ACTB (actin beta) - Rat Genome Database

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Gene: ACTB (actin beta) Homo sapiens
Analyze
Symbol: ACTB
Name: actin beta
RGD ID: 735801
HGNC Page HGNC
Description: Enables several functions, including Tat protein binding activity; enzyme binding activity; and kinesin binding activity. A structural constituent of postsynaptic actin cytoskeleton. Contributes to nucleosomal DNA binding activity. Involved in several processes, including apical protein localization; cellular response to cytochalasin B; and postsynaptic actin cytoskeleton organization. Located in several cellular components, including adherens junction; lamellipodium; and tight junction. Part of NuA4 histone acetyltransferase complex and ribonucleoprotein complex. Is active in glutamatergic synapse and postsynaptic actin cytoskeleton. Implicated in Baraitser-Winter syndrome. Biomarker of hand, foot and mouth disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: actin, beta; actin, cytoplasmic 1; beta cytoskeletal actin; BRWS1; I(2)-actin; PS1TP5-binding protein 1; PS1TP5BP1
RGD Orthologs
Mouse
Rat
Chinchilla
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC026434.1   ACTBP1   ACTBP10   ACTBP11   ACTBP12   ACTBP2   ACTBP3   ACTBP4   ACTBP6   ACTBP7   ACTBP8   ACTBP9   ACTL11P   LOC100132223   LOC100418883   LOC390029   LOC402221   LOC644936  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl75,526,409 - 5,563,902 (-)EnsemblGRCh38hg38GRCh38
GRCh3875,527,148 - 5,530,601 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3775,566,779 - 5,570,232 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3675,533,312 - 5,536,747 (-)NCBINCBI36hg18NCBI36
Build 3475,340,026 - 5,343,462NCBI
Celera75,526,560 - 5,530,009 (-)NCBI
Cytogenetic Map7p22.1NCBI
HuRef75,479,343 - 5,482,774 (-)NCBIHuRef
CHM1_175,566,362 - 5,569,815 (-)NCBICHM1_1
CRA_TCAGchr7v275,613,124 - 5,616,577 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (ISO)
(+)-epicatechin-3-O-gallate  (ISO)
(+)-pilocarpine  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
(3,4-dihydroxyphenyl)acetic acid  (ISO)
(S)-amphetamine  (ISO)
(S)-nicotine  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17beta-estradiol  (ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrotoluene  (ISO)
2-amino-2-deoxy-D-galactopyranose  (ISO)
2-methylcholine  (EXP)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
3-phenylprop-2-enal  (EXP)
4-hydroperoxycyclophosphamide  (ISO)
4-hydroxynon-2-enal  (EXP)
4-vinylcyclohexene dioxide  (ISO)
5-fluorouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
abamectin  (ISO)
acetamide  (ISO)
acetic acid  (ISO)
acetylsalicylic acid  (EXP)
acrolein  (EXP)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (ISO)
all-trans-retinol  (ISO)
alloxan  (ISO)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
aristolochic acid  (EXP)
Aroclor 1254  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
arsenous acid  (EXP)
bathocuproine disulfonic acid  (EXP)
beauvericin  (EXP)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-chloroethyl) sulfide  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Brodifacoum  (ISO)
bromobenzene  (ISO)
bromochloroacetic acid  (ISO)
bufalin  (EXP)
buspirone  (ISO)
butan-1-ol  (EXP)
butanal  (EXP)
cadmium dichloride  (EXP)
caffeine  (EXP)
calcidiol  (ISO)
calcitriol  (ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
carbon disulfide  (ISO)
carbon nanotube  (EXP,ISO)
ceftriaxone  (ISO)
chloromethylisothiazolinone  (EXP)
chloropicrin  (EXP)
cisplatin  (EXP)
clobetasol  (ISO)
clofibrate  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) chloride  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
cyclophosphamide  (EXP,ISO)
cyclosporin A  (EXP,ISO)
D-glucose  (EXP)
DDT  (EXP)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
dibenzo[a,l]pyrene  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
diethylstilbestrol  (ISO)
dioxygen  (EXP)
disodium selenite  (EXP)
dopamine  (EXP)
Doramectin  (ISO)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP)
endosulfan  (EXP,ISO)
ethanol  (ISO)
fenbuconazole  (EXP)
fipronil  (ISO)
flutamide  (ISO)
furan  (ISO)
gamma-hexachlorocyclohexane  (ISO)
genistein  (EXP)
gentamycin  (ISO)
glucose  (EXP)
glyphosate  (EXP)
hyaluronic acid  (ISO)
hydrogen peroxide  (EXP,ISO)
indirubin-3'-monoxime  (EXP)
iodide salt  (ISO)
ionomycin  (EXP)
isoprenaline  (ISO)
ivermectin  (EXP)
latrunculin A  (EXP)
lead diacetate  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
lead(II) chloride  (EXP)
leflunomide  (EXP)
lipopolysaccharide  (ISO)
lithium atom  (ISO)
lithium hydride  (ISO)
lovastatin  (ISO)
manganese(II) chloride  (EXP)
mercury atom  (ISO)
mercury dichloride  (EXP)
mercury(0)  (ISO)
methamphetamine  (ISO)
methapyrilene  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
microcystin-LR  (ISO)
mifepristone  (EXP)
Monobutylphthalate  (ISO)
monocrotaline  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
N-methyl-N-nitrosourea  (ISO)
N-nitrosomorpholine  (ISO)
naphthalene  (ISO)
nickel atom  (EXP)
nickel dichloride  (EXP)
nicotine  (ISO)
nitric oxide  (ISO)
nitroglycerin  (ISO)
Nonylphenol  (ISO)
ochratoxin A  (EXP)
ozone  (EXP,ISO)
p-menthan-3-ol  (EXP)
paracetamol  (ISO)
paraoxon  (EXP)
paraquat  (EXP)
perfluorobutyric acid  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (ISO)
phenethyl isothiocyanate  (EXP)
PhIP  (ISO)
phlorizin  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
progesterone  (ISO)
propiconazole  (ISO)
pyrrolidine dithiocarbamate  (EXP)
quercetin  (EXP,ISO)
resveratrol  (ISO)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
selenium atom  (EXP)
serpentine asbestos  (EXP)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
simvastatin  (ISO)
sirolimus  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
sulforaphane  (EXP)
T-2 toxin  (ISO)
tert-butyl hydroperoxide  (EXP)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
triadimefon  (ISO)
tributylstannane  (EXP)
trichloroethene  (ISO)
triphenylstannane  (EXP)
Triptolide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
trovafloxacin  (ISO)
tunicamycin  (EXP)
uranium atom  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
vitamin E  (EXP)
warfarin  (ISO)
zinc atom  (ISO)
zinc dichloride  (ISO)
zinc sulfate  (EXP)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormality of the scrotum  (IAGP)
Abnormality of tibia morphology  (IAGP)
Achalasia  (IAGP)
Agenesis of corpus callosum  (IAGP)
Anteverted nares  (IAGP)
Aortic valve stenosis  (IAGP)
Aplasia/Hypoplasia of the breasts  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bicuspid aortic valve  (IAGP)
Blindness  (IAGP)
Cataract  (IAGP)
Cerebral cortical hemiatrophy  (IAGP)
Chorioretinal coloboma  (IAGP)
Cleft palate  (IAGP)
Cleft upper lip  (IAGP)
Coarse facial features  (IAGP)
Cryptorchidism  (IAGP)
Death in early adulthood  (IAGP)
Delayed cranial suture closure  (IAGP)
Depressed nasal tip  (IAGP)
Downslanted palpebral fissures  (IAGP)
Duplication of phalanx of hallux  (IAGP)
Duplication of thumb phalanx  (IAGP)
Dysphagia  (IAGP)
Dysphasia  (IAGP)
Echolalia  (IAGP)
Epicanthus  (IAGP)
Euryblepharon  (IAGP)
Externally rotated hips  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Full cheeks  (IAGP)
Generalized dystonia  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hamartoma  (IAGP)
Heterochromia iridis  (IAGP)
High forehead  (IAGP)
Highly arched eyebrow  (IAGP)
Hydronephrosis  (IAGP)
Hydroureter  (IAGP)
Hypermelanotic macule  (IAGP)
Hypertelorism  (IAGP)
Hypoplastic labia minora  (IAGP)
Hypoplastic scapulae  (IAGP)
Hypotonia  (IAGP)
Immunodeficiency  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Iris coloboma  (IAGP)
Joint stiffness  (IAGP)
Kyphoscoliosis  (IAGP)
Kyphosis  (IAGP)
Large fontanelles  (IAGP)
Lipoatrophy  (IAGP)
Long nose  (IAGP)
Long palpebral fissure  (IAGP)
Long philtrum  (IAGP)
Low posterior hairline  (IAGP)
Low-set ears  (IAGP)
Lower limb asymmetry  (IAGP)
Macroglossia  (IAGP)
Macrogyria  (IAGP)
Mental deterioration  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Micrognathia  (IAGP)
Micromelia  (IAGP)
Micropenis  (IAGP)
Microphthalmia  (IAGP)
Midface retrusion  (IAGP)
Mild global developmental delay  (IAGP)
Mutism  (IAGP)
Optic disc coloboma  (IAGP)
Oral cleft  (IAGP)
Osteochondrosis  (IAGP)
Overfolded helix  (IAGP)
Pachygyria  (IAGP)
Palpebral edema  (IAGP)
Patent ductus arteriosus  (IAGP)
Pectus carinatum  (IAGP)
Pectus excavatum  (IAGP)
Pointed chin  (IAGP)
Polymicrogyria  (IAGP)
Postnatal growth retardation  (IAGP)
Prominent metopic ridge  (IAGP)
Prominent nose  (IAGP)
Ptosis  (IAGP)
Retinoschisis  (IAGP)
Retrognathia  (IAGP)
Rib fusion  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short columella  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Shoulder girdle muscle atrophy  (IAGP)
Skeletal dysplasia  (IAGP)
Small for gestational age  (IAGP)
Specific learning disability  (IAGP)
Spina bifida occulta  (IAGP)
Subcortical cerebral atrophy  (IAGP)
Supernumerary nipple  (IAGP)
Supernumerary ribs  (IAGP)
Telecanthus  (IAGP)
Thin upper lip vermilion  (IAGP)
Thin vermilion border  (IAGP)
Transient ischemic attack  (IAGP)
Trigonocephaly  (IAGP)
Upper limb asymmetry  (IAGP)
Ventriculomegaly  (IAGP)
Webbed neck  (IAGP)
Wide mouth  (IAGP)
Wide nasal bridge  (IAGP)
Wide nose  (IAGP)
References

Additional References at PubMed
PMID:274701   PMID:435297   PMID:1540415   PMID:1555776   PMID:1629950   PMID:1662743   PMID:1734024   PMID:1907279   PMID:1991513   PMID:2155660   PMID:2837653   PMID:2994062  
PMID:3335520   PMID:3842206   PMID:6202424   PMID:6304075   PMID:6322116   PMID:6686106   PMID:6842590   PMID:6865942   PMID:7103951   PMID:7535922   PMID:7820861   PMID:7821789  
PMID:7876306   PMID:7876308   PMID:7929073   PMID:8050815   PMID:8125298   PMID:8228254   PMID:8319567   PMID:8341682   PMID:8547189   PMID:8605189   PMID:8619402   PMID:8639502  
PMID:8661406   PMID:8761950   PMID:8780737   PMID:8889548   PMID:8892894   PMID:8913639   PMID:8941379   PMID:8997639   PMID:9013719   PMID:9108196   PMID:9150887   PMID:9209005  
PMID:9245787   PMID:9252372   PMID:9268132   PMID:9288906   PMID:9295142   PMID:9359436   PMID:9463375   PMID:9487115   PMID:9525888   PMID:9563518   PMID:9676236   PMID:9679146  
PMID:9686908   PMID:9739080   PMID:9813091   PMID:9841925   PMID:9845365   PMID:9847074   PMID:9848085   PMID:9848710   PMID:9971772   PMID:10049817   PMID:10074138   PMID:10078207  
PMID:10381382   PMID:10403844   PMID:10411937   PMID:10470015   PMID:10470109   PMID:10547355   PMID:10556093   PMID:10600384   PMID:10601251   PMID:10604479   PMID:10677499   PMID:10683146  
PMID:10748209   PMID:10773068   PMID:10787407   PMID:10792467   PMID:10833443   PMID:10851017   PMID:10866806   PMID:10945978   PMID:10966108   PMID:11027608   PMID:11029056   PMID:11078522  
PMID:11238447   PMID:11257002   PMID:11326315   PMID:11350761   PMID:11357136   PMID:11373276   PMID:11415434   PMID:11461920   PMID:11487543   PMID:11532003   PMID:11533442   PMID:11535601  
PMID:11563969   PMID:11579089   PMID:11580269   PMID:11583571   PMID:11673475   PMID:11682052   PMID:11687588   PMID:11691822   PMID:11696420   PMID:11707406   PMID:11709093   PMID:11721045  
PMID:11787062   PMID:11790298   PMID:11812134   PMID:11832213   PMID:11839798   PMID:11846445   PMID:11854414   PMID:11889126   PMID:11937625   PMID:11940582   PMID:11950601   PMID:11950878  
PMID:11955010   PMID:11964161   PMID:11983702   PMID:12009869   PMID:12029088   PMID:12062430   PMID:12080081   PMID:12082080   PMID:12202484   PMID:12388067   PMID:12435603   PMID:12456645  
PMID:12470643   PMID:12477932   PMID:12522145   PMID:12547197   PMID:12591166   PMID:12639940   PMID:12665555   PMID:12665801   PMID:12670476   PMID:12673016   PMID:12679033   PMID:12704194  
PMID:12853948   PMID:12857853   PMID:12963728   PMID:14532270   PMID:14592989   PMID:14597672   PMID:14623863   PMID:14634002   PMID:14694110   PMID:14702039   PMID:14729568   PMID:14744259  
