CHRM3 (cholinergic receptor muscarinic 3) - Rat Genome Database

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Gene: CHRM3 (cholinergic receptor muscarinic 3) Homo sapiens
Analyze
Symbol: CHRM3
Name: cholinergic receptor muscarinic 3
RGD ID: 734195
HGNC Page HGNC
Description: Predicted to enable G protein-coupled acetylcholine receptor activity; G protein-coupled serotonin receptor activity; and acetylcholine binding activity. Involved in acetylcholine receptor signaling pathway. Acts upstream of or within calcium-mediated signaling and regulation of ion transmembrane transporter activity. Located in plasma membrane. Part of basal plasma membrane. Implicated in bladder disease; chronic obstructive pulmonary disease; prune belly syndrome; and pulmonary fibrosis. Biomarker of asthma and small cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: acetylcholine receptor, muscarinic 3; cholinergic receptor, muscarinic 3; EGBRS; HM3; m3 muscarinic receptor; muscarinic acetylcholine receptor M3; PBS
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1239,386,565 - 239,915,452 (+)EnsemblGRCh38hg38GRCh38
GRCh381239,386,565 - 239,915,450 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371239,549,868 - 240,078,750 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361237,858,996 - 238,139,343 (+)NCBINCBI36hg18NCBI36
Build 341236,118,413 - 236,398,756NCBI
Celera1213,047,986 - 213,328,202 (+)NCBI
Cytogenetic Map1q43NCBI
HuRef1210,250,783 - 210,531,551 (+)NCBIHuRef
CHM1_11241,065,995 - 241,346,299 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrotoluene  (ISO)
2-deoxy-D-glucose  (ISO)
2-methyl-2-[4-(1,2,3,4-tetrahydronaphthalen-1-yl)phenoxy]propanoic acid  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
4-DAMP methiodide  (ISO)
4-DAMP(1+)  (EXP)
6-propyl-2-thiouracil  (ISO)
acetylcholine  (EXP,ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
aflatoxin B2  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
arecoline  (EXP)
aristolochic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
atropine  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP)
bethanechol  (EXP)
bisphenol A  (ISO)
brucine  (EXP)
cadmium dichloride  (ISO)
calcitriol  (EXP)
caracurine VII  (EXP)
carbachol  (EXP,ISO)
chlorohydrocarbon  (ISO)
chlorpyrifos  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
Cuprizon  (ISO)
darifenacin  (EXP,ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dichlorvos  (ISO)
diethylstilbestrol  (ISO)
dimethoate  (EXP,ISO)
disulfoton  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (ISO)
fipronil  (ISO)
fructose  (ISO)
furan  (ISO)
furtrethonium  (EXP)
genistein  (ISO)
glycidol  (ISO)
guanosine 5'-[beta,gamma-imido]triphosphate  (EXP)
hexacosan-1-ol  (ISO)
histamine  (ISO)
hydrogen chloride  (ISO)
ketamine  (EXP)
KT 5720  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
Licochalcone B  (EXP)
methoxychlor  (ISO)
methscopolamine  (EXP,ISO)
methylmercury chloride  (EXP)
metoclopramide  (ISO)
N-acetyl-L-cysteine  (ISO)
nafenopin  (ISO)
nickel atom  (EXP)
oxotremorine M  (EXP)
oxybutynin  (EXP)
pancuronium  (EXP)
panobinostat  (EXP)
paraoxon  (EXP)
parathion-methyl  (ISO)
picrotoxin  (ISO)
Pipecuronium  (EXP)
potassium chromate  (EXP)
potassium dichromate  (ISO)
pregnenolone  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (ISO)
propanal  (EXP)
quercetin  (ISO)
resveratrol  (ISO)
rocuronium  (EXP)
SB 203580  (ISO)
SB 431542  (EXP)
Securinine  (EXP)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP)
Solifenacin succinate  (ISO)
staurosporine  (ISO)
streptozocin  (ISO)
strychnine  (EXP,ISO)
sunitinib  (EXP)
taurodeoxycholic acid  (ISO)
taurolithocholic acid  (EXP)
testosterone  (EXP)
tetrachloromethane  (EXP,ISO)
thiopental  (EXP)
tiotropium bromide  (EXP)
tolterodine tartrate  (EXP)
trichostatin A  (EXP)
triptonide  (ISO)
tropan-3alpha-yl 3-hydroxy-2-phenylpropanoate  (EXP)
Tropicamide  (EXP)
valproic acid  (EXP,ISO)
vecuronium bromide  (EXP)
vorinostat  (EXP)
zinc oxide  (EXP)
zinc sulfate  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

References

Additional References at PubMed
PMID:1905013   PMID:2674717   PMID:2739737   PMID:3037705   PMID:3272174   PMID:3443095   PMID:7629074   PMID:8016895   PMID:8063729   PMID:8248499   PMID:8576254   PMID:9547368  
PMID:9603968   PMID:9740233   PMID:10051746   PMID:10336173   PMID:10777483   PMID:10940357   PMID:11238933   PMID:11306684   PMID:11665980   PMID:11856737   PMID:11867338   PMID:11877431  
PMID:12126481   PMID:12194018   PMID:12381439   PMID:12477932   PMID:12642833   PMID:12649280   PMID:12694864   PMID:12799371   PMID:14573754   PMID:14702039   PMID:14977875   PMID:15263021  
PMID:15280370   PMID:15383626   PMID:15452121   PMID:15489334   PMID:15725576   PMID:15769745   PMID:15870063   PMID:16113538   PMID:16303743   PMID:16368694   PMID:16710414   PMID:16754659  
PMID:17005862   PMID:17065150   PMID:17130513   PMID:17192665   PMID:17335853   PMID:17373692   PMID:17478539   PMID:17513382   PMID:17554300   PMID:17637176   PMID:17851256   PMID:17890325  
PMID:17951979   PMID:18070938   PMID:18240029   PMID:18249005   PMID:18272392   PMID:18348264   PMID:18385290   PMID:18422974   PMID:18524769   PMID:18563417   PMID:18996102   PMID:19033440  
PMID:19086053   PMID:19156168   PMID:19182865   PMID:19183167   PMID:19240061   PMID:19247692   PMID:19460789   PMID:19575010   PMID:19626040   PMID:19648965   PMID:19668880   PMID:19669628  
PMID:19751772   PMID:19874574   PMID:19927300   PMID:19951374   PMID:20146726   PMID:20332620   PMID:20395537   PMID:20398705   PMID:20489201   PMID:20519144   PMID:20602615   PMID:20613776  
PMID:21041608   PMID:21056967   PMID:21118716   PMID:21224444   PMID:21245133   PMID:21450750   PMID:21507922   PMID:21685385   PMID:21798865   PMID:21873635   PMID:21873996   PMID:21877253  
