UBA1 (ubiquitin like modifier activating enzyme 1) - Rat Genome Database

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Gene: UBA1 (ubiquitin like modifier activating enzyme 1) Homo sapiens
Analyze
Symbol: UBA1
Name: ubiquitin like modifier activating enzyme 1
RGD ID: 1604847
HGNC Page HGNC
Description: Exhibits ubiquitin activating enzyme activity. Involved in cellular response to DNA damage stimulus. Localizes to mitochondrion and nucleoplasm. Colocalizes with bounding membrane of organelle; desmosome; and heterochromatin. Implicated in VEXAS syndrome and X-linked spinal muscular atrophy 2.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: A1S9; A1S9T; A1S9T and BN75 temperature sensitivity complementing; A1ST; AMCX1; CFAP124; GXP1; MGC4781; POC20; POC20 centriolar protein homolog; SMAX2; testicular secretory protein Li 63; UBA1, ubiquitin-activating enzyme E1 homolog A; UBA1A; UBE1; UBE1X; ubiquitin-like modifier activating enzyme 1; ubiquitin-like modifier-activating enzyme 1; VEXAS
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 EnsemblX47,190,861 - 47,215,128 (+)EnsemblGRCh38hg38GRCh38
GRCh38X47,190,847 - 47,215,128 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X47,050,246 - 47,074,527 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X46,935,204 - 46,959,471 (+)NCBINCBI36hg18NCBI36
CeleraX51,245,489 - 51,269,819 (+)NCBI
Cytogenetic MapXp11.3NCBI
HuRefX44,761,319 - 44,784,789 (+)NCBIHuRef
CHM1_1X47,081,686 - 47,106,022 (+)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-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
2,2,2-tetramine  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,5-hexanedione  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4-hydroxynon-2-enal  (EXP)
4-phenylbutyric acid  (ISO)
aflatoxin B1  (EXP)
Aroclor 1254  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
arsenous acid  (EXP)
benomyl  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (ISO)
bisphenol F  (EXP)
cadmium dichloride  (EXP)
caffeine  (EXP)
carbon nanotube  (ISO)
cobalt dichloride  (EXP)
copper(II) chloride  (EXP)
CU-O LINKAGE  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
diethyldithiocarbamic acid  (EXP,ISO)
dimethyldithiocarbamate  (EXP)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
furan  (ISO)
glafenine  (ISO)
indometacin  (EXP)
lead(0)  (ISO)
lead(2+)  (ISO)
lead(II) chloride  (ISO)
maneb  (EXP)
manganese(II) chloride  (EXP)
metam  (EXP)
methamphetamine  (ISO)
methotrexate  (EXP)
methylmercury chloride  (ISO)
molinate  (EXP)
N-nitrosodiethylamine  (ISO)
ochratoxin A  (EXP)
PhIP  (ISO)
potassium dichromate  (EXP)
prostaglandin A1  (ISO)
pyrrolidine dithiocarbamate  (EXP)
quercetin  (EXP)
rotenone  (ISO)
selenium atom  (EXP)
silicon dioxide  (EXP)
SKF 38393  (ISO)
sodium arsenite  (ISO)
streptozocin  (ISO)
theophylline  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
topotecan  (EXP)
Tributyltin oxide  (ISO)
trimellitic anhydride  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
vitamin E  (EXP)
zinc atom  (EXP)
zinc dichloride  (EXP)
zinc(0)  (EXP)
ziram  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

Human Phenotype
Abnormal fingernail morphology  (IAGP)
Abnormality of metabolism/homeostasis  (IAGP)
Adducted thumb  (IAGP)
Areflexia  (IAGP)
Arteritis  (IAGP)
Arthralgia  (IAGP)
Arthritis  (IAGP)
Arthrogryposis multiplex congenita  (IAGP)
Autoimmune antibody positivity  (IAGP)
Autosomal dominant somatic cell mutation  (IAGP)
Bilateral single transverse palmar creases  (IAGP)
Camptodactyly of finger  (IAGP)
Chondritis of pinna  (IAGP)
Cognitive impairment  (IAGP)
Cryptorchidism  (IAGP)
Decreased fetal movement  (IAGP)
Deep venous thrombosis  (IAGP)
Degeneration of anterior horn cells  (IAGP)
Dolichocephaly  (IAGP)
Elevated C-reactive protein level  (IAGP)
Elevated erythrocyte sedimentation rate  (IAGP)
Erythroid dysplasia  (IAGP)
Facial palsy  (IAGP)
Failure to thrive in infancy  (IAGP)
Fatigue  (IAGP)
Gait disturbance  (IAGP)
Hypoplasia of penis  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Inguinal hernia  (IAGP)
Joint stiffness  (IAGP)
Kyphosis  (IAGP)
Long philtrum  (IAGP)
Macrocytic anemia  (IAGP)
Macrotia  (IAGP)
Megakaryocyte dysplasia  (IAGP)
Micrognathia  (IAGP)
Micropenis  (IAGP)
Middle age onset  (IAGP)
Multiple joint contractures  (IAGP)
Myelodysplasia  (IAGP)
Myopathic facies  (IAGP)
Myopathy  (IAGP)
Narrow chest  (IAGP)
Nasal chondritis  (IAGP)
Neutrophilic infiltration of the skin  (IAGP)
Night sweats  (IAGP)
Open mouth  (IAGP)
Proximal placement of thumb  (IAGP)
Ptosis  (IAGP)
Pulmonary infiltrates  (IAGP)
Recurrent fever  (IAGP)
Respiratory insufficiency  (IAGP)
Respiratory insufficiency due to muscle weakness  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe muscular hypotonia  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Skin dimple  (IAGP)
Skin plaque  (IAGP)
Spinal muscular atrophy  (IAGP)
Strabismus  (IAGP)
Thickened nuchal skin fold  (IAGP)
Thrombocytopenia  (IAGP)
Thromboembolism  (IAGP)
Tongue fasciculations  (IAGP)
Wide intermamillary distance  (IAGP)
Wide nasal bridge  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:1376922   PMID:1544321   PMID:1606621   PMID:1845793   PMID:1871145   PMID:1986373   PMID:2265617   PMID:2323223   PMID:2390975   PMID:2842867   PMID:3390177   PMID:7673335  
PMID:7724583   PMID:8125920   PMID:8573590   PMID:8576257   PMID:8663123   PMID:9153201   PMID:9467000   PMID:9857030   PMID:11447495   PMID:11807090   PMID:11846513   PMID:12477932  
PMID:12629039   PMID:12883554   PMID:14517261   PMID:14702039   PMID:14733918   PMID:14744259   PMID:15202508   PMID:15247261   PMID:15302935   PMID:15489334   PMID:15592455   PMID:16169070  
