FMR1 (FMRP translational regulator 1) - Rat Genome Database

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Gene: FMR1 (FMRP translational regulator 1) Homo sapiens
Analyze
Symbol: FMR1
Name: FMRP translational regulator 1
RGD ID: 735919
HGNC Page HGNC
Description: Exhibits several functions, including RNA binding activity; ion channel binding activity; and protein dimerization activity. Involved in several processes, including modulation by host of viral RNA genome replication; positive regulation of macromolecule metabolic process; and regulation of gene expression. Localizes to several cellular components, including messenger ribonucleoprotein complex; nuclear lumen; and perikaryon. Colocalizes with SMN complex. Implicated in fragile X syndrome; fragile X-associated tremor/ataxia syndrome; and primary ovarian insufficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FMR-1; FMRP; fragile site, folic acid type, rare, fra(X)(q27.3), (macroorchidism, mental retardation); fragile X mental retardation 1; fragile X mental retardation 1 protein; fragile X mental retardation protein 1; fragile x mental retardation syndrome 1 homolog; FRAXA; FRAXA; MGC87458; POF; POF1; premature ovarian failure 1; synaptic functional regulator FMR1; truncated FMRP
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 EnsemblX147,911,919 - 147,951,125 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX147,911,951 - 147,951,125 (+)EnsemblGRCh38hg38GRCh38
GRCh38X147,911,919 - 147,951,125 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X146,993,437 - 147,032,645 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X146,801,201 - 146,840,303 (+)NCBINCBI36hg18NCBI36
Build 34X146,699,054 - 146,738,157NCBI
CeleraX147,345,446 - 147,384,585 (+)NCBI
Cytogenetic MapXq27.3NCBI
HuRefX135,963,879 - 135,993,282 (+)NCBIHuRef
CHM1_1X146,904,323 - 146,943,501 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-3,5-dihydroxyphenylglycine  (ISO)
1,2-dimethylhydrazine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2-arachidonoylglycerol  (ISO)
2-methyl-6-(phenylethynyl)pyridine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-vinylcyclohexene dioxide  (ISO)
acamprosate  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
aminomalonic acid  (EXP)
arsenite(3-)  (EXP)
benzo[a]pyrene  (ISO)
benzo[b]fluoranthene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bortezomib  (EXP)
carbonyl cyanide p-trifluoromethoxyphenylhydrazone  (EXP)
chrysene  (ISO)
cocaine  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (ISO)
cycloheximide  (EXP)
cyclosporin A  (EXP)
D-glucitol  (EXP)
D-threitol  (EXP)
DDE  (ISO)
dibutyl phthalate  (ISO)
dimethyl sulfoxide  (EXP)
ebselen  (EXP)
epoxiconazole  (ISO)
ethanol  (EXP)
folic acid  (EXP,ISO)
furan  (ISO)
hydroxyl  (EXP)
L-ascorbic acid  (EXP)
lead diacetate  (ISO)
linuron  (ISO)
menadione  (ISO)
methoxychlor  (ISO)
minocycline  (ISO)
N-acetyl-L-cysteine  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
nickel sulfate  (EXP)
pentachlorophenol  (ISO)
perfluorooctane-1-sulfonic acid  (EXP)
phenytoin  (ISO)
poly(I:C)  (ISO)
potassium chloride  (ISO)
potassium chromate  (EXP)
prochloraz  (ISO)
procymidone  (ISO)
quercetin  (EXP)
resveratrol  (ISO)
rimonabant  (ISO)
superoxide  (EXP)
suramin  (ISO)
tamoxifen  (ISO)
tetrahydropalmatine  (EXP)
tetraphene  (ISO)
threitol  (EXP)
threonic acid  (EXP)
trichostatin A  (EXP)
triptonide  (ISO)
urethane  (EXP)
vigabatrin  (ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
anterograde axonal transport  (ISO)
cellular response to DNA damage stimulus  (IDA)
cellular response to hydroxyurea  (ISS)
cellular response to monosodium glutamate  (ISO)
cellular response to potassium ion  (ISO)
cellular response to UV  (ISS)
cellular response to virus  (IDA)
central nervous system development  (ISO)
dendritic spine development  (ISO)
detection of mechanical stimulus involved in sensory perception  (ISO)
gene silencing by RNA  (IEA)
glutamate receptor signaling pathway  (ISS)
modulation by host of viral RNA genome replication  (IMP)
mRNA processing  (IEA)
mRNA transport  (ISS)
negative regulation of cytoplasmic translation  (ISS)
negative regulation of gene expression  (ISO)
negative regulation of long-term synaptic depression  (ISS)
negative regulation of mRNA catabolic process  (IMP)
negative regulation of neuron apoptotic process  (ISO)
negative regulation of neuron differentiation  (ISO)
negative regulation of protein processing  (ISO)
negative regulation of receptor internalization  (ISO)
negative regulation of synaptic vesicle exocytosis  (ISS)
negative regulation of translation  (IBA)
negative regulation of translational initiation  (ISS)
negative regulation of voltage-gated calcium channel activity  (ISS)
nervous system development  (IEA)
ovarian follicle development  (ISO)
positive regulation of dendritic spine development  (ISS)
positive regulation of filopodium assembly  (ISS)
positive regulation of gene expression  (ISO)
positive regulation of gene silencing by miRNA  (IDA)
positive regulation of histone phosphorylation  (IDA)
positive regulation of intracellular transport of viral material  (IMP)
positive regulation of long-term neuronal synaptic plasticity  (ISO)
positive regulation of long-term synaptic depression  (ISO)
positive regulation of long-term synaptic potentiation  (ISO)
positive regulation of mRNA binding  (IDA)
positive regulation of proteasomal protein catabolic process  (ISS)
positive regulation of protein phosphorylation  (IBA,ISO)
positive regulation of receptor internalization  (IDA)
positive regulation of response to DNA damage stimulus  (IBA,IDA)
positive regulation of synaptic transmission  (ISO)
positive regulation of translation  (IBA,IDA)
regulation of alternative mRNA splicing, via spliceosome  (IBA,IDA)
regulation of dendritic spine development  (IDA)
regulation of filopodium assembly  (IBA,IDA)
regulation of gene silencing by miRNA  (IMP)
regulation of modification of synaptic structure  (ISO)
regulation of mRNA stability  (IBA,ISS)
regulation of neuronal action potential  (IDA,ISO)
regulation of neurotransmitter secretion  (ISS)
regulation of translation  (IEA)
regulation of translation at postsynapse, modulating synaptic transmission  (ISO)
regulation of translation at presynapse, modulating synaptic transmission  (ISO)
response to activity  (ISO)
response to cocaine  (ISO)
response to electrical stimulus  (ISO)
response to gonadotropin  (ISO)
response to interleukin-1  (ISO)
response to light stimulus  (ISO)
RNA splicing  (IEA)
viral process  (IEA)

Cellular Component
axon  (IBA,ISO,ISS)
axon terminus  (ISS)
Cajal body  (IDA,IEA)
cell body  (ISO)
cell projection  (IDA)
chromocenter  (ISS)
chromosome  (ISS)
chromosome, centromeric region  (IEA)
cytoplasm  (IDA,IEA,TAS)
cytoplasmic ribonucleoprotein granule  (IBA,IDA)
cytoplasmic stress granule  (IEA,ISO)
cytosol  (IDA,ISO)
dendrite  (ISO,ISS)
dendritic filopodium  (IBA,ISO,ISS)
dendritic spine  (IBA,IEA,ISS)
dendritic spine head  (ISO)
dendritic spine neck  (IBA,ISO)
extrinsic component of plasma membrane  (ISS)
filopodium tip  (IEA,ISS)
glial cell projection  (ISS)
glutamatergic synapse  (ISO)
growth cone  (IBA,IDA,IEA)
growth cone filopodium  (ISS)
hippocampal mossy fiber to CA3 synapse  (ISO)
membrane  (HDA,IBA)
messenger ribonucleoprotein complex  (IDA)
microtubule cytoskeleton  (ISO)
mRNA cap binding complex  (ISS)
neuron projection  (IDA,ISO)
neuronal cell body  (IBA,ISO)
neuronal ribonucleoprotein granule  (ISO,ISS)
nucleolus  (IDA,IEA,TAS)
nucleoplasm  (IDA,ISO)
nucleus  (IBA,IDA,ISO,ISS)
perikaryon  (IDA,IEA,ISO,ISS)
perinuclear region of cytoplasm  (IDA,IEA,ISO)
plasma membrane  (IEA)
polysomal ribosome  (TAS)
polysome  (IBA,IDA,ISO,ISS)
postsynapse  (ISS)
postsynaptic cytosol  (ISO)
postsynaptic density  (IBA,ISS)
postsynaptic membrane  (IEA)
presynapse  (IBA,ISS)
presynaptic cytosol  (ISO)
presynaptic membrane  (IEA)
proximal dendrite  (ISO)
ribonucleoprotein complex  (IDA)
rough endoplasmic reticulum  (ISO)
Schaffer collateral - CA1 synapse  (ISO)
SMN complex  (IDA,ISO)
smooth endoplasmic reticulum  (ISO)
spine apparatus  (ISO)
synapse  (ISS)
terminal bouton  (ISO)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal autonomic nervous system physiology  (IAGP)
Abnormal brainstem morphology  (IAGP)
Abnormal head movements  (IAGP)
Abnormality of metabolism/homeostasis  (IAGP)
Adult onset  (IAGP)
Anxiety  (IAGP)
Ascending tubular aorta aneurysm  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Bowel incontinence  (IAGP)
Bradykinesia  (IAGP)
Bulbous nose  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
Chronic otitis media  (IAGP)
Coarse facial features  (IAGP)
Congenital macroorchidism  (IAGP)
Cryptorchidism  (IAGP)
Decreased testicular size  (IAGP)
Deeply set eye  (IAGP)
Delayed skeletal maturation  (IAGP)
Dementia  (IAGP)
Depressivity  (IAGP)
Diffuse cerebellar atrophy  (IAGP)
Diffuse cerebral atrophy  (IAGP)
Disinhibition  (IAGP)
Dysarthria  (IAGP)
Dysdiadochokinesis  (IAGP)
Dysesthesia  (IAGP)
Dysmetria  (IAGP)
Dysphagia  (IAGP)
Failure to thrive  (IAGP)
Folate-dependent fragile site at Xq28  (IAGP)
Frontal bossing  (IAGP)
Gait ataxia  (IAGP)
Gastroesophageal reflux  (IAGP)
Global developmental delay  (IAGP)
Gynecomastia  (IAGP)
Hearing impairment  (IAGP)
High pitched voice  (IAGP)
Hyperactivity  (IAGP)
Hypertension  (IAGP)
Hypogonadism  (IAGP)
Hyporeflexia  (IAGP)
Hypotension  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Impaired distal vibration sensation  (IAGP)
Impaired tandem gait  (IAGP)
Impotence  (IAGP)
Incomplete penetrance  (IAGP)
Increased circulating gonadotropin level  (IAGP)
Inertia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, moderate  (IAGP)
Intention tremor  (IAGP)
Intrauterine growth retardation  (IAGP)
Irregular menstruation  (IAGP)
Joint laxity  (IAGP)
Large forehead  (IAGP)
Long face  (IAGP)
Macrocephaly  (IAGP)
Macroorchidism  (IAGP)
Macroorchidism, postpubertal  (IAGP)
Macrotia  (IAGP)
Mandibular prognathia  (IAGP)
Mask-like facies  (IAGP)
Memory impairment  (IAGP)
Mitral valve prolapse  (IAGP)
Muscle weakness  (IAGP)
Myalgia  (IAGP)
Narrow face  (IAGP)
Neurological speech impairment  (IAGP)
Nystagmus  (IAGP)
Obsessive-compulsive behavior  (IAGP)
Obsessive-compulsive trait  (IAGP)
Parkinsonism  (IAGP)
Pectus excavatum  (IAGP)
Periventricular heterotopia  (IAGP)
Pes planus  (IAGP)
Pollakisuria  (IAGP)
Poor eye contact  (IAGP)
Poor fine motor coordination  (IAGP)
Postural tremor  (IAGP)
Premature ovarian insufficiency  (IAGP)
Protruding ear  (IAGP)
Resting tremor  (IAGP)
Rigidity  (IAGP)
Saccadic smooth pursuit  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Short foot  (IAGP)
Short stature  (IAGP)
Sinusitis  (IAGP)
Small hand  (IAGP)
Sparse body hair  (IAGP)
Strabismus  (IAGP)
Thin vermilion border  (IAGP)
Truncal obesity  (IAGP)
Urinary bladder sphincter dysfunction  (IAGP)
Urinary incontinence  (IAGP)
X-linked dominant inheritance  (IAGP)
X-linked inheritance  (IAGP)
References