PMID:21940308   PMID:22077972   PMID:22137887   PMID:22178951   PMID:22192964   PMID:22410194   PMID:22466417   PMID:22500107   PMID:22510450   PMID:22511543   PMID:22564786   PMID:22610841  
PMID:22691178   PMID:22893470   PMID:22899762   PMID:22949513   PMID:23142559   PMID:23227858   PMID:23251661   PMID:23253743   PMID:23382834   PMID:23400010   PMID:23509962   PMID:23521066  
PMID:23704319   PMID:23760269   PMID:23786223   PMID:23838802   PMID:24334576   PMID:24393526   PMID:24419413   PMID:24430298   PMID:24522860   PMID:24596086   PMID:24697698   PMID:24821386  
PMID:25316767   PMID:25375131   PMID:25769304   PMID:25798074   PMID:25916507   PMID:25964092   PMID:26066647   PMID:26071486   PMID:26346168   PMID:26439863   PMID:26692031   PMID:26901532  
PMID:26956674   PMID:26959877   PMID:27221048   PMID:27460476   PMID:27803431   PMID:27923235   PMID:28008134   PMID:28053981   PMID:28276525   PMID:28298427   PMID:28411124   PMID:28412413  
PMID:28416748   PMID:28514442   PMID:28611215   PMID:29864421   PMID:29935595   PMID:29959237   PMID:29959979   PMID:30483762   PMID:31441039   PMID:31445019   PMID:31584702   PMID:31740666  
PMID:32205868   PMID:32614803  


Genomics

Comparative Map Data
CHRM3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1239,386,565 - 239,915,452 (+)EnsemblGRCh38hg38GRCh38
GRCh381239,386,565 - 239,915,450 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371239,549,868 - 240,078,750 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361237,858,996 - 238,139,343 (+)NCBINCBI36hg18NCBI36
Build 341236,118,413 - 236,398,756NCBI
Celera1213,047,986 - 213,328,202 (+)NCBI
Cytogenetic Map1q43NCBI
HuRef1210,250,783 - 210,531,551 (+)NCBIHuRef
CHM1_11241,065,995 - 241,346,299 (+)NCBICHM1_1
Chrm3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39139,925,522 - 10,411,131 (-)NCBIGRCm39mm39
GRCm39 Ensembl139,925,522 - 10,410,883 (-)Ensembl
GRCm38139,875,486 - 10,361,062 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl139,875,486 - 10,360,847 (-)EnsemblGRCm38mm10GRCm38
MGSCv37139,875,859 - 10,360,049 (-)NCBIGRCm37mm9NCBIm37
MGSCv36139,875,859 - 10,360,049 (-)NCBImm8
Celera139,820,205 - 10,316,018 (-)NCBICelera
Cytogenetic Map13A1NCBI
cM Map133.72NCBI
Chrm3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21760,005,137 - 60,467,250 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1760,005,202 - 60,467,278 (+)Ensembl
Rnor_6.01763,990,599 - 64,463,222 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1763,990,599 - 63,994,169 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01765,753,665 - 66,217,211 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41771,214,906 - 71,218,463 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11771,081,449 - 71,229,296 (+)NCBI
Celera1760,109,356 - 60,562,246 (-)NCBICelera
Cytogenetic Map17q12.1NCBI
Chrm3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955492958,949 - 960,721 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955492958,347 - 1,429,832 (-)NCBIChiLan1.0ChiLan1.0
CHRM3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11219,927,079 - 220,446,830 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v01214,931,514 - 215,452,739 (+)NCBIMhudiblu_PPA_v0panPan3
CHRM3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.14504,663 - 999,550 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl4506,990 - 520,613 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha4547,625 - 1,042,706 (-)NCBI
ROS_Cfam_1.04528,395 - 1,026,611 (-)NCBI
UMICH_Zoey_3.14522,413 - 1,023,728 (-)NCBI
UNSW_CanFamBas_1.04628,064 - 1,134,213 (-)NCBI
UU_Cfam_GSD_1.04882,752 - 1,377,924 (-)NCBI
Chrm3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934437,787,915 - 38,208,967 (-)NCBI
SpeTri2.0NW_00493648413,953,141 - 14,373,174 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CHRM3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1451,828,052 - 51,830,077 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11451,818,625 - 52,363,662 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21455,361,402 - 55,363,168 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CHRM3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12576,772,212 - 77,009,433 (+)NCBI
ChlSab1.1 Ensembl2577,001,477 - 77,003,249 (+)Ensembl
Vero_WHO_p1.0NW_02366605578,598,053 - 79,113,674 (+)NCBI
Chrm3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462477510,948,075 - 11,427,898 (-)NCBI

Position Markers
D1S1817E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371239,872,068 - 239,872,171UniSTSGRCh37
Build 361237,938,691 - 237,938,794RGDNCBI36
Celera1213,127,728 - 213,127,831RGD
Cytogenetic Map1q43UniSTS
HuRef1210,330,411 - 210,330,514UniSTS
TNG Radiation Hybrid Map1121133.0UniSTS
GeneMap99-GB4 RH Map1746.13UniSTS
NCBI RH Map12007.3UniSTS
AL034024  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371239,838,593 - 239,838,708UniSTSGRCh37
Build 361237,905,216 - 237,905,331RGDNCBI36
Celera1213,094,207 - 213,094,322RGD
Cytogenetic Map1q43UniSTS
HuRef1210,296,828 - 210,296,943UniSTS
SHGC-79693  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371239,906,076 - 239,906,363UniSTSGRCh37
Build 361237,972,699 - 237,972,986RGDNCBI36
Celera1213,161,525 - 213,161,812RGD
Cytogenetic Map1q43UniSTS
HuRef1210,364,708 - 210,364,995UniSTS
TNG Radiation Hybrid Map1121179.0UniSTS
SHGC-83993  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371240,009,886 - 240,010,076UniSTSGRCh37
Build 361238,076,509 - 238,076,699RGDNCBI36
Celera1213,265,353 - 213,265,543RGD
Cytogenetic Map1q43UniSTS
HuRef1210,468,684 - 210,468,874UniSTS
TNG Radiation Hybrid Map1121420.0UniSTS
G59665  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371239,872,140 - 239,872,239UniSTSGRCh37
Build 361237,938,763 - 237,938,862RGDNCBI36
Celera1213,127,800 - 213,127,899RGD
Cytogenetic Map1q43UniSTS
HuRef1210,330,483 - 210,330,582UniSTS
TNG Radiation Hybrid Map1121284.0UniSTS