PMID:14760703   PMID:14966270   PMID:15009096   PMID:15009185   PMID:15047060   PMID:15101111   PMID:15107502   PMID:15111311   PMID:15121898   PMID:15135048   PMID:15140972   PMID:15161933  
PMID:15208678   PMID:15215896   PMID:15231747   PMID:15231748   PMID:15328537   PMID:15361876   PMID:15371598   PMID:15489334   PMID:15502823   PMID:15527767   PMID:15555571   PMID:15556561  
PMID:15558034   PMID:15574586   PMID:15592455   PMID:15673434   PMID:15710247   PMID:15711563   PMID:15746964   PMID:15834686   PMID:15862967   PMID:15897890   PMID:15940343   PMID:15952740  
PMID:16021519   PMID:16049941   PMID:16091223   PMID:16101678   PMID:16105984   PMID:16130169   PMID:16146415   PMID:16148048   PMID:16179592   PMID:16186248   PMID:16189514   PMID:16210567  
PMID:16217013   PMID:16226712   PMID:16289162   PMID:16364312   PMID:16375898   PMID:16415883   PMID:16502470   PMID:16526095   PMID:16536728   PMID:16549430   PMID:16685646   PMID:16687403  
PMID:16762366   PMID:16824795   PMID:16944923   PMID:17181997   PMID:17192268   PMID:17289661   PMID:17342765   PMID:17353003   PMID:17360745   PMID:17373842   PMID:17404223   PMID:17411366  
PMID:17502619   PMID:17504171   PMID:17548472   PMID:17573780   PMID:17599063   PMID:17620012   PMID:17620599   PMID:17643375   PMID:17643423   PMID:17651734   PMID:17676665   PMID:17683050  
PMID:17823310   PMID:17868192   PMID:17939680   PMID:17955473   PMID:18000879   PMID:18160415   PMID:18234857   PMID:18261463   PMID:18320585   PMID:18331289   PMID:18341992   PMID:18364388  
PMID:18443296   PMID:18457437   PMID:18478542   PMID:18533937   PMID:18562541   PMID:18654668   PMID:18680169   PMID:18710935   PMID:18775311   PMID:18809673   PMID:19000816   PMID:19008859  
PMID:19037095   PMID:19041431   PMID:19167051   PMID:19190083   PMID:19199708   PMID:19309309   PMID:19322201   PMID:19328794   PMID:19338310   PMID:19380743   PMID:19451231   PMID:19475567  
PMID:19477923   PMID:19538885   PMID:19638415   PMID:19639585   PMID:19710135   PMID:19725029   PMID:19738201   PMID:19778628   PMID:19802004   PMID:19883584   PMID:19895707   PMID:19928837  
PMID:19946888   PMID:20081228   PMID:20111909   PMID:20131911   PMID:20147394   PMID:20197409   PMID:20201613   PMID:20308691   PMID:20348541   PMID:20381070   PMID:20383143   PMID:20391533  
PMID:20458337   PMID:20467437   PMID:20473970   PMID:20618440   PMID:20804785   PMID:20856200   PMID:20876399   PMID:20946988   PMID:21044950   PMID:21045147   PMID:21081503   PMID:21145461  
PMID:21163940   PMID:21172822   PMID:21182203   PMID:21182205   PMID:21203488   PMID:21221983   PMID:21300803   PMID:21319273   PMID:21362503   PMID:21423176   PMID:21455487   PMID:21516116  
PMID:21555369   PMID:21565611   PMID:21575865   PMID:21577206   PMID:21668410   PMID:21670154   PMID:21726808   PMID:21734401   PMID:21800051   PMID:21873635   PMID:21890413   PMID:21900206  
PMID:21917091   PMID:21923909   PMID:21942715   PMID:21951318   PMID:21969592   PMID:21988832   PMID:22004035   PMID:22038833   PMID:22079093   PMID:22234250   PMID:22272336   PMID:22285204  
PMID:22323290   PMID:22323606   PMID:22366308   PMID:22366783   PMID:22465675   PMID:22516433   PMID:22535526   PMID:22573825   PMID:22623428   PMID:22623727   PMID:22640593   PMID:22664934  
PMID:22720799   PMID:22721673   PMID:22751105   PMID:22855531   PMID:22898364   PMID:22915798   PMID:22926577   PMID:22939629   PMID:22944692   PMID:22961449   PMID:22989508   PMID:23017337  
PMID:23071112   PMID:23084401   PMID:23091630   PMID:23100250   PMID:23125841   PMID:23184937   PMID:23221571   PMID:23246001   PMID:23260110   PMID:23266771   PMID:23294842   PMID:23326330  
PMID:23382103   PMID:23383273   PMID:23395798   PMID:23398456   PMID:23428871   PMID:23443559   PMID:23447706   PMID:23463506   PMID:23466368   PMID:23482560   PMID:23533145   PMID:23535377  
PMID:23575248   PMID:23580065   PMID:23756437   PMID:23811015   PMID:23825951   PMID:23874603   PMID:23875777   PMID:24040060   PMID:24068947   PMID:24129186   PMID:24189400   PMID:24225952  
PMID:24244333   PMID:24327345   PMID:24332808   PMID:24337577   PMID:24415753   PMID:24591637   PMID:24625528   PMID:24639526   PMID:24657165   PMID:24742657   PMID:24766723   PMID:24768539  
PMID:24789788   PMID:24789789   PMID:24798327   PMID:24826067   PMID:24962707   PMID:25112714   PMID:25144556   PMID:25192599   PMID:25255767   PMID:25324306   PMID:25336651   PMID:25342804  
PMID:25416956   PMID:25419715   PMID:25423367   PMID:25437307   PMID:25450970   PMID:25458010   PMID:25502805   PMID:25670202   PMID:25678563   PMID:25690657   PMID:25712891   PMID:25737280  
PMID:25753039   PMID:25773886   PMID:25798074   PMID:25910212   PMID:26167880   PMID:26186194   PMID:26209609   PMID:26210823   PMID:26217791   PMID:26344197   PMID:26362536   PMID:26465331  
PMID:26465922   PMID:26496610   PMID:26506232   PMID:26514267   PMID:26583190   PMID:26713879   PMID:26979993   PMID:26980027   PMID:27025967   PMID:27107014   PMID:27129302   PMID:27153538  
PMID:27197753   PMID:27371349   PMID:27377895   PMID:27512140   PMID:27545878   PMID:27560372   PMID:27591049   PMID:27607350   PMID:27609421   PMID:27625340   PMID:27633570   PMID:27798963  
PMID:27866048   PMID:27880917   PMID:28194011   PMID:28225217   PMID:28298427   PMID:28302793   PMID:28330616   PMID:28378594   PMID:28386764   PMID:28394935   PMID:28514442   PMID:28515276  
PMID:28533407   PMID:28581483   PMID:28604741   PMID:28734243   PMID:28747635   PMID:28902428   PMID:28931009   PMID:28977666   PMID:28986522   PMID:29141220   PMID:29150539   PMID:29158164  
PMID:29180619   PMID:29220674   PMID:29229926   PMID:29274487   PMID:29309307   PMID:29331416   PMID:29467282   PMID:29477555   PMID:29507755   PMID:29511337   PMID:29563501   PMID:29669786  
PMID:29715546   PMID:29735542   PMID:29777862   PMID:29845934   PMID:29892012   PMID:29924966   PMID:29969578   PMID:30009671   PMID:30021884   PMID:30097533   PMID:30217970   PMID:30256258  
PMID:30258100   PMID:30259794   PMID:30280653   PMID:30344098   PMID:30349055   PMID:30367047   PMID:30407695   PMID:30419336   PMID:30425250   PMID:30459475   PMID:30463901   PMID:30575818  
PMID:30643008   PMID:30690837   PMID:30719818   PMID:30725116   PMID:30737378   PMID:30745168   PMID:30785395   PMID:30804502   PMID:30809309   PMID:30886144   PMID:30890647   PMID:30940648  
PMID:30997501   PMID:31010829   PMID:31180492   PMID:31267705   PMID:31280863   PMID:31300519   PMID:31327802   PMID:31353912   PMID:31462707   PMID:31470122   PMID:31501420   PMID:31515488  
PMID:31527615   PMID:31527668   PMID:31536960   PMID:31567194   PMID:31601781   PMID:31620119   PMID:31659016   PMID:31665637   PMID:31796584   PMID:31846694   PMID:31898838   PMID:31952546  
PMID:31980649   PMID:31995728   PMID:32015554   PMID:32041737   PMID:32051585   PMID:32129710   PMID:32170967   PMID:32176739   PMID:32238831   PMID:32269044   PMID:32296183   PMID:32326615  
PMID:32349449   PMID:32397190   PMID:32416241   PMID:32506774   PMID:32513696   PMID:32521226   PMID:32529326   PMID:32552912   PMID:32588558   PMID:32780723   PMID:32783943   PMID:32786267  
PMID:32807901   PMID:32814053   PMID:32929329   PMID:32994395   PMID:33005030   PMID:33024031   PMID:33194618   PMID:33226137   PMID:33257806   PMID:33334799   PMID:34079125  


Genomics

Comparative Map Data
ACTB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl75,526,409 - 5,563,902 (-)EnsemblGRCh38hg38GRCh38
GRCh3875,527,148 - 5,530,601 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3775,566,779 - 5,570,232 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3675,533,312 - 5,536,747 (-)NCBINCBI36hg18NCBI36
Build 3475,340,026 - 5,343,462NCBI
Celera75,526,560 - 5,530,009 (-)NCBI
Cytogenetic Map7p22.1NCBI
HuRef75,479,343 - 5,482,774 (-)NCBIHuRef
CHM1_175,566,362 - 5,569,815 (-)NCBICHM1_1
CRA_TCAGchr7v275,613,124 - 5,616,577 (-)NCBI
Actb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395142,888,870 - 142,892,509 (-)NCBIGRCm39mm39
GRCm39 Ensembl5142,888,870 - 142,892,509 (-)Ensembl
GRCm385142,903,115 - 142,907,976 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5142,903,115 - 142,906,754 (-)EnsemblGRCm38mm10GRCm38
MGSCv375143,664,795 - 143,668,403 (-)NCBIGRCm37mm9NCBIm37
MGSCv365143,168,256 - 143,171,864 (-)NCBImm8
Celera5139,951,533 - 139,955,141 (-)NCBICelera
Cytogenetic Map5G2NCBI
cM Map581.8NCBI
Actb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21211,663,112 - 11,666,697 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1211,663,109 - 11,672,877 (+)Ensembl
Rnor_6.01213,715,843 - 13,718,813 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1213,715,843 - 13,718,841 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01215,745,856 - 15,749,440 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41212,047,070 - 12,050,040 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11212,076,997 - 12,079,967 (+)NCBI
Celera1213,452,443 - 13,455,413 (+)NCBICelera
Cytogenetic Map12p11NCBI
Actb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546010,356,699 - 10,361,585 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495546010,358,100 - 10,361,585 (-)NCBIChiLan1.0ChiLan1.0
ACTB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1612,421,006 - 12,424,449 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl612,418,932 - 12,462,845 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha613,893,047 - 13,896,436 (+)NCBI
ROS_Cfam_1.0612,557,673 - 12,561,075 (+)NCBI
UMICH_Zoey_3.1612,367,765 - 12,371,152 (+)NCBI
UNSW_CanFamBas_1.0612,301,595 - 12,304,986 (+)NCBI
UU_Cfam_GSD_1.0612,578,988 - 12,582,384 (+)NCBI
Actb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344140,675,973 - 140,679,567 (+)NCBI
SpeTri2.0NW_004936765667,107 - 670,627 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACTB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl34,082,216 - 4,090,356 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.134,084,275 - 4,090,383 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.234,729,278 - 4,732,693 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ACTB
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12816,195,676 - 16,197,161 (+)NCBIChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660905,777,528 - 5,781,244 (-)NCBIVero_WHO_p1.0
Actb
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474028,087,051 - 28,090,359 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
PMC109669P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3775,567,384 - 5,568,196UniSTSGRCh37
GRCh371779,477,721 - 79,478,498UniSTSGRCh37
Build 3675,533,910 - 5,534,722RGDNCBI36
Celera75,527,165 - 5,527,977RGD
HuRef1774,926,537 - 74,927,314UniSTS
HuRef75,479,948 - 5,480,760UniSTS
CRA_TCAGchr7v275,613,729 - 5,614,541UniSTS
PMC21334P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3775,566,807 - 5,567,234UniSTSGRCh37
GRCh3796,835,721 - 6,836,141UniSTSGRCh37
Build 3675,533,333 - 5,533,760RGDNCBI36
Celera96,766,517 - 6,766,937UniSTS
Celera75,526,588 - 5,527,015RGD
HuRef96,791,626 - 6,792,046UniSTS
HuRef75,479,371 - 5,479,798UniSTS
CRA_TCAGchr7v275,613,152 - 5,613,579UniSTS
PMC26753P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3775,567,497 - 5,568,146UniSTSGRCh37
GRCh37577,081,274 - 77,081,715UniSTSGRCh37
Build 36577,117,030 - 77,117,471RGDNCBI36
Celera572,975,284 - 72,975,725RGD
Celera75,527,278 - 5,527,927UniSTS
HuRef75,480,061 - 5,480,710UniSTS
HuRef572,288,159 - 72,288,600UniSTS
CRA_TCAGchr7v275,613,842 - 5,614,491UniSTS
PMC317352P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3775,568,878 - 5,569,264UniSTSGRCh37
Build 3675,535,404 - 5,535,790RGDNCBI36
Celera75,528,659 - 5,529,045UniSTS
Celera572,974,745 - 72,974,997RGD
HuRef75,481,442 - 5,481,828UniSTS
HuRef572,287,620 - 72,287,872UniSTS
CRA_TCAGchr7v275,615,223 - 5,615,609UniSTS
PMC86716P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37577,080,852 - 77,080,954UniSTSGRCh37
Build 36577,116,608 - 77,116,710RGDNCBI36
Celera572,974,862 - 72,974,964RGD
HuRef572,287,737 - 72,287,839UniSTS
HuRef1194,664,276 - 194,664,377UniSTS
REN115794  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,824,400 - 1,824,631UniSTSGRCh37