PMID:16227972   PMID:16263121   PMID:16428300   PMID:16595681   PMID:16712842   PMID:16713569   PMID:16964243   PMID:17060614   PMID:17550899   PMID:17597759   PMID:17956732   PMID:17980597  
PMID:18029348   PMID:18179898   PMID:18661401   PMID:18678647   PMID:19019082   PMID:19056867   PMID:19135240   PMID:19199708   PMID:19250909   PMID:19490893   PMID:19723899   PMID:20004025  
PMID:20301739   PMID:20360068   PMID:20458337   PMID:20653130   PMID:21041297   PMID:21081666   PMID:21145461   PMID:21319273   PMID:21630459   PMID:21685362   PMID:21873635   PMID:21900206  
PMID:21988832   PMID:22069333   PMID:22145905   PMID:22190034   PMID:22279528   PMID:22350887   PMID:22370482   PMID:22427669   PMID:22434192   PMID:22456334   PMID:22658674   PMID:22681889  
PMID:22797925   PMID:22863883   PMID:22939629   PMID:22999844   PMID:23003343   PMID:23349634   PMID:23376485   PMID:23524849   PMID:23533145   PMID:23824909   PMID:23862649   PMID:24075985  
PMID:24399297   PMID:24711643   PMID:24743594   PMID:24816100   PMID:24912152   PMID:25026213   PMID:25138535   PMID:25147182   PMID:25192599   PMID:25207809   PMID:25209502   PMID:25275296  
PMID:25515538   PMID:25527291   PMID:25737280   PMID:25756610   PMID:25768649   PMID:25882842   PMID:25921289   PMID:26288249   PMID:26296656   PMID:26344197   PMID:26432019   PMID:26485645  
PMID:26496610   PMID:26508657   PMID:26514267   PMID:26618866   PMID:26638075   PMID:26641092   PMID:26752685   PMID:26777405   PMID:26831064   PMID:26972000   PMID:27173435   PMID:27182664  
PMID:27248496   PMID:27297094   PMID:27342126   PMID:27371349   PMID:27425610   PMID:27462432   PMID:27880917   PMID:28134249   PMID:28190767   PMID:28302793   PMID:28330616   PMID:28366632  
PMID:28514442   PMID:28515276   PMID:28581483   PMID:28924046   PMID:29034082   PMID:29128334   PMID:29229926   PMID:29263404   PMID:29326975   PMID:29467282   PMID:29507755   PMID:29509190  
PMID:29537486   PMID:29643511   PMID:29791485   PMID:29845934   PMID:29859926   PMID:29871923   PMID:29991511   PMID:30097011   PMID:30196744   PMID:30246024   PMID:30279270   PMID:30336976  
PMID:30340022   PMID:30425250   PMID:30455355   PMID:30587574   PMID:30631154   PMID:30686098   PMID:30711629   PMID:30770245   PMID:30809309   PMID:30890647   PMID:30948266   PMID:31067491  
PMID:31091453   PMID:31157974   PMID:31230944   PMID:31299612   PMID:31300519   PMID:31405213   PMID:31417184   PMID:31501420   PMID:31518855   PMID:31536960   PMID:31586073   PMID:31638574  
PMID:31700050   PMID:31873223   PMID:31887036   PMID:31980649   PMID:31995728   PMID:32129710   PMID:32203420   PMID:32249768   PMID:32315024   PMID:32416067   PMID:32457219   PMID:32529326  
PMID:32694731   PMID:32786267   PMID:32814053   PMID:33108101   PMID:33355669  


Genomics

Comparative Map Data
UBA1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX47,190,861 - 47,215,128 (+)EnsemblGRCh38hg38GRCh38
GRCh38X47,190,847 - 47,215,128 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X47,050,246 - 47,074,527 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X46,935,204 - 46,959,471 (+)NCBINCBI36hg18NCBI36
CeleraX51,245,489 - 51,269,819 (+)NCBI
Cytogenetic MapXp11.3NCBI
HuRefX44,761,319 - 44,784,789 (+)NCBIHuRef
CHM1_1X47,081,686 - 47,106,022 (+)NCBICHM1_1
Uba1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X20,524,541 - 20,549,418 (+)NCBIGRCm39mm39
GRCm39 EnsemblX20,524,565 - 20,549,418 (+)Ensembl
GRCm38X20,658,302 - 20,683,179 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX20,658,326 - 20,683,179 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X20,235,547 - 20,260,305 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X19,815,380 - 19,840,138 (+)NCBImm8
CeleraX18,792,750 - 18,813,110 (+)NCBICelera
Cytogenetic MapXA1.3NCBI
cM MapX16.15NCBI
Uba1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X1,508,700 - 1,530,677 (-)NCBI
Rnor_6.0 EnsemblX1,723,174 - 1,741,701 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X1,723,135 - 1,745,147 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X2,516,602 - 2,538,602 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X12,926,049 - 12,944,522 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X12,931,605 - 12,950,078 (-)NCBI
CeleraX2,072,832 - 2,091,181 (-)NCBICelera
Cytogenetic MapXq11NCBI
Uba1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955516876,354 - 891,206 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955516876,542 - 898,763 (-)NCBIChiLan1.0ChiLan1.0
UBA1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X47,485,374 - 47,509,654 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX47,493,331 - 47,509,654 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X39,627,753 - 39,652,023 (+)NCBIMhudiblu_PPA_v0panPan3
UBA1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X40,784,240 - 40,807,072 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX40,783,809 - 40,807,069 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX15,159,372 - 15,182,235 (+)NCBI
ROS_Cfam_1.0X40,918,209 - 40,941,099 (+)NCBI
UMICH_Zoey_3.1X40,905,897 - 40,928,783 (+)NCBI
UNSW_CanFamBas_1.0X40,893,780 - 40,916,640 (+)NCBI
UU_Cfam_GSD_1.0X40,986,880 - 41,009,744 (+)NCBI
Uba1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X33,120,490 - 33,143,491 (+)NCBI
SpeTri2.0NW_00493650212,961,236 - 12,984,235 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
UBA1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX41,814,101 - 41,832,812 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X41,810,726 - 41,832,818 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X46,779,768 - 46,793,857 (-)NCBISscrofa10.2Sscrofa10.2susScr3
UBA1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X44,377,765 - 44,402,378 (+)NCBI
