RPS6KA3 (ribosomal protein S6 kinase A3) - Rat Genome Database

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Gene: RPS6KA3 (ribosomal protein S6 kinase A3) Homo sapiens
Analyze
Symbol: RPS6KA3
Name: ribosomal protein S6 kinase A3
RGD ID: 1354498
HGNC Page HGNC
Description: Exhibits cysteine-type endopeptidase inhibitor activity involved in apoptotic process. Involved in negative regulation of cysteine-type endopeptidase activity involved in apoptotic process and positive regulation of transcription by RNA polymerase II. Localizes to cytosol; nucleolus; and nucleoplasm. Implicated in Coffin-Lowry syndrome; intellectual disability; and non-syndromic X-linked intellectual disability 19.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 90 kDa ribosomal protein S6 kinase 3; CLS; Coffin-Lowry syndrome; HU-3; insulin-stimulated protein kinase 1; ISPK-1; MAP kinase-activated protein kinase 1b; MAPK-activated protein kinase 1b; MAPKAP kinase 1b; MAPKAPK-1b; MAPKAPK1B; mental retardation, X-linked 19; MRX19; p90-RSK 3; p90-RSK2; p90RSK3; pp90RSK2; ribosomal protein S6 kinase alpha-3; ribosomal protein S6 kinase, 90kDa, polypeptide 3; ribosomal S6 kinase 2; RSK; RSK-2; RSK2; S6K-alpha-3; S6K-alpha3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX20,149,911 - 20,267,519 (-)EnsemblGRCh38hg38GRCh38
GRCh38X20,149,911 - 20,267,514 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X20,168,029 - 20,285,027 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X20,077,950 - 20,194,671 (-)NCBINCBI36hg18NCBI36
Build 34X19,927,686 - 20,044,407NCBI
CeleraX24,292,410 - 24,377,495 (-)NCBI
Cytogenetic MapXp22.12NCBI
HuRefX17,910,375 - 17,994,979 (-)NCBIHuRef
CHM1_1X20,198,431 - 20,315,161 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-hydroxypropanoic acid  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-vinylcyclohexene dioxide  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
aflatoxin B2  (EXP)
all-trans-retinoic acid  (EXP)
arsenous acid  (ISO)
atrazine  (EXP)
benzo[a]pyrene  (EXP)
bisphenol A  (EXP,ISO)
butanal  (EXP)
cadmium dichloride  (EXP)
caffeine  (EXP)
calcitriol  (EXP)
capsaicin  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
choline  (ISO)
cisplatin  (EXP)
cobalt dichloride  (ISO)
cocaine  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP)
daidzein  (EXP)
diarsenic trioxide  (ISO)
doxorubicin  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
folic acid  (ISO)
genistein  (EXP)
glycitein  (EXP)
hydrogen peroxide  (ISO)
hydroquinone O-beta-D-glucopyranoside  (EXP)
L-methionine  (ISO)
lycopene  (EXP)
menadione  (EXP)
methotrexate  (ISO)
methyl methanesulfonate  (EXP)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (EXP)
nickel atom  (EXP)
paracetamol  (EXP,ISO)
PCB138  (ISO)
pentanal  (EXP)
phenytoin  (ISO)
potassium chromate  (EXP)
progesterone  (EXP)
quercetin  (EXP)
rac-lactic acid  (EXP)
sertraline  (EXP)
silicon dioxide  (EXP,ISO)
silver atom  (EXP)
silver(0)  (EXP)
sirolimus  (ISO)
sodium arsenite  (EXP)
sulfates  (EXP)
sunitinib  (EXP)
tamibarotene  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
tetrahydropalmatine  (EXP)
thioacetamide  (EXP,ISO)
tributylstannane  (ISO)
triptonide  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
Y-27632  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA)
cytosol  (IDA,TAS)
nucleolus  (IDA)
nucleoplasm  (IBA,IDA,TAS)
ribosome  (IEA)
synapse  (IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
2-3 toe syndactyly  (IAGP)
Abnormal aortic valve morphology  (IAGP)
Abnormal diaphysis morphology  (IAGP)
Abnormal form of the vertebral bodies  (IAGP)
Abnormal hair morphology  (IAGP)
Abnormal mitral valve morphology  (IAGP)
Abnormal tricuspid valve morphology  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Abnormality of dental morphology  (IAGP)
Abnormality of neuronal migration  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of the nasal alae  (IAGP)
Acrocyanosis  (IAGP)
Advanced eruption of teeth  (IAGP)
Anodontia  (IAGP)
Anteverted nares  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Aplasia/Hypoplasia of the corpus callosum  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autistic behavior  (IAGP)
Babinski sign  (IAGP)
Bifid sternum  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Bipolar affective disorder  (IAGP)
Brachydactyly  (IAGP)
Broad finger  (IAGP)
Broad nasal tip  (IAGP)
Broad palm  (IAGP)
Cataract  (IAGP)
Cerebral cortical atrophy  (IAGP)
Clinodactyly of the 2nd toe  (IAGP)
Coarse facial features  (IAGP)
Coarse hair  (IAGP)
Coxa valga  (IAGP)
Craniofacial hyperostosis  (IAGP)
Cutis laxa  (IAGP)
Cutis marmorata  (IAGP)
Death in early adulthood  (IAGP)
Decreased body weight  (IAGP)
Delayed closure of the anterior fontanelle  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed skeletal maturation  (IAGP)
Delayed speech and language development  (IAGP)
Dental crowding  (IAGP)
Dental malocclusion  (IAGP)
Depressed nasal bridge  (IAGP)
Depressivity  (IAGP)
Downslanted palpebral fissures  (IAGP)
Drooling  (IAGP)
Drumstick terminal phalanges  (IAGP)
Epicanthus  (IAGP)
Everted lower lip vermilion  (IAGP)
Facial palsy  (IAGP)
Feeding difficulties in infancy  (IAGP)
Frontal bossing  (IAGP)
Gait disturbance  (IAGP)
Generalized hypotonia  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Global developmental delay  (IAGP)
High palate  (IAGP)
Highly arched eyebrow  (IAGP)
Hyperconvex fingernails  (IAGP)
Hyperextensibility of the finger joints  (IAGP)
Hypertelorism  (IAGP)
Hypodontia  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypoplastic fingernail  (IAGP)
Hypotonia  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, profound  (IAGP)
Intellectual disability, severe  (IAGP)
Joint hyperflexibility  (IAGP)
Kyphoscoliosis  (IAGP)
Kyphosis  (IAGP)
Large hands  (IAGP)
Long foot  (IAGP)
Long palpebral fissure  (IAGP)
Long philtrum  (IAGP)
Lumbar kyphosis  (IAGP)
Macrocephaly  (IAGP)
Mandibular prognathia  (IAGP)
Meckel diverticulum  (IAGP)
Microcephaly  (IAGP)