GRCh3775,567,772 - 5,568,005UniSTSGRCh37
Build 3675,534,298 - 5,534,531RGDNCBI36
Celera75,527,553 - 5,527,786RGD
Celera111,862,257 - 1,862,488UniSTS
Cytogenetic Map7p22UniSTS
HuRef111,615,378 - 1,615,609UniSTS
HuRef75,480,336 - 5,480,569UniSTS
CRA_TCAGchr7v275,614,117 - 5,614,350UniSTS
ACTB-L  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372132,383,935 - 132,384,177UniSTSGRCh37
GRCh37577,080,934 - 77,081,176UniSTSGRCh37
Build 362132,100,405 - 132,100,647RGDNCBI36
Celera2126,108,617 - 126,108,859RGD
Celera572,974,944 - 72,975,186UniSTS
HuRef572,287,819 - 72,288,061UniSTS
HuRef2124,377,222 - 124,377,464UniSTS
RI01350  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,172,554 - 53,172,740UniSTSGRCh37
Build 36X53,189,279 - 53,189,465RGDNCBI36
CeleraX57,001,800 - 57,001,986RGD
HuRefX50,237,505 - 50,237,691UniSTS
G15871  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7p22UniSTS
GDB:624560  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3775,567,387 - 5,568,039UniSTSGRCh37
Celera75,527,168 - 5,527,820UniSTS
Cytogenetic Map7p22UniSTS
HuRef75,479,951 - 5,480,603UniSTS
CRA_TCAGchr7v275,613,732 - 5,614,384UniSTS
PMC108612P1  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17q25UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p22UniSTS
PMC109445P1  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map5q14.1UniSTS
PMC110143P1  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map7p22UniSTS
PMC117780P1  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7p22UniSTS
Cytogenetic Map17q25UniSTS
PMC129447P1  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17q25UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map7p22UniSTS
PMC133998P8  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15q14UniSTS
Cytogenetic Map1p21.1UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map7p22UniSTS
PMC151817P1  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7p22UniSTS
Cytogenetic Map5q14.1UniSTS
G49387  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7p22UniSTS
Cytogenetic Map5q14.1UniSTS
PMC23952P1  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map10q23.3UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q11.2UniSTS
PMC24561P1  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7p22UniSTS
Cytogenetic Map5q14.1UniSTS
PMC24942P1  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7p22UniSTS
PMC305873P2  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17q25UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map7p22UniSTS
PMC85795P4  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7p22UniSTS
Cytogenetic Map17q25UniSTS
ECD18704  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7p22UniSTS
Cytogenetic Map5q14.1UniSTS
PMC109689P1  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7p22UniSTS
PMC110200P1  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7p22UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR1295Ahsa-miR-1295aMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:3411
Count of miRNA genes:908
Interacting mature miRNAs:1081
Transcripts:ENST00000331789, ENST00000414620, ENST00000417101, ENST00000425660, ENST00000432588, ENST00000443528, ENST00000462494, ENST00000464611, ENST00000473257, ENST00000477812, ENST00000480301, ENST00000484841, ENST00000493945
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 2363 2402 1342 352 1902 221 3552 1016 2723 355 1264 1592 145 1203 2006 3
Medium 69 582 381 270 46 243 803 1179 986 63 184 17 26 1 782 1
Low 7 7 3 2 3 1 2 2 25 1 12 4 4 1 2 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC006483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK058019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY582799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU736098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS081475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D28354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC327656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ407611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ471327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF036500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF095209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB571104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB668235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GN346972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  K00790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC461677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M10277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M28424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  V00478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X00351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X63432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000414620   ⟹   ENSP00000401032
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl75,529,282 - 5,562,790 (-)Ensembl
RefSeq Acc Id: ENST00000417101   ⟹   ENSP00000399487
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl75,529,235 - 5,529,982 (-)Ensembl
RefSeq Acc Id: ENST00000425660   ⟹   ENSP00000409264
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl75,527,156 - 5,530,601 (-)Ensembl
RefSeq Acc Id: ENST00000432588   ⟹   ENSP00000407473
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl75,527,798 - 5,530,627 (-)Ensembl
RefSeq Acc Id: ENST00000443528   ⟹   ENSP00000393951
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl75,529,216 - 5,562,828 (-)Ensembl
RefSeq Acc Id: ENST00000462494
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl75,527,156 - 5,530,601 (-)Ensembl
RefSeq Acc Id: ENST00000464611   ⟹   ENSP00000495059
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl75,527,151 - 5,528,098 (-)Ensembl
RefSeq Acc Id: ENST00000473257
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl75,527,147 - 5,530,604 (-)Ensembl
RefSeq Acc Id: ENST00000477812
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl75,527,152 - 5,530,590 (-)Ensembl
RefSeq Acc Id: ENST00000480301
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl75,529,067 - 5,530,583 (-)Ensembl
RefSeq Acc Id: ENST00000484841
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl75,528,717 - 5,530,601 (-)Ensembl
RefSeq Acc Id: ENST00000493945   ⟹   ENSP00000494269
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl75,527,536 - 5,530,602 (-)Ensembl
RefSeq Acc Id: ENST00000642480   ⟹   ENSP00000495995
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl75,527,147 - 5,529,949 (-)Ensembl
RefSeq Acc Id: ENST00000645025
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl75,528,934 - 5,530,600 (-)Ensembl
RefSeq Acc Id: ENST00000645576   ⟹   ENSP00000496101
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl75,528,011 - 5,530,597 (-)Ensembl
RefSeq Acc Id: ENST00000646584
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl75,561,852 - 5,562,716 (-)Ensembl
RefSeq Acc Id: ENST00000646664   ⟹   ENSP00000494750
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl75,527,148 - 5,530,601 (-)Ensembl
RefSeq Acc Id: ENST00000647275   ⟹   ENSP00000494185
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl75,528,150 - 5,530,604 (-)Ensembl
RefSeq Acc Id: ENST00000674681   ⟹   ENSP00000502821
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl75,526,409 - 5,530,601 (-)Ensembl
RefSeq Acc Id: ENST00000675515   ⟹   ENSP00000501862
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl75,527,152 - 5,563,902 (-)Ensembl
RefSeq Acc Id: ENST00000676189   ⟹   ENSP00000502538
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl75,527,147 - 5,530,604 (-)Ensembl
RefSeq Acc Id: ENST00000676319   ⟹   ENSP00000502193
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl75,527,147 - 5,530,604 (-)Ensembl
RefSeq Acc Id: ENST00000676397   ⟹   ENSP00000502286
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl75,527,147 - 5,530,581 (-)Ensembl
RefSeq Acc Id: NM_001101   ⟹   NP_001092
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3875,527,148 - 5,530,601 (-)NCBI
GRCh3775,566,779 - 5,570,232 (-)ENTREZGENE
Build 3675,533,312 - 5,536,747 (-)NCBI Archive
HuRef75,479,343 - 5,482,774 (-)ENTREZGENE
CHM1_175,566,362 - 5,569,815 (-)NCBI
CRA_TCAGchr7v275,613,124 - 5,616,577 (-)ENTREZGENE
Sequence:
Protein Sequences
Protein RefSeqs NP_001092 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA51567 (Get FASTA)   NCBI Sequence Viewer  
  AAA51578 (Get FASTA)   NCBI Sequence Viewer  
  AAB16906 (Get FASTA)   NCBI Sequence Viewer  
  AAH01301 (Get FASTA)   NCBI Sequence Viewer  
  AAH02409 (Get FASTA)   NCBI Sequence Viewer  
  AAH04251 (Get FASTA)   NCBI Sequence Viewer  
  AAH08633 (Get FASTA)   NCBI Sequence Viewer  
  AAH12854 (Get FASTA)   NCBI Sequence Viewer  
  AAH13380 (Get FASTA)   NCBI Sequence Viewer  
  AAH14861 (Get FASTA)   NCBI Sequence Viewer  
  AAH16045 (Get FASTA)   NCBI Sequence Viewer  
  AAI13037 (Get FASTA)   NCBI Sequence Viewer  
  AAP22343 (Get FASTA)   NCBI Sequence Viewer  
  AAS79319 (Get FASTA)   NCBI Sequence Viewer  
  AAX82251 (Get FASTA)   NCBI Sequence Viewer  
  ABD66582 (Get FASTA)   NCBI Sequence Viewer  
  ABF01018 (Get FASTA)   NCBI Sequence Viewer  
  ABL01513 (Get FASTA)   NCBI Sequence Viewer  
  ABO65086 (Get FASTA)   NCBI Sequence Viewer  
  BAA05720 (Get FASTA)   NCBI Sequence Viewer  
  BAD96645 (Get FASTA)   NCBI Sequence Viewer  
  BAD96752 (Get FASTA)   NCBI Sequence Viewer  
  BAD96775 (Get FASTA)   NCBI Sequence Viewer  
  BAG62914 (Get FASTA)   NCBI Sequence Viewer  
  BAG65347 (Get FASTA)   NCBI Sequence Viewer  
  BAH14732 (Get FASTA)   NCBI Sequence Viewer  
  BBJ35449 (Get FASTA)   NCBI Sequence Viewer  
  CAA23745 (Get FASTA)   NCBI Sequence Viewer  
  CAA25099 (Get FASTA)   NCBI Sequence Viewer  
  CAA45026 (Get FASTA)   NCBI Sequence Viewer  
  CAI95947 (Get FASTA)   NCBI Sequence Viewer  
  CAR95103 (Get FASTA)   NCBI Sequence Viewer  
  CAS92761 (Get FASTA)   NCBI Sequence Viewer  
  CAY56012 (Get FASTA)   NCBI Sequence Viewer  
  EAW87341 (Get FASTA)   NCBI Sequence Viewer  
  EAW87343 (Get FASTA)   NCBI Sequence Viewer  
  P60709 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001092   ⟸   NM_001101
- UniProtKB: P60709 (UniProtKB/Swiss-Prot),   Q1KLZ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000495059   ⟸   ENST00000464611
RefSeq Acc Id: ENSP00000409264   ⟸   ENST00000425660
RefSeq Acc Id: ENSP00000401032   ⟸   ENST00000414620
RefSeq Acc Id: ENSP00000494269   ⟸   ENST00000493945
RefSeq Acc Id: ENSP00000399487   ⟸   ENST00000417101
RefSeq Acc Id: ENSP00000393951   ⟸   ENST00000443528
RefSeq Acc Id: ENSP00000495995   ⟸   ENST00000642480
RefSeq Acc Id: ENSP00000407473   ⟸   ENST00000432588
RefSeq Acc Id: ENSP00000496101   ⟸   ENST00000645576
RefSeq Acc Id: ENSP00000494750   ⟸   ENST00000646664
RefSeq Acc Id: ENSP00000494185   ⟸   ENST00000647275
RefSeq Acc Id: ENSP00000502821   ⟸   ENST00000674681
RefSeq Acc Id: ENSP00000501862   ⟸   ENST00000675515
RefSeq Acc Id: ENSP00000502538   ⟸   ENST00000676189
RefSeq Acc Id: ENSP00000502286   ⟸   ENST00000676397
RefSeq Acc Id: ENSP00000502193   ⟸   ENST00000676319

Promoters
RGD ID:7209869
Promoter ID:EPDNEW_H10679
Type:initiation region
Name:ACTB_1
Description:actin beta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3875,530,601 - 5,530,661EPDNEW
RGD ID:6805214
Promoter ID:HG_KWN:56163
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000324022,   OTTHUMT00000324085,   OTTHUMT00000324086,   UC003SOR.2,   UC003SOS.2
Position:
Human AssemblyChrPosition (strand)Source
Build 3675,534,211 - 5,536,677 (-)MPROMDB
RGD ID:6805215
Promoter ID:HG_KWN:56164
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000059589,   OTTHUMT00000324021,   OTTHUMT00000324023,   OTTHUMT00000324024,   OTTHUMT00000324025,   OTTHUMT00000324029,   UC003SOQ.2,   UC010KSY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3675,536,686 - 5,537,852 (-)MPROMDB
RGD ID:6849466
Promoter ID:EP17045
Type:single initiation site
Name:HS_ACTB
Description:beta-actin.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 19; Mammalian, avian beta-actin.