G62753  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371239,815,876 - 239,816,208UniSTSGRCh37
Build 361237,882,499 - 237,882,831RGDNCBI36
Celera1213,071,489 - 213,071,821RGD
Cytogenetic Map1q43UniSTS
HuRef1210,274,109 - 210,274,440UniSTS
TNG Radiation Hybrid Map1121105.0UniSTS
SHGC-142291  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371239,980,603 - 239,980,938UniSTSGRCh37
Build 361238,047,226 - 238,047,561RGDNCBI36
Celera1213,236,066 - 213,236,401RGD
Cytogenetic Map1q43UniSTS
HuRef1210,439,390 - 210,439,725UniSTS
TNG Radiation Hybrid Map1121437.0UniSTS
SHGC-143172  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371239,876,581 - 239,876,899UniSTSGRCh37
Build 361237,943,204 - 237,943,522RGDNCBI36
Celera1213,132,241 - 213,132,559RGD
Cytogenetic Map1q43UniSTS
HuRef1210,334,924 - 210,335,242UniSTS
TNG Radiation Hybrid Map1121142.0UniSTS
SHGC-144279  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371239,982,222 - 239,982,538UniSTSGRCh37
Build 361238,048,845 - 238,049,161RGDNCBI36
Celera1213,237,685 - 213,238,001RGD
Cytogenetic Map1q43UniSTS
HuRef1210,441,009 - 210,441,325UniSTS
TNG Radiation Hybrid Map1121433.0UniSTS
SHGC-76591  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371240,015,349 - 240,015,491UniSTSGRCh37
Build 361238,081,972 - 238,082,114RGDNCBI36
Celera1213,270,816 - 213,270,958RGD
Cytogenetic Map1q43UniSTS
HuRef1210,474,147 - 210,474,289UniSTS
TNG Radiation Hybrid Map1121420.0UniSTS
GeneMap99-GB4 RH Map1746.13UniSTS
NCBI RH Map12006.8UniSTS
CHRM3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371240,071,104 - 240,071,383UniSTSGRCh37
GRCh371240,072,207 - 240,072,281UniSTSGRCh37
Build 361238,137,727 - 238,138,006RGDNCBI36
Celera1213,326,586 - 213,326,865RGD
Celera1213,327,689 - 213,327,763UniSTS
HuRef1210,531,038 - 210,531,112UniSTS
HuRef1210,529,935 - 210,530,214UniSTS
WI-10464  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371240,002,605 - 240,002,805UniSTSGRCh37
Build 361238,069,228 - 238,069,428RGDNCBI36
Celera1213,258,074 - 213,258,274RGD
Cytogenetic Map1q43UniSTS
HuRef1210,461,405 - 210,461,605UniSTS
Whitehead-RH Map1916.4UniSTS
AL009307  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371239,987,218 - 239,987,340UniSTSGRCh37
Build 361238,053,841 - 238,053,963RGDNCBI36
Celera1213,242,681 - 213,242,803RGD
Cytogenetic Map1q43UniSTS
HuRef1210,446,005 - 210,446,127UniSTS
AL009667  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371239,918,942 - 239,919,092UniSTSGRCh37
Build 361237,985,565 - 237,985,715RGDNCBI36
Celera1213,174,390 - 213,174,540RGD
Cytogenetic Map1q43UniSTS
HuRef1210,377,715 - 210,377,865UniSTS
AL009400  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371239,901,537 - 239,901,695UniSTSGRCh37
Build 361237,968,160 - 237,968,318RGDNCBI36
Celera1213,156,987 - 213,157,145RGD
Cytogenetic Map1q43UniSTS
HuRef1210,360,168 - 210,360,326UniSTS
AL009465  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371239,968,458 - 239,968,580UniSTSGRCh37
Build 361238,035,081 - 238,035,203RGDNCBI36
Celera1213,223,924 - 213,224,046RGD
Cytogenetic Map1q43UniSTS
HuRef1210,427,247 - 210,427,369UniSTS
D1S2381  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371239,872,081 - 239,872,305UniSTSGRCh37
Build 361237,938,704 - 237,938,928RGDNCBI36
Celera1213,127,741 - 213,127,965RGD
Cytogenetic Map1q43UniSTS
HuRef1210,330,424 - 210,330,648UniSTS
GeneMap99-GB4 RH Map1746.13UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map12007.7UniSTS
SHGC-76586  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371240,072,439 - 240,072,575UniSTSGRCh37
Build 361238,139,062 - 238,139,198RGDNCBI36
Celera1213,327,921 - 213,328,057RGD
Cytogenetic Map1q43UniSTS
HuRef1210,531,270 - 210,531,406UniSTS
TNG Radiation Hybrid Map1121477.0UniSTS
GeneMap99-GB4 RH Map1746.13UniSTS
NCBI RH Map12007.3UniSTS
SHGC-76588  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371239,873,119 - 239,873,265UniSTSGRCh37
Build 361237,939,742 - 237,939,888RGDNCBI36
Celera1213,128,779 - 213,128,925RGD
Cytogenetic Map1q43UniSTS
HuRef1210,331,462 - 210,331,608UniSTS
TNG Radiation Hybrid Map1121128.0UniSTS
GeneMap99-GB4 RH Map1746.13UniSTS
NCBI RH Map12006.4UniSTS
G16250  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371239,819,091 - 239,819,263UniSTSGRCh37
Build 361237,885,714 - 237,885,886RGDNCBI36
Celera1213,074,704 - 213,074,876RGD
Cytogenetic Map1q43UniSTS
HuRef1210,277,323 - 210,277,495UniSTS
WIAF-1659  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371239,872,138 - 239,872,245UniSTSGRCh37
Build 361237,938,761 - 237,938,868RGDNCBI36
Celera1213,127,798 - 213,127,905RGD
Cytogenetic Map1q43UniSTS
HuRef1210,330,481 - 210,330,588UniSTS
GeneMap99-GB4 RH Map1746.13UniSTS
NCBI RH Map12007.3UniSTS
AFMA072XA5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371239,971,100 - 239,971,230UniSTSGRCh37
Build 361238,037,723 - 238,037,853RGDNCBI36
Celera1213,226,566 - 213,226,696RGD
Cytogenetic Map1q43UniSTS
HuRef1210,429,889 - 210,430,019UniSTS
Whitehead-YAC Contig Map1 UniSTS
CHRM3_4570  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371240,071,235 - 240,072,084UniSTSGRCh37
Build 361238,137,858 - 238,138,707RGDNCBI36
Celera1213,326,717 - 213,327,566RGD
HuRef1210,530,066 - 210,530,915UniSTS
CHRM3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371240,071,104 - 240,071,383UniSTSGRCh37
GRCh371240,072,207 - 240,072,281UniSTSGRCh37
Build 361238,137,727 - 238,138,006RGDNCBI36
Celera1213,326,586 - 213,326,865RGD
Celera1213,327,689 - 213,327,763UniSTS
HuRef1210,531,038 - 210,531,112UniSTS
HuRef1210,529,935 - 210,530,214UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2872
Count of miRNA genes:1280
Interacting mature miRNAs:1621
Transcripts:ENST00000255380, ENST00000448020, ENST00000468573, ENST00000481779, ENST00000487470, ENST00000492335
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 724 1 8 17 6 495 134 10 21 18 7