Midface retrusion  (IAGP)
Mild neurosensory hearing impairment  (IAGP)
Mitral regurgitation  (IAGP)
Moderate sensorineural hearing impairment  (IAGP)
Motor delay  (IAGP)
Muscle weakness  (IAGP)
Narrow iliac wing  (IAGP)
Narrow palate  (IAGP)
Neurological speech impairment  (IAGP)
Obesity  (IAGP)
Oligodontia  (IAGP)
Open mouth  (IAGP)
Optic atrophy  (IAGP)
Pectus carinatum  (IAGP)
Pectus excavatum  (IAGP)
Periorbital fullness  (IAGP)
Pes planus  (IAGP)
Poor speech  (IAGP)
Progressive spasticity  (IAGP)
Prominent forehead  (IAGP)
Prominent supraorbital ridges  (IAGP)
Protruding ear  (IAGP)
Pseudoepiphyses of the metacarpals  (IAGP)
Psychosis  (IAGP)
Pyloric stenosis  (IAGP)
Rectal prolapse  (IAGP)
Redundant skin  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe global developmental delay  (IAGP)
Short distal phalanx of finger  (IAGP)
Short metacarpal  (IAGP)
Short stature  (IAGP)
Shortening of all distal phalanges of the fingers  (IAGP)
Single transverse palmar crease  (IAGP)
Skeletal muscle atrophy  (IAGP)
Sleep apnea  (IAGP)
Small for gestational age  (IAGP)
Sporadic  (IAGP)
Strabismus  (IAGP)
Tapered finger  (IAGP)
Telecanthus  (IAGP)
Thick eyebrow  (IAGP)
Thick lower lip vermilion  (IAGP)
Thick nasal alae  (IAGP)
Thick nasal septum  (IAGP)
Thickened calvaria  (IAGP)
Thin upper lip vermilion  (IAGP)
Urinary incontinence  (IAGP)
Uterine prolapse  (IAGP)
Ventriculomegaly  (IAGP)
Wide mouth  (IAGP)
Wide nose  (IAGP)
Widely spaced teeth  (IAGP)
Widened subarachnoid space  (IAGP)
X-linked dominant inheritance  (IAGP)
References

Additional References at PubMed
PMID:1374067   PMID:7523419   PMID:7566098   PMID:7623830   PMID:7813820   PMID:7943043   PMID:8141249   PMID:8688081   PMID:8939914   PMID:9353289   PMID:9528769   PMID:9546672  
PMID:9687510   PMID:9770464   PMID:9829964   PMID:9832145   PMID:9837815   PMID:9887375   PMID:9915826   PMID:10094187   PMID:10094392   PMID:10436156   PMID:10480933   PMID:10528858  
PMID:10739259   PMID:10856237   PMID:10862698   PMID:11139588   PMID:11157753   PMID:11160957   PMID:11175347   PMID:11181841   PMID:11297520   PMID:11311121   PMID:11404397   PMID:11432835  
PMID:11438671   PMID:11495723   PMID:11507039   PMID:11544290   PMID:11564891   PMID:11752456   PMID:11853558   PMID:11896450   PMID:11992250   PMID:12016217   PMID:12054624   PMID:12387894  
PMID:12393804   PMID:12439904   PMID:12477932   PMID:12562765   PMID:12601080   PMID:12773393   PMID:12777533   PMID:12792428   PMID:12796492   PMID:12832467   PMID:14678837   PMID:14702039  
PMID:14973203   PMID:14986828   PMID:15109498   PMID:15276183   PMID:15489334   PMID:15515167   PMID:15772651   PMID:15833840   PMID:15861136   PMID:15867353   PMID:15879597   PMID:15919995  
PMID:16217014   PMID:16223362   PMID:16537434   PMID:16626623   PMID:16691578   PMID:16879200   PMID:16964243   PMID:17081983   PMID:17100996   PMID:17192257   PMID:17213202   PMID:17225856  
PMID:17318637   PMID:17512525   PMID:17938253   PMID:18029348   PMID:18156174   PMID:18402937   PMID:18722121   PMID:18775331   PMID:18813292   PMID:18976975   PMID:19036157   PMID:19129453  
PMID:19150432   PMID:19435896   PMID:19453261   PMID:19716794   PMID:19953087   PMID:20234090   PMID:20301520   PMID:20383198   PMID:20385620   PMID:20819778   PMID:21061166   PMID:21183680  
PMID:21224359   PMID:21501342   PMID:21614984   PMID:21619683   PMID:21873635   PMID:21900206   PMID:21930553   PMID:21988832   PMID:22031759   PMID:22065586   PMID:22113269   PMID:22213050  
PMID:22685297   PMID:22863883   PMID:22918890   PMID:22939624   PMID:23041051   PMID:23118220   PMID:23329845   PMID:23455922   PMID:23541530   PMID:23602568   PMID:23608533   PMID:24085294  
PMID:24086335   PMID:24141780   PMID:24189400   PMID:24284076   PMID:24311527   PMID:24416220   PMID:24719417   PMID:24797263   PMID:25002506   PMID:25044551   PMID:25241761   PMID:25513777  
PMID:25544563   PMID:25624005   PMID:25855080   PMID:25889895   PMID:25921289   PMID:25992613   PMID:26158630   PMID:26186194   PMID:26297997   PMID:26344197   PMID:26354035   PMID:26496610  
PMID:26625210   PMID:26760575   PMID:26977024   PMID:27041561   PMID:27082640   PMID:27476168   PMID:27491410   PMID:27503909   PMID:27829215   PMID:28013489   PMID:28314444   PMID:28409880  
PMID:28514442   PMID:28582508   PMID:28675297   PMID:28733463   PMID:28902428   PMID:28914261   PMID:29133416   PMID:29279389   PMID:29351904   PMID:29371914   PMID:29395067   PMID:29396548  
PMID:29440170   PMID:29563609   PMID:30126195   PMID:30463901   PMID:30737378   PMID:30833792   PMID:30942462   PMID:30945684   PMID:31018569   PMID:31091453   PMID:31400131   PMID:31678930  
PMID:31950832   PMID:31980649   PMID:32786267   PMID:32814053   PMID:32958832   PMID:33001583   PMID:33069758  


Genomics

Comparative Map Data
RPS6KA3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX20,149,911 - 20,267,519 (-)EnsemblGRCh38hg38GRCh38
GRCh38X20,149,911 - 20,267,514 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X20,168,029 - 20,285,027 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X20,077,950 - 20,194,671 (-)NCBINCBI36hg18NCBI36
Build 34X19,927,686 - 20,044,407NCBI
CeleraX24,292,410 - 24,377,495 (-)NCBI
Cytogenetic MapXp22.12NCBI
HuRefX17,910,375 - 17,994,979 (-)NCBIHuRef
CHM1_1X20,198,431 - 20,315,161 (-)NCBICHM1_1
Rps6ka3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X158,038,652 - 158,151,240 (+)NCBIGRCm39mm39
GRCm39 EnsemblX157,993,303 - 158,151,240 (+)Ensembl
GRCm38X159,255,665 - 159,368,244 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX159,210,307 - 159,368,244 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X155,694,052 - 155,801,417 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X154,600,225 - 154,707,590 (+)NCBImm8
CeleraX142,502,588 - 142,610,345 (+)NCBICelera
Cytogenetic MapXF4NCBI
cM MapX73.27NCBI
Rps6ka3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X35,517,306 - 35,623,296 (-)NCBI
