GRIA3 (glutamate ionotropic receptor AMPA type subunit 3) - Rat Genome Database

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Gene: GRIA3 (glutamate ionotropic receptor AMPA type subunit 3) Homo sapiens
Analyze
Symbol: GRIA3
Name: glutamate ionotropic receptor AMPA type subunit 3
RGD ID: 737336
HGNC Page HGNC
Description: Exhibits AMPA glutamate receptor activity. Predicted to be involved in regulation of receptor recycling and response to lithium ion. Predicted to localize to dendritic spine; glutamatergic synapse; and integral component of plasma membrane. Implicated in syndromic X-linked intellectual disability 94.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AMPA-selective glutamate receptor 3; dJ1171F9.1; GluA3; gluR-3; GLUR-C; GLUR-K3; GLUR3; GLURC; glutamate receptor 3; glutamate receptor C; glutamate receptor ionotropic, AMPA 3; glutamate receptor subunit 3; glutamate receptor, ionotrophic, AMPA 3; glutamate receptor, ionotropic, AMPA 3; glutamate receptor, ionotropic, ampa3 (alpha 3); MRX94; MRXSW
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 EnsemblX123,184,153 - 123,490,915 (+)EnsemblGRCh38hg38GRCh38
GRCh38X123,184,278 - 123,490,915 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X122,318,131 - 122,624,766 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X122,145,777 - 122,452,447 (+)NCBINCBI36hg18NCBI36
Build 34X122,043,692 - 122,064,066NCBI
CeleraX122,704,041 - 123,010,712 (+)NCBI
Cytogenetic MapXq25NCBI
HuRefX111,704,466 - 112,009,621 (+)NCBIHuRef
CHM1_1X122,228,980 - 122,535,894 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile  (EXP)
1-nitropropane  (ISO)
17beta-estradiol  (ISO)
2,3,4,7,8-Pentachlorodibenzofuran  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-diaminotoluene  (ISO)
2,6-diaminotoluene  (ISO)
2-acetamidofluorene  (ISO)
2-nitro-p-phenylenediamine  (ISO)
2-nitrofluorene  (ISO)
2-nitropropane  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-(5-fluorouracil-1-yl)-L-alanine  (ISO)
3-methylcholanthrene  (ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
4-acetylaminofluorene  (ISO)
4-nitro-1,2-phenylenediamine  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
aldrin  (ISO)
all-trans-retinoic acid  (EXP,ISO)
ammonium chloride  (ISO)
anthracen-2-amine  (ISO)
arsenite(3-)  (ISO)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
benzoates  (ISO)
bisphenol A  (ISO)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
carbonyl sulfide  (ISO)
cefaloridine  (ISO)
celecoxib  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (ISO)
citalopram  (EXP)
Citreoviridin  (ISO)
cocaine  (EXP,ISO)
crocidolite asbestos  (ISO)
decabromodiphenyl ether  (ISO)
Diacetoxyscirpenol  (ISO)
dichloroacetic acid  (ISO)
diethyl maleate  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
etoposide  (ISO)
flutamide  (ISO)
folic acid  (ISO)
geldanamycin  (EXP)
Heliotrine  (ISO)
kainic acid  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
lithium atom  (ISO)
lithium hydride  (ISO)
mercury dibromide  (EXP)
methamphetamine  (ISO)
methylmercury chloride  (EXP)
mitomycin C  (ISO)
morphine  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
Nor-9-carboxy-delta9-THC  (EXP)
olanzapine  (ISO)
orphenadrine  (ISO)
p-chloromercuribenzoic acid  (EXP)
panobinostat  (EXP)
paracetamol  (EXP)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
phorbol 13-acetate 12-myristate  (ISO)
pirinixic acid  (EXP)
quercetin 3-O-beta-D-glucofuranoside  (ISO)
quercetin 3-O-beta-D-glucopyranoside  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
senecionine  (ISO)
Senkirkine  (ISO)
sulforaphane  (ISO)
testosterone  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
tremolite asbestos  (ISO)
tributylstannane  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
trimellitic anhydride  (ISO)
triptonide  (ISO)
valproic acid  (EXP,ISO)
venlafaxine hydrochloride  (ISO)
vinclozolin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormality of muscle size  (IAGP)
Aggressive behavior  (IAGP)
Autism  (IAGP)
Babinski sign  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Brachycephaly  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Cryptorchidism  (IAGP)
Deeply set eye  (IAGP)
Distal muscle weakness  (IAGP)
Dystonia  (IAGP)
Epileptic encephalopathy  (IAGP)
Eversion of lateral third of lower eyelids  (IAGP)
Facial hypotonia  (IAGP)
Genu recurvatum  (IAGP)
Global developmental delay  (IAGP)
Hydronephrosis  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hyporeflexia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, severe  (IAGP)
Joint laxity  (IAGP)
Kyphosis  (IAGP)
Macrocephaly  (IAGP)
Macrodontia of permanent maxillary central incisor  (IAGP)
Macrotia  (IAGP)
Malar flattening  (IAGP)
Mandibular prognathia  (IAGP)
Micropenis  (IAGP)
Motor delay  (IAGP)
Muscular hypotonia of the trunk  (IAGP)
Myoclonus  (IAGP)
Narrow palate  (IAGP)
Neurodevelopmental abnormality  (IAGP)
Open mouth  (IAGP)
Pain insensitivity  (IAGP)
Pes planus  (IAGP)
Poor eye contact  (IAGP)
Prominent supraorbital ridges  (IAGP)
Ptosis  (IAGP)
Recurrent infections  (IAGP)
Retrocerebellar cyst  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Self-mutilation  (IAGP)
Severe expressive language delay  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Short upper lip  (IAGP)
Sleep-wake cycle disturbance  (IAGP)
Slender build  (IAGP)
Spasticity  (IAGP)
Specific learning disability  (IAGP)
Status epilepticus  (IAGP)
Thick vermilion border  (IAGP)
Uplifted earlobe  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:1319477   PMID:1709304   PMID:7918660   PMID:8036512   PMID:8951883   PMID:9481670   PMID:9648857   PMID:9697855   PMID:9768844   PMID:9892356   PMID:10027300   PMID:10602120  