References - curated
1. Bernard PB, etal., Neurobiol Dis. 2013 Nov;59:1-17. doi: 10.1016/j.nbd.2013.06.013. Epub 2013 Jul 2.
2. Berzhanskaya J, etal., Sci Rep. 2016 Jul 28;6:30769. doi: 10.1038/srep30769.
3. Caffino L, etal., Neurotox Res. 2014 Oct;26(3):299-306. doi: 10.1007/s12640-014-9472-1. Epub 2014 May 9.
4. Engineer CT, etal., Brain Res. 2014 May 20;1564:72-84. doi: 10.1016/j.brainres.2014.03.049. Epub 2014 Apr 5.
5. GOA_HUMAN data from the GO Consortium
6. Golden CEM, etal., Cereb Cortex. 2019 May 1;29(5):2228-2244. doi: 10.1093/cercor/bhz029.
7. Hamilton SM, etal., Behav Neurosci. 2014 Apr;128(2):103-9. doi: 10.1037/a0035988.
8. Hoffman GE, etal., J Histochem Cytochem. 2012 Jun;60(6):439-56. doi: 10.1369/0022155412441002. Epub 2012 Apr 2.
9. Huber KM, etal., Proc Natl Acad Sci U S A. 2002 May 28;99(11):7746-50.
10. Jeon SJ, etal., J Neurochem. 2012 Oct;123(2):226-38. doi: 10.1111/j.1471-4159.2012.07886.x. Epub 2012 Aug 22.
11. Kim SH, etal., J Neurosci. 2006 Mar 1;26(9):2413-8.
12. Kremer EJ, etal., Science. 1991 Jun 21;252(5013):1711-4.
13. OMIM Disease Annotation Pipeline
14. Online Mendelian Inheritance in Man, OMIM (TM).
15. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
16. RGD automated import pipeline for gene-chemical interactions
17. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
18. Tian Y, etal., Front Mol Neurosci. 2017 Aug 28;10:269. doi: 10.3389/fnmol.2017.00269. eCollection 2017.
19. Van Dam D, etal., Behav Brain Res. 2005 Jul 30;162(2):233-9.
20. Zhou Z, etal., Cell Host Microbe. 2020 Jun 10;27(6):883-890.e2. doi: 10.1016/j.chom.2020.04.017. Epub 2020 May 4.
Additional References at PubMed
PMID:1572655   PMID:1642231   PMID:1710175   PMID:1757956   PMID:1913811   PMID:2988332   PMID:7141005   PMID:7489725   PMID:7633450   PMID:7670500   PMID:7688265   PMID:7692601  
PMID:7781595   PMID:7825604   PMID:8069307   PMID:8069329   PMID:8095365   PMID:8156595   PMID:8348153   PMID:8358432   PMID:8401496   PMID:8401531   PMID:8401578   PMID:8490650  
PMID:8504300   PMID:8515814   PMID:8528261   PMID:8668200   PMID:8789445   PMID:9302998   PMID:9375856   PMID:9497258   PMID:9659908   PMID:9829913   PMID:10398250   PMID:10496225  
PMID:10527928   PMID:10556305   PMID:10567518   PMID:10729312   PMID:10888599   PMID:11119302   PMID:11129329   PMID:11142760   PMID:11142761   PMID:11157796   PMID:11162447   PMID:11256870  
PMID:11367701   PMID:11415517   PMID:11438699   PMID:11443541   PMID:11445641   PMID:11545690   PMID:11840495   PMID:11854169   PMID:11897823   PMID:11992259   PMID:12107447   PMID:12112763  
PMID:12116230   PMID:12116303   PMID:12147688   PMID:12210320   PMID:12232854   PMID:12378270   PMID:12388589   PMID:12417734   PMID:12477932   PMID:12515381   PMID:12529854   PMID:12594214  
PMID:12596051   PMID:12745094   PMID:12810982   PMID:12837692   PMID:12927206   PMID:12950170   PMID:14570712   PMID:14599277   PMID:14746957   PMID:14747503   PMID:14755444   PMID:14993603  
PMID:15000256   PMID:15065016   PMID:15096575   PMID:15121898   PMID:15146197   PMID:15175277   PMID:15282548   PMID:15300658   PMID:15303970   PMID:15377638   PMID:15380484   PMID:15381024  
PMID:15381419   PMID:15483045   PMID:15483640   PMID:15563507   PMID:15608041   PMID:15617547   PMID:15629215   PMID:15642922   PMID:15659577   PMID:15696166   PMID:15741991   PMID:15742217  
PMID:15805463   PMID:15861180   PMID:15879417   PMID:15929093   PMID:15930016   PMID:15950084   PMID:15956167   PMID:15971024   PMID:16006558   PMID:16049924   PMID:16055059   PMID:16078053  
PMID:16117724   PMID:16161415   PMID:16184602   PMID:16271017   PMID:16319129   PMID:16337617   PMID:16361284   PMID:16407062   PMID:16456258   PMID:16500716   PMID:16500891   PMID:16508954  
PMID:16571602   PMID:16631377   PMID:16636078   PMID:16708166   PMID:16793928   PMID:16819831   PMID:16891414   PMID:16905681   PMID:16907702   PMID:17044853   PMID:17057366   PMID:17097142  
PMID:17101793   PMID:17179750   PMID:17196195   PMID:17283214   PMID:17290448   PMID:17417632   PMID:17506288   PMID:17548778   PMID:17588953   PMID:17620491   PMID:17674408   PMID:17714511  
PMID:17850748   PMID:17881655   PMID:17917121   PMID:17922850   PMID:17932962   PMID:17962727   PMID:17966892   PMID:17978095   PMID:18057083   PMID:18057320   PMID:18074381   PMID:18093976  
PMID:18163424   PMID:18165971   PMID:18172867   PMID:18181681   PMID:18211155   PMID:18225979   PMID:18273822   PMID:18310361   PMID:18310677   PMID:18323308   PMID:18357616   PMID:18373410  
PMID:18384775   PMID:18384784   PMID:18403614   PMID:18412117   PMID:18413472   PMID:18427356   PMID:18471319   PMID:18472033   PMID:18487560   PMID:18535897   PMID:18553360   PMID:18565783  
PMID:18570292   PMID:18583885   PMID:18628788   PMID:18630123   PMID:18632687   PMID:18653529   PMID:18656952   PMID:18664458   PMID:18687789   PMID:18789568   PMID:18922172   PMID:18936162  
PMID:18973899   PMID:19005212   PMID:19026394   PMID:19041959   PMID:19056494   PMID:19097999   PMID:19105204   PMID:19116286   PMID:19147914   PMID:19155329   PMID:19166269   PMID:19193898  
PMID:19197218   PMID:19204162   PMID:19211207   PMID:19215057   PMID:19235102   PMID:19249802   PMID:19265746   PMID:19273535   PMID:19341325   PMID:19361583   PMID:19367323   PMID:19396385  
PMID:19422761   PMID:19436069   PMID:19481741   PMID:19487368   PMID:19525339   PMID:19542082   PMID:19574928   PMID:19574929   PMID:19619908   PMID:19642041   PMID:19712568   PMID:19728537  
PMID:19760650   PMID:19764037   PMID:19778484   PMID:19794313   PMID:19796183   PMID:19804849   PMID:19805454   PMID:19806593   PMID:19810826   PMID:19853235   PMID:19863547   PMID:19864489  
PMID:19908235   PMID:19927162   PMID:19946888   PMID:20047076   PMID:20059484   PMID:20082462   PMID:20118148   PMID:20141036   PMID:20149747   PMID:20168238   PMID:20187721   PMID:20221430  
PMID:20228389   PMID:20298211   PMID:20301558   PMID:20362512   PMID:20378415   PMID:20398889   PMID:20410144   PMID:20431035   PMID:20435064   PMID:20442204   PMID:20473314   PMID:20537351  
PMID:20562859   PMID:20573435   PMID:20597902   PMID:20616364   PMID:20629912   PMID:20727716   PMID:20734064   PMID:20816038   PMID:20843831   PMID:20938029   PMID:20955631   PMID:20961665  
PMID:20981777   PMID:21047554   PMID:21116185   PMID:21179569   PMID:21182205   PMID:21209411   PMID:21254619   PMID:21254876   PMID:21270637   PMID:21276648   PMID:21295394   PMID:21335413  
PMID:21389081   PMID:21427756   PMID:21443343   PMID:21445959   PMID:21446998   PMID:21478165   PMID:21484870   PMID:21526209   PMID:21554789   PMID:21567456   PMID:21576079   PMID:21596781  
PMID:21597380   PMID:21630353   PMID:21639881   PMID:21642970   PMID:21651511   PMID:21723415   PMID:21749915   PMID:21767618   PMID:21771594   PMID:21775729   PMID:21785977   PMID:21786216  
PMID:21818263   PMID:21868366   PMID:21873635   PMID:21903422   PMID:21909353   PMID:21932336   PMID:21944929   PMID:21969264   PMID:22001913   PMID:22022567   PMID:22080836   PMID:22101959  
PMID:22102001   PMID:22157911   PMID:22161987   PMID:22207187   PMID:22210492   PMID:22211843   PMID:22235103   PMID:22251309   PMID:22266345   PMID:22351071   PMID:22357842   PMID:22387066  
PMID:22430918   PMID:22438971   PMID:22489017   PMID:22493044   PMID:22498846   PMID:22507827   PMID:22528549   PMID:22539853   PMID:22561129   PMID:22568721   PMID:22573456   PMID:22579290  
PMID:22581803   PMID:22584570   PMID:22586326   PMID:22619118   PMID:22658674   PMID:22681889   PMID:22708486   PMID:22737234   PMID:22797890   PMID:22811313   PMID:22842191   PMID:22863780  
PMID:22880518   PMID:22887750   PMID:22890812   PMID:22903700   PMID:22914733   PMID:22924671   PMID:22963248   PMID:22984553   PMID:22993428   PMID:23009394   PMID:23060046   PMID:23084401  
PMID:23111161   PMID:23123760   PMID:23146966   PMID:23154068   PMID:23198693   PMID:23211703   PMID:23219959   PMID:23235829   PMID:23266944   PMID:23298734   PMID:23307923   PMID:23313071  
PMID:23356558   PMID:23373759   PMID:23390134   PMID:23392687   PMID:23414517   PMID:23504400   PMID:23523717   PMID:23527791   PMID:23528734   PMID:23537988   PMID:23560306   PMID:23660422  
PMID:23683082   PMID:23703681   PMID:23731704   PMID:23739124   PMID:23740716   PMID:23753897   PMID:23760159   PMID:23786467   PMID:23824909   PMID:23838275   PMID:23867198   PMID:23874213  
PMID:23896050   PMID:23948096   PMID:23949867   PMID:23979707   PMID:24003006   PMID:24028275   PMID:24045061   PMID:24065114   PMID:24092663   PMID:24141422   PMID:24184744   PMID:24204304  
PMID:24207117   PMID:24249225   PMID:24261641   PMID:24281364   PMID:24289922   PMID:24332449   PMID:24398265   PMID:24419320   PMID:24423935   PMID:24428240   PMID:24452737   PMID:24457600  
PMID:24462888   PMID:24463622   PMID:24514761   PMID:24521091   PMID:24578575   PMID:24591415   PMID:24612675   PMID:24658146   PMID:24718368   PMID:24722188   PMID:24727796   PMID:24743386  
PMID:24773414   PMID:24778252   PMID:24787137   PMID:24812319   PMID:24813610   PMID:24814676   PMID:24838064   PMID:24875300   PMID:24876161   PMID:24903624   PMID:24912415   PMID:24936518  
PMID:24938362   PMID:24958193   PMID:24981860   PMID:25019151   PMID:25036526   PMID:25050920   PMID:25055869   PMID:25071155   PMID:25153074   PMID:25171808   PMID:25180401   PMID:25225333  