Rnor_6.0 EnsemblX37,469,937 - 37,575,624 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X37,469,736 - 37,576,055 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X37,777,188 - 37,880,963 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X56,722,878 - 56,825,444 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX36,172,781 - 36,274,458 (-)NCBICelera
Cytogenetic MapXq14NCBI
Rps6ka3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955509600,284 - 701,837 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955509600,415 - 701,833 (-)NCBIChiLan1.0ChiLan1.0
RPS6KA3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X20,131,474 - 20,251,244 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX20,133,898 - 20,251,244 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X12,772,368 - 12,893,062 (-)NCBIMhudiblu_PPA_v0panPan3
RPS6KA3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X15,991,623 - 16,079,689 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX15,998,172 - 16,074,749 (+)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X16,014,242 - 16,126,834 (-)NCBI
UMICH_Zoey_3.1X16,063,855 - 16,176,430 (-)NCBI
UNSW_CanFamBas_1.0X16,071,626 - 16,184,200 (-)NCBI
UU_Cfam_GSD_1.0X16,133,724 - 16,246,281 (-)NCBI
Rps6ka3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X9,152,237 - 9,260,014 (-)NCBI
SpeTri2.0NW_0049366243,897,878 - 4,005,664 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RPS6KA3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX16,452,405 - 16,575,364 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X16,452,401 - 16,576,854 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X17,719,536 - 17,833,531 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RPS6KA3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X18,614,664 - 18,730,591 (-)NCBI
ChlSab1.1 EnsemblX18,620,159 - 18,730,581 (-)Ensembl
Vero_WHO_p1.0NW_02366605620,472,991 - 20,589,270 (-)NCBI
Rps6ka3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248294,978,181 - 5,087,493 (-)NCBI

Position Markers
D2S2582  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372114,715,644 - 114,715,822UniSTSGRCh37
Build 362114,432,114 - 114,432,292RGDNCBI36
Celera2108,036,170 - 108,036,348RGD
Cytogenetic Map2q14.1UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
HuRef2107,036,166 - 107,036,344UniSTS
GeneMap99-G3 RH Map25754.0UniSTS
DXS1516  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X20,173,787 - 20,173,881UniSTSGRCh37
Build 36X20,083,708 - 20,083,802RGDNCBI36
CeleraX24,297,855 - 24,297,949RGD
Cytogenetic MapXp22.2-p22.1UniSTS
HuRefX17,916,051 - 17,916,145UniSTS
WI-20350  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372114,715,583 - 114,715,809UniSTSGRCh37
Build 362114,432,053 - 114,432,279RGDNCBI36
Celera2108,036,109 - 108,036,335RGD
Cytogenetic Map2q14.1UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
HuRef2107,036,105 - 107,036,331UniSTS
GeneMap99-GB4 RH Map2416.12UniSTS
Whitehead-RH Map2585.9UniSTS
1037J10_T7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X20,256,289 - 20,256,516UniSTSGRCh37
Build 36X20,166,210 - 20,166,437RGDNCBI36
CeleraX24,380,900 - 24,381,371UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
HuRefX17,998,336 - 17,998,511UniSTS
RH36312  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X20,194,465 - 20,194,620UniSTSGRCh37
Build 36X20,104,386 - 20,104,541RGDNCBI36
CeleraX24,319,093 - 24,319,248RGD
Cytogenetic MapXp22.2-p22.1UniSTS
HuRefX17,936,516 - 17,936,671UniSTS
GeneMap99-GB4 RH MapX93.95UniSTS
NCBI RH MapX20.5UniSTS
A010B08  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X20,194,385 - 20,194,580UniSTSGRCh37
Build 36X20,104,306 - 20,104,501RGDNCBI36
CeleraX24,319,013 - 24,319,208RGD
Cytogenetic MapXp22.2-p22.1UniSTS
HuRefX17,936,436 - 17,936,631UniSTS
GeneMap99-GB4 RH MapX88.99UniSTS
NCBI RH MapX10.0UniSTS
RH69875  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X20,211,527 - 20,211,650UniSTSGRCh37
Build 36X20,121,448 - 20,121,571RGDNCBI36
CeleraX24,336,163 - 24,336,286RGD
Cytogenetic MapXp22.2-p22.1UniSTS
HuRefX17,953,656 - 17,953,779UniSTS
GeneMap99-GB4 RH MapX93.95UniSTS
NCBI RH MapX20.5UniSTS
DXS6969E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X20,172,760 - 20,172,841UniSTSGRCh37
Build 36X20,082,681 - 20,082,762RGDNCBI36
CeleraX24,296,890 - 24,296,971RGD
Cytogenetic MapXp22.2-p22.1UniSTS
GeneMap99-GB4 RH MapX93.95UniSTS
NCBI RH MapX20.5UniSTS
D10S275  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map13q12.13UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map6q24UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map3p25UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map20pter-q11.23UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map3q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11p14.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map6q12-q13UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2p14UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
G33067  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X20,194,385 - 20,194,580UniSTSGRCh37
CeleraX24,319,013 - 24,319,208UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
HuRefX17,936,436 - 17,936,631UniSTS
RPS6KA3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X20,173,542 - 20,174,258UniSTSGRCh37
GRCh37X20,173,359 - 20,173,502UniSTSGRCh37
CeleraX24,297,610 - 24,298,326UniSTS
CeleraX24,297,427 - 24,297,570UniSTS
HuRefX17,915,623 - 17,915,766UniSTS
HuRefX17,915,806 - 17,916,522UniSTS
RPS6KA3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X20,173,542 - 20,174,258UniSTSGRCh37
GRCh37X20,173,359 - 20,173,502UniSTSGRCh37
CeleraX24,297,610 - 24,298,326UniSTS
CeleraX24,297,427 - 24,297,570UniSTS
HuRefX17,915,623 - 17,915,766UniSTS
HuRefX17,915,806 - 17,916,522UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5496
Count of miRNA genes:1457
Interacting mature miRNAs:1948
Transcripts:ENST00000379548, ENST00000379565, ENST00000438357, ENST00000457145, ENST00000474266, ENST00000479809, ENST00000492128, ENST00000540702, ENST00000544447