Tissues & Cell Lines:housekeeping gene
Experiment Methods:Nuclease protection with homologous sequence ladder; Nuclease protection; transfected or transformed cells
Position:
Human AssemblyChrPosition (strand)Source
Build 3675,536,760 - 5,536,820EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001101.5(ACTB):c.193C>T (p.Leu65Phe) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000133564]|Intellectual disability [RCV001249485] Chr7:5529331 [GRCh38]
Chr7:5568962 [GRCh37]
Chr7:7p22.1
pathogenic
NM_001101.5(ACTB):c.209C>T (p.Pro70Leu) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000133565]|not provided [RCV001268259] Chr7:5529315 [GRCh38]
Chr7:5568946 [GRCh37]
Chr7:7p22.1
pathogenic|likely pathogenic
NM_001101.5(ACTB):c.220G>A (p.Gly74Ser) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000133566]|not provided [RCV000327760] Chr7:5529304 [GRCh38]
Chr7:5568935 [GRCh37]
Chr7:7p22.1
pathogenic|likely pathogenic
NM_001101.5(ACTB):c.224T>C (p.Ile75Thr) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000133567]|not provided [RCV000519582] Chr7:5529300 [GRCh38]
Chr7:5568931 [GRCh37]
Chr7:7p22.1
pathogenic|likely pathogenic
NM_001101.5(ACTB):c.307G>C (p.Val103Leu) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000133568]|Baraitser-Winter syndrome [RCV000798607] Chr7:5529217 [GRCh38]
Chr7:5568848 [GRCh37]
Chr7:7p22.1
pathogenic|uncertain significance
NM_001101.5(ACTB):c.34A>C (p.Asn12His) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000133569] Chr7:5529624 [GRCh38]
Chr7:5569255 [GRCh37]
Chr7:7p22.1
pathogenic
NM_001101.5(ACTB):c.356T>C (p.Met119Thr) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000133570] Chr7:5529168 [GRCh38]
Chr7:5568799 [GRCh37]
Chr7:7p22.1
pathogenic
NM_001101.5(ACTB):c.359C>T (p.Thr120Ile) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000133571] Chr7:5529165 [GRCh38]
Chr7:5568796 [GRCh37]
Chr7:7p22.1
pathogenic
NM_001101.5(ACTB):c.446C>T (p.Thr149Ile) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000133572] Chr7:5528637 [GRCh38]
Chr7:5568268 [GRCh37]
Chr7:7p22.1
pathogenic
NM_001101.5(ACTB):c.586C>A (p.Arg196Ser) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000133573] Chr7:5528497 [GRCh38]
Chr7:5568128 [GRCh37]
Chr7:7p22.1
pathogenic
NM_001101.5(ACTB):c.611C>G (p.Ala204Gly) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000133574] Chr7:5528472 [GRCh38]
Chr7:5568103 [GRCh37]
Chr7:7p22.1
pathogenic
NM_001101.5(ACTB):c.*260G>A single nucleotide variant not provided [RCV001544728] Chr7:5527488 [GRCh38]
Chr7:5567119 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.882C>T (p.Tyr294=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000553222] Chr7:5528106 [GRCh38]
Chr7:5567737 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.258G>C (p.Trp86Cys) single nucleotide variant not provided [RCV000520817] Chr7:5529266 [GRCh38]
Chr7:5568897 [GRCh37]
Chr7:7p22.1
likely pathogenic|uncertain significance
NM_001101.5(ACTB):c.587G>A (p.Arg196His) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000022439]|not provided [RCV000059721] Chr7:5528496 [GRCh38]
Chr7:5568127 [GRCh37]
Chr7:7p22.1
pathogenic|not provided
NM_001101.5(ACTB):c.586C>T (p.Arg196Cys) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000022440]|not provided [RCV000059720] Chr7:5528497 [GRCh38]
Chr7:5568128 [GRCh37]
Chr7:7p22.1
pathogenic|likely pathogenic|not provided
NM_001101.5(ACTB):c.193C>G (p.Leu65Val) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000022441]|not provided [RCV000059718] Chr7:5529331 [GRCh38]
Chr7:5568962 [GRCh37]
Chr7:7p22.1
pathogenic|not provided
NM_001101.5(ACTB):c.34A>G (p.Asn12Asp) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000022442]|not provided [RCV000059719] Chr7:5529624 [GRCh38]
Chr7:5569255 [GRCh37]
Chr7:7p22.1
pathogenic|not provided
NM_001101.5(ACTB):c.547C>T (p.Arg183Trp) single nucleotide variant ACTB-related BAFopathy [RCV001533046]|Baraitser-Winter syndrome 1 [RCV000503778]|Developmental malformations-deafness-dystonia syndrome [RCV000019937]|Inborn genetic diseases [RCV000624662]|not provided [RCV000680718] Chr7:5528536 [GRCh38]
Chr7:5568167 [GRCh37]
Chr7:7p22.1
pathogenic|likely pathogenic
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1
pathogenic
GRCh38/hg38 7p22.1(chr7:5062000-6692258)x1 copy number loss See cases [RCV000052256] Chr7:5062000..6692258 [GRCh38]
Chr7:5101631..6731889 [GRCh37]
Chr7:5068157..6698414 [NCBI36]
Chr7:7p22.1
pathogenic
GRCh38/hg38 7p22.1(chr7:5062000-5825183)x1 copy number loss See cases [RCV000052263] Chr7:5062000..5825183 [GRCh38]
Chr7:5101631..5864814 [GRCh37]
Chr7:5068157..5831340 [NCBI36]
Chr7:7p22.1
pathogenic
GRCh38/hg38 7p22.1(chr7:5117519-5880375)x1 copy number loss See cases [RCV000052266] Chr7:5117519..5880375 [GRCh38]
Chr7:5157150..5920006 [GRCh37]
Chr7:5123676..5886532 [NCBI36]
Chr7:7p22.1
pathogenic
GRCh38/hg38 7p22.1(chr7:5331115-6031221)x1 copy number loss See cases [RCV000052268] Chr7:5331115..6031221 [GRCh38]
Chr7:5370746..6070852 [GRCh37]
Chr7:5337272..6037378 [NCBI36]
Chr7:7p22.1
pathogenic
GRCh38/hg38 7p22.1(chr7:5497215-5531287)x1 copy number loss See cases [RCV000052270] Chr7:5497215..5531287 [GRCh38]
Chr7:5536846..5570918 [GRCh37]
Chr7:5503372..5537444 [NCBI36]
Chr7:7p22.1
pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1 copy number loss See cases [RCV000052249] Chr7:45130..5880375 [GRCh38]
Chr7:45130..5920006 [GRCh37]
Chr7:140213..5886532 [NCBI36]
Chr7:7p22.3-22.1
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p22.1(chr7:4876621-6492003)x3 copy number gain See cases [RCV000053408] Chr7:4876621..6492003 [GRCh38]
Chr7:4916252..6531634 [GRCh37]
Chr7:4882778..6498159 [NCBI36]
Chr7:7p22.1
uncertain significance
GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3 copy number gain See cases [RCV000053527] Chr7:45130..6270185 [GRCh38]
Chr7:45130..6309816 [GRCh37]
Chr7:140213..6276341 [NCBI36]
Chr7:7p22.3-22.1
pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3 copy number gain See cases [RCV000053528] Chr7:53985..24361531 [GRCh38]
Chr7:53985..24401150 [GRCh37]
Chr7:149068..24367675 [NCBI36]
Chr7:7p22.3-15.3
pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:54185-8274834)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|See cases [RCV000053529] Chr7:54185..8274834 [GRCh38]
Chr7:54185..8314464 [GRCh37]
Chr7:149268..8280989 [NCBI36]
Chr7:7p22.3-21.3
pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2
pathogenic
NM_001101.5(ACTB):c.349G>A (p.Glu117Lys) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000056289] Chr7:5529175 [GRCh38]
Chr7:5568806 [GRCh37]
Chr7:7p22.1
pathogenic
NM_001101.5(ACTB):c.625G>A (p.Val209Met) single nucleotide variant ACTB-related BAFopathy [RCV001533048]|Baraitser-Winter syndrome 1 [RCV000116222]|not provided [RCV000680682] Chr7:5528458 [GRCh38]
Chr7:5568089 [GRCh37]
Chr7:7p22.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001101.5(ACTB):c.64G>A (p.Ala22Thr) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000116223] Chr7:5529594 [GRCh38]
Chr7:5569225 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.1023C>T (p.Ile341=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000527082]|not specified [RCV000116224] Chr7:5527853 [GRCh38]
Chr7:5567484 [GRCh37]
Chr7:7p22.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001101.5(ACTB):c.942G>A (p.Gln314=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000541380]|not specified [RCV000116225] Chr7:5528046 [GRCh38]
Chr7:5567677 [GRCh37]
Chr7:7p22.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001101.5(ACTB):c.-32C>A single nucleotide variant not specified [RCV000603359] Chr7:5530549 [GRCh38]
Chr7:5570180 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.645G>A (p.Lys215=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001447369]|not specified [RCV000602964] Chr7:5528438 [GRCh38]
Chr7:5568069 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.965C>G (p.Pro322Arg) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001253168] Chr7:5528023 [GRCh38]
Chr7:5567654 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.217C>G (p.His73Asp) single nucleotide variant not provided [RCV000171405] Chr7:5529307 [GRCh38]
Chr7:5568938 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.-6-4G>T single nucleotide variant not provided [RCV000680325]|not specified [RCV000175657] Chr7:5529667 [GRCh38]
Chr7:5569298 [GRCh37]
Chr7:7p22.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001101.5(ACTB):c.1004G>C (p.Arg335Pro) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001349224] Chr7:5527872 [GRCh38]
Chr7:5567503 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_001101.5(ACTB):c.537C>G (p.Asp179Glu) single nucleotide variant Inborn genetic diseases [RCV000190802] Chr7:5528546 [GRCh38]
Chr7:5568177 [GRCh37]
Chr7:7p22.1
pathogenic
NM_001101.5(ACTB):c.257G>A (p.Trp86Ter) single nucleotide variant Developmental malformations-deafness-dystonia syndrome [RCV001293990] Chr7:5529267 [GRCh38]
Chr7:5568898 [GRCh37]
Chr7:7p22.1
uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:2789546-9066894)x3 copy number gain See cases [RCV000515563] Chr7:2789546..9066894 [GRCh37]
Chr7:7p22.3-21.3
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p22.1(chr7:5448387-6276950)x1 copy number loss See cases [RCV000135830] Chr7:5448387..6276950 [GRCh38]
Chr7:5488018..6316581 [GRCh37]
Chr7:5454544..6283106 [NCBI36]
Chr7:7p22.1
likely pathogenic|benign
GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3 copy number gain See cases [RCV000136557] Chr7:54185..26827634 [GRCh38]
Chr7:54185..26867253 [GRCh37]
Chr7:149268..26833778 [NCBI36]
Chr7:7p22.3-15.2
pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3 copy number gain See cases [RCV000136731] Chr7:54185..6638027 [GRCh38]
Chr7:54185..6677658 [GRCh37]
Chr7:149268..6644183 [NCBI36]
Chr7:7p22.3-22.1
pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3 copy number gain See cases [RCV000137524] Chr7:45130..7252065 [GRCh38]
Chr7:45130..7291696 [GRCh37]
Chr7:140213..7258221 [NCBI36]
Chr7:7p22.3-21.3
pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3 copy number gain See cases [RCV000137824] Chr7:45130..25221165 [GRCh38]
Chr7:45130..25260784 [GRCh37]
Chr7:140213..25227309 [NCBI36]
Chr7:7p22.3-15.3
pathogenic
GRCh38/hg38 7p22.1(chr7:4849987-5760088)x3 copy number gain See cases [RCV000137977] Chr7:4849987..5760088 [GRCh38]
Chr7:4889618..5799719 [GRCh37]
Chr7:4856144..5766245 [NCBI36]
Chr7:7p22.1
likely pathogenic
GRCh38/hg38 7p22.1(chr7:5331115-6340621)x3 copy number gain See cases [RCV000138729] Chr7:5331115..6340621 [GRCh38]
Chr7:5370746..6380252 [GRCh37]
Chr7:5337272..6346777 [NCBI36]
Chr7:7p22.1
uncertain significance
GRCh38/hg38 7p22.1(chr7:5331115-6751518)x3 copy number gain See cases [RCV000139037] Chr7:5331115..6751518 [GRCh38]
Chr7:5370746..6791149 [GRCh37]
Chr7:5337272..6757674 [NCBI36]
Chr7:7p22.1
likely pathogenic