PMID:10644433   PMID:10688364   PMID:11160179   PMID:11725645   PMID:11891216   PMID:11931740   PMID:12125045   PMID:12172541   PMID:12477932   PMID:12682273   PMID:12700243   PMID:14663150  
PMID:14687553   PMID:15144856   PMID:15145077   PMID:15772651   PMID:16055064   PMID:16344560   PMID:16368877   PMID:16990550   PMID:17202328   PMID:17409242   PMID:17568425   PMID:17989220  
PMID:18163426   PMID:18311135   PMID:18593792   PMID:19004011   PMID:19086053   PMID:19156168   PMID:19217372   PMID:19295509   PMID:19449417   PMID:19548263   PMID:19736351   PMID:19933774  
PMID:19945495   PMID:20564826   PMID:20579352   PMID:20689760   PMID:20859245   PMID:21172611   PMID:21873635   PMID:21966062   PMID:22429480   PMID:23149219   PMID:23595422   PMID:23772601  
PMID:24292102   PMID:24561123   PMID:24652293   PMID:25433904   PMID:25613138   PMID:26912664   PMID:28284346   PMID:28514442   PMID:28751743   PMID:29016847   PMID:29338492   PMID:31498117  


Genomics

Comparative Map Data
GRIA3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX123,184,153 - 123,490,915 (+)EnsemblGRCh38hg38GRCh38
GRCh38X123,184,278 - 123,490,915 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X122,318,131 - 122,624,766 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X122,145,777 - 122,452,447 (+)NCBINCBI36hg18NCBI36
Build 34X122,043,692 - 122,064,066NCBI
CeleraX122,704,041 - 123,010,712 (+)NCBI
Cytogenetic MapXq25NCBI
HuRefX111,704,466 - 112,009,621 (+)NCBIHuRef
CHM1_1X122,228,980 - 122,535,894 (+)NCBICHM1_1
Gria3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X40,489,351 - 40,767,478 (+)NCBIGRCm39mm39
GRCm39 EnsemblX40,489,731 - 40,767,478 (+)Ensembl
GRCm38X41,400,819 - 41,678,601 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX41,400,854 - 41,678,601 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X38,754,481 - 39,031,778 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X37,646,141 - 37,923,227 (+)NCBImm8
CeleraX28,988,899 - 29,264,344 (+)NCBICelera
Cytogenetic MapXA4NCBI
cM MapX23.19NCBI
Gria3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X120,238,515 - 120,504,106 (+)NCBI
Rnor_6.0 EnsemblX127,562,660 - 127,829,753 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X127,561,843 - 127,829,763 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X127,655,758 - 127,922,244 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X3,452,523 - 3,718,486 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X3,460,084 - 3,724,042 (-)NCBI
CeleraX119,369,614 - 119,631,774 (+)NCBICelera
Cytogenetic MapXq35NCBI
Gria3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547311,281,379 - 11,574,907 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495547311,283,642 - 11,574,836 (-)NCBIChiLan1.0ChiLan1.0
GRIA3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X122,562,571 - 122,870,130 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX122,562,330 - 122,870,130 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X112,380,229 - 112,687,740 (+)NCBIMhudiblu_PPA_v0panPan3
GRIA3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X94,729,828 - 95,006,244 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX94,730,943 - 95,004,279 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX80,782,519 - 81,064,503 (+)NCBI
ROS_Cfam_1.0X96,499,224 - 96,776,045 (+)NCBI
UMICH_Zoey_3.1X93,943,627 - 94,219,547 (+)NCBI
UNSW_CanFamBas_1.0X95,702,771 - 95,978,497 (+)NCBI
UU_Cfam_GSD_1.0X95,485,249 - 95,767,174 (+)NCBI
Gria3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X93,664,315 - 93,937,477 (+)NCBI
SpeTri2.0NW_0049364797,050,018 - 7,323,047 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GRIA3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX100,827,461 - 101,109,209 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X100,827,293 - 101,109,213 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X115,591,526 - 115,873,477 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GRIA3
(Chlorocebus sabaeus - African green monkey)
No map positions available.
Gria3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247971,775,105 - 2,167,651 (+)NCBI

Position Markers
DXS1212  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X122,486,738 - 122,486,969UniSTSGRCh37
Build 36X122,314,419 - 122,314,650RGDNCBI36
CeleraX122,872,678 - 122,872,909RGD
Cytogenetic MapXq25UniSTS
Cytogenetic MapXq23UniSTS
HuRefX111,872,322 - 111,872,553UniSTS
Marshfield Genetic MapX75.79UniSTS
Marshfield Genetic MapX75.79RGD
Genethon Genetic MapX143.0UniSTS
deCODE Assembly MapX123.88UniSTS
GeneMap99-GB4 RH MapX299.8UniSTS
Whitehead-RH MapX277.6UniSTS
Whitehead-YAC Contig MapX UniSTS
NCBI RH MapX608.7UniSTS
AFM280vf5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X122,486,735 - 122,486,957UniSTSGRCh37
Build 36X122,314,416 - 122,314,638RGDNCBI36
CeleraX122,872,675 - 122,872,897RGD
Cytogenetic MapXq25UniSTS
HuRefX111,872,319 - 111,872,541UniSTS
TNG Radiation Hybrid MapX26022.0UniSTS
DXS8280  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X122,622,569 - 122,622,680UniSTSGRCh37
Build 36X122,450,250 - 122,450,361RGDNCBI36
CeleraX123,008,513 - 123,008,624RGD
Cytogenetic MapXq25UniSTS
HuRefX112,007,422 - 112,007,533UniSTS
GeneMap99-G3 RH MapX4099.0UniSTS
DXS7322  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X122,487,855 - 122,487,982UniSTSGRCh37
Build 36X122,315,536 - 122,315,663RGDNCBI36
CeleraX122,873,795 - 122,873,922RGD
Cytogenetic MapXq25UniSTS
HuRefX111,873,439 - 111,873,566UniSTS