PMID:25268320   PMID:25307758   PMID:25346430   PMID:25358671   PMID:25358783   PMID:25399540   PMID:25416280   PMID:25416956   PMID:25418717   PMID:25445105   PMID:25464849   PMID:25541421  
PMID:25561520   PMID:25579682   PMID:25636091   PMID:25689687   PMID:25692235   PMID:25693804   PMID:25693964   PMID:25701550   PMID:25720964   PMID:25763861   PMID:25792692   PMID:25796179  
PMID:25809302   PMID:25847585   PMID:25913861   PMID:25921289   PMID:25925982   PMID:25954027   PMID:25966634   PMID:26002199   PMID:26048669   PMID:26065250   PMID:26095802   PMID:26095811  
PMID:26125897   PMID:26174939   PMID:26186194   PMID:26194536   PMID:26209748   PMID:26239490   PMID:26281226   PMID:26300270   PMID:26344197   PMID:26374839   PMID:26393489   PMID:26393806  
PMID:26409477   PMID:26496610   PMID:26554012   PMID:26558778   PMID:26600526   PMID:26609701   PMID:26612855   PMID:26638075   PMID:26716517   PMID:26741412   PMID:26776484   PMID:26777405  
PMID:26855684   PMID:26880065   PMID:26895548   PMID:26905421   PMID:26949251   PMID:26949739   PMID:26963595   PMID:26972000   PMID:27013081   PMID:27102723   PMID:27189053   PMID:27193037  
PMID:27233938   PMID:27303792   PMID:27313903   PMID:27333191   PMID:27335370   PMID:27350105   PMID:27355445   PMID:27378697   PMID:27378784   PMID:27427765   PMID:27432256   PMID:27462983  
PMID:27518042   PMID:27577204   PMID:27591049   PMID:27609421   PMID:27614355   PMID:27634302   PMID:27643955   PMID:27683117   PMID:27683920   PMID:27684187   PMID:27695106   PMID:27696273  
PMID:27708271   PMID:27713816   PMID:27730449   PMID:27784894   PMID:27816231   PMID:27840045   PMID:27916452   PMID:27959330   PMID:27984619   PMID:27995424   PMID:28065649   PMID:28073926  
PMID:28139839   PMID:28173181   PMID:28176767   PMID:28222427   PMID:28278294   PMID:28302793   PMID:28391068   PMID:28407408   PMID:28424484   PMID:28454580   PMID:28476762   PMID:28514442  
PMID:28612854   PMID:28617938   PMID:28621425   PMID:28695742   PMID:28700943   PMID:28719003   PMID:28815939   PMID:28818679   PMID:28823556   PMID:28826600   PMID:28826631   PMID:28887386  
PMID:28888471   PMID:28895261   PMID:28941155   PMID:28977470   PMID:28977666   PMID:29128334   PMID:29142209   PMID:29144507   PMID:29209628   PMID:29223504   PMID:29319541   PMID:29325626  
PMID:29346117   PMID:29395067   PMID:29420262   PMID:29428901   PMID:29456084   PMID:29527483   PMID:29560723   PMID:29590342   PMID:29595813   PMID:29603880   PMID:29604051   PMID:29606348  
PMID:29641417   PMID:29747568   PMID:29802200   PMID:29846670   PMID:29926373   PMID:30021884   PMID:30030199   PMID:30068571   PMID:30072797   PMID:30080293   PMID:30107092   PMID:30153395  
PMID:30196744   PMID:30217970   PMID:30361391   PMID:30396881   PMID:30425250   PMID:30471916   PMID:30503263   PMID:30511641   PMID:30576349   PMID:30665341   PMID:30686771   PMID:30711457  
PMID:30711710   PMID:30771487   PMID:30804502   PMID:30940648   PMID:30948266   PMID:30959842   PMID:30997501   PMID:31048545   PMID:31050164   PMID:31091453   PMID:31096929   PMID:31112584  
PMID:31161414   PMID:31180492   PMID:31239290   PMID:31281495   PMID:31348790   PMID:31352801   PMID:31413325   PMID:31439799   PMID:31586073   PMID:31625034   PMID:31653898   PMID:31753913  
PMID:31753916   PMID:31765665   PMID:31801077   PMID:31822816   PMID:31887710   PMID:31891607   PMID:31935509   PMID:31957854   PMID:32012997   PMID:32026885   PMID:32096109   PMID:32101156  
PMID:32111011   PMID:32144408   PMID:32179589   PMID:32296183   PMID:32343993   PMID:32377997   PMID:32446918   PMID:32483686   PMID:32533363   PMID:32552710   PMID:32632326   PMID:32780723  
PMID:32838362   PMID:32877691   PMID:32878499   PMID:32921299   PMID:32945655   PMID:32958647   PMID:32970791   PMID:32976839   PMID:33007370   PMID:33181255   PMID:33420492  


Genomics

Comparative Map Data
FMR1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX147,911,919 - 147,951,125 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX147,911,951 - 147,951,125 (+)EnsemblGRCh38hg38GRCh38
GRCh38X147,911,919 - 147,951,125 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X146,993,437 - 147,032,645 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X146,801,201 - 146,840,303 (+)NCBINCBI36hg18NCBI36
Build 34X146,699,054 - 146,738,157NCBI
CeleraX147,345,446 - 147,384,585 (+)NCBI
Cytogenetic MapXq27.3NCBI
HuRefX135,963,879 - 135,993,282 (+)NCBIHuRef
CHM1_1X146,904,323 - 146,943,501 (+)NCBICHM1_1
Fmr1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X67,722,142 - 67,761,569 (+)NCBIGRCm39mm39
GRCm39 EnsemblX67,722,147 - 67,761,569 (+)Ensembl
GRCm38X68,678,536 - 68,717,963 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX68,678,541 - 68,717,963 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X65,931,730 - 65,971,138 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X51,835,932 - 51,875,340 (+)NCBImm8
MGSCv36X64,939,220 - 64,978,628 (+)NCBImm8
Cytogenetic MapXA7.1NCBI
cM MapX34.83NCBI
Fmr1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X147,240,239 - 147,278,057 (+)NCBI
Rnor_6.0 EnsemblX154,684,935 - 154,722,314 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X154,684,924 - 154,722,369 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01150,408,220 - 150,445,658 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X154,756,031 - 154,793,782 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X154,829,463 - 154,867,215 (+)NCBI
Celera1134,092,390 - 134,130,141 (-)NCBICelera
Cytogenetic MapXq37NCBI
Fmr1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955498566,688 - 595,360 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955498566,741 - 594,837 (+)NCBIChiLan1.0ChiLan1.0
FMR1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X147,366,713 - 147,405,327 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX147,365,748 - 147,405,321 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X136,937,889 - 136,976,828 (+)NCBIMhudiblu_PPA_v0panPan3
FMR1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X116,249,079 - 116,287,008 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX116,249,142 - 116,321,439 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX102,141,952 - 102,179,858 (+)NCBI
ROS_Cfam_1.0X118,308,237 - 118,346,144 (+)NCBI
UMICH_Zoey_3.1X115,421,122 - 115,459,027 (+)NCBI
UNSW_CanFamBas_1.0X117,632,687 - 117,670,590 (+)NCBI
UU_Cfam_GSD_1.0X117,359,050 - 117,396,958 (+)NCBI
Fmr1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X114,286,773 - 114,324,847 (+)NCBI
SpeTri2.0NW_0049365131,290,038 - 1,327,850 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FMR1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX120,361,229 - 120,399,835 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X120,361,232 - 120,400,282 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X137,792,642 - 137,831,753 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FMR1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X122,635,383 - 122,674,298 (+)NCBI
ChlSab1.1 EnsemblX122,635,439 - 122,674,355 (+)Ensembl
Fmr1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624883645,524 - 681,705 (+)NCBI

Position Markers
GDB:190037  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X147,030,670 - 147,031,397UniSTSGRCh37
Build 36X146,838,362 - 146,839,089RGDNCBI36
CeleraX147,382,608 - 147,383,335RGD
Cytogenetic MapXq27.3UniSTS
HuRefX135,991,305 - 135,992,032UniSTS
G49466  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X146,998,965 - 146,999,265UniSTSGRCh37
Build 36X146,806,657 - 146,806,957RGDNCBI36
CeleraX147,350,905 - 147,351,205RGD
Cytogenetic MapXq27.3UniSTS
HuRefX135,959,393 - 135,959,693UniSTS
L23971  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X147,030,787 - 147,030,967UniSTSGRCh37
Build 36X146,838,479 - 146,838,659RGDNCBI36
CeleraX147,382,725 - 147,382,905RGD
HuRefX135,991,422 - 135,991,602UniSTS
GDB:181087  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X147,005,926 - 147,006,074UniSTSGRCh37
Build 36X146,813,618 - 146,813,766RGDNCBI36
CeleraX147,357,868 - 147,358,018RGD
Cytogenetic MapXq27.3UniSTS
GDB:187391  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X146,993,448 - 146,993,728UniSTSGRCh37
Build 36X146,801,140 - 146,801,420RGDNCBI36
CeleraX147,345,425 - 147,345,668RGD
Cytogenetic MapXq27.3UniSTS
GDB:342153  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X146,993,373 - 146,993,477UniSTSGRCh37
Build 36X146,801,065 - 146,801,169RGDNCBI36
CeleraX147,345,350 - 147,345,454RGD
Cytogenetic MapXq27.3UniSTS
GDB:342159  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X146,993,630 - 146,993,728UniSTSGRCh37
Build 36X146,801,322 - 146,801,420RGDNCBI36
CeleraX147,345,570 - 147,345,668RGD
Cytogenetic MapXq27.3UniSTS
GDB:370773  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X147,013,956 - 147,014,250UniSTSGRCh37
Build 36X146,821,648 - 146,821,942RGDNCBI36
CeleraX147,365,899 - 147,366,193RGD
Cytogenetic MapXq27.3UniSTS
HuRefX135,974,750 - 135,975,044UniSTS
GDB:373842  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X146,993,313 - 146,993,728UniSTSGRCh37
Build 36X146,801,005 - 146,801,420RGDNCBI36
CeleraX147,345,290 - 147,345,668RGD
Cytogenetic MapXq27.3UniSTS
GDB:374079  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X146,993,373 - 146,993,773UniSTSGRCh37