GRCh38/hg38 7p22.1(chr7:5378314-5849934)x4 copy number gain See cases [RCV000139038] Chr7:5378314..5849934 [GRCh38]
Chr7:5417945..5889565 [GRCh37]
Chr7:5384471..5856091 [NCBI36]
Chr7:7p22.1
likely pathogenic
GRCh38/hg38 7p22.1(chr7:5171797-5635439)x3 copy number gain See cases [RCV000140259] Chr7:5171797..5635439 [GRCh38]
Chr7:5211428..5675070 [GRCh37]
Chr7:5177954..5641596 [NCBI36]
Chr7:7p22.1
uncertain significance
NP_001092.1(ACTB):p.Val209Leu protein only Acute lymphoid leukemia [RCV000202365] Chr7:7p22.1 pathogenic
NM_001101.5(ACTB):c.1090G>A (p.Glu364Lys) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000202367] Chr7:5527786 [GRCh38]
Chr7:5567417 [GRCh37]
Chr7:7p22.1
pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3 copy number gain See cases [RCV000143060] Chr7:1698124..27207295 [GRCh38]
Chr7:1737760..27246914 [GRCh37]
Chr7:1704286..27213439 [NCBI36]
Chr7:7p22.3-15.2
pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 copy number gain See cases [RCV000143586] Chr7:43360..27196404 [GRCh38]
Chr7:43360..27236023 [GRCh37]
Chr7:138443..27202548 [NCBI36]
Chr7:7p22.3-15.2
pathogenic
NM_001101.5(ACTB):c.123+1G>A single nucleotide variant Baraitser-Winter syndrome 1 [RCV000185550] Chr7:5529534 [GRCh38]
Chr7:5569165 [GRCh37]
Chr7:7p22.1
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_001101.5(ACTB):c.527T>C (p.Leu176Pro) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000515707] Chr7:5528556 [GRCh38]
Chr7:5568187 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.351G>T (p.Glu117Asp) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000496164] Chr7:5529173 [GRCh38]
Chr7:5568804 [GRCh37]
Chr7:7p22.1
pathogenic
NM_001101.5(ACTB):c.617G>A (p.Arg206Gln) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000987816]|Inborn genetic diseases [RCV000623638]|See cases [RCV001420337]|not provided [RCV000255779] Chr7:5528466 [GRCh38]
Chr7:5568097 [GRCh37]
Chr7:7p22.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001101.5(ACTB):c.597C>G (p.Ser199Arg) single nucleotide variant not provided [RCV000302509] Chr7:5528486 [GRCh38]
Chr7:5568117 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.1021A>C (p.Ile341Leu) single nucleotide variant not provided [RCV000279735] Chr7:5527855 [GRCh38]
Chr7:5567486 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_001101.5(ACTB):c.168C>T (p.Asp56=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001086381]|not provided [RCV000642201]|not specified [RCV000282092] Chr7:5529356 [GRCh38]
Chr7:5568987 [GRCh37]
Chr7:7p22.1
benign
NM_001101.5(ACTB):c.127G>A (p.Val43Met) single nucleotide variant not provided [RCV000341122] Chr7:5529397 [GRCh38]
Chr7:5569028 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.82C>G (p.Arg28Gly) single nucleotide variant ACTB-related BAFopathy [RCV001533044]|Baraitser-Winter syndrome 1 [RCV000850524]|not provided [RCV000354047] Chr7:5529576 [GRCh38]
Chr7:5569207 [GRCh37]
Chr7:7p22.1
likely pathogenic|uncertain significance
NM_001101.5(ACTB):c.1020G>T (p.Trp340Cys) single nucleotide variant not provided [RCV000351397] Chr7:5527856 [GRCh38]
Chr7:5567487 [GRCh37]
Chr7:7p22.1
pathogenic|likely pathogenic
NM_001101.5(ACTB):c.143G>A (p.Gly48Asp) single nucleotide variant not specified [RCV000396151] Chr7:5529381 [GRCh38]
Chr7:5569012 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_001101.5(ACTB):c.155C>T (p.Ser52Phe) single nucleotide variant not provided [RCV000261544] Chr7:5529369 [GRCh38]
Chr7:5569000 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_001101.5(ACTB):c.559_562del (p.Asp187fs) microsatellite not provided [RCV000405025] Chr7:5528521..5528524 [GRCh38]
Chr7:5568152..5568155 [GRCh37]
Chr7:7p22.1
pathogenic|uncertain significance
NM_001101.5(ACTB):c.420A>G (p.Leu140=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001080828]|not provided [RCV000680681]|not specified [RCV000336952] Chr7:5528663 [GRCh38]
Chr7:5568294 [GRCh37]
Chr7:7p22.1
benign
NM_001101.5(ACTB):c.1043C>T (p.Ser348Leu) single nucleotide variant Intellectual disability [RCV001261369]|not provided [RCV000370520] Chr7:5527833 [GRCh38]
Chr7:5567464 [GRCh37]
Chr7:7p22.1
pathogenic|likely pathogenic|uncertain significance
NM_001101.5(ACTB):c.561C>G (p.Asp187Glu) single nucleotide variant not provided [RCV000490076] Chr7:5528522 [GRCh38]
Chr7:5568153 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_001101.5(ACTB):c.96C>T (p.Pro32=) single nucleotide variant not specified [RCV000592198] Chr7:5529562 [GRCh38]
Chr7:5569193 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.259C>G (p.His87Asp) single nucleotide variant Inborn genetic diseases [RCV000622733] Chr7:5529265 [GRCh38]
Chr7:5568896 [GRCh37]
Chr7:7p22.1
pathogenic
NM_001101.5(ACTB):c.930C>T (p.Ala310=) single nucleotide variant not provided [RCV000591989] Chr7:5528058 [GRCh38]
Chr7:5567689 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_006514.3(SCN10A):c.4416C>T (p.Ile1472=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000642198]|not provided [RCV001704765] Chr7:5527769 [GRCh38]
Chr7:5567400 [GRCh37]
Chr7:7p22.1
benign|likely benign
NM_001101.5(ACTB):c.329del (p.Leu110fs) deletion Baraitser-Winter syndrome 1 [RCV000585889] Chr7:5529195 [GRCh38]
Chr7:5568826 [GRCh37]
Chr7:7p22.1
pathogenic
NM_001101.5(ACTB):c.143del (p.Gly48fs) deletion not provided [RCV000627603] Chr7:5529381 [GRCh38]
Chr7:5569012 [GRCh37]
Chr7:7p22.1
pathogenic
NM_001101.5(ACTB):c.826G>A (p.Glu276Lys) single nucleotide variant not provided [RCV000521247] Chr7:5528162 [GRCh38]
Chr7:5567793 [GRCh37]
Chr7:7p22.1
pathogenic|likely pathogenic
NM_001101.5(ACTB):c.903C>T (p.Gly301=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000529360] Chr7:5528085 [GRCh38]
Chr7:5567716 [GRCh37]
Chr7:7p22.1
benign
NM_001101.5(ACTB):c.773C>T (p.Pro258Leu) single nucleotide variant Inborn genetic diseases [RCV001266590]|not provided [RCV000656286] Chr7:5528310 [GRCh38]
Chr7:5567941 [GRCh37]
Chr7:7p22.1
pathogenic|likely pathogenic
NM_001101.5(ACTB):c.1020G>C (p.Trp340Cys) single nucleotide variant not provided [RCV000414679] Chr7:5527856 [GRCh38]
Chr7:5567487 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.868C>T (p.Arg290Cys) single nucleotide variant not provided [RCV000414712] Chr7:5528120 [GRCh38]
Chr7:5567751 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.1081G>A (p.Glu361Lys) single nucleotide variant not provided [RCV000722630] Chr7:5527795 [GRCh38]
Chr7:5567426 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_001101.5(ACTB):c.1092_1105dup (p.Ile369fs) duplication not provided [RCV000413032] Chr7:5527770..5527771 [GRCh38]
Chr7:5567401..5567402 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.616C>G (p.Arg206Gly) single nucleotide variant not provided [RCV000414060] Chr7:5528467 [GRCh38]
Chr7:5568098 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.479C>T (p.Thr160Ile) single nucleotide variant not provided [RCV000414211] Chr7:5528604 [GRCh38]
Chr7:5568235 [GRCh37]
Chr7:7p22.1
likely pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3 copy number gain See cases [RCV000449446] Chr7:183556..12746636 [GRCh37]
Chr7:7p22.3-21.3
pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43360-17656861)x3 copy number gain See cases [RCV000449347] Chr7:43360..17656861 [GRCh37]
Chr7:7p22.3-21.1
pathogenic
NM_001101.5(ACTB):c.1044G>A (p.Ser348=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001088660]|not provided [RCV000642203] Chr7:5527832 [GRCh38]
Chr7:5567463 [GRCh37]
Chr7:7p22.1
benign|likely benign
NM_001101.5(ACTB):c.36C>T (p.Asn12=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001089014]|not provided [RCV000427582] Chr7:5529622 [GRCh38]
Chr7:5569253 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.426G>T (p.Leu142=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001080382]|not provided [RCV000445157]|not specified [RCV001573551] Chr7:5528657 [GRCh38]
Chr7:5568288 [GRCh37]
Chr7:7p22.1
benign|likely benign
NM_001101.5(ACTB):c.762G>C (p.Arg254=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001087879]|not provided [RCV000417808] Chr7:5528321 [GRCh38]
Chr7:5567952 [GRCh37]
Chr7:7p22.1
benign
NM_001101.5(ACTB):c.1028G>A (p.Gly343Asp) single nucleotide variant not provided [RCV000431397] Chr7:5527848 [GRCh38]
Chr7:5567479 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_001101.5(ACTB):c.306C>A (p.Pro102=) single nucleotide variant not provided [RCV000441729] Chr7:5529218 [GRCh38]
Chr7:5568849 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.526C>T (p.Leu176=) single nucleotide variant not provided [RCV000424382] Chr7:5528557 [GRCh38]
Chr7:5568188 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.-50G>C single nucleotide variant not provided [RCV000421101] Chr7:5530567 [GRCh38]
Chr7:5570198 [GRCh37]
Chr7:7p22.1
benign|likely benign
NM_001101.5(ACTB):c.1013C>T (p.Ser338Phe) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000505179] Chr7:5527863 [GRCh38]
Chr7:5567494 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.350A>T (p.Glu117Val) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000505216] Chr7:5529174 [GRCh38]
Chr7:5568805 [GRCh37]
Chr7:7p22.1
pathogenic
NM_001101.5(ACTB):c.-50G>T single nucleotide variant not provided [RCV000418862] Chr7:5530567 [GRCh38]
Chr7:5570198 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.474G>A (p.Gly158=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001088667]|not provided [RCV000418973] Chr7:5528609 [GRCh38]
Chr7:5568240 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.-7+15C>G single nucleotide variant not provided [RCV000435994] Chr7:5530509 [GRCh38]
Chr7:5570140 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.364-16T>C single nucleotide variant Baraitser-Winter syndrome 1 [RCV001516811]|Developmental malformations-deafness-dystonia syndrome [RCV001549056]|not specified [RCV000419496] Chr7:5528735 [GRCh38]
Chr7:5568366 [GRCh37]
Chr7:7p22.1
benign
NM_001101.5(ACTB):c.280C>T (p.Leu94=) single nucleotide variant not provided [RCV000425672] Chr7:5529244 [GRCh38]
Chr7:5568875 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.-6-15C>G single nucleotide variant not provided [RCV000429426] Chr7:5529678 [GRCh38]
Chr7:5569309 [GRCh37]
Chr7:7p22.1
likely benign
NM_000169.3(GLA):c.48T>G (p.Leu16=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000547746]|not provided [RCV001703620] Chr7:5529404 [GRCh38]
Chr7:5569035 [GRCh37]
Chr7:7p22.1
benign|likely benign
NM_001101.5(ACTB):c.324C>T (p.Ala108=) single nucleotide variant not provided [RCV000443680] Chr7:5529200 [GRCh38]
Chr7:5568831 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.363+16C>T single nucleotide variant Baraitser-Winter syndrome 1 [RCV001513372]|not provided [RCV000515072] Chr7:5529145 [GRCh38]
Chr7:5568776 [GRCh37]
Chr7:7p22.1
benign|likely benign
NM_001101.5(ACTB):c.93C>T (p.Phe31=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001457692]|not provided [RCV000429818] Chr7:5529565 [GRCh38]
