del (p.Asn413fs) deletion not provided [RCV001970039] Chr3:155143490 [GRCh38]
Chr3:154861279 [GRCh37]
Chr3:3q25.2
pathogenic
NM_007289.4(MME):c.958-3C>G single nucleotide variant not provided [RCV002023955] Chr3:155141988 [GRCh38]
Chr3:154859777 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.359-40G>C single nucleotide variant not provided [RCV001837147] Chr3:155116439 [GRCh38]
Chr3:154834228 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.450T>G (p.Asp150Glu) single nucleotide variant not provided [RCV001892490] Chr3:155116674 [GRCh38]
Chr3:154834463 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1417-18A>G single nucleotide variant not provided [RCV001945756] Chr3:155147126 [GRCh38]
Chr3:154864915 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.346G>A (p.Val116Ile) single nucleotide variant not provided [RCV002005664] Chr3:155115143 [GRCh38]
Chr3:154832932 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1094+4G>A single nucleotide variant not provided [RCV001907863] Chr3:155142131 [GRCh38]
Chr3:154859920 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.887C>A (p.Pro296Gln) single nucleotide variant not provided [RCV002002639] Chr3:155140222 [GRCh38]
Chr3:154858011 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1997T>C (p.Ile666Thr) single nucleotide variant not provided [RCV002023528] Chr3:155172133 [GRCh38]
Chr3:154889922 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1497+4A>G single nucleotide variant not provided [RCV001945419] Chr3:155147228 [GRCh38]
Chr3:154865017 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.849T>G (p.Ile283Met) single nucleotide variant not provided [RCV001912098] Chr3:155138230 [GRCh38]
Chr3:154856019 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.934T>A (p.Phe312Ile) single nucleotide variant not provided [RCV002039794] Chr3:155140269 [GRCh38]
Chr3:154858058 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1300G>A (p.Gly434Arg) single nucleotide variant not provided [RCV002000763] Chr3:155143554 [GRCh38]
Chr3:154861343 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1511A>T (p.Glu504Val) single nucleotide variant not provided [RCV001957229] Chr3:155148563 [GRCh38]
Chr3:154866352 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1609A>C (p.Ser537Arg) single nucleotide variant not provided [RCV001883718] Chr3:155160397 [GRCh38]
Chr3:154878186 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1332T>C (p.Ile444=) single nucleotide variant not provided [RCV001888523] Chr3:155144373 [GRCh38]
Chr3:154862162 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.770G>A (p.Arg257His) single nucleotide variant not provided [RCV002014411] Chr3:155138151 [GRCh38]
Chr3:154855940 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1282G>A (p.Val428Met) single nucleotide variant not provided [RCV002038128] Chr3:155143536 [GRCh38]
Chr3:154861325 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.601A>T (p.Ile201Phe) single nucleotide variant not provided [RCV001935231] Chr3:155116933 [GRCh38]
Chr3:154834722 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.2237A>G (p.Lys746Arg) single nucleotide variant not provided [RCV002050931] Chr3:155180443 [GRCh38]
Chr3:154898232 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.2010C>T (p.Gly670=) single nucleotide variant not provided [RCV002048301] Chr3:155172146 [GRCh38]
Chr3:154889935 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1121G>A (p.Arg374Lys) single nucleotide variant not provided [RCV001962553] Chr3:155142263 [GRCh38]
Chr3:154860052 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.604_607del (p.Asn202fs) deletion not provided [RCV001962991] Chr3:155116933..155116936 [GRCh38]
Chr3:154834722..154834725 [GRCh37]
Chr3:3q25.2
pathogenic
NM_007289.4(MME):c.1815del (p.Trp606fs) deletion not provided [RCV001963035] Chr3:155168526 [GRCh38]
Chr3:154886315 [GRCh37]
Chr3:3q25.2
pathogenic
NM_007289.4(MME):c.1819T>C (p.Trp607Arg) single nucleotide variant not provided [RCV002033239] Chr3:155168530 [GRCh38]
Chr3:154886319 [GRCh37]
Chr3:3q25.2
uncertain significance
NC_000003.11:g.(?_154832763)_(154832964_?)del deletion not provided [RCV001982245] Chr3:154832763..154832964 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.2195C>G (p.Ala732Gly) single nucleotide variant not provided [RCV002035615] Chr3:155180401 [GRCh38]
Chr3:154898190 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.900_901dup (p.Asn301fs) microsatellite not provided [RCV001999821] Chr3:155140232..155140233 [GRCh38]
Chr3:154858021..154858022 [GRCh37]
Chr3:3q25.2
pathogenic
NM_007289.4(MME):c.2076+3A>G single nucleotide variant not provided [RCV001963531] Chr3:155172215 [GRCh38]
Chr3:154890004 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1095-19G>A single nucleotide variant not provided [RCV002015238] Chr3:155142218 [GRCh38]