Build 36X146,801,065 - 146,801,465RGDNCBI36
CeleraX147,345,350 - 147,345,713RGD
Cytogenetic MapXq27.3UniSTS
GDB:596304  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X146,993,532 - 146,993,659UniSTSGRCh37
Build 36X146,801,224 - 146,801,351RGDNCBI36
Cytogenetic MapXq27.3UniSTS
GDB:631926  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X146,993,533 - 146,993,654UniSTSGRCh37
Build 36X146,801,225 - 146,801,346RGDNCBI36
Cytogenetic MapXq27.3UniSTS
G64324  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X146,994,065 - 146,994,341UniSTSGRCh37
Build 36X146,801,757 - 146,802,033RGDNCBI36
CeleraX147,346,005 - 147,346,281RGD
Cytogenetic MapXq27.3UniSTS
G64325  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X146,992,867 - 146,993,145UniSTSGRCh37
Build 36X146,800,559 - 146,800,837RGDNCBI36
CeleraX147,344,844 - 147,345,122RGD
Cytogenetic MapXq27.3UniSTS
G64326  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X147,010,247 - 147,010,533UniSTSGRCh37
Build 36X146,817,939 - 146,818,225RGDNCBI36
CeleraX147,362,191 - 147,362,477RGD
Cytogenetic MapXq27.3UniSTS
HuRefX135,971,042 - 135,971,328UniSTS
STS-X69962  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X147,030,594 - 147,030,861UniSTSGRCh37
Build 36X146,838,286 - 146,838,553RGDNCBI36
CeleraX147,382,532 - 147,382,799RGD
Cytogenetic MapXq27.3UniSTS
HuRefX135,991,229 - 135,991,496UniSTS
GeneMap99-GB4 RH MapX338.74UniSTS
NCBI RH MapX741.9UniSTS
SHGC-106578  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X146,996,105 - 146,996,385UniSTSGRCh37
Build 36X146,803,797 - 146,804,077RGDNCBI36
CeleraX147,348,045 - 147,348,325RGD
Cytogenetic MapXq27.3UniSTS
HuRefX135,957,898 - 135,958,178UniSTS
FMR1_634  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X147,031,967 - 147,032,737UniSTSGRCh37
Build 36X146,839,659 - 146,840,429RGDNCBI36
CeleraX147,383,905 - 147,384,675RGD
HuRefX135,992,602 - 135,993,372UniSTS
WI-18960  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X147,030,674 - 147,030,967UniSTSGRCh37
Build 36X146,838,366 - 146,838,659RGDNCBI36
CeleraX147,382,612 - 147,382,905RGD
Cytogenetic MapXq27.3UniSTS
HuRefX135,991,309 - 135,991,602UniSTS
GeneMap99-GB4 RH MapX337.23UniSTS
Whitehead-RH MapX310.4UniSTS
NCBI RH MapX724.7UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR101-2hsa-miR-101-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23390134
MIR129-1hsa-miR-129-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23390134
MIR101-1hsa-miR-101-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23390134
MIR221hsa-miR-221-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23390134
MIR129-2hsa-miR-129-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23390134

Predicted Target Of
Summary Value
Count of predictions:6514
Count of miRNA genes:1111
Interacting mature miRNAs:1376
Transcripts:ENST00000218200, ENST00000334557, ENST00000370470, ENST00000370471, ENST00000370475, ENST00000370477, ENST00000439526, ENST00000440235, ENST00000463120, ENST00000475038, ENST00000478848, ENST00000492846, ENST00000495717
Prediction methods:Microtar, Miranda, Pita, Pita,Microtar, 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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2099 1564 1482 473 1263 362 3434 912 3145 371 1346 1598 125 1107 1932 6
Low 339 1423 244 151 684 103 922 1285 589 48 114 15 50 1 97 856 2
Below cutoff 4 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001185075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001185076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001185081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001185082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_033699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_033700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC086957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ213316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ287827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ417290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX498094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK825936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN315330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX871385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC774027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC774028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC774029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF454876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF856234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM091457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM091458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM091459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L19476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L19477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L19478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L19479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L19480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L19481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L19482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L19483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L19484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L19485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L19486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L19487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L19488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L19489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L19490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L19491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L19492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L19493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L29074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M67468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF593118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK674052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK674053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK674054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK674055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK674056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK674057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK674058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK674059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK674060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK674061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK674062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK674063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK674064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK674065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK674066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK674067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK674068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK674069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK674070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK674071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK674072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK674073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK674074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK674075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK674076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S65791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S74494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S76590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X69962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000218200   ⟹   ENSP00000218200
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX147,911,951 - 147,951,112 (+)Ensembl
RefSeq Acc Id: ENST00000334557   ⟹   ENSP00000355115
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX147,912,052 - 147,933,687 (+)Ensembl
RefSeq Acc Id: ENST00000370470   ⟹   ENSP00000359501
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX147,912,180 - 147,948,845 (+)Ensembl
RefSeq Acc Id: ENST00000370471   ⟹   ENSP00000359502
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX147,911,951 - 147,951,112 (+)Ensembl
RefSeq Acc Id: ENST00000370475   ⟹   ENSP00000359506
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX147,911,919 - 147,951,125 (+)Ensembl
RefSeq Acc Id: ENST00000370477   ⟹   ENSP00000359508
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX147,911,963 - 147,950,315 (+)Ensembl
RefSeq Acc Id: ENST00000439526   ⟹   ENSP00000395923
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX147,912,052 - 147,950,636 (+)Ensembl
RefSeq Acc Id: ENST00000440235   ⟹   ENSP00000413764
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX147,911,951 - 147,951,125 (+)Ensembl
RefSeq Acc Id: ENST00000463120   ⟹   ENSP00000480886
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX147,943,245 - 147,948,534 (+)Ensembl
RefSeq Acc Id: ENST00000475038   ⟹   ENSP00000480450
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX147,930,202 - 147,937,493 (+)Ensembl
RefSeq Acc Id: ENST00000478848
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX147,944,693 - 147,945,715 (+)Ensembl