Chr7:5569196 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.-23T>C single nucleotide variant not provided [RCV000440308] Chr7:5530540 [GRCh38]
Chr7:5570171 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.783C>G (p.Leu261=) single nucleotide variant not provided [RCV000437083] Chr7:5528300 [GRCh38]
Chr7:5567931 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.985-6C>T single nucleotide variant Baraitser-Winter syndrome 1 [RCV001080302]|not provided [RCV000680338]|not specified [RCV000420276] Chr7:5527897 [GRCh38]
Chr7:5567528 [GRCh37]
Chr7:7p22.1
benign
GRCh37/hg19 7p22.1(chr7:4756391-5934779)x3 copy number gain See cases [RCV000448466] Chr7:4756391..5934779 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_001101.5(ACTB):c.629G>A (p.Arg210His) single nucleotide variant ACTB-related BAFopathy [RCV001533049]|not provided [RCV000482867] Chr7:5528454 [GRCh38]
Chr7:5568085 [GRCh37]
Chr7:7p22.1
pathogenic|likely pathogenic
NM_001101.5(ACTB):c.307G>A (p.Val103Met) single nucleotide variant not provided [RCV000486266] Chr7:5529217 [GRCh38]
Chr7:5568848 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_001101.5(ACTB):c.535G>C (p.Asp179His) single nucleotide variant not provided [RCV000478324] Chr7:5528548 [GRCh38]
Chr7:5568179 [GRCh37]
Chr7:7p22.1
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.1(chr7:5268201-5803877)x3 copy number gain See cases [RCV000510522] Chr7:5268201..5803877 [GRCh37]
Chr7:7p22.1
uncertain significance
GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3 copy number gain See cases [RCV000510652] Chr7:43360..23674928 [GRCh37]
Chr7:7p22.3-15.3
pathogenic
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 copy number gain See cases [RCV000510275] Chr7:704573..29257946 [GRCh37]
Chr7:7p22.3-14.3
pathogenic
NM_001101.5(ACTB):c.890_891del (p.Thr297fs) microsatellite not provided [RCV000498600] Chr7:5528097..5528098 [GRCh38]
Chr7:5567728..5567729 [GRCh37]
Chr7:7p22.1
likely pathogenic|uncertain significance
NM_001101.5(ACTB):c.802G>C (p.Gly268Arg) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000508667] Chr7:5528281 [GRCh38]
Chr7:5567912 [GRCh37]
Chr7:7p22.1
pathogenic
GRCh37/hg19 7p22.1(chr7:4839046-7110343)x3 copy number gain See cases [RCV000511909] Chr7:4839046..7110343 [GRCh37]
Chr7:7p22.1
likely pathogenic
GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3 copy number gain See cases [RCV000511772] Chr7:43360..14664158 [GRCh37]
Chr7:7p22.3-21.2
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_001101.5(ACTB):c.215A>G (p.Glu72Gly) single nucleotide variant not provided [RCV000493017] Chr7:5529309 [GRCh38]
Chr7:5568940 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.686C>T (p.Thr229Met) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000685363] Chr7:5528397 [GRCh38]
Chr7:5568028 [GRCh37]
Chr7:7p22.1
uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3 copy number gain See cases [RCV000510950] Chr7:43360..12098696 [GRCh37]
Chr7:7p22.3-21.3
pathogenic
NM_001101.5(ACTB):c.888C>G (p.Asn296Lys) single nucleotide variant Inborn genetic diseases [RCV000624263] Chr7:5528100 [GRCh38]
Chr7:5567731 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.269_271del (p.Phe90del) deletion Baraitser-Winter syndrome 1 [RCV000578326] Chr7:5529253..5529255 [GRCh38]
Chr7:5568884..5568886 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.198C>T (p.Thr66=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000642200] Chr7:5529326 [GRCh38]
Chr7:5568957 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.44G>C (p.Gly15Ala) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000642197] Chr7:5529614 [GRCh38]
Chr7:5569245 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_001101.5(ACTB):c.113C>T (p.Pro38Leu) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000539689] Chr7:5529545 [GRCh38]
Chr7:5569176 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.1117A>T (p.Lys373Ter) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000585888] Chr7:5527759 [GRCh38]
Chr7:5567390 [GRCh37]
Chr7:7p22.1
pathogenic
NM_001101.5(ACTB):c.669C>T (p.Phe223=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000540586] Chr7:5528414 [GRCh38]
Chr7:5568045 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.1011C>T (p.Tyr337=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000642205]|not provided [RCV001557569] Chr7:5527865 [GRCh38]
Chr7:5567496 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.406A>G (p.Ile136Val) single nucleotide variant Inborn genetic diseases [RCV000624734] Chr7:5528677 [GRCh38]
Chr7:5568308 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_001101.5(ACTB):c.589G>A (p.Gly197Ser) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001305813]|Inborn genetic diseases [RCV000624537]|not provided [RCV001268477] Chr7:5528494 [GRCh38]
Chr7:5568125 [GRCh37]
Chr7:7p22.1
likely pathogenic|uncertain significance
NM_001101.5(ACTB):c.63C>T (p.Phe21=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001416542]|not specified [RCV000615587] Chr7:5529595 [GRCh38]
Chr7:5569226 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.99C>T (p.Ser33=) single nucleotide variant not specified [RCV000608674] Chr7:5529559 [GRCh38]
Chr7:5569190 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.264C>T (p.His88=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000642206] Chr7:5529260 [GRCh38]
Chr7:5568891 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.951C>T (p.Ile317=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000862866]|not specified [RCV000614264] Chr7:5528037 [GRCh38]
Chr7:5567668 [GRCh37]
Chr7:7p22.1
benign
NM_006514.3(SCN10A):c.4416C>T (p.Ile1472=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000863563]|not provided [RCV001704764] Chr7:5527787 [GRCh38]
Chr7:5567418 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.-25_-9dup duplication not specified [RCV000612018] Chr7:5530525..5530526 [GRCh38]
Chr7:5570156..5570157 [GRCh37]
Chr7:7p22.1
likely benign
GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3 copy number gain See cases [RCV000512505] Chr7:43360..11567351 [GRCh37]
Chr7:7p22.3-21.3
pathogenic
NM_001101.5(ACTB):c.1097dup (p.Ser368fs) duplication Baraitser-Winter syndrome 1 [RCV000585890]|Inborn genetic diseases [RCV000624638] Chr7:5527778..5527779 [GRCh38]
Chr7:5567409..5567410 [GRCh37]
Chr7:7p22.1
pathogenic|likely pathogenic|uncertain significance
NM_001101.5(ACTB):c.217C>T (p.His73Tyr) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000623591] Chr7:5529307 [GRCh38]
Chr7:5568938 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.774T>C (p.Pro258=) single nucleotide variant not specified [RCV000607019] Chr7:5528309 [GRCh38]
Chr7:5567940 [GRCh37]
Chr7:7p22.1
likely benign
GRCh37/hg19 7p22.1(chr7:5340345-5641546)x1 copy number loss not provided [RCV000682818] Chr7:5340345..5641546 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_001101.5(ACTB):c.19G>A (p.Ala7Thr) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000700089]|Intellectual disability [RCV001255360] Chr7:5529639 [GRCh38]
Chr7:5569270 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.1078dup (p.Gln360fs) duplication Baraitser-Winter syndrome [RCV000800009]|not provided [RCV000681089] Chr7:5527797..5527798 [GRCh38]
Chr7:5567428..5567429 [GRCh37]
Chr7:7p22.1
pathogenic|uncertain significance
NM_001101.5(ACTB):c.495C>G (p.Ile165Met) single nucleotide variant not provided [RCV000681129] Chr7:5528588 [GRCh38]
Chr7:5568219 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.363+15A>C single nucleotide variant not provided [RCV000681192] Chr7:5529146 [GRCh38]
Chr7:5568777 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.124G>A (p.Gly42Ser) single nucleotide variant not provided [RCV000681215] Chr7:5529400 [GRCh38]
Chr7:5569031 [GRCh37]
Chr7:7p22.1
likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 7p22.2-21.3(chr7:4388620-7302293)x3 copy number gain not provided [RCV000682900] Chr7:4388620..7302293 [GRCh37]
Chr7:7p22.2-21.3
pathogenic
NM_001101.5(ACTB):c.-6-33C>T single nucleotide variant Baraitser-Winter syndrome 1 [RCV001549220]|Developmental malformations-deafness-dystonia syndrome [RCV001549057]|not provided [RCV000680680] Chr7:5529696 [GRCh38]
Chr7:5569327 [GRCh37]
Chr7:7p22.1
benign
NM_001101.5(ACTB):c.984+39G>A single nucleotide variant Baraitser-Winter syndrome 1 [RCV001549055]|Developmental malformations-deafness-dystonia syndrome [RCV001549054]|not provided [RCV000680683] Chr7:5527965 [GRCh38]
Chr7:5567596 [GRCh37]
Chr7:7p22.1
benign
NM_001101.5(ACTB):c.124-3C>T single nucleotide variant Baraitser-Winter syndrome 1 [RCV000701659] Chr7:5529403 [GRCh38]
Chr7:5569034 [GRCh37]
Chr7:7p22.1
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.1(chr7:5569364-5570221)x1 copy number loss not provided [RCV000746403] Chr7:5569364..5570221 [GRCh37]
Chr7:7p22.1
benign
GRCh37/hg19 7p22.3-21.3(chr7:10239-13116278)x3 copy number gain not provided [RCV000746277] Chr7:10239..13116278 [GRCh37]
Chr7:7p22.3-21.3
pathogenic
null indel not provided [RCV001665117] Chr7:5529168..5529171 [GRCh38]
Chr7:5568799..5568802 [GRCh37]
Chr7:7p22.1
pathogenic
null single nucleotide variant not provided [RCV001667048] Chr7:5527481 [GRCh38]
Chr7:5567112 [GRCh37]
Chr7:7p22.1
benign
NM_001101.5(ACTB):c.429C>T (p.Tyr143=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001470057]|not provided [RCV000863074] Chr7:5528654 [GRCh38]
Chr7:5568285 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.484A>G (p.Thr162Ala) single nucleotide variant not provided [RCV001567600] Chr7:5528599 [GRCh38]
Chr7:5568230 [GRCh37]
Chr7:7p22.1
pathogenic
NM_001101.5(ACTB):c.219C>G (p.His73Gln) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000760255] Chr7:5529305 [GRCh38]
Chr7:5568936 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.616C>T (p.Arg206Trp) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001067323]|not provided [RCV001559934] Chr7:5528467 [GRCh38]
Chr7:5568098 [GRCh37]
Chr7:7p22.1
pathogenic
NM_001101.5(ACTB):c.834C>A (p.Thr278=) single nucleotide variant not provided [RCV000951405] Chr7:5528154 [GRCh38]
Chr7:5567785 [GRCh37]
Chr7:7p22.1
likely benign
NM_032043.3(BRIP1):c.1795-12_1795-10del single nucleotide variant Baraitser-Winter syndrome 1 [RCV000866420]|not provided [RCV001712811] Chr7:5528630 [GRCh38]
Chr7:5568261 [GRCh37]
Chr7:7p22.1
benign
NM_001101.5(ACTB):c.364-4A>G single nucleotide variant not provided [RCV000866803] Chr7:5528723 [GRCh38]
Chr7:5568354 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.225C>T (p.Ile75=) single nucleotide variant not provided [RCV000866948] Chr7:5529299 [GRCh38]
Chr7:5568930 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.582C>T (p.Thr194=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000867851] Chr7:5528501 [GRCh38]
Chr7:5568132 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.24C>G (p.Leu8=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000865059] Chr7:5529634 [GRCh38]