Low 1604 532 946 238 301 96 1551 414 1692 244 988 1302 149 118 839 4 2
Below cutoff 105 2259 731 335 947 325 2708 1186 1856 138 410 278 16 1 1085 1872

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB041395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC099564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF279779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF385589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF498917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH011672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL357499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL513543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC121026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC121027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ772140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX099030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ782536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U29589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X15266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000255380   ⟹   ENSP00000255380
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1239,629,073 - 239,915,452 (+)Ensembl
RefSeq Acc Id: ENST00000448020   ⟹   ENSP00000404764
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1239,719,543 - 239,907,780 (+)Ensembl
RefSeq Acc Id: ENST00000468573
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1239,386,565 - 239,886,596 (+)Ensembl
RefSeq Acc Id: ENST00000481779
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1239,408,220 - 239,546,612 (+)Ensembl
RefSeq Acc Id: ENST00000487470
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1239,632,251 - 239,703,649 (+)Ensembl
RefSeq Acc Id: ENST00000492335
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1239,386,920 - 239,606,207 (+)Ensembl
RefSeq Acc Id: ENST00000615928   ⟹   ENSP00000482377
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1239,387,256 - 239,909,381 (+)Ensembl
RefSeq Acc Id: ENST00000674678
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1239,386,948 - 239,556,966 (+)Ensembl
RefSeq Acc Id: ENST00000675184   ⟹   ENSP00000502349
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1239,386,957 - 239,909,396 (+)Ensembl
RefSeq Acc Id: ENST00000675709   ⟹   ENSP00000502129
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1239,826,074 - 239,907,950 (+)Ensembl
RefSeq Acc Id: ENST00000676153   ⟹   ENSP00000502667
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1239,386,568 - 239,915,450 (+)Ensembl
RefSeq Acc Id: ENST00000676433   ⟹   ENSP00000502013
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1239,613,328 - 239,909,378 (+)Ensembl
RefSeq Acc Id: NM_000740   ⟹   NP_000731
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,629,073 - 239,915,450 (+)NCBI
GRCh371239,549,876 - 240,078,750 (+)NCBI
Build 361237,858,996 - 238,139,343 (+)NCBI Archive
HuRef1210,250,783 - 210,531,551 (+)ENTREZGENE
CHM1_11241,065,995 - 241,346,299 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001347716   ⟹   NP_001334645
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,386,568 - 239,915,450 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001375978   ⟹   NP_001362907
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,386,568 - 239,915,450 (+)NCBI
RefSeq Acc Id: NM_001375979   ⟹   NP_001362908
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,386,568 - 239,915,450 (+)NCBI
RefSeq Acc Id: NM_001375980   ⟹   NP_001362909
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,386,568 - 239,915,450 (+)NCBI
RefSeq Acc Id: NM_001375981   ⟹   NP_001362910
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,386,568 - 239,915,450 (+)NCBI
RefSeq Acc Id: NM_001375982   ⟹   NP_001362911
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,386,568 - 239,915,450 (+)NCBI
RefSeq Acc Id: NM_001375983   ⟹   NP_001362912
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,386,568 - 239,915,450 (+)NCBI
RefSeq Acc Id: NM_001375984   ⟹   NP_001362913
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,386,568 - 239,915,450 (+)NCBI
RefSeq Acc Id: NM_001375985   ⟹   NP_001362914
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,386,568 - 239,915,450 (+)NCBI
RefSeq Acc Id: NR_164748
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,386,568 - 239,886,598 (+)NCBI
RefSeq Acc Id: XM_011544043   ⟹   XP_011542345
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,386,565 - 239,915,450 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544044   ⟹   XP_011542346
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,386,565 - 239,915,450 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544047   ⟹   XP_011542349
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,386,565 - 239,915,450 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017000152   ⟹   XP_016855641
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,480,869 - 239,915,450 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017000154   ⟹   XP_016855643
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,527,104 - 239,915,450 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017000157   ⟹   XP_016855646
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,589,728 - 239,915,450 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017000159   ⟹   XP_016855648
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,386,565 - 239,915,450 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017000160   ⟹   XP_016855649
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,634,424 - 239,915,450 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017000162   ⟹   XP_016855651
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,386,565 - 239,915,450 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017000163   ⟹   XP_016855652