RefSeq Acc Id: ENST00000492846
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX147,940,581 - 147,943,863 (+)Ensembl
RefSeq Acc Id: ENST00000495717   ⟹   ENSP00000481474
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX147,912,162 - 147,932,713 (+)Ensembl
RefSeq Acc Id: ENST00000611273
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX147,940,157 - 147,943,188 (+)Ensembl
RefSeq Acc Id: ENST00000616382   ⟹   ENSP00000481058
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX147,912,118 - 147,948,953 (+)Ensembl
RefSeq Acc Id: ENST00000616614   ⟹   ENSP00000480513
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX147,911,956 - 147,937,523 (+)Ensembl
RefSeq Acc Id: ENST00000620828
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX147,927,670 - 147,951,119 (+)Ensembl
RefSeq Acc Id: ENST00000621447   ⟹   ENSP00000484324
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX147,912,123 - 147,914,451 (+)Ensembl
RefSeq Acc Id: ENST00000621453   ⟹   ENSP00000479528
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX147,911,951 - 147,948,830 (+)Ensembl
RefSeq Acc Id: ENST00000621987   ⟹   ENSP00000477839
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX147,911,964 - 147,933,687 (+)Ensembl
RefSeq Acc Id: ENST00000643620
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX147,927,736 - 147,936,582 (+)Ensembl
RefSeq Acc Id: NM_001185075   ⟹   NP_001172004
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X147,911,919 - 147,951,125 (+)NCBI
GRCh37X146,993,469 - 147,032,647 (+)ENTREZGENE
HuRefX135,963,879 - 135,993,282 (+)ENTREZGENE
CHM1_1X146,904,323 - 146,943,501 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001185076   ⟹   NP_001172005
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X147,911,919 - 147,951,125 (+)NCBI
GRCh37X146,993,469 - 147,032,647 (+)ENTREZGENE
HuRefX135,963,879 - 135,993,282 (+)ENTREZGENE
CHM1_1X146,904,323 - 146,943,501 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001185081   ⟹   NP_001172010
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X147,911,919 - 147,951,125 (+)NCBI
GRCh37X146,993,469 - 147,032,647 (+)ENTREZGENE
HuRefX135,963,879 - 135,993,282 (+)ENTREZGENE
CHM1_1X146,904,323 - 146,943,501 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001185082   ⟹   NP_001172011
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X147,911,919 - 147,951,125 (+)NCBI
GRCh37X146,993,469 - 147,032,647 (+)ENTREZGENE
HuRefX135,963,879 - 135,993,282 (+)ENTREZGENE
CHM1_1X146,904,323 - 146,943,501 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002024   ⟹   NP_002015
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X147,911,919 - 147,951,125 (+)NCBI
GRCh37X146,993,469 - 147,032,647 (+)ENTREZGENE
Build 36X146,801,201 - 146,840,303 (+)NCBI Archive
HuRefX135,963,879 - 135,993,282 (+)ENTREZGENE
CHM1_1X146,904,323 - 146,943,501 (+)NCBI
Sequence:
RefSeq Acc Id: NR_033699
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X147,911,919 - 147,951,125 (+)NCBI
GRCh37X146,993,469 - 147,032,647 (+)ENTREZGENE
HuRefX135,963,879 - 135,993,282 (+)ENTREZGENE
CHM1_1X146,904,323 - 146,943,501 (+)NCBI
Sequence:
RefSeq Acc Id: NR_033700
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X147,911,919 - 147,951,125 (+)NCBI
GRCh37X146,993,469 - 147,032,647 (+)ENTREZGENE
HuRefX135,963,879 - 135,993,282 (+)ENTREZGENE
CHM1_1X146,904,323 - 146,943,501 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001172004 (Get FASTA)   NCBI Sequence Viewer  
  NP_001172005 (Get FASTA)   NCBI Sequence Viewer  
  NP_001172010 (Get FASTA)   NCBI Sequence Viewer  
  NP_001172011 (Get FASTA)   NCBI Sequence Viewer  
  NP_002015 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA52458 (Get FASTA)   NCBI Sequence Viewer  
  AAA62452 (Get FASTA)   NCBI Sequence Viewer  
  AAA62453 (Get FASTA)   NCBI Sequence Viewer  
  AAA62454 (Get FASTA)   NCBI Sequence Viewer  
  AAA62455 (Get FASTA)   NCBI Sequence Viewer  
  AAA62456 (Get FASTA)   NCBI Sequence Viewer  
  AAA62457 (Get FASTA)   NCBI Sequence Viewer  
  AAA62458 (Get FASTA)   NCBI Sequence Viewer  
  AAA62459 (Get FASTA)   NCBI Sequence Viewer  
  AAA62460 (Get FASTA)   NCBI Sequence Viewer  
  AAA62461 (Get FASTA)   NCBI Sequence Viewer  
  AAA62462 (Get FASTA)   NCBI Sequence Viewer  
  AAA62463 (Get FASTA)   NCBI Sequence Viewer  
  AAA62464 (Get FASTA)   NCBI Sequence Viewer  
  AAA62465 (Get FASTA)   NCBI Sequence Viewer  
  AAA62466 (Get FASTA)   NCBI Sequence Viewer  
  AAA62467 (Get FASTA)   NCBI Sequence Viewer  
  AAA62468 (Get FASTA)   NCBI Sequence Viewer  
  AAA62469 (Get FASTA)   NCBI Sequence Viewer  
  AAB18828 (Get FASTA)   NCBI Sequence Viewer  
  AAB18829 (Get FASTA)   NCBI Sequence Viewer  
  AAB18830 (Get FASTA)   NCBI Sequence Viewer  
  AAB18831 (Get FASTA)   NCBI Sequence Viewer  
  AAB18832 (Get FASTA)   NCBI Sequence Viewer  
  AAB18833 (Get FASTA)   NCBI Sequence Viewer  
  AAB28395 (Get FASTA)   NCBI Sequence Viewer  
  AAD14228 (Get FASTA)   NCBI Sequence Viewer  
  AAH38998 (Get FASTA)   NCBI Sequence Viewer  
  AAH86957 (Get FASTA)   NCBI Sequence Viewer  
  AGO02164 (Get FASTA)   NCBI Sequence Viewer  
  AGO02165 (Get FASTA)   NCBI Sequence Viewer  
  AGO02166 (Get FASTA)   NCBI Sequence Viewer  
  AHI43787 (Get FASTA)   NCBI Sequence Viewer  
  AHW56476 (Get FASTA)   NCBI Sequence Viewer  
  AHW56477 (Get FASTA)   NCBI Sequence Viewer  
  AHW56478 (Get FASTA)   NCBI Sequence Viewer  
  AKE48515 (Get FASTA)   NCBI Sequence Viewer  
  AKE48516 (Get FASTA)   NCBI Sequence Viewer  
  AKE48517 (Get FASTA)   NCBI Sequence Viewer  
  AYD60589 (Get FASTA)   NCBI Sequence Viewer  
  BAD92425 (Get FASTA)   NCBI Sequence Viewer  
  BAG57439 (Get FASTA)   NCBI Sequence Viewer  
  BAG63929 (Get FASTA)   NCBI Sequence Viewer  
  CAA49586 (Get FASTA)   NCBI Sequence Viewer  
  EAW61293 (Get FASTA)   NCBI Sequence Viewer  
  EAW61294 (Get FASTA)   NCBI Sequence Viewer  
  EAW61295 (Get FASTA)   NCBI Sequence Viewer  
  EAW61296 (Get FASTA)   NCBI Sequence Viewer  
  EAW61297 (Get FASTA)   NCBI Sequence Viewer  
  EAW61298 (Get FASTA)   NCBI Sequence Viewer  
  EAW61299 (Get FASTA)   NCBI Sequence Viewer  
  EAW61300 (Get FASTA)   NCBI Sequence Viewer  
  EAW61301 (Get FASTA)   NCBI Sequence Viewer  
  EAW61302 (Get FASTA)   NCBI Sequence Viewer  
  EAW61303 (Get FASTA)   NCBI Sequence Viewer  
  Q06787 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_002015   ⟸   NM_002024
- Peptide Label: isoform ISO1
- UniProtKB: Q06787 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001172004   ⟸   NM_001185075
- Peptide Label: isoform ISO6
- UniProtKB: Q06787 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001172005   ⟸   NM_001185076
- Peptide Label: isoform ISO7
- UniProtKB: Q06787 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001172011   ⟸   NM_001185082
- Peptide Label: isoform ISO9
- UniProtKB: Q06787 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001172010   ⟸   NM_001185081
- Peptide Label: isoform ISO12
- UniProtKB: Q06787 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000480886   ⟸   ENST00000463120
RefSeq Acc Id: ENSP00000359501   ⟸   ENST00000370470
RefSeq Acc Id: ENSP00000359502   ⟸   ENST00000370471
RefSeq Acc Id: ENSP00000359506   ⟸   ENST00000370475
RefSeq Acc Id: ENSP00000359508   ⟸   ENST00000370477
RefSeq Acc Id: ENSP00000477839   ⟸   ENST00000621987
RefSeq Acc Id: ENSP00000395923   ⟸   ENST00000439526
RefSeq Acc Id: ENSP00000484324   ⟸   ENST00000621447
RefSeq Acc Id: ENSP00000479528   ⟸   ENST00000621453
RefSeq Acc Id: ENSP00000355115   ⟸   ENST00000334557
RefSeq Acc Id: ENSP00000218200   ⟸   ENST00000218200
RefSeq Acc Id: ENSP00000413764   ⟸   ENST00000440235
RefSeq Acc Id: ENSP00000481474   ⟸   ENST00000495717
RefSeq Acc Id: ENSP00000480513   ⟸   ENST00000616614
RefSeq Acc Id: ENSP00000481058   ⟸   ENST00000616382
RefSeq Acc Id: ENSP00000480450   ⟸   ENST00000475038
Protein Domains
Agenet-like   FXMR_C2   FXMRP1_C_core   KH   Tudor_FRX1

Promoters
RGD ID:6808854
Promoter ID:HG_KWN:68348
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour
Transcripts:OTTHUMT00000058663
Position:
Human AssemblyChrPosition (strand)Source
Build 36X146,821,041 - 146,821,541 (+)MPROMDB
RGD ID:13628290
Promoter ID:EPDNEW_H29420
Type:initiation region
Name:FMR1_1
Description:fragile X mental retardation 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29421  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X147,911,951 - 147,912,011EPDNEW
RGD ID:13628292
Promoter ID:EPDNEW_H29421
Type:initiation region
Name:FMR1_2
Description:fragile X mental retardation 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29420  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X147,912,070 - 147,912,130EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002024.6(FMR1):c.1726G>A (p.Gly576Arg) single nucleotide variant not provided [RCV000521586] ChrX:147945605 [GRCh38]
ChrX:147027125 [GRCh37]
ChrX:Xq27.3
uncertain significance
NM_002024.5(FMR1):c.1332T>A (p.Ile444=) single nucleotide variant not provided [RCV000523832] ChrX:147943187 [GRCh38]
ChrX:147024707 [GRCh37]
ChrX:Xq27.3
uncertain significance
NM_002024.6(FMR1):c.80C>A (p.Ser27Ter) single nucleotide variant Fragile X syndrome [RCV000022880] ChrX:147921961 [GRCh38]
ChrX:147003479 [GRCh37]
ChrX:Xq27.3