ChlSab1.1 EnsemblX44,385,940 - 44,405,051 (+)Ensembl
Uba1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248873,961,699 - 3,983,772 (+)NCBI

Position Markers
WI-18308  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,063,591 - 47,063,716UniSTSGRCh37
Build 36X46,948,535 - 46,948,660RGDNCBI36
CeleraX51,258,881 - 51,259,006RGD
Cytogenetic MapXp11.23UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
GeneMap99-GB4 RH MapX137.29UniSTS
Whitehead-RH MapX53.5UniSTS
NCBI RH MapX169.7UniSTS
AL032564  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,069,675 - 47,069,796UniSTSGRCh37
Build 36X46,954,619 - 46,954,740RGDNCBI36
CeleraX51,264,967 - 51,265,088RGD
Cytogenetic MapXp11.23UniSTS
HuRefX44,779,937 - 44,780,058UniSTS
AL031251  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,072,290 - 47,072,461UniSTSGRCh37
Build 36X46,957,234 - 46,957,405RGDNCBI36
CeleraX51,267,582 - 51,267,753RGD
Cytogenetic MapXp11.23UniSTS
HuRefX44,782,552 - 44,782,723UniSTS
RH18112  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,074,201 - 47,074,324UniSTSGRCh37
Build 36X46,959,145 - 46,959,268RGDNCBI36
CeleraX51,269,493 - 51,269,616RGD
Cytogenetic MapXp11.23UniSTS
HuRefX44,784,463 - 44,784,586UniSTS
GeneMap99-GB4 RH MapX138.25UniSTS
NCBI RH MapX165.2UniSTS
INE1_8829  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,064,460 - 47,065,359UniSTSGRCh37
Build 36X46,949,404 - 46,950,303RGDNCBI36
CeleraX51,259,750 - 51,260,649RGD
HuRefX44,774,822 - 44,775,721UniSTS
DXS6974E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,064,792 - 47,064,979UniSTSGRCh37
Build 36X46,949,736 - 46,949,923RGDNCBI36
CeleraX51,260,082 - 51,260,269RGD
Cytogenetic MapXp11.23UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
HuRefX44,775,154 - 44,775,341UniSTS
GeneMap99-GB4 RH MapX137.29UniSTS
RH48434  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,061,597 - 47,061,821UniSTSGRCh37
Build 36X46,946,541 - 46,946,765RGDNCBI36
CeleraX51,256,887 - 51,257,111RGD
Cytogenetic MapXp11.23UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
HuRefX44,772,716 - 44,772,940UniSTS
GeneMap99-GB4 RH MapX137.29UniSTS
MARC_4929-4930:991938967:3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,073,746 - 47,074,329UniSTSGRCh37
Build 36X46,958,690 - 46,959,273RGDNCBI36
CeleraX51,269,038 - 51,269,621RGD
HuRefX44,784,008 - 44,784,591UniSTS
UniSTS:484337  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,064,435 - 47,064,851UniSTSGRCh37
Build 36X46,949,379 - 46,949,795RGDNCBI36
CeleraX51,259,725 - 51,260,141RGD
HuRefX44,774,797 - 44,775,213UniSTS
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
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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
G42694  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp11.23UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2663
Count of miRNA genes:859
Interacting mature miRNAs:1008
Transcripts:ENST00000335972, ENST00000377269, ENST00000377351, ENST00000412206, ENST00000427561, ENST00000442035, ENST00000451702, ENST00000457753, ENST00000490869
Prediction methods:Microtar, Miranda, Pita, Pita,Microtar, 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 1 1 20
Medium 2432 2934 1718 617 1937 459 4355 2154 3684 417 1429 1608 171 1204 2788 4
Low 7 57 8 7 14 6 1 42 50 1 11 5 4 1 2 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_153280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF258566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ003111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL513366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG703038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI547207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M58028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X52897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X56976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000335972   ⟹   ENSP00000338413
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,193,829 - 47,215,128 (+)Ensembl
RefSeq Acc Id: ENST00000377269   ⟹   ENSP00000366481
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,208,562 - 47,215,126 (+)Ensembl
RefSeq Acc Id: ENST00000377351   ⟹   ENSP00000366568
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,190,861 - 47,215,128 (+)Ensembl
RefSeq Acc Id: ENST00000412206   ⟹   ENSP00000415033
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,191,399 - 47,201,611 (+)Ensembl
RefSeq Acc Id: ENST00000427561   ⟹   ENSP00000397816
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,191,423 - 47,199,613 (+)Ensembl
RefSeq Acc Id: ENST00000442035   ⟹   ENSP00000389583
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,193,829 - 47,201,610 (+)Ensembl
RefSeq Acc Id: ENST00000451702   ⟹   ENSP00000401101
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,197,199 - 47,200,962 (+)Ensembl
RefSeq Acc Id: ENST00000457753   ⟹   ENSP00000404796
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,193,837 - 47,199,566 (+)Ensembl
RefSeq Acc Id: ENST00000490869
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,202,693 - 47,206,664 (+)Ensembl
RefSeq Acc Id: NM_003334   ⟹   NP_003325
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,193,829 - 47,215,128 (+)NCBI
GRCh37X47,050,199 - 47,074,527 (+)ENTREZGENE
GRCh37X47,050,199 - 47,074,527 (+)NCBI
Build 36X46,938,239 - 46,959,470 (+)NCBI Archive
HuRefX44,761,319 - 44,784,789 (+)ENTREZGENE
CHM1_1X47,084,688 - 47,106,022 (+)NCBI
Sequence:
RefSeq Acc Id: NM_153280   ⟹   NP_695012
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,190,847 - 47,215,128 (+)NCBI
GRCh37X47,050,199 - 47,074,527 (+)ENTREZGENE
GRCh37X47,050,199 - 47,074,527 (+)NCBI