SHGC-57682  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X122,565,746 - 122,565,914UniSTSGRCh37
Build 36X122,393,427 - 122,393,595RGDNCBI36
CeleraX122,951,692 - 122,951,860RGD
Cytogenetic MapXq25UniSTS
HuRefX111,950,520 - 111,950,688UniSTS
RH91805  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X122,623,400 - 122,623,568UniSTSGRCh37
Build 36X122,451,081 - 122,451,249RGDNCBI36
CeleraX123,009,346 - 123,009,514RGD
Cytogenetic MapXq25UniSTS
HuRefX112,008,255 - 112,008,423UniSTS
GeneMap99-GB4 RH MapX299.8UniSTS
RH80476  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X122,624,515 - 122,624,714UniSTSGRCh37
Build 36X122,452,196 - 122,452,395RGDNCBI36
CeleraX123,010,461 - 123,010,660RGD
Cytogenetic MapXq25UniSTS
HuRefX112,009,370 - 112,009,569UniSTS
GeneMap99-GB4 RH MapX299.8UniSTS
AL032579  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X122,543,217 - 122,543,380UniSTSGRCh37
Build 36X122,370,898 - 122,371,061RGDNCBI36
CeleraX122,929,164 - 122,929,327RGD
Cytogenetic MapXq25UniSTS
HuRefX111,928,073 - 111,928,236UniSTS
AL032602  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X122,463,159 - 122,463,332UniSTSGRCh37
Build 36X122,290,840 - 122,291,013RGDNCBI36
CeleraX122,849,097 - 122,849,270RGD
Cytogenetic MapXq25UniSTS
HuRefX111,849,204 - 111,849,377UniSTS
AL032603  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X122,578,405 - 122,578,546UniSTSGRCh37
Build 36X122,406,086 - 122,406,227RGDNCBI36
CeleraX122,964,352 - 122,964,493RGD
Cytogenetic MapXq25UniSTS
HuRefX111,963,221 - 111,963,362UniSTS
DXS7869  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X122,322,876 - 122,322,953UniSTSGRCh37
Build 36X122,150,557 - 122,150,634RGDNCBI36
CeleraX122,708,822 - 122,708,899RGD
Cytogenetic MapXq25UniSTS
DXS7921  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X122,535,379 - 122,535,466UniSTSGRCh37
Build 36X122,363,060 - 122,363,147RGDNCBI36
CeleraX122,921,326 - 122,921,413RGD
Cytogenetic MapXq25UniSTS
HuRefX111,920,234 - 111,920,321UniSTS
DXS7913  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X122,409,217 - 122,409,346UniSTSGRCh37
Build 36X122,236,898 - 122,237,027RGDNCBI36
CeleraX122,795,162 - 122,795,291RGD
Cytogenetic MapXq25UniSTS
HuRefX111,795,276 - 111,795,405UniSTS
DXS1353  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X122,578,528 - 122,578,667UniSTSGRCh37
Build 36X122,406,209 - 122,406,348RGDNCBI36
CeleraX122,964,475 - 122,964,614RGD
Cytogenetic MapXq25UniSTS
HuRefX111,963,344 - 111,963,483UniSTS
DXS7912  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X122,497,742 - 122,497,843UniSTSGRCh37
Build 36X122,325,423 - 122,325,524RGDNCBI36
CeleraX122,883,680 - 122,883,781RGD
Cytogenetic MapXq25UniSTS
HuRefX111,883,322 - 111,883,423UniSTS
RH123177  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X122,620,864 - 122,621,190UniSTSGRCh37
Build 36X122,448,545 - 122,448,871RGDNCBI36
CeleraX123,006,808 - 123,007,134RGD
Cytogenetic MapXq25UniSTS
HuRefX112,005,717 - 112,006,043UniSTS
TNG Radiation Hybrid MapX25955.0UniSTS
G65742  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X122,396,373 - 122,397,456UniSTSGRCh37
Build 36X122,224,054 - 122,225,137RGDNCBI36
CeleraX122,782,318 - 122,783,401RGD
Cytogenetic MapXq25UniSTS
HuRefX111,782,581 - 111,783,664UniSTS
WI-21212  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X122,624,429 - 122,624,694UniSTSGRCh37
Build 36X122,452,110 - 122,452,375RGDNCBI36
CeleraX123,010,375 - 123,010,640RGD
Cytogenetic MapXq25UniSTS
HuRefX112,009,284 - 112,009,549UniSTS
GeneMap99-GB4 RH MapX299.7UniSTS
Whitehead-RH MapX277.6UniSTS
NCBI RH MapX610.2UniSTS
DXS7334  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X122,474,403 - 122,474,475UniSTSGRCh37
Build 36X122,302,084 - 122,302,156RGDNCBI36
CeleraX122,860,342 - 122,860,414RGD
Cytogenetic MapXq25UniSTS
HuRefX111,859,984 - 111,860,056UniSTS
AL008928  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X122,385,014 - 122,385,143UniSTSGRCh37
Build 36X122,212,695 - 122,212,824RGDNCBI36
CeleraX122,770,959 - 122,771,088RGD
Cytogenetic MapXq25UniSTS
HuRefX111,770,769 - 111,770,898UniSTS
AL008898  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X122,516,747 - 122,516,886UniSTSGRCh37
Build 36X122,344,428 - 122,344,567RGDNCBI36
CeleraX122,902,685 - 122,902,824RGD
Cytogenetic MapXq25UniSTS
HuRefX111,901,631 - 111,901,770UniSTS
DXS7332  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X122,581,764 - 122,581,898UniSTSGRCh37
Build 36X122,409,445 - 122,409,579RGDNCBI36
CeleraX122,967,711 - 122,967,845RGD
Cytogenetic MapXq25UniSTS
HuRefX111,966,580 - 111,966,714UniSTS
DXS9909  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X122,530,030 - 122,530,174UniSTSGRCh37
Build 36X122,357,711 - 122,357,855RGDNCBI36
CeleraX122,915,968 - 122,916,121RGD
Cytogenetic MapXq25UniSTS
HuRefX111,914,876 - 111,915,029UniSTS
Marshfield Genetic MapX78.5UniSTS
deCODE Assembly MapX123.88UniSTS
DXS7329  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X122,593,705 - 122,593,824UniSTSGRCh37
Build 36X122,421,386 - 122,421,505RGDNCBI36
CeleraX122,979,652 - 122,979,771RGD
Cytogenetic MapXq25UniSTS
HuRefX111,978,471 - 111,978,590UniSTS
DXS7335  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X122,367,576 - 122,367,702UniSTSGRCh37
Build 36X122,195,257 - 122,195,383RGDNCBI36
CeleraX122,753,524 - 122,753,650RGD
Cytogenetic MapXq25UniSTS
HuRefX111,753,755 - 111,753,881UniSTS
AL008897  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X122,390,676 - 122,390,809UniSTSGRCh37
Build 36X122,218,357 - 122,218,490RGDNCBI36
CeleraX122,776,621 - 122,776,754RGD
Cytogenetic MapXq25UniSTS
HuRefX111,776,749 - 111,776,882UniSTS