pathogenic
NM_002024.6(FMR1):c.554T>C (p.Ile185Thr) single nucleotide variant not provided [RCV000519581] ChrX:147930168 [GRCh38]
ChrX:147011687 [GRCh37]
ChrX:Xq27.3
uncertain significance
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_002024.6(FMR1):c.373del (p.Thr125fs) deletion Fragile X syndrome [RCV000010649] ChrX:147928761 [GRCh38]
ChrX:147010279 [GRCh37]
ChrX:Xq27.3
pathogenic
NM_002024.5(FMR1):c.52-1_52delinsTA indel Fragile X syndrome [RCV000010650] ChrX:147921932..147921933 [GRCh38]
ChrX:147003450..147003451 [GRCh37]
ChrX:Xq27.3
pathogenic
FMR1, (CGG)n REPEAT EXPANSION microsatellite Fragile X syndrome [RCV000010651]|Fragile X tremor/ataxia syndrome [RCV000010652]|Premature ovarian failure 1 [RCV000010653] ChrX:Xq27.3 pathogenic
NM_002024.6(FMR1):c.911T>A (p.Ile304Asn) single nucleotide variant Fragile X syndrome [RCV000010648] ChrX:147936534 [GRCh38]
ChrX:147018053 [GRCh37]
ChrX:Xq27.3
pathogenic
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 Xq27.3-28(chrX:146896288-149621145)x1 copy number loss See cases [RCV000050631] ChrX:146896288..149621145 [GRCh38]
ChrX:145785498..148510629 [NCBI36]
ChrX:Xq27.3-28
pathogenic
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 Xq27.3(chrX:147933767-147951004)x0 copy number loss See cases [RCV000051167] ChrX:147933767..147951004 [GRCh38]
ChrX:146822978..146840216 [NCBI36]
ChrX:Xq27.3
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28
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 Xq27.3-28(chrX:147151996-150364798)x1 copy number loss See cases [RCV000051748] ChrX:147151996..150364798 [GRCh38]
ChrX:146041206..149283723 [NCBI36]
ChrX:Xq27.3-28
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 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
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 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139230333-150628474)x1 copy number loss See cases [RCV000051733] ChrX:139230333..150628474 [GRCh38]
ChrX:138312495..149782550 [GRCh37]
ChrX:138140161..149547605 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140422829-148166315)x0 copy number loss See cases [RCV000051745] ChrX:140422829..148166315 [GRCh38]
ChrX:139504994..147005548 [GRCh37]
ChrX:139332660..147055527 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28
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 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: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 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 copy number gain See cases [RCV000052474] ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28
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
NM_002024.6(FMR1):c.1857C>T (p.Asp619=) single nucleotide variant History of neurodevelopmental disorder [RCV000716932]|not specified [RCV000079964] ChrX:147948802 [GRCh38]
ChrX:147030322 [GRCh37]
ChrX:Xq27.3
benign|likely benign
NM_002024.5(FMR1):c.271-19A>G single nucleotide variant not specified [RCV000079965] ChrX:147928640 [GRCh38]
ChrX:147010158 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.6(FMR1):c.414G>A (p.Arg138=) single nucleotide variant Fragile X syndrome [RCV001276519]|History of neurodevelopmental disorder [RCV000715538]|not specified [RCV000079966] ChrX:147928802 [GRCh38]
ChrX:147010320 [GRCh37]
ChrX:Xq27.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_002024.6(FMR1):c.440A>G (p.His147Arg) single nucleotide variant not provided [RCV000079967] ChrX:147929968 [GRCh38]
ChrX:147011487 [GRCh37]
ChrX:Xq27.3
uncertain significance
NM_002024.5(FMR1):c.990+14C>T single nucleotide variant not specified [RCV000079968] ChrX:147936627 [GRCh38]
ChrX:147018146 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.6(FMR1):c.433G>T (p.Ala145Ser) single nucleotide variant Fragile X syndrome [RCV001276520]|History of neurodevelopmental disorder [RCV000715672]|not specified [RCV000117089] ChrX:147929961 [GRCh38]
ChrX:147011480 [GRCh37]
ChrX:Xq27.3
benign|likely benign
NM_002024.5(FMR1):c.1737+8C>A single nucleotide variant not specified [RCV000117090] ChrX:147945624 [GRCh38]
ChrX:147027144 [GRCh37]
ChrX:Xq27.3
benign|likely benign
NM_002024.6(FMR1):c.1751G>A (p.Cys584Tyr) single nucleotide variant not provided [RCV000117091] ChrX:147948696 [GRCh38]
ChrX:147030216 [GRCh37]
ChrX:Xq27.3
uncertain significance
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
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28
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_002024.5(FMR1):c.420-11dup duplication not specified [RCV000153254] ChrX:147929926..147929927 [GRCh38]
ChrX:147011445..147011446 [GRCh37]
ChrX:Xq27.3
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)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 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 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28
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 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 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-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 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28
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 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28
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: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 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 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 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28
pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
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 Xq27.3-28(chrX:147668985-148237612)x0 copy number loss See cases [RCV000137833] ChrX:147668985..148237612 [GRCh38]
ChrX:146558195..147126824 [NCBI36]
ChrX:Xq27.3-28
likely benign
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 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28
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 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28
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 Xq27.2-28(chrX:142602008-149482800)x1 copy number loss See cases [RCV000141518] ChrX:142602008..149482800 [GRCh38]
ChrX:141689794..147944759 [GRCh37]
ChrX:141517460..148372236 [NCBI36]
ChrX:Xq27.2-28
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 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: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 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_002024.5(FMR1):c.-128_-126(200) microsatellite Fragile X syndrome [RCV000162201] ChrX:147912049..147912050 [GRCh38]
ChrX:146993570..146993572 [GRCh37]
ChrX:Xq27.3
pathogenic
NC_000023.9:g.146703942_146820448del deletion Fragile X syndrome [RCV000162202] ChrX:146703942..146820448 [NCBI36]
ChrX:Xq27.3
pathogenic|likely pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138125974-147236414)x2 copy number gain See cases [RCV000167566] ChrX:138125974..147236414 [GRCh37]
ChrX:Xq27.1-28
pathogenic
NM_002024.6(FMR1):c.348T>C (p.Asn116=) single nucleotide variant not specified [RCV000178858] ChrX:147928736 [GRCh38]
ChrX:147010254 [GRCh37]
ChrX:Xq27.3
benign|uncertain significance
NM_002024.5(FMR1):c.420-10A>T single nucleotide variant not provided [RCV000179400] ChrX:147929938 [GRCh38]
ChrX:147011457 [GRCh37]
ChrX:Xq27.3
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
NM_002024.6(FMR1):c.522T>A (p.Asn174Lys) single nucleotide variant not specified [RCV000192581] ChrX:147930136 [GRCh38]
ChrX:147011655 [GRCh37]
ChrX:Xq27.3
likely benign
NM_002024.6(FMR1):c.374C>T (p.Thr125Ile) single nucleotide variant not specified [RCV000194406] ChrX:147928762 [GRCh38]
ChrX:147010280 [GRCh37]
ChrX:Xq27.3
uncertain significance
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
NM_002024.6(FMR1):c.1572C>T (p.Ser524=) single nucleotide variant Fragile X syndrome [RCV001276521]|History of neurodevelopmental disorder [RCV000719867]|not specified [RCV000193183] ChrX:147944969 [GRCh38]
ChrX:147026489 [GRCh37]
ChrX:Xq27.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_002024.5(FMR1):c.420-8A>G single nucleotide variant Intellectual disability [RCV000258895] ChrX:147929940 [GRCh38]
ChrX:147011459 [GRCh37]
ChrX:Xq27.3
pathogenic
NM_002024.5(FMR1):c.990+1G>A single nucleotide variant Intellectual disability [RCV000258904] ChrX:147936614 [GRCh38]
ChrX:147018133 [GRCh37]
ChrX:Xq27.3
pathogenic
NC_000023.10:g.(?_147030199)_(147046357_?)del deletion Intellectual disability [RCV000258914] ChrX:147030199..147046357 [GRCh37]
ChrX:Xq27.3
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
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
GRCh37/hg19 Xq27.3-28(chrX:146977059-147106579)x2 copy number gain See cases [RCV000240319] ChrX:146977059..147106579 [GRCh37]
ChrX:Xq27.3-28
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 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28
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_002024.6(FMR1):c.375T>C (p.Thr125=) single nucleotide variant not specified [RCV000382751] ChrX:147928763 [GRCh38]
ChrX:147010281 [GRCh37]
ChrX:Xq27.3
likely benign
NM_002024.5(FMR1):c.1654+10T>A single nucleotide variant not provided [RCV000334308] ChrX:147945061 [GRCh38]
ChrX:147026581 [GRCh37]
ChrX:Xq27.3
uncertain significance