Build 36X46,935,204 - 46,959,471 (+)NCBI Archive
HuRefX44,761,319 - 44,784,789 (+)ENTREZGENE
CHM1_1X47,081,686 - 47,106,022 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005272649   ⟹   XP_005272706
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,193,502 - 47,215,128 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011543954   ⟹   XP_011542256
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,193,829 - 47,215,128 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029777   ⟹   XP_016885266
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,197,038 - 47,215,128 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029778   ⟹   XP_016885267
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,194,094 - 47,215,128 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029779   ⟹   XP_016885268
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,194,094 - 47,215,128 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029780   ⟹   XP_016885269
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,196,362 - 47,215,128 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029781   ⟹   XP_016885270
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,198,473 - 47,215,128 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_695012   ⟸   NM_153280
- UniProtKB: P22314 (UniProtKB/Swiss-Prot),   A0A024R1A3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_003325   ⟸   NM_003334
- UniProtKB: P22314 (UniProtKB/Swiss-Prot),   A0A024R1A3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005272706   ⟸   XM_005272649
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011542256   ⟸   XM_011543954
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016885268   ⟸   XM_017029779
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016885267   ⟸   XM_017029778
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016885269   ⟸   XM_017029780
- Peptide Label: isoform X5
- UniProtKB: P22314 (UniProtKB/Swiss-Prot),   A0A024R1A3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885266   ⟸   XM_017029777
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016885270   ⟸   XM_017029781
- Peptide Label: isoform X5
- UniProtKB: P22314 (UniProtKB/Swiss-Prot),   A0A024R1A3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000401101   ⟸   ENST00000451702
RefSeq Acc Id: ENSP00000415033   ⟸   ENST00000412206
RefSeq Acc Id: ENSP00000397816   ⟸   ENST00000427561
RefSeq Acc Id: ENSP00000338413   ⟸   ENST00000335972
RefSeq Acc Id: ENSP00000366481   ⟸   ENST00000377269
RefSeq Acc Id: ENSP00000366568   ⟸   ENST00000377351
RefSeq Acc Id: ENSP00000389583   ⟸   ENST00000442035
RefSeq Acc Id: ENSP00000404796   ⟸   ENST00000457753
Protein Domains
E1_FCCH   ThiF   UBA_e1_C

Promoters
RGD ID:6809349
Promoter ID:HG_KWN:66584
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_153280,   OTTHUMT00000056392,   OTTHUMT00000056393
Position:
Human AssemblyChrPosition (strand)Source
Build 36X46,935,121 - 46,936,042 (+)MPROMDB
RGD ID:6809347
Promoter ID:HG_KWN:66585
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_003334,   OTTHUMT00000056394,   OTTHUMT00000056395
Position:
Human AssemblyChrPosition (strand)Source
Build 36X46,937,516 - 46,938,252 (+)MPROMDB
RGD ID:6852642
Promoter ID:EP74133
Type:initiation region
Name:HS_UBE1
Description:Ubiquitin-activating enzyme E1 (A1S9T and BN75 temperaturesensitivity complementing).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36X46,938,048 - 46,938,108EPD
RGD ID:6808721
Promoter ID:HG_KWN:66586
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000377271,   OTTHUMT00000056396
Position:
Human AssemblyChrPosition (strand)Source
Build 36X46,940,606 - 46,942,692 (+)MPROMDB
RGD ID:6814846
Promoter ID:HG_XEF:8586
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Lymphoblastoid
Transcripts:NM_001038316,   NM_001040127,   NM_001082371,   NM_001086716,   NM_001135028,   NM_001179775,   NM_001184913,   NM_011667,   NM_057962,   NM_211335,   NM_213062
Position:
Human AssemblyChrPosition (strand)Source
Build 36X46,943,291 - 46,943,791 (+)MPROMDB
RGD ID:6809350
Promoter ID:HG_KWN:66587
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000056397
Position:
Human AssemblyChrPosition (strand)Source
Build 36X46,946,071 - 46,947,517 (+)MPROMDB
RGD ID:6809351
Promoter ID:HG_KWN:66589
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Jurkat,   Lymphoblastoid
Transcripts:UC004DHM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X46,952,051 - 46,953,997 (+)MPROMDB
RGD ID:13605152
Promoter ID:EPDNEW_H28759
Type:initiation region
Name:UBA1_2
Description:ubiquitin like modifier activating enzyme 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28761  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,190,847 - 47,190,907EPDNEW
RGD ID:13605150
Promoter ID:EPDNEW_H28760
Type:multiple initiation site
Name:UBE1_1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,193,705 - 47,193,765EPDNEW
RGD ID:13605154
Promoter ID:EPDNEW_H28761
Type:initiation region
Name:UBA1_1
Description:ubiquitin like modifier activating enzyme 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28759  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,193,829 - 47,193,889EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003334.4(UBA1):c.574C>A (p.Arg192=) single nucleotide variant not provided [RCV000548126] ChrX:47200987 [GRCh38]
ChrX:47060386 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.2464+6_2464+9del deletion Spinal muscular atrophy, X-linked 2 [RCV000640815] ChrX:47211230..47211233 [GRCh38]
ChrX:47070629..47070632 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.2094G>A (p.Gln698=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000640821] ChrX:47210018 [GRCh38]