GRIA3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X122,551,400 - 122,551,558UniSTSGRCh37
CeleraX122,937,347 - 122,937,505UniSTS
HuRefX111,936,254 - 111,936,412UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3683
Count of miRNA genes:1191
Interacting mature miRNAs:1504
Transcripts:ENST00000264357, ENST00000371251, ENST00000371256, ENST00000371264, ENST00000371266, ENST00000460123, ENST00000477389, ENST00000479118, ENST00000541091, ENST00000542149
Prediction methods:Microtar, Miranda, Pita, Pita,Targetscan, 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 adipose tissue appendage entire extraembryonic component
High
Medium 1 61 3 4 3 6 1847 1 16 5
Low 1324 1687 803 305 318 301 2516 566 1703 182 983 313 6 704 1589 2
Below cutoff 977 1038 794 283 1089 126 1745 1569 147 132 332 1066 156 500 1182 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF201349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL035426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW166130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE504553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BY799542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA158269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA179917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA180344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA191279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB505790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U10301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U10302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z82899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000460123
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX123,482,723 - 123,488,942 (+)Ensembl
RefSeq Acc Id: ENST00000477389
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX123,354,909 - 123,361,323 (+)Ensembl
RefSeq Acc Id: ENST00000479118
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX123,184,560 - 123,253,702 (+)Ensembl
RefSeq Acc Id: ENST00000541091   ⟹   ENSP00000446440
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX123,184,483 - 123,483,046 (+)Ensembl
RefSeq Acc Id: ENST00000611689   ⟹   ENSP00000478758
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX123,184,299 - 123,204,683 (+)Ensembl
RefSeq Acc Id: ENST00000616590   ⟹   ENSP00000479607
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX123,184,153 - 123,204,683 (+)Ensembl
RefSeq Acc Id: ENST00000620443   ⟹   ENSP00000478489
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX123,184,278 - 123,490,915 (+)Ensembl
RefSeq Acc Id: ENST00000620581   ⟹   ENSP00000481875
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX123,184,371 - 123,488,736 (+)Ensembl
RefSeq Acc Id: ENST00000622768   ⟹   ENSP00000481554
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX123,184,243 - 123,490,905 (+)Ensembl
RefSeq Acc Id: NM_000828   ⟹   NP_000819
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X123,184,278 - 123,490,915 (+)NCBI
GRCh37X122,317,996 - 122,624,766 (+)NCBI
Build 36X122,145,777 - 122,452,447 (+)NCBI Archive
HuRefX111,704,466 - 112,009,621 (+)ENTREZGENE
CHM1_1X122,228,980 - 122,535,894 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256743   ⟹   NP_001243672
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X123,184,278 - 123,204,683 (+)NCBI
GRCh37X122,317,996 - 122,624,766 (+)NCBI
HuRefX111,704,466 - 112,009,621 (+)NCBI
CHM1_1X122,228,980 - 122,249,422 (+)NCBI
Sequence:
RefSeq Acc Id: NM_007325   ⟹   NP_015564
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X123,184,278 - 123,490,915 (+)NCBI
GRCh37X122,317,996 - 122,624,766 (+)NCBI
Build 36X122,145,777 - 122,452,447 (+)NCBI Archive
HuRefX111,704,466 - 112,009,621 (+)ENTREZGENE
CHM1_1X122,228,980 - 122,535,894 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000819   ⟸   NM_000828
- Peptide Label: isoform 2 precursor
- Sequence:
RefSeq Acc Id: NP_015564   ⟸   NM_007325
- Peptide Label: isoform 1 precursor
- Sequence:
RefSeq Acc Id: NP_001243672   ⟸   NM_001256743
- Peptide Label: isoform 3 precursor
- UniProtKB: Q5XKG2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000446440   ⟸   ENST00000541091
RefSeq Acc Id: ENSP00000481875   ⟸   ENST00000620581
RefSeq Acc Id: ENSP00000478489   ⟸   ENST00000620443
RefSeq Acc Id: ENSP00000481554   ⟸   ENST00000622768
RefSeq Acc Id: ENSP00000478758   ⟸   ENST00000611689
RefSeq Acc Id: ENSP00000479607   ⟸   ENST00000616590
Protein Domains
Lig_chan-Glu_bd   PBPe

Promoters
RGD ID:6808892
Promoter ID:HG_KWN:67956
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000335161,   ENST00000371251,   ENST00000371266,   NM_000828,   NM_007325,   OTTHUMT00000058856,   UC004ETS.2,   UC010NQS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X122,144,811 - 122,145,311 (+)MPROMDB
RGD ID:13628010
Promoter ID:EPDNEW_H29280
Type:initiation region
Name:GRIA3_3
Description:glutamate ionotropic receptor AMPA type subunit 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29281  EPDNEW_H29282  EPDNEW_H29283  EPDNEW_H29284  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X123,183,573 - 123,183,633EPDNEW
RGD ID:13628012
Promoter ID:EPDNEW_H29281
Type:initiation region
Name:GRIA3_1
Description:glutamate ionotropic receptor AMPA type subunit 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29280  EPDNEW_H29282  EPDNEW_H29283  EPDNEW_H29284  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X123,183,962 - 123,184,022EPDNEW
RGD ID:13628014
Promoter ID:EPDNEW_H29282
Type:initiation region
Name:GRIA3_5