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,822,061 - 239,915,450 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000731 (Get FASTA)   NCBI Sequence Viewer  
  NP_001334645 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362907 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362908 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362909 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362910 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362911 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362912 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362913 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362914 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542345 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542346 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542349 (Get FASTA)   NCBI Sequence Viewer  
  XP_016855641 (Get FASTA)   NCBI Sequence Viewer  
  XP_016855643 (Get FASTA)   NCBI Sequence Viewer  
  XP_016855646 (Get FASTA)   NCBI Sequence Viewer  
  XP_016855648 (Get FASTA)   NCBI Sequence Viewer  
  XP_016855649 (Get FASTA)   NCBI Sequence Viewer  
  XP_016855651 (Get FASTA)   NCBI Sequence Viewer  
  XP_016855652 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA70337 (Get FASTA)   NCBI Sequence Viewer  
  AAG30036 (Get FASTA)   NCBI Sequence Viewer  
  AAH96844 (Get FASTA)   NCBI Sequence Viewer  
  AAI21027 (Get FASTA)   NCBI Sequence Viewer  
  AAK68114 (Get FASTA)   NCBI Sequence Viewer  
  AAM18940 (Get FASTA)   NCBI Sequence Viewer  
  AAM63959 (Get FASTA)   NCBI Sequence Viewer  
  BAA94480 (Get FASTA)   NCBI Sequence Viewer  
  CAA33337 (Get FASTA)   NCBI Sequence Viewer  
  CAF85818 (Get FASTA)   NCBI Sequence Viewer  
  EAW70076 (Get FASTA)   NCBI Sequence Viewer  
  EAW70077 (Get FASTA)   NCBI Sequence Viewer  
  EAW70078 (Get FASTA)   NCBI Sequence Viewer  
  P20309 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000731   ⟸   NM_000740
- UniProtKB: P20309 (UniProtKB/Swiss-Prot),   A0A024R3S2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011542345   ⟸   XM_011544043
- Peptide Label: isoform X1
- UniProtKB: P20309 (UniProtKB/Swiss-Prot),   A0A024R3S2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011542346   ⟸   XM_011544044
- Peptide Label: isoform X1
- UniProtKB: P20309 (UniProtKB/Swiss-Prot),   A0A024R3S2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011542349   ⟸   XM_011544047
- Peptide Label: isoform X1
- UniProtKB: P20309 (UniProtKB/Swiss-Prot),   A0A024R3S2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016855648   ⟸   XM_017000159
- Peptide Label: isoform X1
- UniProtKB: P20309 (UniProtKB/Swiss-Prot),   A0A024R3S2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016855651   ⟸   XM_017000162
- Peptide Label: isoform X1
- UniProtKB: P20309 (UniProtKB/Swiss-Prot),   A0A024R3S2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016855641   ⟸   XM_017000152
- Peptide Label: isoform X1
- UniProtKB: P20309 (UniProtKB/Swiss-Prot),   A0A024R3S2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016855643   ⟸   XM_017000154
- Peptide Label: isoform X1
- UniProtKB: P20309 (UniProtKB/Swiss-Prot),   A0A024R3S2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016855646   ⟸   XM_017000157
- Peptide Label: isoform X1
- UniProtKB: P20309 (UniProtKB/Swiss-Prot),   A0A024R3S2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016855649   ⟸   XM_017000160
- Peptide Label: isoform X1
- UniProtKB: P20309 (UniProtKB/Swiss-Prot),   A0A024R3S2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016855652   ⟸   XM_017000163
- Peptide Label: isoform X1
- UniProtKB: P20309 (UniProtKB/Swiss-Prot),   A0A024R3S2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001334645   ⟸   NM_001347716
- UniProtKB: P20309 (UniProtKB/Swiss-Prot),   A0A024R3S2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001362911   ⟸   NM_001375982
RefSeq Acc Id: NP_001362907   ⟸   NM_001375978
RefSeq Acc Id: NP_001362912   ⟸   NM_001375983
RefSeq Acc Id: NP_001362908   ⟸   NM_001375979
RefSeq Acc Id: NP_001362913   ⟸   NM_001375984
RefSeq Acc Id: NP_001362910   ⟸   NM_001375981
RefSeq Acc Id: NP_001362914   ⟸   NM_001375985
RefSeq Acc Id: NP_001362909   ⟸   NM_001375980
RefSeq Acc Id: ENSP00000255380   ⟸   ENST00000255380
RefSeq Acc Id: ENSP00000482377   ⟸   ENST00000615928
RefSeq Acc Id: ENSP00000404764   ⟸   ENST00000448020
RefSeq Acc Id: ENSP00000502129   ⟸   ENST00000675709
RefSeq Acc Id: ENSP00000502349   ⟸   ENST00000675184
RefSeq Acc Id: ENSP00000502667   ⟸   ENST00000676153
RefSeq Acc Id: ENSP00000502013   ⟸   ENST00000676433
Protein Domains
G_PROTEIN_RECEP_F1_2

Promoters
RGD ID:6786540
Promoter ID:HG_KWN:8023
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   NB4
Transcripts:OTTHUMT00000095642,   OTTHUMT00000095645,   OTTHUMT00000314627
Position:
Human AssemblyChrPosition (strand)Source
Build 361237,949,111 - 237,949,897 (-)MPROMDB
RGD ID:6859388
Promoter ID:EPDNEW_H2859
Type:single initiation site
Name:CHRM3_1
Description:cholinergic receptor muscarinic 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381239,771,481 - 239,771,541EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000740.3(CHRM3):c.1173_1184delinsT (p.Pro392fs) indel Prune belly syndrome [RCV000022466] Chr1:239908624..239908635 [GRCh38]
Chr1:240071924..240071935 [GRCh37]
Chr1:1q43
pathogenic
NM_000740.2(CHRM3):c.-146-52905C>A single nucleotide variant Lung cancer [RCV000090664] Chr1:239774347 [GRCh38]
Chr1:239937647 [GRCh37]
Chr1:1q43
uncertain significance
NM_000740.2(CHRM3):c.-146-43882T>A single nucleotide variant Lung cancer [RCV000090665] Chr1:239783370 [GRCh38]
Chr1:239946670 [GRCh37]
Chr1:1q43
uncertain significance
NM_000740.2(CHRM3):c.-146-3210T>A single nucleotide variant Lung cancer [RCV000090666] Chr1:239824042 [GRCh38]
Chr1:239987342 [GRCh37]
Chr1:1q43
uncertain significance