ChrX:47069417 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.1420-8C>T single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000552081] ChrX:47203533 [GRCh38]
ChrX:47062932 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.2351G>A (p.Arg784Gln) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000640822]|not specified [RCV000602980] ChrX:47211112 [GRCh38]
ChrX:47070511 [GRCh37]
ChrX:Xp11.3
benign
NM_003334.4(UBA1):c.1853A>G (p.Tyr618Cys) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000557966] ChrX:47206359 [GRCh38]
ChrX:47065758 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.1401C>G (p.Gly467=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000544070] ChrX:47203196 [GRCh38]
ChrX:47062595 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.1617G>T (p.Met539Ile) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000010434] ChrX:47205989 [GRCh38]
ChrX:47065388 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_003334.4(UBA1):c.1639A>G (p.Ser547Gly) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000010435] ChrX:47206011 [GRCh38]
ChrX:47065410 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_003334.4(UBA1):c.1731C>T (p.Asn577=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000010436] ChrX:47206103 [GRCh38]
ChrX:47065502 [GRCh37]
ChrX:Xp11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 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-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 Xp11.4-11.23(chrX:41434043-47880733)x1 copy number loss See cases [RCV000053088] ChrX:41434043..47880733 [GRCh38]
ChrX:41293296..47619970 [GRCh37]
ChrX:41178240..47625076 [NCBI36]
ChrX:Xp11.4-11.23
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 Xp22.33-11.1(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-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 Xp22.33-11.22(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
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_003334.4(UBA1):c.741T>G (p.Phe247Leu) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001312513] ChrX:47201540 [GRCh38]
ChrX:47060939 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.1150C>T (p.Arg384Trp) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001303078] ChrX:47202731 [GRCh38]
ChrX:47062130 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.2575A>G (p.Met859Val) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001312347] ChrX:47212792 [GRCh38]
ChrX:47072191 [GRCh37]
ChrX:Xp11.3
uncertain significance
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: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-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 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(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-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 Xp11.3-11.22(chrX:43361870-50931794)x3 copy number gain See cases [RCV000134956] ChrX:43361870..50931794 [GRCh38]
ChrX:43221119..50674794 [GRCh37]
ChrX:43106063..50691534 [NCBI36]
ChrX:Xp11.3-11.22
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 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 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 Xp22.33-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 Xp22.33-11.23(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 Xp11.3-11.23(chrX:44765664-49343053)x3 copy number gain See cases [RCV000137271] ChrX:44765664..49343053 [GRCh38]
ChrX:44624910..49218180 [GRCh37]
ChrX:44509854..49105124 [NCBI36]
ChrX:Xp11.3-11.23
likely 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 Xp22.33-11.1(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 Xp11.3(chrX:46464096-47419599)x2 copy number gain See cases [RCV000139661] ChrX:46464096..47419599 [GRCh38]
ChrX:46323531..47278998 [GRCh37]
ChrX:46208475..47163942 [NCBI36]
ChrX:Xp11.3
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 Xp11.3-11.22(chrX:46971389-54130971)x3 copy number gain See cases [RCV000141567] ChrX:46971389..54130971 [GRCh38]
ChrX:46818746..53957191 [GRCh37]
ChrX:46703690..54174129 [NCBI36]
ChrX:Xp11.3-11.22
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 Xp11.3-11.23(chrX:44632305-47607180)x2 copy number gain See cases [RCV000143089] ChrX:44632305..47607180 [GRCh38]
ChrX:44491551..47466579 [GRCh37]
ChrX:44376495..47351523 [NCBI36]
ChrX:Xp11.3-11.23
likely 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 Xp22.33-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
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:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
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
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
NM_003334.4(UBA1):c.2595A>G (p.Ala865=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000559011]|not specified [RCV000603398] ChrX:47212812 [GRCh38]
ChrX:47072211 [GRCh37]
ChrX:Xp11.3
benign
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003334.4(UBA1):c.423T>C (p.Tyr141=) single nucleotide variant not specified [RCV000599771] ChrX:47199557 [GRCh38]
ChrX:47058956 [GRCh37]
ChrX:Xp11.3
likely benign
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:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [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:71267-155224766)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 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
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:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003334.4(UBA1):c.2839-7C>T single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000261437] ChrX:47214320 [GRCh38]
ChrX:47073719 [GRCh37]
ChrX:Xp11.3
benign|uncertain significance