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2182 2031 1442 486 1674 338 4212 1779 1673 304 1003 1599 161 1189 2730 3
Low 256 960 284 138 275 127 144 416 2050 114 454 14 13 1 15 58 1 2
Below cutoff 1 10 1 3 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA317826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA858312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB208933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF405606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL732366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL807772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV684171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ427696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU618685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA843287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA843526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK905714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L07599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U08316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  W00439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000379565   ⟹   ENSP00000368884
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX20,149,911 - 20,266,909 (-)Ensembl
RefSeq Acc Id: ENST00000438357   ⟹   ENSP00000388512
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX20,204,066 - 20,266,100 (-)Ensembl
RefSeq Acc Id: ENST00000457145   ⟹   ENSP00000407655
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX20,154,835 - 20,218,959 (-)Ensembl
RefSeq Acc Id: ENST00000474266
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX20,203,362 - 20,218,870 (-)Ensembl
RefSeq Acc Id: ENST00000479809   ⟹   ENSP00000494866
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX20,155,441 - 20,172,864 (-)Ensembl
RefSeq Acc Id: ENST00000642835   ⟹   ENSP00000494769
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX20,154,978 - 20,267,089 (-)Ensembl
RefSeq Acc Id: ENST00000643073   ⟹   ENSP00000495839
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX20,154,846 - 20,234,769 (-)Ensembl
RefSeq Acc Id: ENST00000643085   ⟹   ENSP00000496271
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX20,153,662 - 20,266,606 (-)Ensembl
RefSeq Acc Id: ENST00000643337   ⟹   ENSP00000493487
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX20,154,966 - 20,267,405 (-)Ensembl
RefSeq Acc Id: ENST00000643402   ⟹   ENSP00000493862
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX20,154,590 - 20,267,519 (-)Ensembl
RefSeq Acc Id: ENST00000644368   ⟹   ENSP00000495776
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX20,154,751 - 20,266,659 (-)Ensembl
RefSeq Acc Id: ENST00000644893   ⟹   ENSP00000495974
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX20,155,257 - 20,267,066 (-)Ensembl
RefSeq Acc Id: ENST00000645268   ⟹   ENSP00000496226
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX20,154,796 - 20,267,094 (-)Ensembl
RefSeq Acc Id: ENST00000645270   ⟹   ENSP00000494967
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX20,153,807 - 20,266,627 (-)Ensembl
RefSeq Acc Id: ENST00000646610   ⟹   ENSP00000495462
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX20,154,932 - 20,267,100 (-)Ensembl
RefSeq Acc Id: ENST00000647265   ⟹   ENSP00000494220
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX20,154,787 - 20,265,617 (-)Ensembl
RefSeq Acc Id: NM_004586   ⟹   NP_004577
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,149,911 - 20,266,909 (-)NCBI
GRCh37X20,168,029 - 20,285,523 (-)NCBI
Build 36X20,077,950 - 20,194,671 (-)NCBI Archive
HuRefX17,910,375 - 17,994,979 (-)ENTREZGENE
CHM1_1X20,198,431 - 20,315,161 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274573   ⟹   XP_005274630
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,149,911 - 20,266,636 (-)NCBI
GRCh37X20,168,029 - 20,285,523 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274577   ⟹   XP_005274634
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,149,911 - 20,218,891 (-)NCBI
GRCh37X20,168,029 - 20,285,523 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006724507   ⟹   XP_006724570
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,149,911 - 20,267,082 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545555   ⟹   XP_011543857
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,149,911 - 20,266,636 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545556   ⟹   XP_011543858
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,149,911 - 20,266,636 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545557   ⟹   XP_011543859
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,149,911 - 20,266,623 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545558   ⟹   XP_011543860
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,149,911 - 20,266,623 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545560   ⟹   XP_011543862
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,149,911 - 20,266,633 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545561   ⟹   XP_011543863
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,149,911 - 20,267,100 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545562   ⟹   XP_011543864
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,149,911 - 20,218,891 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545563   ⟹   XP_011543865
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,149,911 - 20,266,622 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029713   ⟹   XP_016885202
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,149,911 - 20,267,084 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029714   ⟹   XP_016885203
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,149,911 - 20,266,622 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029715   ⟹   XP_016885204
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,149,911 - 20,267,073 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029716   ⟹   XP_016885205