Chr7:5569265 [GRCh37]
Chr7:7p22.1
likely benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000867594]|not provided [RCV001683675] Chr7:5528166 [GRCh38]
Chr7:5567797 [GRCh37]
Chr7:7p22.1
benign
NM_001101.5(ACTB):c.803-7C>T single nucleotide variant Baraitser-Winter syndrome 1 [RCV001477627]|not provided [RCV000867137] Chr7:5528192 [GRCh38]
Chr7:5567823 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.30C>G (p.Val10=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001443512]|not provided [RCV000949125] Chr7:5529628 [GRCh38]
Chr7:5569259 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.124-5C>T single nucleotide variant Baraitser-Winter syndrome 1 [RCV000868091] Chr7:5529405 [GRCh38]
Chr7:5569036 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.267C>T (p.Thr89=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000868934] Chr7:5529257 [GRCh38]
Chr7:5568888 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.366C>A (p.Ile122=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001459619]|not provided [RCV000944718] Chr7:5528717 [GRCh38]
Chr7:5568348 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.124-7T>A single nucleotide variant Baraitser-Winter syndrome 1 [RCV001511005]|not provided [RCV000866317] Chr7:5529407 [GRCh38]
Chr7:5569038 [GRCh37]
Chr7:7p22.1
benign
NM_001101.5(ACTB):c.628C>T (p.Arg210Cys) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000995478] Chr7:5528455 [GRCh38]
Chr7:5568086 [GRCh37]
Chr7:7p22.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_001101.5(ACTB):c.179G>A (p.Ser60Asn) single nucleotide variant Short stature [RCV000790625] Chr7:5529345 [GRCh38]
Chr7:5568976 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.899_916del (p.Ser300_Met305del) deletion not provided [RCV000782068] Chr7:5528072..5528089 [GRCh38]
Chr7:5567703..5567720 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.732C>T (p.Asp244=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000861357]|not provided [RCV001564329] Chr7:5528351 [GRCh38]
Chr7:5567982 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.364-8C>T single nucleotide variant Baraitser-Winter syndrome 1 [RCV001396567]|not provided [RCV000867151] Chr7:5528727 [GRCh38]
Chr7:5568358 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.1017G>C (p.Val339=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000864218] Chr7:5527859 [GRCh38]
Chr7:5567490 [GRCh37]
Chr7:7p22.1
benign
NM_001101.5(ACTB):c.111C>T (p.Arg37=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001425695]|not provided [RCV000940219] Chr7:5529547 [GRCh38]
Chr7:5569178 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.609G>C (p.Thr203=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000863290]|not provided [RCV001534957] Chr7:5528474 [GRCh38]
Chr7:5568105 [GRCh37]
Chr7:7p22.1
benign
NM_001101.5(ACTB):c.124-9C>T single nucleotide variant Baraitser-Winter syndrome 1 [RCV000869883] Chr7:5529409 [GRCh38]
Chr7:5569040 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.219C>T (p.His73=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001492307]|not provided [RCV000919644] Chr7:5529305 [GRCh38]
Chr7:5568936 [GRCh37]
Chr7:7p22.1
likely benign
NM_001278064.2(GRM1):c.2922T>C (p.Pro974=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000862149]|not provided [RCV001644845] Chr7:5528396 [GRCh38]
Chr7:5568027 [GRCh37]
Chr7:7p22.1
benign
NM_001101.5(ACTB):c.228C>T (p.Val76=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000866758] Chr7:5529296 [GRCh38]
Chr7:5568927 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.720C>T (p.Tyr240=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001505304]|not provided [RCV000863482] Chr7:5528363 [GRCh38]
Chr7:5567994 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.364-7C>T single nucleotide variant Baraitser-Winter syndrome 1 [RCV001495190]|not provided [RCV000861117] Chr7:5528726 [GRCh38]
Chr7:5568357 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.210C>T (p.Pro70=) single nucleotide variant not provided [RCV000863731] Chr7:5529314 [GRCh38]
Chr7:5568945 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.858C>T (p.Asp286=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000869599]|not provided [RCV001546064] Chr7:5528130 [GRCh38]
Chr7:5567761 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.943_945del (p.Lys315del) deletion Baraitser-Winter syndrome [RCV000797929] Chr7:5528043..5528045 [GRCh38]
Chr7:5567674..5567676 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_001101.5(ACTB):c.78C>T (p.Ala26=) single nucleotide variant not provided [RCV000998762] Chr7:5529580 [GRCh38]
Chr7:5569211 [GRCh37]
Chr7:7p22.1
uncertain significance
GRCh37/hg19 7p22.1(chr7:5218459-6319917)x3 copy number gain not provided [RCV000845805] Chr7:5218459..6319917 [GRCh37]
Chr7:7p22.1
pathogenic
NM_001101.5(ACTB):c.180C>T (p.Ser60=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV000799928] Chr7:5529344 [GRCh38]
Chr7:5568975 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_001101.5(ACTB):c.609G>A (p.Thr203=) single nucleotide variant Baraitser-Winter syndrome [RCV000795087] Chr7:5528474 [GRCh38]
Chr7:5568105 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_001101.5(ACTB):c.27C>A (p.Val9=) single nucleotide variant Baraitser-Winter syndrome [RCV000814068] Chr7:5529631 [GRCh38]
Chr7:5569262 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_001101.5(ACTB):c.575T>A (p.Ile192Asn) single nucleotide variant not provided [RCV000788880] Chr7:5528508 [GRCh38]
Chr7:5568139 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_001101.5(ACTB):c.583G>A (p.Glu195Lys) single nucleotide variant not provided [RCV001091308] Chr7:5528500 [GRCh38]
Chr7:5568131 [GRCh37]
Chr7:7p22.1
likely pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3 copy number gain not provided [RCV000848100] Chr7:43376..19520619 [GRCh37]
Chr7:7p22.3-21.1
pathogenic
NM_001101.5(ACTB):c.173C>T (p.Ala58Val) single nucleotide variant Intellectual disability [RCV001249484] Chr7:5529351 [GRCh38]
Chr7:5568982 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.733G>A (p.Gly245Ser) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001222601] Chr7:5528350 [GRCh38]
Chr7:5567981 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_001101.5(ACTB):c.616dup (p.Arg206fs) duplication Baraitser-Winter syndrome 1 [RCV001214625] Chr7:5528466..5528467 [GRCh38]
Chr7:5568097..5568098 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_001101.5(ACTB):c.490C>T (p.Pro164Ser) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001230098] Chr7:5528593 [GRCh38]
Chr7:5568224 [GRCh37]
Chr7:7p22.1
uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3 copy number gain not provided [RCV001005891] Chr7:1648373..10627513 [GRCh37]
Chr7:7p22.3-21.3
pathogenic
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001581069] Chr7:5528184 [GRCh38]
Chr7:5567815 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_001101.5(ACTB):c.364-44C>T single nucleotide variant not provided [RCV001544660] Chr7:5528763 [GRCh38]
Chr7:5568394 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.-6-182G>A single nucleotide variant not provided [RCV001560991] Chr7:5529845 [GRCh38]
Chr7:5569476 [GRCh37]
Chr7:7p22.1
likely benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) duplication not provided [RCV001654022] Chr7:5527623..5527624 [GRCh38]
Chr7:5567254..5567255 [GRCh37]
Chr7:7p22.1
benign
null single nucleotide variant not provided [RCV001696027] Chr7:5529082 [GRCh38]
Chr7:5568713 [GRCh37]
Chr7:7p22.1
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001656816] Chr7:5527623 [GRCh38]
Chr7:5567254 [GRCh37]
Chr7:7p22.1
benign
NM_001101.5(ACTB):c.118C>T (p.His40Tyr) single nucleotide variant ACTB-related BAFopathy [RCV001533045] Chr7:5529540 [GRCh38]
Chr7:5569171 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.1066T>C (p.Trp356Arg) single nucleotide variant ACTB-related BAFopathy [RCV001533050] Chr7:5527810 [GRCh38]
Chr7:5567441 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_001101.5(ACTB):c.1095C>T (p.Ser365=) single nucleotide variant not provided [RCV000878562] Chr7:5527781 [GRCh38]
Chr7:5567412 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.651C>T (p.Cys217=) single nucleotide variant not provided [RCV000906341] Chr7:5528432 [GRCh38]
Chr7:5568063 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.325C>T (p.Pro109Ser) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001175150] Chr7:5529199 [GRCh38]
Chr7:5568830 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.166G>A (p.Asp56Asn) single nucleotide variant not provided [RCV001200525] Chr7:5529358 [GRCh38]
Chr7:5568989 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.7_8delinsTT (p.Asp3Phe) indel Baraitser-Winter syndrome 1 [RCV001243702] Chr7:5529650..5529651 [GRCh38]
Chr7:5569281..5569282 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.-2C>G single nucleotide variant not provided [RCV001570623] Chr7:5529659 [GRCh38]
Chr7:5569290 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.158A>G (p.Tyr53Cys) single nucleotide variant not provided [RCV001560300] Chr7:5529366 [GRCh38]
Chr7:5568997 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.586C>G (p.Arg196Gly) single nucleotide variant not provided [RCV001555324] Chr7:5528497 [GRCh38]
Chr7:5568128 [GRCh37]
Chr7:7p22.1
pathogenic
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001689362] Chr7:5529131 [GRCh38]
Chr7:5568762 [GRCh37]
Chr7:7p22.1
benign
NM_001101.5(ACTB):c.209C>A (p.Pro70His) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001027982] Chr7:5529315 [GRCh38]
Chr7:5568946 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_004837.4(GGPS1):c.782G>A (p.Arg261His) AND MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, single nucleotide variant not provided [RCV001638873] Chr7:5528211 [GRCh38]
Chr7:5567842 [GRCh37]
Chr7:7p22.1
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001597996] Chr7:5527929 [GRCh38]
Chr7:5567560 [GRCh37]
Chr7:7p22.1
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001593882] Chr7:5527468 [GRCh38]
Chr7:5567099 [GRCh37]
Chr7:7p22.1
likely benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001660908] Chr7:5528223 [GRCh38]
Chr7:5567854 [GRCh37]
Chr7:7p22.1
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001590024] Chr7:5529034 [GRCh38]
Chr7:5568665 [GRCh37]
Chr7:7p22.1
likely benign
null single nucleotide variant not provided [RCV001637513] Chr7:5529118 [GRCh38]
Chr7:5568749 [GRCh37]
Chr7:7p22.1
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001598182] Chr7:5529099 [GRCh38]
Chr7:5568730 [GRCh37]
Chr7:7p22.1
benign
null deletion not provided [RCV001673962] Chr7:5530470..5530491 [GRCh38]
Chr7:5570101..5570122 [GRCh37]
Chr7:7p22.1
benign
NM_001943.5(DSG2):c.1299T>C (p.Asp433=) single nucleotide variant not provided [RCV001710317] Chr7:5528222 [GRCh38]