Chr3:154860007 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1199G>C (p.Gly400Ala) single nucleotide variant not provided [RCV001885606] Chr3:155143453 [GRCh38]
Chr3:154861242 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1914C>T (p.His638=) single nucleotide variant not provided [RCV002011248] Chr3:155168625 [GRCh38]
Chr3:154886414 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1183C>T (p.Arg395Cys) single nucleotide variant not provided [RCV001943685] Chr3:155142325 [GRCh38]
Chr3:154860114 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.134T>C (p.Met45Thr) single nucleotide variant not provided [RCV002012935] Chr3:155084301 [GRCh38]
Chr3:154802090 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.269G>T (p.Gly90Val) single nucleotide variant not provided [RCV001993556] Chr3:155115066 [GRCh38]
Chr3:154832855 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1598A>G (p.Asp533Gly) single nucleotide variant not provided [RCV002029568] Chr3:155148650 [GRCh38]
Chr3:154866439 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1153C>T (p.Arg385Ter) single nucleotide variant not provided [RCV001878688] Chr3:155142295 [GRCh38]
Chr3:154860084 [GRCh37]
Chr3:3q25.2
pathogenic
NM_007289.4(MME):c.792del (p.Ile264fs) deletion not provided [RCV002049549] Chr3:155138173 [GRCh38]
Chr3:154855962 [GRCh37]
Chr3:3q25.2
pathogenic
NM_007289.4(MME):c.1318-3G>A single nucleotide variant not provided [RCV001867303] Chr3:155144356 [GRCh38]
Chr3:154862145 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.245A>T (p.Asp82Val) single nucleotide variant not provided [RCV001920733] Chr3:155115042 [GRCh38]
Chr3:154832831 [GRCh37]
Chr3:3q25.2
uncertain significance
NC_000003.11:g.(?_154886501)_(154886606_?)dup duplication not provided [RCV001920747] Chr3:154886501..154886606 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.2153+4C>T single nucleotide variant not provided [RCV001975340] Chr3:155172616 [GRCh38]
Chr3:154890405 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.668G>T (p.Arg223Leu) single nucleotide variant not provided [RCV001931552] Chr3:155118759 [GRCh38]
Chr3:154836548 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.514G>C (p.Glu172Gln) single nucleotide variant not provided [RCV002015145] Chr3:155116738 [GRCh38]
Chr3:154834527 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.711C>G (p.Ile237Met) single nucleotide variant not provided [RCV001932735] Chr3:155118802 [GRCh38]
Chr3:154836591 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.336T>A (p.Asp112Glu) single nucleotide variant not provided [RCV001920951] Chr3:155115133 [GRCh38]
Chr3:154832922 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.112C>G (p.Leu38Val) single nucleotide variant not provided [RCV001875354] Chr3:155084279 [GRCh38]
Chr3:154802068 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1189-3T>A single nucleotide variant not provided [RCV002028953] Chr3:155143440 [GRCh38]
Chr3:154861229 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.793G>A (p.Asp265Asn) single nucleotide variant not provided [RCV001920184] Chr3:155138174 [GRCh38]
Chr3:154855963 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.929del (p.Asn310fs) deletion not provided [RCV001921563] Chr3:155140261 [GRCh38]
Chr3:154858050 [GRCh37]
Chr3:3q25.2
pathogenic
NM_007289.4(MME):c.856-4A>G single nucleotide variant not provided [RCV002031865] Chr3:155140187 [GRCh38]
Chr3:154857976 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.2108C>T (p.Ala703Val) single nucleotide variant not provided [RCV001918665] Chr3:155172567 [GRCh38]
Chr3:154890356 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1520A>G (p.Tyr507Cys) single nucleotide variant not provided [RCV002030564] Chr3:155148572 [GRCh38]
Chr3:154866361 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1866G>A (p.Met622Ile) single nucleotide variant not provided [RCV002030711] Chr3:155168577 [GRCh38]
Chr3:154886366 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1497+5G>A single nucleotide variant not provided [RCV001957713] Chr3:155147229 [GRCh38]
Chr3:154865018 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.2084G>A (p.Cys695Tyr) single nucleotide variant not provided [RCV001959754] Chr3:155172543 [GRCh38]
Chr3:154890332 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.72G>T (p.Trp24Cys) single nucleotide variant not provided [RCV001996532] Chr3:155084239 [GRCh38]
Chr3:154802028 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.2141C>T (p.Pro714Leu) single nucleotide variant not provided [RCV002036774] Chr3:155172600 [GRCh38]
Chr3:154890389 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.2154-5_2160del deletion not provided [RCV001900733] Chr3:155180353..155180364 [GRCh38]
Chr3:154898142..154898153 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1228C>T (p.Arg410Cys) single nucleotide variant not provided [RCV001994898] Chr3:155143482 [GRCh38]