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,149,911 - 20,267,514 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029717   ⟹   XP_016885206
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,149,911 - 20,267,100 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029718   ⟹   XP_016885207
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,149,911 - 20,218,891 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029719   ⟹   XP_016885208
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,149,911 - 20,267,100 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_004577 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274630 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274634 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724570 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543857 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543858 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543859 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543860 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543862 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543863 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543864 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543865 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885202 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885203 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885204 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885205 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885206 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885207 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885208 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA81952 (Get FASTA)   NCBI Sequence Viewer  
  AAC82495 (Get FASTA)   NCBI Sequence Viewer  
  AAH96301 (Get FASTA)   NCBI Sequence Viewer  
  AAH96302 (Get FASTA)   NCBI Sequence Viewer  
  AAH96303 (Get FASTA)   NCBI Sequence Viewer  
  AAL87803 (Get FASTA)   NCBI Sequence Viewer  
  ADO22396 (Get FASTA)   NCBI Sequence Viewer  
  BAC80810 (Get FASTA)   NCBI Sequence Viewer  
  BAC80811 (Get FASTA)   NCBI Sequence Viewer  
  BAC80812 (Get FASTA)   NCBI Sequence Viewer  
  BAC80813 (Get FASTA)   NCBI Sequence Viewer  
  BAC80814 (Get FASTA)   NCBI Sequence Viewer  
  BAC80815 (Get FASTA)   NCBI Sequence Viewer  
  BAC80816 (Get FASTA)   NCBI Sequence Viewer  
  BAC80817 (Get FASTA)   NCBI Sequence Viewer  
  BAC80818 (Get FASTA)   NCBI Sequence Viewer  
  BAC80819 (Get FASTA)   NCBI Sequence Viewer  
  BAC80820 (Get FASTA)   NCBI Sequence Viewer  
  BAC80821 (Get FASTA)   NCBI Sequence Viewer  
  BAC80822 (Get FASTA)   NCBI Sequence Viewer  
  BAC80823 (Get FASTA)   NCBI Sequence Viewer  
  BAC80824 (Get FASTA)   NCBI Sequence Viewer  
  BAC80825 (Get FASTA)   NCBI Sequence Viewer  
  BAC80826 (Get FASTA)   NCBI Sequence Viewer  
  BAC80827 (Get FASTA)   NCBI Sequence Viewer  
  BAC80828 (Get FASTA)   NCBI Sequence Viewer  
  BAC80829 (Get FASTA)   NCBI Sequence Viewer  
  BAC80840 (Get FASTA)   NCBI Sequence Viewer  
  BAC80841 (Get FASTA)   NCBI Sequence Viewer  
  BAC80842 (Get FASTA)   NCBI Sequence Viewer  
  BAC80843 (Get FASTA)   NCBI Sequence Viewer  
  BAC80844 (Get FASTA)   NCBI Sequence Viewer  
  BAC80845 (Get FASTA)   NCBI Sequence Viewer  
  BAC80846 (Get FASTA)   NCBI Sequence Viewer  
  BAC80847 (Get FASTA)   NCBI Sequence Viewer  
  BAC80848 (Get FASTA)   NCBI Sequence Viewer  
  BAC80849 (Get FASTA)   NCBI Sequence Viewer  
  BAC80850 (Get FASTA)   NCBI Sequence Viewer  
  BAC80851 (Get FASTA)   NCBI Sequence Viewer  
  BAC80852 (Get FASTA)   NCBI Sequence Viewer  
  BAC80853 (Get FASTA)   NCBI Sequence Viewer  
  BAC80854 (Get FASTA)   NCBI Sequence Viewer  
  BAC80855 (Get FASTA)   NCBI Sequence Viewer  
  BAC80856 (Get FASTA)   NCBI Sequence Viewer  
  BAC80857 (Get FASTA)   NCBI Sequence Viewer  
  BAC80858 (Get FASTA)   NCBI Sequence Viewer  
  BAC80859 (Get FASTA)   NCBI Sequence Viewer  
  BAC80870 (Get FASTA)   NCBI Sequence Viewer  
  BAC80871 (Get FASTA)   NCBI Sequence Viewer  
  BAC80872 (Get FASTA)   NCBI Sequence Viewer  
  BAC80873 (Get FASTA)   NCBI Sequence Viewer  
  BAC80874 (Get FASTA)   NCBI Sequence Viewer  
  BAC80875 (Get FASTA)   NCBI Sequence Viewer  
  BAC80876 (Get FASTA)   NCBI Sequence Viewer  
  BAC80877 (Get FASTA)   NCBI Sequence Viewer  
  BAC80878 (Get FASTA)   NCBI Sequence Viewer  
  BAC80879 (Get FASTA)   NCBI Sequence Viewer  
  BAC80880 (Get FASTA)   NCBI Sequence Viewer  
  BAC80881 (Get FASTA)   NCBI Sequence Viewer  
  BAC80882 (Get FASTA)   NCBI Sequence Viewer  
  BAC80883 (Get FASTA)   NCBI Sequence Viewer  
  BAC80884 (Get FASTA)   NCBI Sequence Viewer  
  BAC80885 (Get FASTA)   NCBI Sequence Viewer  
  BAC80886 (Get FASTA)   NCBI Sequence Viewer  
  BAC80887 (Get FASTA)   NCBI Sequence Viewer  
  BAC80888 (Get FASTA)   NCBI Sequence Viewer  
  BAC80889 (Get FASTA)   NCBI Sequence Viewer  
  BAC81131 (Get FASTA)   NCBI Sequence Viewer  
  BAD92170 (Get FASTA)   NCBI Sequence Viewer  
  BAG36651 (Get FASTA)   NCBI Sequence Viewer  
  BAG57633 (Get FASTA)   NCBI Sequence Viewer  
  BAG59354 (Get FASTA)   NCBI Sequence Viewer  
  BAH14853 (Get FASTA)   NCBI Sequence Viewer  
  P51812 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_004577   ⟸   NM_004586
- UniProtKB: P51812 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005274630   ⟸   XM_005274573
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_005274634   ⟸   XM_005274577
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_006724570   ⟸   XM_006724507
- Peptide Label: isoform X8
- UniProtKB: B4DG22 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011543863   ⟸   XM_011545561
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011543865   ⟸   XM_011545563
- Peptide Label: isoform X6
- UniProtKB: B7ZB17 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011543859   ⟸   XM_011545557
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011543860   ⟸   XM_011545558
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011543858   ⟸   XM_011545556