NM_000740.2(CHRM3):c.-20+23378C>G single nucleotide variant Lung cancer [RCV000090667] Chr1:239850756 [GRCh38]
Chr1:240014056 [GRCh37]
Chr1:1q43
uncertain significance
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q43(chr1:239631841-242609012)x3 copy number gain See cases [RCV000051587] Chr1:239631841..242609012 [GRCh38]
Chr1:239795141..242772314 [GRCh37]
Chr1:237861764..240838937 [NCBI36]
Chr1:1q43
uncertain significance
GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1 copy number loss See cases [RCV000051082] Chr1:230106271..243677283 [GRCh38]
Chr1:230242018..243840585 [GRCh37]
Chr1:228308641..241907208 [NCBI36]
Chr1:1q42.13-44
pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q42.3-44(chr1:236237049-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|See cases [RCV000051883] Chr1:236237049..248918469 [GRCh38]
Chr1:236400349..249212668 [GRCh37]
Chr1:234466972..247179291 [NCBI36]
Chr1:1q42.3-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239657468-248918610)x3 copy number gain See cases [RCV000051886] Chr1:239657468..248918610 [GRCh38]
Chr1:239820768..249212809 [GRCh37]
Chr1:237887391..247179432 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q42.2-44(chr1:232097468-248918610)x1 copy number loss See cases [RCV000053985] Chr1:232097468..248918610 [GRCh38]
Chr1:232233214..249212809 [GRCh37]
Chr1:230299837..247179432 [NCBI36]
Chr1:1q42.2-44
pathogenic
GRCh38/hg38 1q42.2-43(chr1:233486559-239971543)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053986]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053986]|See cases [RCV000053986] Chr1:233486559..239971543 [GRCh38]
Chr1:233622305..240134843 [GRCh37]
Chr1:231688928..238201466 [NCBI36]
Chr1:1q42.2-43
pathogenic
GRCh38/hg38 1q43-44(chr1:237041745-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053989]|See cases [RCV000053989] Chr1:237041745..248918469 [GRCh38]
Chr1:237205045..249212668 [GRCh37]
Chr1:235271668..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:237906379-244022201)x1 copy number loss See cases [RCV000053990] Chr1:237906379..244022201 [GRCh38]
Chr1:238069679..244185503 [GRCh37]
Chr1:236136302..242252126 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238061020-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053991]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053991]|See cases [RCV000053991] Chr1:238061020..248918469 [GRCh38]
Chr1:238224320..249212668 [GRCh37]
Chr1:236290943..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43(chr1:238412092-241098768)x1 copy number loss See cases [RCV000053992] Chr1:238412092..241098768 [GRCh38]
Chr1:238575392..241262068 [GRCh37]
Chr1:236642015..239328691 [NCBI36]
Chr1:1q43
pathogenic
GRCh38/hg38 1q43-44(chr1:239496961-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053993]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053993]|See cases [RCV000053993] Chr1:239496961..248918469 [GRCh38]
Chr1:239660261..249212668 [GRCh37]
Chr1:237726884..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1 copy number loss See cases [RCV000054023] Chr1:239558430..248918469 [GRCh38]
Chr1:239721730..249212668 [GRCh37]
Chr1:237788353..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1 copy number loss See cases [RCV000054024] Chr1:239629868..248924593 [GRCh38]
Chr1:239793168..249218792 [GRCh37]
Chr1:237859791..247185415 [NCBI36]
Chr1:1q43-44
pathogenic
NM_000740.2(CHRM3):c.1282C>T (p.Pro428Ser) single nucleotide variant Malignant melanoma [RCV000060116] Chr1:239908733 [GRCh38]
Chr1:240072033 [GRCh37]
Chr1:238138656 [NCBI36]
Chr1:1q43
not provided
NM_000740.2(CHRM3):c.599G>A (p.Trp200Ter) single nucleotide variant Malignant melanoma [RCV000064605] Chr1:239908050 [GRCh38]
Chr1:240071350 [GRCh37]
Chr1:238137973 [NCBI36]
Chr1:1q43
not provided
NC_000001.11:g.239450324T>C single nucleotide variant Lung cancer [RCV000090662] Chr1:239450324 [GRCh38]
Chr1:239613624 [GRCh37]
Chr1:1q43
uncertain significance
NC_000001.11:g.239610387A>G single nucleotide variant Lung cancer [RCV000090663] Chr1:239610387 [GRCh38]
Chr1:239773687 [GRCh37]
Chr1:1q43
uncertain significance
GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1 copy number loss See cases [RCV000134751] Chr1:238753749..248918467 [GRCh38]
Chr1:238917049..249212666 [GRCh37]
Chr1:236983672..247179289 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1 copy number loss See cases [RCV000134172] Chr1:238351121..248918469 [GRCh38]
Chr1:238514421..249212668 [GRCh37]
Chr1:236581044..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q43(chr1:239777071-240028234)x1 copy number loss See cases [RCV000137124] Chr1:239777071..240028234 [GRCh38]
Chr1:239940371..240191534 [GRCh37]
Chr1:238006994..238258157 [NCBI36]
Chr1:1q43
uncertain significance
GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3 copy number gain See cases [RCV000136666] Chr1:229022909..248918469 [GRCh38]
Chr1:229158656..249212668 [GRCh37]
Chr1:227225279..247179291 [NCBI36]
Chr1:1q42.13-44
pathogenic
GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1 copy number loss See cases [RCV000137554] Chr1:236556082..248918469 [GRCh38]
Chr1:236719382..249212668 [GRCh37]
Chr1:234786005..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43(chr1:237322513-240310271)x1 copy number loss See cases [RCV000137510] Chr1:237322513..240310271 [GRCh38]
Chr1:237485813..240473571 [GRCh37]
Chr1:235552436..238540194 [NCBI36]
Chr1:1q43
uncertain significance
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1 copy number loss See cases [RCV000140039] Chr1:238033575..248924534 [GRCh38]
Chr1:238196875..249218733 [GRCh37]
Chr1:236263498..247185356 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43(chr1:239288025-242458053)x1 copy number loss See cases [RCV000141690] Chr1:239288025..242458053 [GRCh38]
Chr1:239451325..242621355 [GRCh37]
Chr1:237517948..240687978 [NCBI36]
Chr1:1q43