Chr3:154861271 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.911C>T (p.Thr304Ile) single nucleotide variant not provided [RCV001866365] Chr3:155140246 [GRCh38]
Chr3:154858035 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1930A>G (p.Thr644Ala) single nucleotide variant not provided [RCV001938639] Chr3:155168747 [GRCh38]
Chr3:154886536 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.2155A>T (p.Ile719Phe) single nucleotide variant not provided [RCV001906007] Chr3:155180361 [GRCh38]
Chr3:154898150 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1834G>A (p.Ala612Thr) single nucleotide variant not provided [RCV002009670] Chr3:155168545 [GRCh38]
Chr3:154886334 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1016C>T (p.Thr339Ile) single nucleotide variant not provided [RCV001921953] Chr3:155142049 [GRCh38]
Chr3:154859838 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1343G>A (p.Arg448Gln) single nucleotide variant not provided [RCV002033977] Chr3:155144384 [GRCh38]
Chr3:154862173 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1390G>A (p.Glu464Lys) single nucleotide variant not provided [RCV002034030] Chr3:155144431 [GRCh38]
Chr3:154862220 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.446T>C (p.Ile149Thr) single nucleotide variant not provided [RCV001886071] Chr3:155116670 [GRCh38]
Chr3:154834459 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1672G>A (p.Gly558Ser) single nucleotide variant not provided [RCV001977346] Chr3:155166913 [GRCh38]
Chr3:154884702 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1348G>T (p.Val450Phe) single nucleotide variant not provided [RCV002027945] Chr3:155144389 [GRCh38]
Chr3:154862178 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1305G>C (p.Glu435Asp) single nucleotide variant not provided [RCV001990792] Chr3:155143559 [GRCh38]
Chr3:154861348 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.146A>G (p.Tyr49Cys) single nucleotide variant not provided [RCV001878586] Chr3:155084313 [GRCh38]
Chr3:154802102 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1948G>A (p.Ala650Thr) single nucleotide variant not provided [RCV002026830] Chr3:155168765 [GRCh38]
Chr3:154886554 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1010G>A (p.Ser337Asn) single nucleotide variant not provided [RCV001997318] Chr3:155142043 [GRCh38]
Chr3:154859832 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.318C>A (p.Asn106Lys) single nucleotide variant not provided [RCV001980883] Chr3:155115115 [GRCh38]
Chr3:154832904 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.124G>A (p.Ala42Thr) single nucleotide variant not provided [RCV001961407] Chr3:155084291 [GRCh38]
Chr3:154802080 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.2075A>G (p.Gln692Arg) single nucleotide variant not provided [RCV002035702] Chr3:155172211 [GRCh38]
Chr3:154890000 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1188G>A (p.Lys396=) single nucleotide variant not provided [RCV001973940] Chr3:155142330 [GRCh38]
Chr3:154860119 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.2140C>T (p.Pro714Ser) single nucleotide variant not provided [RCV001879174] Chr3:155172599 [GRCh38]
Chr3:154890388 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1137T>G (p.Leu379=) single nucleotide variant not provided [RCV001973819] Chr3:155142279 [GRCh38]
Chr3:154860068 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.779A>C (p.Glu260Ala) single nucleotide variant not provided [RCV001878379] Chr3:155138160 [GRCh38]
Chr3:154855949 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1689dup (p.Phe564fs) duplication not provided [RCV001994862] Chr3:155166924..155166925 [GRCh38]
Chr3:154884713..154884714 [GRCh37]
Chr3:3q25.2
pathogenic
NM_007289.4(MME):c.476A>G (p.Lys159Arg) single nucleotide variant not provided [RCV001898244] Chr3:155116700 [GRCh38]
Chr3:154834489 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.389T>C (p.Ile130Thr) single nucleotide variant not provided [RCV001955654] Chr3:155116509 [GRCh38]
Chr3:154834298 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.2143G>A (p.Gly715Ser) single nucleotide variant not provided [RCV001976753] Chr3:155172602 [GRCh38]
Chr3:154890391 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1914+6T>A single nucleotide variant not provided [RCV001898555] Chr3:155168631 [GRCh38]
Chr3:154886420 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.298del (p.Thr100fs) deletion not provided [RCV001993132] Chr3:155115095 [GRCh38]
Chr3:154832884 [GRCh37]
Chr3:3q25.2
pathogenic
NM_007289.4(MME):c.440-8T>A single nucleotide variant not provided [RCV002013006] Chr3:155116656 [GRCh38]
Chr3:154834445 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.857C>T (p.Ala286Val) single nucleotide variant not provided [RCV001995233] Chr3:155140192 [GRCh38]