NM_003334.4(UBA1):c.430G>A (p.Val144Ile) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000357217] ChrX:47199564 [GRCh38]
ChrX:47058963 [GRCh37]
ChrX:Xp11.3
benign|likely benign
NM_003334.4(UBA1):c.1543C>A (p.Arg515=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000392406] ChrX:47203664 [GRCh38]
ChrX:47063063 [GRCh37]
ChrX:Xp11.3
benign|uncertain significance
NM_003334.4(UBA1):c.1742-11G>C single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000344795]|not specified [RCV000424315] ChrX:47206237 [GRCh38]
ChrX:47065636 [GRCh37]
ChrX:Xp11.3
benign
NM_003334.4(UBA1):c.2928C>T (p.Leu976=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000314272] ChrX:47214416 [GRCh38]
ChrX:47073815 [GRCh37]
ChrX:Xp11.3
benign|likely benign
NM_003334.4(UBA1):c.811+9C>G single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000317636]|not provided [RCV000714143]|not specified [RCV000418622] ChrX:47201619 [GRCh38]
ChrX:47061018 [GRCh37]
ChrX:Xp11.3
benign
NM_003334.4(UBA1):c.*123C>T single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000370928] ChrX:47215052 [GRCh38]
ChrX:47074451 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.351C>T (p.Tyr117=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000320895] ChrX:47199485 [GRCh38]
ChrX:47058884 [GRCh37]
ChrX:Xp11.3
benign|likely benign
NM_003334.4(UBA1):c.909+12G>A single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000372246] ChrX:47202265 [GRCh38]
ChrX:47061664 [GRCh37]
ChrX:Xp11.3
benign|likely benign
NM_003334.4(UBA1):c.1702C>G (p.Leu568Val) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000287440]|not specified [RCV000610331] ChrX:47206074 [GRCh38]
ChrX:47065473 [GRCh37]
ChrX:Xp11.3
benign
NM_003334.4(UBA1):c.2838+8C>T single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000353809] ChrX:47213189 [GRCh38]
ChrX:47072588 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.1242C>T (p.Ser414=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000332834]|not specified [RCV000616537] ChrX:47202951 [GRCh38]
ChrX:47062350 [GRCh37]
ChrX:Xp11.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_003334.4(UBA1):c.1340G>A (p.Arg447His) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000293475]|not specified [RCV000428872] ChrX:47203135 [GRCh38]
ChrX:47062534 [GRCh37]
ChrX:Xp11.3
benign
NM_003334.4(UBA1):c.2004-13C>T single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000392412] ChrX:47209915 [GRCh38]
ChrX:47069314 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.1137C>T (p.Asp379=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000296556]|not specified [RCV000434808] ChrX:47202718 [GRCh38]
ChrX:47062117 [GRCh37]
ChrX:Xp11.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_003334.4(UBA1):c.2308A>C (p.Asn770His) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000341212]|not provided [RCV000714142] ChrX:47211069 [GRCh38]
ChrX:47070468 [GRCh37]
ChrX:Xp11.3
benign|likely benign
NM_003334.4(UBA1):c.720C>T (p.His240=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000262304]|not provided [RCV000951391] ChrX:47201519 [GRCh38]
ChrX:47060918 [GRCh37]
ChrX:Xp11.3
benign|likely benign
NM_003334.4(UBA1):c.1296C>T (p.Leu432=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000387393]|not specified [RCV000608875] ChrX:47203005 [GRCh38]
ChrX:47062404 [GRCh37]
ChrX:Xp11.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_003334.4(UBA1):c.2838+7del deletion Spinal muscular atrophy, X-linked 2 [RCV000301252] ChrX:47213184 [GRCh38]
ChrX:47072583 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.1486G>A (p.Glu496Lys) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000346007]|not provided [RCV000523614] ChrX:47203607 [GRCh38]
ChrX:47063006 [GRCh37]
ChrX:Xp11.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003334.4(UBA1):c.2364C>T (p.Ala788=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000404330]|not specified [RCV000433590] ChrX:47211125 [GRCh38]
ChrX:47070524 [GRCh37]
ChrX:Xp11.3
benign|likely benign
NM_003334.4(UBA1):c.-178G>A single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000265712] ChrX:47193847 [GRCh38]
ChrX:47053246 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.2220G>A (p.Pro740=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000302595]|not specified [RCV000430649] ChrX:47210862 [GRCh38]
ChrX:47070261 [GRCh37]
ChrX:Xp11.3
benign
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_003334.4(UBA1):c.842C>T (p.Ser281Phe) single nucleotide variant not provided [RCV000488993] ChrX:47202186 [GRCh38]
ChrX:47061585 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_153280.2(UBA1):c.*203C>T single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000356987] ChrX:47215132 [GRCh38]
ChrX:47074531 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.2941-14C>T single nucleotide variant not specified [RCV000599871] ChrX:47214523 [GRCh38]
ChrX:47073922 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.442A>G (p.Thr148Ala) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000640816] ChrX:47199576 [GRCh38]
ChrX:47058975 [GRCh37]
ChrX:Xp11.3
benign
NM_003334.4(UBA1):c.878G>A (p.Ser293Asn) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000700483]|not provided [RCV000593311] ChrX:47202222 [GRCh38]
ChrX:47061621 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.2003+12G>A single nucleotide variant not specified [RCV000599645] ChrX:47209699 [GRCh38]
ChrX:47069098 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.1404G>T (p.Lys468Asn) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000640814] ChrX:47203199 [GRCh38]
ChrX:47062598 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.1638A>G (p.Thr546=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000640817] ChrX:47206010 [GRCh38]