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011543857   ⟸   XM_011545555
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011543862   ⟸   XM_011545560
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011543864   ⟸   XM_011545562
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016885205   ⟸   XM_017029716
- Peptide Label: isoform X6
- UniProtKB: B7ZB17 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885204   ⟸   XM_017029715
- Peptide Label: isoform X6
- UniProtKB: B7ZB17 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885202   ⟸   XM_017029713
- Peptide Label: isoform X6
- UniProtKB: B7ZB17 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885208   ⟸   XM_017029719
- Peptide Label: isoform X8
- UniProtKB: B4DG22 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885206   ⟸   XM_017029717
- Peptide Label: isoform X6
- UniProtKB: B7ZB17 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885203   ⟸   XM_017029714
- Peptide Label: isoform X6
- UniProtKB: B7ZB17 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885207   ⟸   XM_017029718
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: ENSP00000388512   ⟸   ENST00000438357
RefSeq Acc Id: ENSP00000494866   ⟸   ENST00000479809
RefSeq Acc Id: ENSP00000407655   ⟸   ENST00000457145
RefSeq Acc Id: ENSP00000368884   ⟸   ENST00000379565
RefSeq Acc Id: ENSP00000494769   ⟸   ENST00000642835
RefSeq Acc Id: ENSP00000493487   ⟸   ENST00000643337
RefSeq Acc Id: ENSP00000496271   ⟸   ENST00000643085
RefSeq Acc Id: ENSP00000495839   ⟸   ENST00000643073
RefSeq Acc Id: ENSP00000493862   ⟸   ENST00000643402
RefSeq Acc Id: ENSP00000495776   ⟸   ENST00000644368
RefSeq Acc Id: ENSP00000495974   ⟸   ENST00000644893
RefSeq Acc Id: ENSP00000494967   ⟸   ENST00000645270
RefSeq Acc Id: ENSP00000496226   ⟸   ENST00000645268
RefSeq Acc Id: ENSP00000495462   ⟸   ENST00000646610
RefSeq Acc Id: ENSP00000494220   ⟸   ENST00000647265
Promoters
RGD ID:6809239
Promoter ID:HG_KWN:66213
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000056015
Position:
Human AssemblyChrPosition (strand)Source
Build 36X20,101,021 - 20,101,521 (-)MPROMDB
RGD ID:6809240
Promoter ID:HG_KWN:66215
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000056011,   OTTHUMT00000056013,   OTTHUMT00000268190,   UC004CZV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X20,194,646 - 20,195,577 (-)MPROMDB
RGD ID:13604900
Promoter ID:EPDNEW_H28634
Type:initiation region
Name:RPS6KA3_2
Description:ribosomal protein S6 kinase A3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28635  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,266,637 - 20,266,697EPDNEW
RGD ID:13604902
Promoter ID:EPDNEW_H28635
Type:initiation region
Name:RPS6KA3_1
Description:ribosomal protein S6 kinase A3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28634  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X20,266,882 - 20,266,942EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004586.3(RPS6KA3):c.1000-7C>T single nucleotide variant Coffin-Lowry syndrome [RCV000553729] ChrX:20176359 [GRCh38]
ChrX:20194477 [GRCh37]
ChrX:Xp22.12
likely benign
NM_004586.3(RPS6KA3):c.1960-3C>T single nucleotide variant not provided [RCV000519632] ChrX:20156252 [GRCh38]
ChrX:20174370 [GRCh37]
ChrX:Xp22.12
uncertain significance
RPS6KA3, 187-BP DEL, NT406 deletion Coffin-Lowry syndrome [RCV000012416] ChrX:Xp22.2-p22.1 pathogenic
NM_004586.3(RPS6KA3):c.326-1G>C single nucleotide variant Coffin-Lowry syndrome [RCV000012420] ChrX:20195146 [GRCh38]
ChrX:20213264 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_004586.3(RPS6KA3):c.451_452del (p.Arg151fs) deletion Coffin-Lowry syndrome [RCV000012422] ChrX:20194223..20194224 [GRCh38]
ChrX:20212341..20212342 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_004586.3(RPS6KA3):c.486+3A>G single nucleotide variant Coffin-Lowry syndrome [RCV000012427] ChrX:20194186 [GRCh38]
ChrX:20212304 [GRCh37]
ChrX:Xp22.12
pathogenic
RPS6KA3, IVS5, A-G, -11 single nucleotide variant Coffin-Lowry syndrome [RCV000012428] ChrX:Xp22.2-p22.1 pathogenic
NM_004586.3(RPS6KA3):c.2144del (p.Ser715fs) deletion Coffin-Lowry syndrome [RCV000012429] ChrX:20155477 [GRCh38]
ChrX:20173595 [GRCh37]
ChrX:Xp22.12
pathogenic
RPS6KA3, IVS12, A-G, -2 single nucleotide variant Coffin-Lowry syndrome [RCV000012430] ChrX:Xp22.2-p22.1 pathogenic
RPS6KA3, IVS3, L1 INS, -8 insertion Coffin-Lowry syndrome [RCV000012431] ChrX:Xp22.2-p22.1 pathogenic
NM_004586.3(RPS6KA3):c.1428_1430del (p.Ile477del) deletion Coffin-Lowry syndrome [RCV000012433] ChrX:20169415..20169417 [GRCh38]
ChrX:20187533..20187535 [GRCh37]
ChrX:Xp22.12
pathogenic
RPS6KA3, DUP EXONS 17-20, NT1959 duplication Coffin-Lowry syndrome [RCV000012434] ChrX:Xp22.2-p22.1 pathogenic
RPS6KA3, 7.2-KB DEL deletion Coffin-Lowry syndrome [RCV000170489] ChrX:Xp22.12 pathogenic|likely pathogenic|uncertain significance
NM_004586.3(RPS6KA3):c.455_457GAG[1] (p.Gly153del) microsatellite Mental retardation, X-linked 19 [RCV000022822] ChrX:20194215..20194217 [GRCh38]
ChrX:20212333..20212335 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_004586.3(RPS6KA3):c.343A>T (p.Thr115Ser) single nucleotide variant Mental retardation, X-linked 19 [RCV000022823] ChrX:20195128 [GRCh38]
ChrX:20213246 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_004586.3(RPS6KA3):c.224G>T (p.Gly75Val) single nucleotide variant Coffin-Lowry syndrome [RCV000012417] ChrX:20209307 [GRCh38]
ChrX:20227425 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_004586.3(RPS6KA3):c.679T>G (p.Ser227Ala) single nucleotide variant Coffin-Lowry syndrome [RCV000012418] ChrX:20187923 [GRCh38]
ChrX:20206041 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_004586.3(RPS6KA3):c.244G>T (p.Val82Phe) single nucleotide variant Coffin-Lowry syndrome [RCV000012419] ChrX:20204103 [GRCh38]
ChrX:20222221 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_004586.3(RPS6KA3):c.340C>T (p.Arg114Trp) single nucleotide variant Coffin-Lowry syndrome [RCV000012421] ChrX:20195131 [GRCh38]