pathogenic
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 copy number gain See cases [RCV000142448] Chr1:225438480..248787200 [GRCh38]
Chr1:225626182..249060210 [GRCh37]
Chr1:223692805..247048022 [NCBI36]
Chr1:1q42.12-44
pathogenic
GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1 copy number loss See cases [RCV000142518] Chr1:237643281..248918469 [GRCh38]
Chr1:237806581..249212668 [GRCh37]
Chr1:235873204..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1 copy number loss See cases [RCV000143374] Chr1:238192880..248930485 [GRCh38]
Chr1:238356180..249224684 [GRCh37]
Chr1:236422803..247191307 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q43(chr1:237255048-239452455)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051885]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051885]|See cases [RCV000051885] Chr1:237255048..239452455 [GRCh38]
Chr1:237418348..239615755 [GRCh37]
Chr1:235484971..237682378 [NCBI36]
Chr1:1q43
pathogenic
NG_032046.2:g.169545_239936dup duplication Gestational diabetes mellitus uncontrolled [RCV000161198] Chr1:239551474..239621865 [GRCh38]
Chr1:239714774..239785165 [GRCh37]
Chr1:1q43
not provided
GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3 copy number gain See cases [RCV000240034] Chr1:234050864..249213059 [GRCh37]
Chr1:1q42.2-44
pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44
pathogenic
GRCh37/hg19 1q42.3-44(chr1:236515525-249224684)x3 copy number gain See cases [RCV000449458] Chr1:236515525..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1q43-44(chr1:237233879-249206548)x1 copy number loss See cases [RCV000447669] Chr1:237233879..249206548 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q43-44(chr1:239781260-249224684)x3 copy number gain See cases [RCV000447584] Chr1:239781260..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q42.3-44(chr1:235374095-249224684)x1 copy number loss See cases [RCV000447426] Chr1:235374095..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1q42.2-44(chr1:231670870-249213000)x3 copy number gain See cases [RCV000447654] Chr1:231670870..249213000 [GRCh37]
Chr1:1q42.2-44
pathogenic
GRCh37/hg19 1q43(chr1:238823930-240973278)x3 copy number gain See cases [RCV000446001] Chr1:238823930..240973278 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q43(chr1:239678218-239969806)x3 copy number gain See cases [RCV000445689] Chr1:239678218..239969806 [GRCh37]
Chr1:1q43
uncertain significance
NC_000001.11:g.(?_239538135)_(239561121_?)del deletion Schizophrenia [RCV000416654] Chr1:239538135..239561121 [GRCh38]
Chr1:239701435..239724421 [GRCh37]
Chr1:237768058..237791044 [NCBI36]
Chr1:1q43
likely pathogenic
GRCh37/hg19 1q42.2-43(chr1:232226609-241010904)x1 copy number loss See cases [RCV000447936] Chr1:232226609..241010904 [GRCh37]
Chr1:1q42.2-43
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q42.3-44(chr1:235797384-249224684)x1 copy number loss See cases [RCV000510546] Chr1:235797384..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1q42.2-43(chr1:234605553-240932205)x1 copy number loss See cases [RCV000510599] Chr1:234605553..240932205 [GRCh37]
Chr1:1q42.2-43
pathogenic
GRCh37/hg19 1q43(chr1:240023337-240625982)x3 copy number gain See cases [RCV000510616] Chr1:240023337..240625982 [GRCh37]
Chr1:1q43
likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44
pathogenic
GRCh37/hg19 1q43(chr1:239569530-241526991)x3 copy number gain See cases [RCV000512448] Chr1:239569530..241526991 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q43(chr1:237672980-240999398)x1 copy number loss See cases [RCV000512307] Chr1:237672980..240999398 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3 copy number gain not provided [RCV000684707] Chr1:228529973..249181598 [GRCh37]
Chr1:1q42.13-44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q42.2-44(chr1:232232335-249218992)x3 copy number gain not provided [RCV000749394] Chr1:232232335..249218992 [GRCh37]
Chr1:1q42.2-44
pathogenic
GRCh37/hg19 1q43(chr1:239774393-239813953)x1 copy number loss not provided [RCV000736915] Chr1:239774393..239813953 [GRCh37]
Chr1:1q43
benign
GRCh37/hg19 1q43(chr1:239774393-239828164)x1 copy number loss not provided [RCV000736916] Chr1:239774393..239828164 [GRCh37]
Chr1:1q43
benign
GRCh37/hg19 1q43(chr1:239832680-239867143)x1 copy number loss not provided [RCV000736917] Chr1:239832680..239867143 [GRCh37]
Chr1:1q43
benign
GRCh37/hg19 1q43-44(chr1:236617216-244515378)x1 copy number loss not provided [RCV000749402] Chr1:236617216..244515378 [GRCh37]
Chr1:1q43-44
pathogenic
NM_001375978.1(CHRM3):c.1758C>T (p.Pro586=) single nucleotide variant not provided [RCV000907070] Chr1:239909209 [GRCh38]
Chr1:240072509 [GRCh37]
Chr1:1q43
likely benign
NM_001375978.1(CHRM3):c.1353G>A (p.Thr451=) single nucleotide variant not provided [RCV000903593] Chr1:239908804 [GRCh38]
Chr1:240072104 [GRCh37]
Chr1:1q43
likely benign
NM_001375978.1(CHRM3):c.1059C>T (p.Asp353=) single nucleotide variant not provided [RCV000879541] Chr1:239908510 [GRCh38]
Chr1:240071810 [GRCh37]
Chr1:1q43
likely benign
NM_001375978.1(CHRM3):c.192C>T (p.Thr64=) single nucleotide variant not provided [RCV000899591] Chr1:239907643 [GRCh38]
Chr1:240070943 [GRCh37]
Chr1:1q43
likely benign
NM_001375978.1(CHRM3):c.802C>T (p.Leu268=) single nucleotide variant not provided [RCV000936945] Chr1:239908253 [GRCh38]
Chr1:240071553 [GRCh37]
Chr1:1q43
likely benign
NM_001375978.1(CHRM3):c.1152C>T (p.Pro384=) single nucleotide variant not provided [RCV000953654] Chr1:239908603 [GRCh38]
Chr1:240071903 [GRCh37]
Chr1:1q43
likely benign
NM_001375978.1(CHRM3):c.1292T>C (p.Leu431Pro) single nucleotide variant not provided [RCV000970066] Chr1:239908743 [GRCh38]
Chr1:240072043 [GRCh37]
Chr1:1q43
benign
NM_001375978.1(CHRM3):c.328C>T (p.Leu110=) single nucleotide variant not provided [RCV000894535] Chr1:239907779 [GRCh38]
Chr1:240071079 [GRCh37]