Description:glutamate ionotropic receptor AMPA type subunit 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29280  EPDNEW_H29281  EPDNEW_H29283  EPDNEW_H29284  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X123,184,240 - 123,184,300EPDNEW
RGD ID:13628016
Promoter ID:EPDNEW_H29283
Type:initiation region
Name:GRIA3_2
Description:glutamate ionotropic receptor AMPA type subunit 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29280  EPDNEW_H29281  EPDNEW_H29282  EPDNEW_H29284  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X123,184,345 - 123,184,405EPDNEW
RGD ID:13628018
Promoter ID:EPDNEW_H29284
Type:initiation region
Name:GRIA3_4
Description:glutamate ionotropic receptor AMPA type subunit 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29280  EPDNEW_H29281  EPDNEW_H29282  EPDNEW_H29283  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X123,184,505 - 123,184,565EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_007325.5(GRIA3):c.1991C>T (p.Pro664Leu) single nucleotide variant not provided [RCV000523115] ChrX:123428054 [GRCh38]
ChrX:122561905 [GRCh37]
ChrX:Xq25
uncertain significance
NM_007325.5(GRIA3):c.2497G>A (p.Gly833Arg) single nucleotide variant Mental retardation, X-linked, syndromic, wu type [RCV000011069] ChrX:123482856 [GRCh38]
ChrX:122616707 [GRCh37]
ChrX:Xq25
pathogenic
NM_007325.5(GRIA3):c.1891C>A (p.Arg631Ser) single nucleotide variant Mental retardation, X-linked, syndromic, wu type [RCV000011070] ChrX:123427954 [GRCh38]
ChrX:122561805 [GRCh37]
ChrX:Xq25
pathogenic
NM_007325.5(GRIA3):c.2117T>C (p.Met706Thr) single nucleotide variant Mental retardation, X-linked, syndromic, wu type [RCV000011071] ChrX:123464905 [GRCh38]
ChrX:122598756 [GRCh37]
ChrX:Xq25
pathogenic
GRIA3, 0.4-MB DEL deletion Mental retardation, X-linked, syndromic, wu type [RCV000011072] ChrX:Xq25-q26 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_007325.5(GRIA3):c.2470G>A (p.Val824Met) single nucleotide variant not provided [RCV000522137] ChrX:123482829 [GRCh38]
ChrX:122616680 [GRCh37]
ChrX:Xq25
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq25(chrX:123469532-123590128)x2 copy number gain See cases [RCV000054244] ChrX:123469532..123590128 [GRCh38]
ChrX:122603383..122723979 [GRCh37]
ChrX:122431064..122551660 [NCBI36]
ChrX:Xq25
uncertain significance
NM_007325.5(GRIA3):c.1701C>A (p.Ser567Arg) single nucleotide variant not provided [RCV000079321] ChrX:123417602 [GRCh38]
ChrX:122551453 [GRCh37]
ChrX:Xq25
uncertain significance
NM_007325.5(GRIA3):c.1888G>C (p.Gly630Arg) single nucleotide variant Mental retardation, X-linked, syndromic, wu type [RCV000115024] ChrX:123427951 [GRCh38]
ChrX:122561802 [GRCh37]
ChrX:Xq25
pathogenic
NM_007325.5(GRIA3):c.15G>A (p.Lys5=) single nucleotide variant History of neurodevelopmental disorder [RCV000716867]|not provided [RCV000882979]|not specified [RCV000117155] ChrX:123184550 [GRCh38]
ChrX:122318402 [GRCh37]
ChrX:Xq25
benign|likely benign|conflicting interpretations of pathogenicity
NM_007325.5(GRIA3):c.1200T>C (p.Asn400=) single nucleotide variant History of neurodevelopmental disorder [RCV000715357]|not specified [RCV000117156] ChrX:123403426 [GRCh38]
ChrX:122537277 [GRCh37]
ChrX:Xq25
benign|likely benign
NM_007325.5(GRIA3):c.1501-8T>A single nucleotide variant not provided [RCV000514141]|not specified [RCV000117157] ChrX:123417394 [GRCh38]
ChrX:122551245 [GRCh37]
ChrX:Xq25
benign|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln) single nucleotide variant History of neurodevelopmental disorder [RCV000717973]|Mental retardation, X-linked, syndromic, wu type [RCV000990937]|not provided [RCV000913034]|not specified [RCV000180188] ChrX:123403094 [GRCh38]
ChrX:122536945 [GRCh37]
ChrX:Xq25
benign|likely benign|conflicting interpretations of pathogenicity
NM_007325.5(GRIA3):c.646C>T (p.Arg216Ter) single nucleotide variant not provided [RCV000178131] ChrX:123326163 [GRCh38]
ChrX:122460014 [GRCh37]
ChrX:Xq25
likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000828.4(GRIA3):c.-2G= duplication History of neurodevelopmental disorder [RCV000715223]|not provided [RCV000711850]|not specified [RCV000153339] ChrX:123184533..123184534 [GRCh38]
ChrX:122318386..122318387 [GRCh37]
ChrX:Xq25
benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq25(chrX:123473778-123593934)x2 copy number gain See cases [RCV000134543] ChrX:123473778..123593934 [GRCh38]
ChrX:122607629..122727785 [GRCh37]
ChrX:122435310..122555466 [NCBI36]
ChrX:Xq25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq25(chrX:123196219-123223427)x3 copy number gain See cases [RCV000133985] ChrX:123196219..123223427 [GRCh38]
ChrX:122330071..122357278 [GRCh37]
ChrX:122157752..122184959 [NCBI36]
ChrX:Xq25
uncertain significance
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 copy number gain See cases [RCV000138145] ChrX:117260292..140201321 [GRCh38]
ChrX:116394255..139283477 [GRCh37]
ChrX:116278283..139111143 [NCBI36]
ChrX:Xq23-27.1
pathogenic
GRCh38/hg38 Xq25(chrX:123468978-123583021)x2 copy number gain See cases [RCV000138098] ChrX:123468978..123583021 [GRCh38]
ChrX:122602829..122716872 [GRCh37]
ChrX:122430510..122544553 [NCBI36]
ChrX:Xq25
uncertain significance
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_007325.5(GRIA3):c.268+16757dup duplication Mental retardation, X-linked, syndromic, wu type [RCV000608382]|not specified [RCV000203157] ChrX:123202745..123202746 [GRCh38]
ChrX:122336597..122336598 [GRCh37]
ChrX:Xq25
benign
NM_007325.5(GRIA3):c.162C>T (p.Ala54=) single nucleotide variant not specified [RCV000195146] ChrX:123185884 [GRCh38]
ChrX:122319736 [GRCh37]
ChrX:Xq25