ChrX:47065409 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.2793G>A (p.Leu931=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000640818] ChrX:47213136 [GRCh38]
ChrX:47072535 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.388G>C (p.Val130Leu) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000640823] ChrX:47199522 [GRCh38]
ChrX:47058921 [GRCh37]
ChrX:Xp11.3
benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_003334.4(UBA1):c.1159G>A (p.Ala387Thr) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000540370] ChrX:47202740 [GRCh38]
ChrX:47062139 [GRCh37]
ChrX:Xp11.3
uncertain significance
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003334.4(UBA1):c.812-4G>A single nucleotide variant not specified [RCV000420848] ChrX:47202152 [GRCh38]
ChrX:47061551 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.1695C>T (p.Phe565=) single nucleotide variant not specified [RCV000434694] ChrX:47206067 [GRCh38]
ChrX:47065466 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.1742-18G>A single nucleotide variant not specified [RCV000418600] ChrX:47206230 [GRCh38]
ChrX:47065629 [GRCh37]
ChrX:Xp11.3
benign
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003334.4(UBA1):c.176+18C>T single nucleotide variant not specified [RCV000419569] ChrX:47199124 [GRCh38]
ChrX:47058523 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.2157G>A (p.Ser719=) single nucleotide variant not specified [RCV000429621] ChrX:47210081 [GRCh38]
ChrX:47069480 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.2329G>A (p.Gly777Arg) single nucleotide variant not provided [RCV000443698] ChrX:47211090 [GRCh38]
ChrX:47070489 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.1305C>T (p.Asp435=) single nucleotide variant not specified [RCV000444721] ChrX:47203014 [GRCh38]
ChrX:47062413 [GRCh37]
ChrX:Xp11.3
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp11.3-11.23(chrX:46326268-48801984)x2 copy number gain See cases [RCV000511234] ChrX:46326268..48801984 [GRCh37]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_003334.4(UBA1):c.2979C>T (p.Gly993=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000535508] ChrX:47214575 [GRCh38]
ChrX:47073974 [GRCh37]
ChrX:Xp11.3
benign
NM_003334.4(UBA1):c.753A>G (p.Ser251=) single nucleotide variant not provided [RCV000903837]|not specified [RCV000601858] ChrX:47201552 [GRCh38]
ChrX:47060951 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.1048C>T (p.Arg350Cys) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000640811] ChrX:47202496 [GRCh38]
ChrX:47061895 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.910-8C>T single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000640820] ChrX:47202350 [GRCh38]
ChrX:47061749 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.132C>T (p.Asn44=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000865082]|not specified [RCV000612237] ChrX:47199062 [GRCh38]
ChrX:47058461 [GRCh37]
ChrX:Xp11.3
benign|likely benign
NM_003334.4(UBA1):c.411G>A (p.Glu137=) single nucleotide variant not specified [RCV000612352] ChrX:47199545 [GRCh38]
ChrX:47058944 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.3123C>T (p.Asn1041=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000934507]|not specified [RCV000615507] ChrX:47214875 [GRCh38]
ChrX:47074274 [GRCh37]
ChrX:Xp11.3
benign|likely benign
NM_003334.4(UBA1):c.117+9C>T single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000952110]|not specified [RCV000616698] ChrX:47198928 [GRCh38]
ChrX:47058327 [GRCh37]
ChrX:Xp11.3
benign|likely benign
NM_003334.4(UBA1):c.2622C>A (p.Asp874Glu) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000640813] ChrX:47212839 [GRCh38]
ChrX:47072238 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.965A>G (p.Lys322Arg) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000528531] ChrX:47202413 [GRCh38]
ChrX:47061812 [GRCh37]
ChrX:Xp11.3
benign
NM_003334.4(UBA1):c.206G>A (p.Arg69Gln) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000872075]|not specified [RCV000611374] ChrX:47199238 [GRCh38]
ChrX:47058637 [GRCh37]
ChrX:Xp11.3
benign|likely benign
NM_003334.4(UBA1):c.1233+13G>A single nucleotide variant not specified [RCV000609019] ChrX:47202827 [GRCh38]
ChrX:47062226 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.1791G>A (p.Glu597=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000918887]|not specified [RCV000611684] ChrX:47206297 [GRCh38]
ChrX:47065696 [GRCh37]
ChrX:Xp11.3
benign|likely benign
NM_003334.4(UBA1):c.480+19C>G single nucleotide variant not specified [RCV000603537] ChrX:47199633 [GRCh38]
ChrX:47059032 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.176+15G>A single nucleotide variant not specified [RCV000604635] ChrX:47199121 [GRCh38]
ChrX:47058520 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.960C>T (p.Phe320=) single nucleotide variant not specified [RCV000603602] ChrX:47202408 [GRCh38]
ChrX:47061807 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.819T>C (p.Tyr273=) single nucleotide variant not specified [RCV000607535] ChrX:47202163 [GRCh38]
ChrX:47061562 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.2371C>T (p.Leu791=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000546477] ChrX:47211132 [GRCh38]
ChrX:47070531 [GRCh37]
ChrX:Xp11.3
likely benign
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
NM_003334.4(UBA1):c.1353T>C (p.Tyr451=) single nucleotide variant not specified [RCV000605459] ChrX:47203148 [GRCh38]
ChrX:47062547 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.734G>A (p.Gly245Glu) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000640810] ChrX:47201533 [GRCh38]