Chr3:154857981 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1080C>T (p.Thr360=) single nucleotide variant not provided [RCV002192081] Chr3:155142113 [GRCh38]
Chr3:154859902 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.42C>T (p.Asn14=) single nucleotide variant not provided [RCV002126874] Chr3:155084209 [GRCh38]
Chr3:154801998 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1318-110G>A single nucleotide variant not provided [RCV002210975] Chr3:155144249 [GRCh38]
Chr3:154862038 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1094+5G>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002225185] Chr3:155142132 [GRCh38]
Chr3:154859921 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.958-3del deletion not provided [RCV002169867] Chr3:155141987 [GRCh38]
Chr3:154859776 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1914+18T>C single nucleotide variant not provided [RCV002190483] Chr3:155168643 [GRCh38]
Chr3:154886432 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.924C>A (p.Ile308=) single nucleotide variant not provided [RCV002109117] Chr3:155140259 [GRCh38]
Chr3:154858048 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.655-11A>G single nucleotide variant not provided [RCV002071228] Chr3:155118735 [GRCh38]
Chr3:154836524 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1981-10A>C single nucleotide variant not provided [RCV002206376] Chr3:155172107 [GRCh38]
Chr3:154889896 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.2052A>G (p.Gln684=) single nucleotide variant not provided [RCV002111085] Chr3:155172188 [GRCh38]
Chr3:154889977 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1152C>T (p.Ser384=) single nucleotide variant not provided [RCV002169445] Chr3:155142294 [GRCh38]
Chr3:154860083 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1661-16T>C single nucleotide variant not provided [RCV002148451] Chr3:155166886 [GRCh38]
Chr3:154884675 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1647A>G (p.Gly549=) single nucleotide variant not provided [RCV002167556] Chr3:155160435 [GRCh38]
Chr3:154878224 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.264C>T (p.Cys88=) single nucleotide variant not provided [RCV002074736] Chr3:155115061 [GRCh38]
Chr3:154832850 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.536-18T>C single nucleotide variant not provided [RCV002192323] Chr3:155116850 [GRCh38]
Chr3:154834639 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.411A>G (p.Lys137=) single nucleotide variant not provided [RCV002165333] Chr3:155116531 [GRCh38]
Chr3:154834320 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.720+16del deletion not provided [RCV002208470] Chr3:155118820 [GRCh38]
Chr3:154836609 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.2196C>T (p.Ala732=) single nucleotide variant not provided [RCV002212760] Chr3:155180402 [GRCh38]
Chr3:154898191 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1869G>C (p.Val623=) single nucleotide variant not provided [RCV002196737] Chr3:155168580 [GRCh38]
Chr3:154886369 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.576T>C (p.Asn192=) single nucleotide variant not provided [RCV002173823] Chr3:155116908 [GRCh38]
Chr3:154834697 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1320C>T (p.Val440=) single nucleotide variant not provided [RCV002096317] Chr3:155144361 [GRCh38]
Chr3:154862150 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1095-20C>T single nucleotide variant not provided [RCV002153386] Chr3:155142217 [GRCh38]
Chr3:154860006 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.196+10G>T single nucleotide variant not provided [RCV002084928] Chr3:155085104 [GRCh38]
Chr3:154802893 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1443C>A (p.Gly481=) single nucleotide variant not provided [RCV002087076] Chr3:155147170 [GRCh38]
Chr3:154864959 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1189-5C>T single nucleotide variant not provided [RCV002111531] Chr3:155143438 [GRCh38]
Chr3:154861227 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.954G>A (p.Gly318=) single nucleotide variant not provided [RCV002193300] Chr3:155140289 [GRCh38]
Chr3:154858078 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.1189-14_1189-7dup duplication not provided [RCV002194216] Chr3:155143426..155143427 [GRCh38]
Chr3:154861215..154861216 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1778A>G (p.Asn593Ser) single nucleotide variant not provided [RCV002135271] Chr3:155167019 [GRCh38]
Chr3:154884808 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.162T>C (p.Asp54=) single nucleotide variant not provided [RCV002171176] Chr3:155085060 [GRCh38]
Chr3:154802849 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1626C>G (p.Val542=) single nucleotide variant not provided [RCV002213094] Chr3:155160414 [GRCh38]