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_007325.5(GRIA3):c.580G>A (p.Gly194Arg) single nucleotide variant Mental retardation, X-linked, syndromic, wu type [RCV000209883] ChrX:123326097 [GRCh38]
ChrX:122459948 [GRCh37]
ChrX:Xq25
likely pathogenic|likely benign
NM_007325.5(GRIA3):c.466T>C (p.Tyr156His) single nucleotide variant Mental retardation, X-linked, syndromic, wu type [RCV000209928] ChrX:123253500 [GRCh38]
ChrX:122387351 [GRCh37]
ChrX:Xq25
likely pathogenic|likely benign
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_007325.5(GRIA3):c.2452G>A (p.Ala818Thr) single nucleotide variant not provided [RCV000520902] ChrX:123482811 [GRCh38]
ChrX:122616662 [GRCh37]
ChrX:Xq25
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_007325.5(GRIA3):c.397G>A (p.Ala133Thr) single nucleotide variant History of neurodevelopmental disorder [RCV000721085]|not provided [RCV000514514]|not specified [RCV000359504] ChrX:123253431 [GRCh38]
ChrX:122387282 [GRCh37]
ChrX:Xq25
likely benign|uncertain significance
NM_007325.5(GRIA3):c.1130G>A (p.Arg377His) single nucleotide variant not provided [RCV000489881] ChrX:123403043 [GRCh38]
ChrX:122536894 [GRCh37]
ChrX:Xq25
uncertain significance
NM_007325.5(GRIA3):c.527C>T (p.Ala176Val) single nucleotide variant Mental retardation, X-linked, syndromic, wu type [RCV000764857]|not provided [RCV000490127] ChrX:123326044 [GRCh38]
ChrX:122459895 [GRCh37]
ChrX:Xq25
uncertain significance
NM_007325.5(GRIA3):c.1502G>C (p.Arg501Thr) single nucleotide variant Inborn genetic diseases [RCV000622505] ChrX:123417403 [GRCh38]
ChrX:122551254 [GRCh37]
ChrX:Xq25
likely pathogenic
NM_007325.5(GRIA3):c.1608_1616del (p.Pro537_Lys539del) deletion not provided [RCV000599581] ChrX:123417505..123417513 [GRCh38]
ChrX:122551356..122551364 [GRCh37]
ChrX:Xq25
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_007325.5(GRIA3):c.1999A>G (p.Ser667Gly) single nucleotide variant not provided [RCV000427441] ChrX:123428062 [GRCh38]
ChrX:122561913 [GRCh37]
ChrX:Xq25
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_007325.5(GRIA3):c.1957G>A (p.Ala653Thr) single nucleotide variant Disrupted sleep-wake cycle with developmental delay and learning difficulty [RCV000579220]|History of neurodevelopmental disorder [RCV000719884]|Mental retardation, X-linked, syndromic, wu type [RCV000990938]|not provided [RCV000426311] ChrX:123428020 [GRCh38]
ChrX:122561871 [GRCh37]
ChrX:Xq25
likely pathogenic|uncertain significance
NM_007325.5(GRIA3):c.2324+645G>A single nucleotide variant GRIA3-Related Disorder [RCV000509420]|not provided [RCV000427181] ChrX:123465757 [GRCh38]
ChrX:122599608 [GRCh37]
ChrX:Xq25
likely pathogenic|not provided
NM_007325.5(GRIA3):c.2116A>C (p.Met706Leu) single nucleotide variant Mental retardation, X-linked, syndromic, wu type [RCV000679995] ChrX:123464904 [GRCh38]
ChrX:122598755 [GRCh37]
ChrX:Xq25
uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25(chrX:122619383-122896336)x3 copy number gain See cases [RCV000448282] ChrX:122619383..122896336 [GRCh37]
ChrX:Xq25
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_007325.5(GRIA3):c.2324+653G>A single nucleotide variant not provided [RCV000486204] ChrX:123465765 [GRCh38]
ChrX:122599616 [GRCh37]
ChrX:Xq25
uncertain significance
NM_007325.5(GRIA3):c.585C>T (p.Asn195=) single nucleotide variant not specified [RCV000503756] ChrX:123326102 [GRCh38]
ChrX:122459953 [GRCh37]
ChrX:Xq25
likely benign
NM_007325.5(GRIA3):c.1964T>C (p.Phe655Ser) single nucleotide variant Mental retardation, X-linked, syndromic, wu type [RCV000496189] ChrX:123428027 [GRCh38]
ChrX:122561878 [GRCh37]
ChrX:Xq25
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_007325.5(GRIA3):c.159T>C (p.Phe53=) single nucleotide variant not provided [RCV000881606]|not specified [RCV000502305] ChrX:123185881 [GRCh38]
ChrX:122319733 [GRCh37]
ChrX:Xq25
benign|likely benign
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq25(chrX:121877550-122445667)x3 copy number gain See cases [RCV000511711] ChrX:121877550..122445667 [GRCh37]
ChrX:Xq25
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_007325.5(GRIA3):c.2321T>C (p.Leu774Ser) single nucleotide variant Inborn genetic diseases [RCV000624569] ChrX:123465109 [GRCh38]
ChrX:122598960 [GRCh37]
ChrX:Xq25
uncertain significance
NM_007325.5(GRIA3):c.1166A>C (p.Lys389Thr) single nucleotide variant not provided [RCV000585447] ChrX:123403079 [GRCh38]
ChrX:122536930 [GRCh37]
ChrX:Xq25
conflicting interpretations of pathogenicity|uncertain significance
NM_007325.5(GRIA3):c.1980G>C (p.Arg660Ser) single nucleotide variant Inborn genetic diseases [RCV000623641] ChrX:123428043 [GRCh38]
ChrX:122561894 [GRCh37]
ChrX:Xq25
uncertain significance
NM_007325.5(GRIA3):c.1940C>T (p.Ser647Phe) single nucleotide variant Inborn genetic diseases [RCV000623912] ChrX:123428003 [GRCh38]
ChrX:122561854 [GRCh37]
ChrX:Xq25
uncertain significance
NM_007325.5(GRIA3):c.2502T>C (p.Gly834=) single nucleotide variant not specified [RCV000614481] ChrX:123482861 [GRCh38]
ChrX:122616712 [GRCh37]
ChrX:Xq25
likely benign
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NM_007325.5(GRIA3):c.159T>G (p.Phe53Leu) single nucleotide variant Inborn genetic diseases [RCV000622531] ChrX:123185881 [GRCh38]
ChrX:122319733 [GRCh37]
ChrX:Xq25
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_007325.5(GRIA3):c.2447C>T (p.Thr816Ile) single nucleotide variant Mental retardation, X-linked, syndromic, wu type [RCV000679971] ChrX:123482806 [GRCh38]
ChrX:122616657 [GRCh37]
ChrX:Xq25
uncertain significance
NM_007325.5(GRIA3):c.2408G>A (p.Gly803Glu) single nucleotide variant Mental retardation, X-linked, syndromic, wu type [RCV000679996] ChrX:123480146 [GRCh38]
ChrX:122613997 [GRCh37]