NM_002024.5(FMR1):c.104+42A>G single nucleotide variant not specified [RCV000591672] ChrX:147922027 [GRCh38]
ChrX:147003545 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.5(FMR1):c.419+43T>C single nucleotide variant not specified [RCV000593368] ChrX:147928850 [GRCh38]
ChrX:147010368 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.5(FMR1):c.801+31C>T single nucleotide variant not specified [RCV000591098] ChrX:147932626 [GRCh38]
ChrX:147014145 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.5(FMR1):c.199-2A>G single nucleotide variant Autistic behavior [RCV000415417] ChrX:147928320 [GRCh38]
ChrX:147009838 [GRCh37]
ChrX:Xq27.3
likely pathogenic
NM_002024.6(FMR1):c.1256A>G (p.Tyr419Cys) single nucleotide variant not provided [RCV000413972] ChrX:147940643 [GRCh38]
ChrX:147022162 [GRCh37]
ChrX:Xq27.3
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 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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
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
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
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 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
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 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
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_002024.6(FMR1):c.225G>A (p.Glu75=) single nucleotide variant not specified [RCV000500526] ChrX:147928348 [GRCh38]
ChrX:147009866 [GRCh37]
ChrX:Xq27.3
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 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 Xq27.3-28(chrX:146232592-155233731)x1 copy number loss See cases [RCV000511228] ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28
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
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_002024.6(FMR1):c.602G>C (p.Arg201Thr) single nucleotide variant Inborn genetic diseases [RCV000623145] ChrX:147930216 [GRCh38]
ChrX:147011735 [GRCh37]
ChrX:Xq27.3
uncertain significance
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 Xq27.3(chrX:146683917-147028535)x2 copy number gain See cases [RCV000512143] ChrX:146683917..147028535 [GRCh37]
ChrX:Xq27.3
association|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_002024.6(FMR1):c.818A>G (p.Lys273Arg) single nucleotide variant Fragile X syndrome [RCV001195728]|not provided [RCV000513003] ChrX:147932701 [GRCh38]
ChrX:147014220 [GRCh37]
ChrX:Xq27.3
benign|uncertain significance
NM_002024.6(FMR1):c.1580G>A (p.Arg527His) single nucleotide variant Inborn genetic diseases [RCV000623611] ChrX:147944977 [GRCh38]
ChrX:147026497 [GRCh37]
ChrX:Xq27.3
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_002024.6(FMR1):c.651G>A (p.Ser217=) single nucleotide variant History of neurodevelopmental disorder [RCV000719921] ChrX:147932445 [GRCh38]
ChrX:147013964 [GRCh37]
ChrX:Xq27.3
likely benign
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28
pathogenic
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 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq27.3(chrX:146726429-147028536)x2 copy number gain not provided [RCV000684407] ChrX:146726429..147028536 [GRCh37]
ChrX:Xq27.3
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
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_002024.6(FMR1):c.18G>T (p.Val6=) single nucleotide variant History of neurodevelopmental disorder [RCV000716157]|not specified [RCV000727572] ChrX:147912197 [GRCh38]
ChrX:146993715 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.6(FMR1):c.1663G>A (p.Asp555Asn) single nucleotide variant History of neurodevelopmental disorder [RCV000719778] ChrX:147945542 [GRCh38]
ChrX:147027062 [GRCh37]
ChrX:Xq27.3
uncertain significance
NM_002024.6(FMR1):c.797G>A (p.Gly266Glu) single nucleotide variant History of neurodevelopmental disorder [RCV000721091] ChrX:147932591 [GRCh38]
ChrX:147014110 [GRCh37]
ChrX:Xq27.3
likely pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28
pathogenic
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
NM_002024.5(FMR1):c.-128_-126GGC(55_200) microsatellite Fragile X tremor/ataxia syndrome [RCV000761550]|Premature ovarian failure 1 [RCV000761551] ChrX:147912052..147912054 [GRCh38]
ChrX:146993570..146993572 [GRCh37]
ChrX:Xq27.3
pathogenic
NM_002024.5(FMR1):c.-128GGC[(200_?)] microsatellite Fragile X syndrome [RCV000761552] ChrX:146993570 [GRCh37]
ChrX:Xq27.3
pathogenic
NM_002024.6(FMR1):c.-129_-127CGG[13] microsatellite not provided [RCV000942257] ChrX:147912049..147912050 [GRCh38]
ChrX:146993567..146993568 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.6(FMR1):c.-129_-127CGG[17] microsatellite not provided [RCV000945148] ChrX:147912049..147912050 [GRCh38]
ChrX:146993567..146993568 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.6(FMR1):c.-129_-127CGG[15] microsatellite not provided [RCV000976206] ChrX:147912049..147912050 [GRCh38]
ChrX:146993567..146993568 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.6(FMR1):c.-129_-127CGG[12] microsatellite not provided [RCV000977515] ChrX:147912049..147912050 [GRCh38]
ChrX:146993567..146993568 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.6(FMR1):c.-129_-127CGG[11] microsatellite not provided [RCV000929890] ChrX:147912049..147912050 [GRCh38]
ChrX:146993567..146993568 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.6(FMR1):c.-129_-127CGG[31] microsatellite not provided [RCV000938971] ChrX:147912049..147912050 [GRCh38]
ChrX:146993567..146993568 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.6(FMR1):c.-129_-127CGG[30] microsatellite not provided [RCV000939006] ChrX:147912049..147912050 [GRCh38]
ChrX:146993567..146993568 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.6(FMR1):c.-129_-127CGG[20] microsatellite not provided [RCV000939221] ChrX:147912049..147912050 [GRCh38]
ChrX:146993567..146993568 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.6(FMR1):c.-129_-127CGG[42] microsatellite not provided [RCV000939250] ChrX:147912049..147912050 [GRCh38]
ChrX:146993567..146993568 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.6(FMR1):c.-129_-127CGG[35] microsatellite not provided [RCV000940477] ChrX:147912049..147912050 [GRCh38]
ChrX:146993567..146993568 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.6(FMR1):c.-129_-127CGG[33] microsatellite not provided [RCV000940479] ChrX:147912049..147912050 [GRCh38]
ChrX:146993567..146993568 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.6(FMR1):c.-129_-127CGG[32] microsatellite not provided [RCV000940496] ChrX:147912049..147912050 [GRCh38]
ChrX:146993567..146993568 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.6(FMR1):c.-129_-127CGG[40] microsatellite not provided [RCV000940504] ChrX:147912049..147912050 [GRCh38]
ChrX:146993567..146993568 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.6(FMR1):c.-129_-127CGG[36] microsatellite not provided [RCV000940506] ChrX:147912049..147912050 [GRCh38]
ChrX:146993567..146993568 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.6(FMR1):c.-129_-127CGG[22] microsatellite not provided [RCV000940788] ChrX:147912049..147912050 [GRCh38]
ChrX:146993567..146993568 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.6(FMR1):c.-129_-127CGG[41] microsatellite not provided [RCV000940798] ChrX:147912049..147912050 [GRCh38]
ChrX:146993567..146993568 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.6(FMR1):c.-129_-127CGG[26] microsatellite not provided [RCV000940800] ChrX:147912049..147912050 [GRCh38]
ChrX:146993567..146993568 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.6(FMR1):c.-129_-127CGG[27] microsatellite not provided [RCV000940804] ChrX:147912049..147912050 [GRCh38]
ChrX:146993567..146993568 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.6(FMR1):c.-129_-127CGG[24] microsatellite not provided [RCV000940935] ChrX:147912049..147912050 [GRCh38]
ChrX:146993567..146993568 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.6(FMR1):c.-129_-127CGG[44] microsatellite not provided [RCV000940938] ChrX:147912049..147912050 [GRCh38]
ChrX:146993567..146993568 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.6(FMR1):c.-129_-127CGG[19] microsatellite not provided [RCV000940965] ChrX:147912049..147912050 [GRCh38]
ChrX:146993567..146993568 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.6(FMR1):c.-129_-127CGG[14] microsatellite not provided [RCV000940979] ChrX:147912049..147912050 [GRCh38]
ChrX:146993567..146993568 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.6(FMR1):c.-129_-127CGG[34] microsatellite not provided [RCV000941020] ChrX:147912049..147912050 [GRCh38]
ChrX:146993567..146993568 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.6(FMR1):c.-129_-127CGG[21] microsatellite not provided [RCV000941087] ChrX:147912049..147912050 [GRCh38]
ChrX:146993567..146993568 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.6(FMR1):c.-129_-127CGG[39] microsatellite not provided [RCV000941106] ChrX:147912049..147912050 [GRCh38]
ChrX:146993567..146993568 [GRCh37]
ChrX:Xq27.3
benign
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_002024.6(FMR1):c.-129_-127CGG[29] microsatellite not provided [RCV000939005] ChrX:147912049..147912050 [GRCh38]