Chr3:154878203 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.720+19A>G single nucleotide variant not provided [RCV002133710] Chr3:155118830 [GRCh38]
Chr3:154836619 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1497+20A>G single nucleotide variant not provided [RCV002114614] Chr3:155147244 [GRCh38]
Chr3:154865033 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.753T>C (p.Ser251=) single nucleotide variant not provided [RCV002146425] Chr3:155138134 [GRCh38]
Chr3:154855923 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.2030G>A (p.Gly677Glu) single nucleotide variant not provided [RCV002223697] Chr3:155172166 [GRCh38]
Chr3:154889955 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.1161C>T (p.Tyr387=) single nucleotide variant not provided [RCV002075046] Chr3:155142303 [GRCh38]
Chr3:154860092 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.957+12G>T single nucleotide variant not provided [RCV002196582] Chr3:155140304 [GRCh38]
Chr3:154858093 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1317+8T>G single nucleotide variant not provided [RCV002093851] Chr3:155143579 [GRCh38]
Chr3:154861368 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.240T>C (p.Cys80=) single nucleotide variant not provided [RCV002199482] Chr3:155115037 [GRCh38]
Chr3:154832826 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.161-13C>T single nucleotide variant not provided [RCV002203196] Chr3:155085046 [GRCh38]
Chr3:154802835 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.196+19G>A single nucleotide variant not provided [RCV002157330] Chr3:155085113 [GRCh38]
Chr3:154802902 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1389C>T (p.Ala463=) single nucleotide variant not provided [RCV002117550] Chr3:155144430 [GRCh38]
Chr3:154862219 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1590G>A (p.Val530=) single nucleotide variant not provided [RCV002124115] Chr3:155148642 [GRCh38]
Chr3:154866431 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.2153+9A>C single nucleotide variant not provided [RCV002084142] Chr3:155172621 [GRCh38]
Chr3:154890410 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.161-11C>A single nucleotide variant not provided [RCV002178427] Chr3:155085048 [GRCh38]
Chr3:154802837 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1809C>T (p.Leu603=) single nucleotide variant not provided [RCV002161371] Chr3:155168520 [GRCh38]
Chr3:154886309 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1188+12dup duplication not provided [RCV002218738] Chr3:155142336..155142337 [GRCh38]
Chr3:154860125..154860126 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1281T>C (p.Tyr427=) single nucleotide variant not provided [RCV002175612] Chr3:155143535 [GRCh38]
Chr3:154861324 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.2153+10T>C single nucleotide variant not provided [RCV002102555] Chr3:155172622 [GRCh38]
Chr3:154890411 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.2153+11A>G single nucleotide variant not provided [RCV002183813] Chr3:155172623 [GRCh38]
Chr3:154890412 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1661-17A>G single nucleotide variant not provided [RCV002219543] Chr3:155166885 [GRCh38]
Chr3:154884674 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.1479G>T (p.Leu493=) single nucleotide variant not provided [RCV002082548] Chr3:155147206 [GRCh38]
Chr3:154864995 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.655-16T>C single nucleotide variant not provided [RCV002164405] Chr3:155118730 [GRCh38]
Chr3:154836519 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.861G>A (p.Thr287=) single nucleotide variant not provided [RCV002164499] Chr3:155140196 [GRCh38]
Chr3:154857985 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.2076+14C>G single nucleotide variant not provided [RCV002180293] Chr3:155172226 [GRCh38]
Chr3:154890015 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1980+12del deletion not provided [RCV002122698] Chr3:155168804 [GRCh38]
Chr3:154886593 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.1728G>A (p.Gly576=) single nucleotide variant not provided [RCV002220416] Chr3:155166969 [GRCh38]
Chr3:154884758 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1314T>C (p.His438=) single nucleotide variant not provided [RCV002156383] Chr3:155143568 [GRCh38]
Chr3:154861357 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.655-12T>C single nucleotide variant not provided [RCV002175957] Chr3:155118734 [GRCh38]
Chr3:154836523 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.721-18G>A single nucleotide variant not provided [RCV002201083] Chr3:155138084 [GRCh38]
Chr3:154855873 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1095-17T>C single nucleotide variant not provided [RCV002099426] Chr3:155142220 [GRCh38]