ChrX:Xq25
uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq25(chrX:122061189-122340944)x2 copy number gain not provided [RCV000684381] ChrX:122061189..122340944 [GRCh37]
ChrX:Xq25
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1 copy number loss not provided [RCV000684380] ChrX:120777368..139345946 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq25(chrX:122252098-123083702)x2 copy number gain not provided [RCV000684382] ChrX:122252098..123083702 [GRCh37]
ChrX:Xq25
uncertain significance
NM_007325.5(GRIA3):c.1440T>C (p.Tyr480=) single nucleotide variant not provided [RCV000711849] ChrX:123404854 [GRCh38]
ChrX:122538705 [GRCh37]
ChrX:Xq25
benign|likely benign
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_007325.5(GRIA3):c.1125T>C (p.Tyr375=) single nucleotide variant History of neurodevelopmental disorder [RCV000718925]|not provided [RCV000915624] ChrX:123403038 [GRCh38]
ChrX:122536889 [GRCh37]
ChrX:Xq25
benign
NM_007325.5(GRIA3):c.2219T>C (p.Met740Thr) single nucleotide variant History of neurodevelopmental disorder [RCV000718995] ChrX:123465007 [GRCh38]
ChrX:122598858 [GRCh37]
ChrX:Xq25
uncertain significance
NM_007325.5(GRIA3):c.1850T>C (p.Met617Thr) single nucleotide variant History of neurodevelopmental disorder [RCV000719314] ChrX:123417751 [GRCh38]
ChrX:122551602 [GRCh37]
ChrX:Xq25
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25(chrX:122367901-122373316)x0 copy number loss not provided [RCV000753751] ChrX:122367901..122373316 [GRCh37]
ChrX:Xq25
benign
GRCh37/hg19 Xq25(chrX:122369317-122373316)x0 copy number loss not provided [RCV000753752] ChrX:122369317..122373316 [GRCh37]
ChrX:Xq25
benign
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_007325.5(GRIA3):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV000762665] ChrX:123184537 [GRCh38]
ChrX:122318389 [GRCh37]
ChrX:Xq25
uncertain significance
NM_007325.5(GRIA3):c.268+16762dup duplication Mental retardation, X-linked, syndromic, wu type [RCV000990936] ChrX:123202748..123202749 [GRCh38]
ChrX:122336600..122336601 [GRCh37]
ChrX:Xq25
benign
GRCh37/hg19 Xq25(chrX:122503175-123124783)x2 copy number gain See cases [RCV000790611] ChrX:122503175..123124783 [GRCh37]
ChrX:Xq25
uncertain significance
GRCh37/hg19 Xq24-26.1(chrX:117119895-129850963)x2 copy number gain not provided [RCV001007336] ChrX:117119895..129850963 [GRCh37]
ChrX:Xq24-26.1
pathogenic
NM_007325.5(GRIA3):c.2323= (p.Arg775=) variation not provided [RCV000948201] ChrX:123465111 [GRCh38]
ChrX:122598962 [GRCh37]
ChrX:Xq25
benign
NM_007325.5(GRIA3):c.390C>T (p.Pro130=) single nucleotide variant not provided [RCV000879524] ChrX:123253424 [GRCh38]
ChrX:122387275 [GRCh37]
ChrX:Xq25
benign
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_007325.5(GRIA3):c.106A>G (p.Ile36Val) single nucleotide variant not provided [RCV000996009] ChrX:123184641 [GRCh38]
ChrX:122318493 [GRCh37]
ChrX:Xq25
uncertain significance
NM_007325.5(GRIA3):c.1609C>G (p.Pro537Ala) single nucleotide variant not provided [RCV000996010] ChrX:123417510 [GRCh38]
ChrX:122551361 [GRCh37]
ChrX:Xq25
uncertain significance
NM_007325.5(GRIA3):c.2324+665_2324+668del deletion not provided [RCV000819240] ChrX:123465777..123465780 [GRCh38]
ChrX:122599628..122599631 [GRCh37]
ChrX:Xq25
uncertain significance
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
NM_007325.5(GRIA3):c.528G>A (p.Ala176=) single nucleotide variant not provided [RCV000900332] ChrX:123326045 [GRCh38]
ChrX:122459896 [GRCh37]
ChrX:Xq25
likely benign
NM_007325.5(GRIA3):c.636G>A (p.Arg212=) single nucleotide variant not provided [RCV000925460] ChrX:123326153 [GRCh38]
ChrX:122460004 [GRCh37]
ChrX:Xq25
likely benign
NM_007325.5(GRIA3):c.933C>T (p.His311=) single nucleotide variant not provided [RCV000920974] ChrX:123398656 [GRCh38]
ChrX:122532507 [GRCh37]
ChrX:Xq25
likely benign
NM_007325.5(GRIA3):c.1158T>C (p.Tyr386=) single nucleotide variant not provided [RCV000918852] ChrX:123403071 [GRCh38]
ChrX:122536922 [GRCh37]
ChrX:Xq25
likely benign
NM_007325.5(GRIA3):c.1772G>A (p.Arg591His) single nucleotide variant not provided [RCV000896561] ChrX:123417673 [GRCh38]
ChrX:122551524 [GRCh37]
ChrX:Xq25
benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_007325.5(GRIA3):c.813G>C (p.Gln271His) single nucleotide variant Mental retardation, X-linked, syndromic, wu type [RCV000790924] ChrX:123395030 [GRCh38]
ChrX:122528881 [GRCh37]
ChrX:Xq25
uncertain significance
GRCh37/hg19 Xq25(chrX:122593596-122896336)x2 copy number gain not provided [RCV000848037] ChrX:122593596..122896336 [GRCh37]
ChrX:Xq25
uncertain significance
GRCh37/hg19 Xq25(chrX:122460513-122510025)x3 copy number gain not provided [RCV000849675] ChrX:122460513..122510025 [GRCh37]
ChrX:Xq25
uncertain significance
NM_007325.5(GRIA3):c.2327C>T (p.Thr776Met) single nucleotide variant Dystonia [RCV001004013]|Epileptic encephalopathy [RCV001004014]|Intellectual disability [RCV000850209] ChrX:123480065 [GRCh38]
ChrX:122613916 [GRCh37]
ChrX:Xq25
pathogenic|likely pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
NM_007325.5(GRIA3):c.2189G>C (p.Gly730Ala) single nucleotide variant Mental retardation, X-linked, syndromic, wu type [RCV000985029] ChrX:123464977 [GRCh38]
ChrX:122598828 [GRCh37]
ChrX:Xq25
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
NM_007325.5(GRIA3):c.2440-5C>T single nucleotide variant not provided [RCV000910964] ChrX:123482794 [GRCh38]
ChrX:122616645 [GRCh37]
ChrX:Xq25
likely benign
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_007325.5(GRIA3):c.1780C>G (p.Gln594Glu) single nucleotide variant not provided [RCV001091710] ChrX:123417681 [GRCh38]