ChrX:20213249 [GRCh37]
ChrX:Xp22.12
pathogenic|likely pathogenic
NM_004586.3(RPS6KA3):c.2065C>T (p.Gln689Ter) single nucleotide variant Coffin-Lowry syndrome [RCV000012423] ChrX:20156144 [GRCh38]
ChrX:20174262 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_004586.3(RPS6KA3):c.2186G>A (p.Arg729Gln) single nucleotide variant Coffin-Lowry syndrome [RCV000012424]|Inborn genetic diseases [RCV001266366]|Intellectual disability [RCV001257622]|not provided [RCV000413967] ChrX:20155435 [GRCh38]
ChrX:20173553 [GRCh37]
ChrX:Xp22.12
pathogenic|likely pathogenic
NM_004586.3(RPS6KA3):c.1147C>T (p.Arg383Trp) single nucleotide variant Mental retardation, X-linked 19 [RCV000012425] ChrX:20175244 [GRCh38]
ChrX:20193362 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_004586.3(RPS6KA3):c.566T>A (p.Ile189Lys) single nucleotide variant Coffin-Lowry syndrome [RCV000012426] ChrX:20193514 [GRCh38]
ChrX:20211632 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_004586.3(RPS6KA3):c.803T>C (p.Phe268Ser) single nucleotide variant Coffin-Lowry syndrome [RCV000012432] ChrX:20186338 [GRCh38]
ChrX:20204456 [GRCh37]
ChrX:Xp22.12
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.12(chrX:19624798-20573750)x3 copy number gain See cases [RCV000052384] ChrX:19624798..20573750 [GRCh38]
ChrX:19642916..20591868 [GRCh37]
ChrX:19552837..20501789 [NCBI36]
ChrX:Xp22.12
pathogenic
GRCh38/hg38 Xp22.12(chrX:19878110-20395102)x3 copy number gain See cases [RCV000052385] ChrX:19878110..20395102 [GRCh38]
ChrX:19896228..20413220 [GRCh37]
ChrX:19806149..20323141 [NCBI36]
ChrX:Xp22.12
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10679-21811030)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] ChrX:10679..21811030 [GRCh38]
ChrX:60679..21829148 [GRCh37]
ChrX:679..21739069 [NCBI36]
ChrX:Xp22.33-22.12
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.12(chrX:20253700-20351706)x2 copy number gain See cases [RCV000054161] ChrX:20253700..20351706 [GRCh38]
ChrX:20271818..20369824 [GRCh37]
ChrX:20181739..20279745 [NCBI36]
ChrX:Xp22.12
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_004586.3(RPS6KA3):c.1308C>A (p.Cys436Ter) single nucleotide variant Coffin-Lowry syndrome [RCV000660249] ChrX:20172791 [GRCh38]
ChrX:20190909 [GRCh37]
ChrX:Xp22.12
likely pathogenic
NM_004586.3(RPS6KA3):c.2185C>T (p.Arg729Trp) single nucleotide variant Coffin-Lowry syndrome [RCV000660251]|Mental retardation, X-linked 19 [RCV000714792] ChrX:20155436 [GRCh38]
ChrX:20173554 [GRCh37]
ChrX:Xp22.12
pathogenic|likely pathogenic
NM_004586.3(RPS6KA3):c.764G>A (p.Gly255Asp) single nucleotide variant Coffin-Lowry syndrome [RCV000660246] ChrX:20187838 [GRCh38]
ChrX:20205956 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_004586.3(RPS6KA3):c.894_902del (p.Arg300_Leu302del) deletion Coffin-Lowry syndrome [RCV000660248] ChrX:20177028..20177036 [GRCh38]
ChrX:20195146..20195154 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_004586.3(RPS6KA3):c.328C>T (p.Arg110Ter) single nucleotide variant Coffin-Lowry syndrome [RCV000660244]|Intellectual disability [RCV001257663] ChrX:20195143 [GRCh38]
ChrX:20213261 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_004586.3(RPS6KA3):c.1964del (p.Leu655fs) deletion Coffin-Lowry syndrome [RCV000660250] ChrX:20156245 [GRCh38]
ChrX:20174363 [GRCh37]
ChrX:Xp22.12
likely pathogenic
NM_004586.3(RPS6KA3):c.774+1G>C single nucleotide variant Coffin-Lowry syndrome [RCV000660247] ChrX:20187827 [GRCh38]
ChrX:20205945 [GRCh37]
ChrX:Xp22.12
likely pathogenic
NM_004586.3(RPS6KA3):c.1877C>T (p.Pro626Leu) single nucleotide variant Coffin-Lowry syndrome [RCV000660637] ChrX:20161726 [GRCh38]
ChrX:20179844 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_004586.3(RPS6KA3):c.113T>G (p.Ile38Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000715469]|not specified [RCV000081153] ChrX:20234771 [GRCh38]
ChrX:20252889 [GRCh37]
ChrX:Xp22.12
benign
NM_004586.3(RPS6KA3):c.185del (p.Lys62fs) deletion not provided [RCV000081154] ChrX:20209346 [GRCh38]
ChrX:20227464 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_004586.3(RPS6KA3):c.285G>A (p.Gln95=) single nucleotide variant not specified [RCV000081155] ChrX:20204062 [GRCh38]
ChrX:20222180 [GRCh37]
ChrX:Xp22.12
likely benign
NM_004586.3(RPS6KA3):c.632-1G>C single nucleotide variant Coffin-Lowry syndrome [RCV000760975]|not provided [RCV000081156] ChrX:20187971 [GRCh38]
ChrX:20206089 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_004586.3(RPS6KA3):c.718_721del (p.Val240fs) deletion not provided [RCV000081157] ChrX:20187881..20187884 [GRCh38]
ChrX:20205999..20206002 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_004586.3(RPS6KA3):c.798C>A (p.Leu266=) single nucleotide variant History of neurodevelopmental disorder [RCV000715225]|not specified [RCV000081158] ChrX:20186343 [GRCh38]
ChrX:20204461 [GRCh37]
ChrX:Xp22.12
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_004586.3(RPS6KA3):c.139A>G (p.Ile47Val) single nucleotide variant Coffin-Lowry syndrome [RCV001088612]|not specified [RCV000118191] ChrX:20209392 [GRCh38]
ChrX:20227510 [GRCh37]
ChrX:Xp22.12
benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.2-22.11(chrX:15173626-23952585)x2 copy number gain See cases [RCV000134875] ChrX:15173626..23952585 [GRCh38]
ChrX:15191748..23970702 [GRCh37]
ChrX:15101669..23880623 [NCBI36]
ChrX:Xp22.2-22.11
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.12(chrX:20240043-20795704)x1 copy number loss See cases [RCV000136602] ChrX:20240043..20795704 [GRCh38]
ChrX:20258161..20813822 [GRCh37]
ChrX:20168082..20723743 [NCBI36]
ChrX:Xp22.12
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.12(chrX:20007955-20579523)x2 copy number gain See cases [RCV000137623] ChrX:20007955..20579523 [GRCh38]
ChrX:20026073..20597641 [GRCh37]
ChrX:19935994..20507562 [NCBI36]
ChrX:Xp22.12
uncertain significance
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3 copy number gain See cases [RCV000137383] ChrX:10701..21866242 [GRCh38]
ChrX:60701..21884360 [GRCh37]