Chr3:154860009 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.161-20A>G single nucleotide variant not provided [RCV002137318] Chr3:155085039 [GRCh38]
Chr3:154802828 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.855+19T>C single nucleotide variant not provided [RCV002135568] Chr3:155138255 [GRCh38]
Chr3:154856044 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.2109G>T (p.Ala703=) single nucleotide variant not provided [RCV002201959] Chr3:155172568 [GRCh38]
Chr3:154890357 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.1953T>C (p.Asp651=) single nucleotide variant not provided [RCV002154342] Chr3:155168770 [GRCh38]
Chr3:154886559 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.193T>C (p.Ser65Pro) single nucleotide variant MME-related autosomal dominant Charcot Marie Tooth disease type 2 [RCV002221410] Chr3:155085091 [GRCh38]
Chr3:154802880 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_007289.4(MME):c.196+18C>T single nucleotide variant not provided [RCV002138439] Chr3:155085112 [GRCh38]
Chr3:154802901 [GRCh37]
Chr3:3q25.2
benign
NM_007289.4(MME):c.96G>A (p.Ser32=) single nucleotide variant not provided [RCV002202826] Chr3:155084263 [GRCh38]
Chr3:154802052 [GRCh37]
Chr3:3q25.2
likely benign
NM_007289.4(MME):c.197-20T>C single nucleotide variant not provided [RCV002159180] Chr3:155114974 [GRCh38]
Chr3:154832763 [GRCh37]
Chr3:3q25.2
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7154 AgrOrtholog
COSMIC MME COSMIC
Ensembl Genes ENSG00000196549 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000353679 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000372450 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000417079 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000418525 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000418791 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSP00000419653 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000420389 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000420542 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSP00000478173 UniProtKB/TrEMBL
  ENSP00000502021 ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSP00000505211 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000505690 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000360490 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000382989 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000460393 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000462745 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000473730 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENST00000491026 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENST00000492661 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000493237 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000615825 UniProtKB/TrEMBL
  ENST00000675418 ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENST00000680057 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000680282 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.1380.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.390.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000196549 GTEx
HGNC ID HGNC:7154 ENTREZGENE
Human Proteome Map MME Human Proteome Map
InterPro MetalloPept_cat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MME/CD10/NEP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M13 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M13_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M13_dom_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M13_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4311 UniProtKB/Swiss-Prot
NCBI Gene 4311 ENTREZGENE
OMIM 120520 OMIM
  617017 OMIM
  617018 OMIM
PANTHER PTHR11733 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11733:SF114 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Peptidase_M13 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M13_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30864 PharmGKB
PRINTS NEPRILYSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE NEPRILYSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_PROTEASE UniProtKB/Swiss-Prot
UniProt A0A6Q8PFY6_HUMAN UniProtKB/TrEMBL
  A0A7I2U302_HUMAN UniProtKB/TrEMBL
  B7ZKY6_HUMAN UniProtKB/TrEMBL
  C9IYX7_HUMAN UniProtKB/TrEMBL
  C9JDZ3_HUMAN UniProtKB/TrEMBL
  L7Z660_HUMAN UniProtKB/TrEMBL
  L7ZC27_HUMAN UniProtKB/TrEMBL
  L8E8E1_HUMAN UniProtKB/TrEMBL
  NEP_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q3KQS6_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8K6U6 UniProtKB/Swiss-Prot
  D3DNJ9 UniProtKB/Swiss-Prot
  Q3MIX4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-08-16 MME  membrane metalloendopeptidase    membrane metallo-endopeptidase  Symbol and/or name change 5135510 APPROVED
2011-08-16 MME  membrane metallo-endopeptidase  MME  membrane metallo-endopeptidase  Symbol and/or name change 5135510 APPROVED