ChrX:122551532 [GRCh37]
ChrX:Xq25
uncertain significance
NM_007325.5(GRIA3):c.40G>A (p.Ala14Thr) single nucleotide variant Inborn genetic diseases [RCV001266612] ChrX:123184575 [GRCh38]
ChrX:122318427 [GRCh37]
ChrX:Xq25
uncertain significance
NM_007325.5(GRIA3):c.2575C>T (p.Leu859Phe) single nucleotide variant Intellectual disability [RCV001260623] ChrX:123482934 [GRCh38]
ChrX:122616785 [GRCh37]
ChrX:Xq25
likely benign
NM_007325.5(GRIA3):c.1348C>T (p.Arg450Ter) single nucleotide variant Intellectual disability [RCV001260624] ChrX:123404762 [GRCh38]
ChrX:122538613 [GRCh37]
ChrX:Xq25
uncertain significance
NM_007325.5(GRIA3):c.1961C>T (p.Ala654Val) single nucleotide variant Global developmental delay [RCV001255420] ChrX:123428024 [GRCh38]
ChrX:122561875 [GRCh37]
ChrX:Xq25
likely pathogenic
NM_007325.5(GRIA3):c.812A>G (p.Gln271Arg) single nucleotide variant Mental retardation, X-linked, syndromic, wu type [RCV001262532] ChrX:123395029 [GRCh38]
ChrX:122528880 [GRCh37]
ChrX:Xq25
uncertain significance
NM_007325.5(GRIA3):c.2098G>A (p.Glu700Lys) single nucleotide variant Neurodevelopmental abnormality [RCV001264709] ChrX:123464886 [GRCh38]
ChrX:122598737 [GRCh37]
ChrX:Xq25
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq25(chrX:122338834-123471785)x2 copy number gain not provided [RCV001259497] ChrX:122338834..123471785 [GRCh37]
ChrX:Xq25
pathogenic
NM_007325.5(GRIA3):c.1952A>G (p.Asn651Ser) single nucleotide variant Inborn genetic diseases [RCV001266022] ChrX:123428015 [GRCh38]
ChrX:122561866 [GRCh37]
ChrX:Xq25
uncertain significance
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xq24-26.1(chrX:117120780-129850994)x3 copy number gain not provided [RCV001259495] ChrX:117120780..129850994 [GRCh37]
ChrX:Xq24-26.1
pathogenic
NM_007325.5(GRIA3):c.1888G>A (p.Gly630Arg) single nucleotide variant Intellectual disability [RCV001260622] ChrX:123427951 [GRCh38]
ChrX:122561802 [GRCh37]
ChrX:Xq25
pathogenic
NM_007325.5(GRIA3):c.1474G>A (p.Gly492Ser) single nucleotide variant Intellectual disability [RCV001260625] ChrX:123404888 [GRCh38]
ChrX:122538739 [GRCh37]
ChrX:Xq25
uncertain significance
NM_007325.5(GRIA3):c.2552G>A (p.Arg851Gln) single nucleotide variant not provided [RCV001288624] ChrX:123482911 [GRCh38]
ChrX:122616762 [GRCh37]
ChrX:Xq25
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_007325.5(GRIA3):c.69G>A (p.Leu23=) single nucleotide variant Mental retardation, X-linked, syndromic, wu type [RCV001330040] ChrX:123184604 [GRCh38]
ChrX:122318456 [GRCh37]
ChrX:Xq25
uncertain significance
NM_007325.5(GRIA3):c.268+16792G>A single nucleotide variant Mental retardation, X-linked, syndromic, wu type [RCV001333569] ChrX:123202782 [GRCh38]
ChrX:122336633 [GRCh37]
ChrX:Xq25
uncertain significance
NM_007325.5(GRIA3):c.1209A>C (p.Glu403Asp) single nucleotide variant Mental retardation, X-linked, syndromic, wu type [RCV001330039] ChrX:123403435 [GRCh38]
ChrX:122537286 [GRCh37]
ChrX:Xq25
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4573 AgrOrtholog
COSMIC GRIA3 COSMIC
Ensembl Genes ENSG00000125675 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000446440 UniProtKB/Swiss-Prot
  ENSP00000478489 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000478758 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000479607 UniProtKB/TrEMBL
  ENSP00000481554 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000481875 UniProtKB/TrEMBL
Ensembl Transcript ENST00000541091 UniProtKB/Swiss-Prot
  ENST00000611689 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000616590 UniProtKB/TrEMBL
  ENST00000620443 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000620581 UniProtKB/TrEMBL
  ENST00000622768 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000125675 GTEx
HGNC ID HGNC:4573 ENTREZGENE
Human Proteome Map GRIA3 Human Proteome Map
InterPro ANF_lig-bd_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glu/Gly-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Iono_rcpt_met UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Iontro_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peripla_BP_I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2892 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2892 ENTREZGENE
OMIM 300699 OMIM
  305915 OMIM
Pfam ANF_receptor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lig_chan UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lig_chan-Glu_bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB GRIA3 RGD, PharmGKB
PRINTS NMDARECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Lig_chan-Glu_bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PBPe UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53822 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WYJ6_HUMAN UniProtKB/TrEMBL
  GRIA3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q17R51_HUMAN UniProtKB/TrEMBL
  Q5XKG2 ENTREZGENE, UniProtKB/TrEMBL
  Q9P0H2_HUMAN UniProtKB/TrEMBL
UniProt Secondary D3DTF1 UniProtKB/Swiss-Prot
  Q4VXD5 UniProtKB/Swiss-Prot
  Q4VXD6 UniProtKB/Swiss-Prot
  Q9HDA0 UniProtKB/Swiss-Prot
  Q9HDA1 UniProtKB/Swiss-Prot
  Q9HDA2 UniProtKB/Swiss-Prot
  Q9P0H1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 GRIA3  glutamate ionotropic receptor AMPA type subunit 3    glutamate receptor, ionotropic, AMPA 3  Symbol and/or name change 5135510 APPROVED
2012-02-14 GRIA3  glutamate receptor, ionotropic, AMPA 3  GRIA3  glutamate receptor, ionotrophic, AMPA 3  Symbol and/or name change 5135510 APPROVED
2011-08-16 GRIA3  glutamate receptor, ionotrophic, AMPA 3  GRIA3  glutamate receptor, ionotrophic, AMPA 3  Symbol and/or name change 5135510 APPROVED