ChrX:701..21794281 [NCBI36]
ChrX:Xp22.33-22.12
uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.2-21.2(chrX:12254555-30410580)x1 copy number loss See cases [RCV000138069] ChrX:12254555..30410580 [GRCh38]
ChrX:12272674..30428697 [GRCh37]
ChrX:12182595..30338618 [NCBI36]
ChrX:Xp22.2-21.2
pathogenic|likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.12(chrX:19970925-20240102)x2 copy number gain See cases [RCV000138669] ChrX:19970925..20240102 [GRCh38]
ChrX:19989043..20258220 [GRCh37]
ChrX:19898964..20168141 [NCBI36]
ChrX:Xp22.12
uncertain significance
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.12(chrX:20154969-20217590)x0 copy number loss See cases [RCV000143719] ChrX:20154969..20217590 [GRCh38]
ChrX:20173087..20235708 [GRCh37]
ChrX:20083008..20145629 [NCBI36]
ChrX:Xp22.12
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_004586.3(RPS6KA3):c.213A>G (p.Leu71=) single nucleotide variant Coffin-Lowry syndrome [RCV000865483]|History of neurodevelopmental disorder [RCV000716842]|not specified [RCV000192611] ChrX:20209318 [GRCh38]
ChrX:20227436 [GRCh37]
ChrX:Xp22.12
benign|uncertain significance
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His) single nucleotide variant Coffin-Lowry syndrome [RCV000990499]|History of neurodevelopmental disorder [RCV000721043]|Intellectual disability [RCV001252609]|Mental retardation, X-linked 19 [RCV000193624]|not specified [RCV000595652] ChrX:20155453 [GRCh38]
ChrX:20173571 [GRCh37]
ChrX:Xp22.12
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004586.3(RPS6KA3):c.1989C>T (p.Asp663=) single nucleotide variant Coffin-Lowry syndrome [RCV000870515]|History of neurodevelopmental disorder [RCV000719049]|not specified [RCV000194230] ChrX:20156220 [GRCh38]
ChrX:20174338 [GRCh37]
ChrX:Xp22.12
benign|likely benign
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004586.3(RPS6KA3):c.1304_1307del (p.Val435fs) deletion Mental retardation, X-linked 19 [RCV000193195] ChrX:20172792..20172795 [GRCh38]
ChrX:20190910..20190913 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_004586.3(RPS6KA3):c.632-3C>T single nucleotide variant not specified [RCV000194314] ChrX:20187973 [GRCh38]
ChrX:20206091 [GRCh37]
ChrX:Xp22.12
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.12(chrX:20179739-20938979)x1 copy number loss See cases [RCV000258812] ChrX:20179739..20938979 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_004586.3(RPS6KA3):c.913C>T (p.Arg305Ter) single nucleotide variant Coffin-Lowry syndrome [RCV000210889]|Coffin-Lowry syndrome [RCV000760245] ChrX:20177017 [GRCh38]
ChrX:20195135 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_004586.3(RPS6KA3):c.629C>T (p.Thr210Ile) single nucleotide variant Coffin-Lowry syndrome [RCV000677731] ChrX:20188499 [GRCh38]
ChrX:20206617 [GRCh37]
ChrX:Xp22.12
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004586.3(RPS6KA3):c.646A>G (p.Lys216Glu) single nucleotide variant Coffin-Lowry syndrome [RCV000625970] ChrX:20187956 [GRCh38]
ChrX:20206074 [GRCh37]
ChrX:Xp22.12
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004586.3(RPS6KA3):c.603_605TGA[1] (p.Asp202del) microsatellite not provided [RCV000330683] ChrX:20188520..20188522 [GRCh38]
ChrX:20206638..20206640 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_004586.3(RPS6KA3):c.1934G>A (p.Trp645Ter) single nucleotide variant not provided [RCV000343124] ChrX:20161669 [GRCh38]
ChrX:20179787 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_004586.3(RPS6KA3):c.632A>G (p.Asp211Gly) single nucleotide variant not provided [RCV000319579] ChrX:20187970 [GRCh38]
ChrX:20206088 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_004586.3(RPS6KA3):c.205G>T (p.Glu69Ter) single nucleotide variant not provided [RCV000375901] ChrX:20209326 [GRCh38]
ChrX:20227444 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_004586.3(RPS6KA3):c.1884A>T (p.Glu628Asp) single nucleotide variant not specified [RCV000366614] ChrX:20161719 [GRCh38]
ChrX:20179837 [GRCh37]
ChrX:Xp22.12
likely benign
NM_004586.3(RPS6KA3):c.1539_1542del (p.Glu515fs) deletion not provided [RCV000261508] ChrX:20167649..20167652 [GRCh38]
ChrX:20185767..20185770 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_004586.3(RPS6KA3):c.1968G>A (p.Val656=) single nucleotide variant not provided [RCV000407874] ChrX:20156241 [GRCh38]
ChrX:20174359 [GRCh37]
ChrX:Xp22.12
uncertain significance
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_004586.3(RPS6KA3):c.1894C>T (p.Arg632Ter) single nucleotide variant Coffin-Lowry syndrome [RCV001249648]|not provided [RCV000489984] ChrX:20161709 [GRCh38]
ChrX:20179827 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_004586.3(RPS6KA3):c.632-1G>A single nucleotide variant not provided [RCV000591628] ChrX:20187971 [GRCh38]
ChrX:20206089 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_004586.3(RPS6KA3):c.1237A>G (p.Arg413Gly) single nucleotide variant Coffin-Lowry syndrome [RCV000764872]|not provided [RCV000591676] ChrX:20172862 [GRCh38]
ChrX:20190980 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_004586.3(RPS6KA3):c.608_610AAG[1] (p.Glu204del) microsatellite not provided [RCV000598903] ChrX:20188515..20188517 [GRCh38]
ChrX:20206633..20206635 [GRCh37]
ChrX:Xp22.12
likely pathogenic
NM_004586.3(RPS6KA3):c.593+2_593+5del deletion not provided [RCV000598914] ChrX:20193482..20193485 [GRCh38]
ChrX:20211600..20211603 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_004586.3(RPS6KA3):c.1463_1464del (p.Tyr488fs) deletion not provided [RCV000627423] ChrX:20167727..20167728 [GRCh38]
ChrX:20185845..20185846 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_004586.3(RPS6KA3):c.356G>C (p.Arg119Pro) single nucleotide variant not provided [RCV000414595] ChrX:20195115 [GRCh38]
ChrX:20213233 [GRCh37]
ChrX:Xp22.12
likely pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_004586.3(RPS6KA3):c.122A>G (p.Gln41Arg) single nucleotide variant not provided [RCV000415809] ChrX:20234762 [GRCh38]
ChrX:20252880 [GRCh37]
ChrX:Xp22.12
uncer