Chr7:5567853 [GRCh37]
Chr7:7p22.1
benign
NM_001943.5(DSG2):c.1299T>C (p.Asp433=) single nucleotide variant not provided [RCV001710160] Chr7:5528862 [GRCh38]
Chr7:5568493 [GRCh37]
Chr7:7p22.1
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001650227] Chr7:5529082 [GRCh38]
Chr7:5568713 [GRCh37]
Chr7:7p22.1
benign
NM_001101.5(ACTB):c.491C>A (p.Pro164His) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001249679] Chr7:5528592 [GRCh38]
Chr7:5568223 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.1003C>T (p.Arg335Cys) single nucleotide variant not provided [RCV001091307] Chr7:5527873 [GRCh38]
Chr7:5567504 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.73G>A (p.Asp25Asn) single nucleotide variant not provided [RCV001171579] Chr7:5529585 [GRCh38]
Chr7:5569216 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.225C>G (p.Ile75Met) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001196388] Chr7:5529299 [GRCh38]
Chr7:5568930 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_001101.5(ACTB):c.4G>T (p.Asp2Tyr) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001254056] Chr7:5529654 [GRCh38]
Chr7:5569285 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.931G>C (p.Asp311His) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001261971] Chr7:5528057 [GRCh38]
Chr7:5567688 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.329T>G (p.Leu110Arg) single nucleotide variant Inborn genetic diseases [RCV001265814] Chr7:5529195 [GRCh38]
Chr7:5568826 [GRCh37]
Chr7:7p22.1
uncertain significance
null single nucleotide variant not provided [RCV001641275] Chr7:5527989 [GRCh38]
Chr7:5567620 [GRCh37]
Chr7:7p22.1
benign
NM_001101.5(ACTB):c.275A>G (p.Asn92Ser) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001262630] Chr7:5529249 [GRCh38]
Chr7:5568880 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_001101.5(ACTB):c.170A>C (p.Glu57Ala) single nucleotide variant Inborn genetic diseases [RCV001266308] Chr7:5529354 [GRCh38]
Chr7:5568985 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_001101.5(ACTB):c.987_990dup (p.Ala331fs) duplication Inborn genetic diseases [RCV001266828] Chr7:5527885..5527886 [GRCh38]
Chr7:5567516..5567517 [GRCh37]
Chr7:7p22.1
pathogenic
NM_001101.5(ACTB):c.364-31C>T single nucleotide variant not provided [RCV001540309] Chr7:5528750 [GRCh38]
Chr7:5568381 [GRCh37]
Chr7:7p22.1
benign
NM_001101.5(ACTB):c.930_*52del (p.Asp311fs) deletion not provided [RCV001268788] Chr7:5527696..5528058 [GRCh38]
Chr7:5567327..5567689 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.1045C>G (p.Leu349Val) single nucleotide variant not provided [RCV001565467] Chr7:5527831 [GRCh38]
Chr7:5567462 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.645G>T (p.Lys215Asn) single nucleotide variant Inborn genetic diseases [RCV001267504] Chr7:5528438 [GRCh38]
Chr7:5568069 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_001101.5(ACTB):c.1021A>G (p.Ile341Val) single nucleotide variant Inborn genetic diseases [RCV001266267] Chr7:5527855 [GRCh38]
Chr7:5567486 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_001101.5(ACTB):c.779C>A (p.Ala260Glu) single nucleotide variant Inborn genetic diseases [RCV001266081] Chr7:5528304 [GRCh38]
Chr7:5567935 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.364-7C>G single nucleotide variant Baraitser-Winter syndrome 1 [RCV001372205] Chr7:5528726 [GRCh38]
Chr7:5568357 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_001101.5(ACTB):c.-6-309C>T single nucleotide variant not provided [RCV001538126] Chr7:5529972 [GRCh38]
Chr7:5569603 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.547C>G (p.Arg183Gly) single nucleotide variant ACTB-related disorders [RCV001270849] Chr7:5528536 [GRCh38]
Chr7:5568167 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.803-9C>T single nucleotide variant Baraitser-Winter syndrome 1 [RCV001412980] Chr7:5528194 [GRCh38]
Chr7:5567825 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.31_33del (p.Asp11del) deletion Neurodevelopmental disorder [RCV001375019] Chr7:5529625..5529627 [GRCh38]
Chr7:5569256..5569258 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.802G>T (p.Gly268Cys) single nucleotide variant ACTB-related disorders [RCV001270848] Chr7:5528281 [GRCh38]
Chr7:5567912 [GRCh37]
Chr7:7p22.1
likely pathogenic
NC_000007.13:g.(?_5567359)_(5569308_?)del deletion Baraitser-Winter syndrome 1 [RCV001373974] Chr7:5567359..5569308 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_001101.5(ACTB):c.880T>G (p.Tyr294Asp) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001330283] Chr7:5528108 [GRCh38]
Chr7:5567739 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_001101.5(ACTB):c.123+3A>G single nucleotide variant Baraitser-Winter syndrome 1 [RCV001372740] Chr7:5529532 [GRCh38]
Chr7:5569163 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_001101.5(ACTB):c.756T>C (p.Asn252=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001413431] Chr7:5528327 [GRCh38]
Chr7:5567958 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.323C>A (p.Ala108Asp) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001377805] Chr7:5529201 [GRCh38]
Chr7:5568832 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.1026C>T (p.Gly342=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001400529] Chr7:5527850 [GRCh38]
Chr7:5567481 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.834C>G (p.Thr278=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001442194] Chr7:5528154 [GRCh38]
Chr7:5567785 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.621A>G (p.Glu207=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001479481] Chr7:5528462 [GRCh38]
Chr7:5568093 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.1059G>A (p.Gln353=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001392959] Chr7:5527817 [GRCh38]
Chr7:5567448 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.874dup (p.Asp292fs) duplication Baraitser-Winter syndrome 1 [RCV001528122] Chr7:5528113..5528114 [GRCh38]
Chr7:5567744..5567745 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.1014C>T (p.Ser338=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001432793] Chr7:5527862 [GRCh38]
Chr7:5567493 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.255C>T (p.Ile85=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001425880] Chr7:5529269 [GRCh38]
Chr7:5568900 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.20C>T (p.Ala7Val) single nucleotide variant ACTB-related BAFopathy [RCV001533017] Chr7:5529638 [GRCh38]
Chr7:5569269 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_001101.5(ACTB):c.70G>A (p.Asp24Asn) single nucleotide variant ACTB-related BAFopathy [RCV001533018] Chr7:5529588 [GRCh38]
Chr7:5569219 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.587G>T (p.Arg196Leu) single nucleotide variant ACTB-related BAFopathy [RCV001533047] Chr7:5528496 [GRCh38]
Chr7:5568127 [GRCh37]
Chr7:7p22.1
likely pathogenic
NM_001101.5(ACTB):c.588C>T (p.Arg196=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001393520] Chr7:5528495 [GRCh38]
Chr7:5568126 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.192C>T (p.Ile64=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001447950] Chr7:5529332 [GRCh38]
Chr7:5568963 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.786C>T (p.Phe262=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001495573] Chr7:5528297 [GRCh38]
Chr7:5567928 [GRCh37]
Chr7:7p22.1
likely benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001686752] Chr7:5528757 [GRCh38]
Chr7:5568388 [GRCh37]
Chr7:7p22.1
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001686830] Chr7:5529209 [GRCh38]
Chr7:5568840 [GRCh37]
Chr7:7p22.1
benign
NM_001101.5(ACTB):c.738G>A (p.Gln246=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001479482] Chr7:5528345 [GRCh38]
Chr7:5567976 [GRCh37]
Chr7:7p22.1
likely benign
NM_032043.3(BRIP1):c.1795-12_1795-10del deletion not provided [RCV001716149] Chr7:5530492..5530497 [GRCh38]
Chr7:5570123..5570128 [GRCh37]
Chr7:7p22.1
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) deletion not provided [RCV001686546] Chr7:5527624 [GRCh38]
Chr7:5567255 [GRCh37]
Chr7:7p22.1
benign
NM_001101.5(ACTB):c.985-5_985-3del microsatellite Baraitser-Winter syndrome 1 [RCV001460317] Chr7:5527894..5527896 [GRCh38]
Chr7:5567525..5567527 [GRCh37]
Chr7:7p22.1
likely benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) duplication not provided [RCV001589701] Chr7:5527651..5527652 [GRCh38]
Chr7:5567282..5567283 [GRCh37]
Chr7:7p22.1
likely benign
null deletion not provided [RCV001616723] Chr7:5530475..5530490 [GRCh38]
Chr7:5570106..5570121 [GRCh37]
Chr7:7p22.1
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001592210] Chr7:5528426 [GRCh38]
Chr7:5568057 [GRCh37]
Chr7:7p22.1
likely benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001687449] Chr7:5528381 [GRCh38]
Chr7:5568012 [GRCh37]
Chr7:7p22.1
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001681138] Chr7:5528441 [GRCh38]
Chr7:5568072 [GRCh37]
Chr7:7p22.1
benign
NM_001101.5(ACTB):c.537C>T (p.Asp179=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001473225] Chr7:5528546 [GRCh38]
Chr7:5568177 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.579C>A (p.Leu193=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001502242] Chr7:5528504 [GRCh38]
Chr7:5568135 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.1053C>T (p.Thr351=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001500177] Chr7:5527823 [GRCh38]
Chr7:5567454 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.687G>T (p.Thr229=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001471064] Chr7:5528396 [GRCh38]
Chr7:5568027 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.822C>T (p.Ile274=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001485069] Chr7:5528166 [GRCh38]
Chr7:5567797 [GRCh37]
Chr7:7p22.1
likely benign
NM_001101.5(ACTB):c.1041C>T (p.Ala347=) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001517519] Chr7:5527835 [GRCh38]
Chr7:5567466 [GRCh37]
Chr7:7p22.1
benign
NM_001101.5(ACTB):c.728C>T (p.Pro243Leu) single nucleotide variant Baraitser-Winter syndrome 1 [RCV001376059] Chr7:5528355 [GRCh38]
Chr7:5567986 [GRCh37]
Chr7:7p22.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:132 AgrOrtholog
COSMIC ACTB COSMIC
Ensembl Genes ENSG00000075624 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000393951 UniProtKB/TrEMBL
  ENSP00000399487 UniProtKB/TrEMBL
  ENSP00000401032 UniProtKB/TrEMBL
  ENSP00000407473 UniProtKB/TrEMBL
  ENSP00000409264 UniProtKB/TrEMBL
  ENSP00000494185 UniProtKB/TrEMBL
  ENSP00000494269 UniProtKB/Swiss-Prot
  ENSP00000494750 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000495059 UniProtKB/TrEMBL
  ENSP00000495995 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSP00000496101 UniProtKB/TrEMBL