ChrX:146993567..146993568 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.6(FMR1):c.-129_-127CGG[38] microsatellite not provided [RCV000940787] ChrX:147912049..147912050 [GRCh38]
ChrX:146993567..146993568 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.6(FMR1):c.-129_-127CGG[25] microsatellite not provided [RCV000941005] ChrX:147912049..147912050 [GRCh38]
ChrX:146993567..146993568 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.6(FMR1):c.-129_-127CGG[18] microsatellite not provided [RCV000941198] ChrX:147912049..147912050 [GRCh38]
ChrX:146993567..146993568 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.6(FMR1):c.-129_-127CGG[28] microsatellite not provided [RCV000941285] ChrX:147912049..147912050 [GRCh38]
ChrX:146993567..146993568 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.6(FMR1):c.-129_-127CGG[9] microsatellite not provided [RCV000944562] ChrX:147912050..147912052 [GRCh38]
ChrX:146993568..146993570 [GRCh37]
ChrX:Xq27.3
benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_002024.6(FMR1):c.*746T>C single nucleotide variant Fragile X syndrome [RCV000990958] ChrX:147949590 [GRCh38]
ChrX:147031110 [GRCh37]
ChrX:Xq27.3
benign
GRCh37/hg19 Xq27.1-28(chrX:138120235-147240344)x2 copy number gain not provided [RCV000849149] ChrX:138120235..147240344 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139513270-149234353)x2 copy number gain not provided [RCV000846424] ChrX:139513270..149234353 [GRCh37]
ChrX:Xq27.1-28
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 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NC_000023.10:g.146993570GGC[(45_54)] microsatellite Fragile X syndrome [RCV001249604]   other
NM_002024.6(FMR1):c.357A>C (p.Lys119Asn) single nucleotide variant Fragile X syndrome [RCV000990957] ChrX:147928745 [GRCh38]
ChrX:147010263 [GRCh37]
ChrX:Xq27.3
likely benign
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 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-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
NC_000023.10:g.146993570GGC[(55_200)] microsatellite Fragile X syndrome [RCV001249603]   other
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_002024.6(FMR1):c.-129_-127CGG[23] microsatellite not provided [RCV000938977] ChrX:147912049..147912050 [GRCh38]
ChrX:146993567..146993568 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.6(FMR1):c.-129_-127CGG[37] microsatellite not provided [RCV000939007] ChrX:147912049..147912050 [GRCh38]
ChrX:146993567..146993568 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.6(FMR1):c.-129_-127CGG[43] microsatellite not provided [RCV000941021] ChrX:147912049..147912050 [GRCh38]
ChrX:146993567..146993568 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.6(FMR1):c.-129_-127CGG[16] microsatellite not provided [RCV000941375] ChrX:147912049..147912050 [GRCh38]
ChrX:146993567..146993568 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.6(FMR1):c.-129_-100= variation not provided [RCV000944678] ChrX:147912051..147912080 [GRCh38]
ChrX:146993569..146993598 [GRCh37]
ChrX:Xq27.3
benign
NM_002024.6(FMR1):c.1371G>A (p.Lys457=) single nucleotide variant not provided [RCV000951364] ChrX:147943226 [GRCh38]
ChrX:147024746 [GRCh37]
ChrX:Xq27.3
likely benign
NM_002024.6(FMR1):c.-129_-127CGG[8] microsatellite not provided [RCV000979124] ChrX:147912050..147912055 [GRCh38]
ChrX:146993568..146993573 [GRCh37]
ChrX:Xq27.3
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
NM_002024.6(FMR1):c.104+5G>C single nucleotide variant not provided [RCV001092167] ChrX:147921990 [GRCh38]
ChrX:147003508 [GRCh37]
ChrX:Xq27.3
likely pathogenic
NC_000023.10:g.146993570GGC[(?_45)] microsatellite Fragile X syndrome [RCV001249605] ChrX:146993570 [GRCh37]
ChrX:Xq27.3
benign
NC_000023.10:g.146993570GGC[(200_?)] microsatellite Fragile X syndrome [RCV001249602] ChrX:146993570 [GRCh37]
ChrX:Xq27.3
pathogenic
NM_002024.6(FMR1):c.479C>T (p.Thr160Ile) single nucleotide variant Intellectual disability [RCV001251755] ChrX:147930007 [GRCh38]
ChrX:147011526 [GRCh37]
ChrX:Xq27.3
likely benign
NM_002024.6(FMR1):c.608AAG[1] (p.Glu204del) microsatellite Neurodevelopmental abnormality [RCV001264631] ChrX:147930221..147930223 [GRCh38]
ChrX:147011740..147011742 [GRCh37]
ChrX:Xq27.3
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
NM_002024.6(FMR1):c.104+3_104+6del microsatellite not provided [RCV001268561] ChrX:147921984..147921987 [GRCh38]
ChrX:147003502..147003505 [GRCh37]
ChrX:Xq27.3
likely pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146634335-147115161)x2 copy number gain not provided [RCV001260051] ChrX:146634335..147115161 [GRCh37]
ChrX:Xq27.3-28
uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
NM_002024.6(FMR1):c.1282G>C (p.Asp428His) single nucleotide variant Fragile X syndrome [RCV001328912] ChrX:147943137 [GRCh38]
ChrX:147024657 [GRCh37]
ChrX:Xq27.3
uncertain significance
NM_002024.6(FMR1):c.1184G>A (p.Trp395Ter) single nucleotide variant Fragile X syndrome [RCV001328911] ChrX:147938157 [GRCh38]
ChrX:147019676 [GRCh37]
ChrX:Xq27.3
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3775 AgrOrtholog
COSMIC FMR1 COSMIC
Ensembl Genes ENSG00000102081 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000218200 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000355115 UniProtKB/TrEMBL
  ENSP00000359501 UniProtKB/Swiss-Prot
  ENSP00000359502 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000359506 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000359508 UniProtKB/TrEMBL
  ENSP00000395923 UniProtKB/TrEMBL
  ENSP00000413764 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000477839 UniProtKB/TrEMBL
  ENSP00000479528 UniProtKB/TrEMBL
  ENSP00000480450 UniProtKB/TrEMBL
  ENSP00000480513 UniProtKB/TrEMBL
  ENSP00000480886 UniProtKB/TrEMBL
  ENSP00000481058 UniProtKB/TrEMBL
  ENSP00000481474 UniProtKB/TrEMBL
  ENSP00000484324 UniProtKB/TrEMBL
Ensembl Transcript ENST00000218200 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000334557 UniProtKB/TrEMBL
  ENST00000370470 UniProtKB/Swiss-Prot
  ENST00000370471 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000370475 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000370477 UniProtKB/TrEMBL
  ENST00000439526 UniProtKB/TrEMBL
  ENST00000440235 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000463120 UniProtKB/TrEMBL
  ENST00000475038 UniProtKB/TrEMBL
  ENST00000495717 UniProtKB/TrEMBL
  ENST00000616382 UniProtKB/TrEMBL
  ENST00000616614 UniProtKB/TrEMBL
  ENST00000621447 UniProtKB/TrEMBL
  ENST00000621453 UniProtKB/TrEMBL
  ENST00000621987 UniProtKB/TrEMBL
Gene3D-CATH 3.30.1370.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000102081 GTEx
HGNC ID HGNC:3775 ENTREZGENE
Human Proteome Map FMR1 Human Proteome Map
InterPro Agenet-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FMR1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FMRP_KH0 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FXMR_C2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FXMRP1_C_core UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KH_dom_type_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KH_dom_type_1_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tudor_FRX1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2332 UniProtKB/Swiss-Prot
NCBI Gene 2332 ENTREZGENE
OMIM 300623 OMIM
  300624 OMIM
  309550 OMIM
  311360 OMIM
PANTHER PTHR10603 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Agenet UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FXMR_C2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FXMRP1_C_core UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KH_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KH_9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tudor_FRX1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28191 PharmGKB
PROSITE AGENET_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KH_TYPE_1 UniProtKB/Swiss-Prot
SMART SM00322 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54791 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WWR6_HUMAN UniProtKB/TrEMBL
  A0A087WWU4_HUMAN UniProtKB/TrEMBL
  A0A087WXC0_HUMAN UniProtKB/TrEMBL
  A0A087WXI3_HUMAN UniProtKB/TrEMBL
  A0A087WY29_HUMAN UniProtKB/TrEMBL
  A0A087X1M7_HUMAN UniProtKB/TrEMBL
  A0A0K0MJ24_HUMAN UniProtKB/TrEMBL
  A8MQB8_HUMAN UniProtKB/TrEMBL
  FMR1_HUMAN UniProtKB/Swiss-Prot
  G3V0J0_HUMAN UniProtKB/TrEMBL
  Q06787 ENTREZGENE
  Q8IUI9_HUMAN UniProtKB/TrEMBL
  Q8IXW7_HUMAN UniProtKB/TrEMBL
  R9WNI0_HUMAN UniProtKB/TrEMBL
  R9WPL0_HUMAN UniProtKB/TrEMBL
  R9WQY1_HUMAN UniProtKB/TrEMBL
  W5ZQ92_HUMAN UniProtKB/TrEMBL
  X5D907_HUMAN UniProtKB/TrEMBL
  X5DQX7_HUMAN UniProtKB/TrEMBL
UniProt Secondary A6NNH4 UniProtKB/Swiss-Prot
  D3DWT0 UniProtKB/Swiss-Prot
  D3DWT1 UniProtKB/Swiss-Prot
  D3DWT2 UniProtKB/Swiss-Prot
  G8JL90 UniProtKB/Swiss-Prot
  Q16578 UniProtKB/Swiss-Prot
  Q5PQZ6 UniProtKB/Swiss-Prot
  Q99054 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-08-27 FMR1  FMRP translational regulator 1  FMR1  fragile X mental retardation 1  Symbol and/or name change 5135510 APPROVED
2017-08-15 FMR1  fragile X mental retardation 1  FRAXA  fragile site, folic acid type, rare, fra(X)(q27.3), (macroorchidism, mental retardation)  Data Merged 737654 PROVISIONAL
2016-04-05 FMR1  fragile X mental retardation 1  POF1  premature ovarian failure 1  Data Merged 737654 PROVISIONAL