Chr1:1q43
likely benign
GRCh37/hg19 1q43(chr1:239823151-239862101)x1 copy number loss not provided [RCV001005197] Chr1:239823151..239862101 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q43(chr1:239910959-240298869)x3 copy number gain not provided [RCV000848296] Chr1:239910959..240298869 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q43-44(chr1:238669293-249224684)x3 copy number gain not provided [RCV000849904] Chr1:238669293..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787415] Chr1:239423954..241162538 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q42.3-44(chr1:235582580-249224684)x3 copy number gain not provided [RCV000846184] Chr1:235582580..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
Single allele deletion Hereditary leiomyomatosis and renal cell cancer [RCV000850150] Chr1:237244834..242310908 [GRCh37]
Chr1:1q43
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787399] Chr1:238817623..244138230 [GRCh37]
Chr1:1q43-44
likely pathogenic
NM_001375978.1(CHRM3):c.1449G>A (p.Leu483=) single nucleotide variant not provided [RCV000895777] Chr1:239908900 [GRCh38]
Chr1:240072200 [GRCh37]
Chr1:1q43
likely benign
NM_001375978.1(CHRM3):c.1206G>A (p.Glu402=) single nucleotide variant not provided [RCV000961112] Chr1:239908657 [GRCh38]
Chr1:240071957 [GRCh37]
Chr1:1q43
likely benign
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
GRCh37/hg19 1q43(chr1:239601103-239965763)x3 copy number gain not provided [RCV000846974] Chr1:239601103..239965763 [GRCh37]
Chr1:1q43
uncertain significance
GRCh37/hg19 1q43(chr1:239922136-240308244)x3 copy number gain not provided [RCV001005198] Chr1:239922136..240308244 [GRCh37]
Chr1:1q43
likely benign
GRCh37/hg19 1q43(chr1:239692288-240383870)x1 copy number loss not provided [RCV001005196] Chr1:239692288..240383870 [GRCh37]
Chr1:1q43
uncertain significance
NM_001375978.1(CHRM3):c.1626G>A (p.Val542=) single nucleotide variant not provided [RCV000980557] Chr1:239909077 [GRCh38]
Chr1:240072377 [GRCh37]
Chr1:1q43
likely benign
NM_001375978.1(CHRM3):c.384C>T (p.Tyr128=) single nucleotide variant not provided [RCV000931840] Chr1:239907835 [GRCh38]
Chr1:240071135 [GRCh37]
Chr1:1q43
likely benign
NM_001375978.1(CHRM3):c.681T>C (p.Ser227=) single nucleotide variant not provided [RCV000955282] Chr1:239908132 [GRCh38]
Chr1:240071432 [GRCh37]
Chr1:1q43
likely benign
NM_001375978.1(CHRM3):c.1560C>T (p.Cys520=) single nucleotide variant not provided [RCV000911358] Chr1:239909011 [GRCh38]
Chr1:240072311 [GRCh37]
Chr1:1q43
likely benign
GRCh37/hg19 1q42.13-43(chr1:228832737-240993877)x3 copy number gain not provided [RCV001005187] Chr1:228832737..240993877 [GRCh37]
Chr1:1q42.13-43
pathogenic
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44
pathogenic
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44
pathogenic
NM_001375978.1(CHRM3):c.352G>A (p.Gly118Arg) single nucleotide variant Prune belly syndrome [RCV001251074] Chr1:239907803 [GRCh38]
Chr1:240071103 [GRCh37]
Chr1:1q43
pathogenic
GRCh37/hg19 1q43(chr1:239367007-239974659)x3 copy number gain not provided [RCV001259597] Chr1:239367007..239974659 [GRCh37]
Chr1:1q43
uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
NM_001375978.1(CHRM3):c.*144T>C single nucleotide variant not provided [RCV001535278] Chr1:239909368 [GRCh38]
Chr1:240072668 [GRCh37]
Chr1:1q43
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1952 AgrOrtholog
COSMIC CHRM3 COSMIC
Ensembl Genes ENSG00000133019 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000255380 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000404764 UniProtKB/TrEMBL
  ENSP00000482377 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000502013 UniProtKB/Swiss-Prot
  ENSP00000502129 UniProtKB/TrEMBL
  ENSP00000502349 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000502667 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000255380 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000448020 UniProtKB/TrEMBL
  ENST00000468573 ENTREZGENE
  ENST00000615928 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000675184 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000675709 UniProtKB/TrEMBL
  ENST00000676153 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000676433 UniProtKB/Swiss-Prot
GTEx ENSG00000133019 GTEx
HGNC ID HGNC:1952 ENTREZGENE
Human Proteome Map CHRM3 Human Proteome Map
InterPro GPCR_Rhodpsn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Musac_Ach_M3_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Musac_Ach_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1131 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1131 ENTREZGENE
OMIM 100100 OMIM
  118494 OMIM
Pfam 7tm_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB CHRM3 RGD, PharmGKB
PRINTS GPCRRHODOPSN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MUSCARINICR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MUSCRINICM3R UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_PROTEIN_RECEP_F1_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G_PROTEIN_RECEP_F1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART 7TM_GPCR_Srsx UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R3S2 ENTREZGENE
  A0A024R3W1_HUMAN UniProtKB/TrEMBL
  A0A6Q8PG67_HUMAN UniProtKB/TrEMBL
  ACM3_HUMAN UniProtKB/Swiss-Prot
  B1AN12_HUMAN UniProtKB/TrEMBL
  P20309 ENTREZGENE
  Q8NG01_HUMAN UniProtKB/TrEMBL
  Q96RG9_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q0VAJ8 UniProtKB/Swiss-Prot
  Q4QRI3 UniProtKB/Swiss-Prot
  Q5VXY2 UniProtKB/Swiss-Prot
  Q9HB60 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-14 CHRM3  cholinergic receptor muscarinic 3    cholinergic receptor, muscarinic 3  Symbol and/or name change 5135510 APPROVED
2011-08-16 CHRM3  cholinergic receptor, muscarinic 3  CHRM3  cholinergic receptor, muscarinic 3  Symbol and/or name change 5135510 APPROVED