ChrX:47060932 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.574C>T (p.Arg192Trp) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000640812] ChrX:47200987 [GRCh38]
ChrX:47060386 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.210C>T (p.Leu70=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000640819] ChrX:47199242 [GRCh38]
ChrX:47058641 [GRCh37]
ChrX:Xp11.3
benign
NM_003334.4(UBA1):c.346-3C>A single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000640824] ChrX:47199477 [GRCh38]
ChrX:47058876 [GRCh37]
ChrX:Xp11.3
benign
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_003334.4(UBA1):c.2830C>T (p.Arg944Cys) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000662101] ChrX:47213173 [GRCh38]
ChrX:47072572 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.1049G>A (p.Arg350His) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000701676] ChrX:47202497 [GRCh38]
ChrX:47061896 [GRCh37]
ChrX:Xp11.3
uncertain significance
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp11.23(chrX:46647617-47413846)x2 copy number gain not provided [RCV000684329] ChrX:46647617..47413846 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_003334.4(UBA1):c.2452A>G (p.Asn818Asp) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000694636] ChrX:47211213 [GRCh38]
ChrX:47070612 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.2540T>C (p.Ile847Thr) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000696150] ChrX:47212499 [GRCh38]
ChrX:47071898 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.1924G>C (p.Glu642Gln) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000700440] ChrX:47206430 [GRCh38]
ChrX:47065829 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.2474G>A (p.Arg825His) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000704064] ChrX:47212433 [GRCh38]
ChrX:47071832 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.2626C>G (p.Pro876Ala) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000706706] ChrX:47212843 [GRCh38]
ChrX:47072242 [GRCh37]
ChrX:Xp11.3
uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003334.4(UBA1):c.118-10C>T single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000914059] ChrX:47199038 [GRCh38]
ChrX:47058437 [GRCh37]
ChrX:Xp11.3
likely benign
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_003334.4(UBA1):c.1939-11_1939-3del deletion Spinal muscular atrophy, X-linked 2 [RCV001046497] ChrX:47209609..47209617 [GRCh38]
ChrX:47069008..47069016 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.1339C>T (p.Arg447Cys) single nucleotide variant not provided [RCV000928417] ChrX:47203134 [GRCh38]
ChrX:47062533 [GRCh37]
ChrX:Xp11.3
benign
NM_003334.4(UBA1):c.453C>T (p.Leu151=) single nucleotide variant not provided [RCV000975733] ChrX:47199587 [GRCh38]
ChrX:47058986 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.910-7G>A single nucleotide variant not provided [RCV000928734] ChrX:47202351 [GRCh38]
ChrX:47061750 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.2376G>A (p.Gln792=) single nucleotide variant not provided [RCV000937055] ChrX:47211137 [GRCh38]
ChrX:47070536 [GRCh37]
ChrX:Xp11.3
benign
NM_003334.4(UBA1):c.1851G>A (p.Ser617=) single nucleotide variant not provided [RCV000905254] ChrX:47206357 [GRCh38]
ChrX:47065756 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.2929G>A (p.Asp977Asn) single nucleotide variant not provided [RCV000875704] ChrX:47214417 [GRCh38]
ChrX:47073816 [GRCh37]
ChrX:Xp11.3
benign
NM_003334.4(UBA1):c.39C>T (p.Ser13=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000973205] ChrX:47198841 [GRCh38]
ChrX:47058240 [GRCh37]
ChrX:Xp11.3
benign
NM_003334.4(UBA1):c.2661A>G (p.Ala887=) single nucleotide variant not provided [RCV000877739] ChrX:47213004 [GRCh38]
ChrX:47072403 [GRCh37]
ChrX:Xp11.3
benign
NM_003334.4(UBA1):c.687C>T (p.Pro229=) single nucleotide variant not provided [RCV000923640] ChrX:47201486 [GRCh38]
ChrX:47060885 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.2368T>C (p.Phe790Leu) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000929026] ChrX:47211129 [GRCh38]
ChrX:47070528 [GRCh37]
ChrX:Xp11.3
benign
NM_003334.4(UBA1):c.117+10C>T single nucleotide variant not provided [RCV000943399] ChrX:47198929 [GRCh38]
ChrX:47058328 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.1149C>T (p.Ile383=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000876302] ChrX:47202730 [GRCh38]
ChrX:47062129 [GRCh37]
ChrX:Xp11.3
benign
NM_003334.4(UBA1):c.873C>T (p.Ile291=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000864858] ChrX:47202217 [GRCh38]
ChrX:47061616 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.603C>T (p.Asp201=) single nucleotide variant not provided [RCV000864713] ChrX:47201291 [GRCh38]
ChrX:47060690 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.2359G>A (p.Val787Met) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001055975] ChrX:47211120 [GRCh38]
ChrX:47070519 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.1710C>T (p.Gly570=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001058492] ChrX:47206082 [GRCh38]
ChrX:47065481 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.121A>G (p.Met41Val) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001038219]|VEXAS [RCV001261200]|VEXAS syndrome [RCV001265106] ChrX:47199051 [GRCh38]
ChrX:47058450 [GRCh37]
ChrX:Xp11.3
pathogenic|uncertain significance
NM_003334.4(UBA1):c.2464+9_2464+16del deletion not provided [RCV000902781] ChrX:47211234..47211241 [GRCh38]
ChrX:47070633..47070640 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.2982G>T (p.Val994=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000917050] ChrX:47214578 [GRCh38]
ChrX:47073977 [GRCh37]
ChrX:Xp11.3
benign
NM_003334.4(UBA1):c.1665C>T (p.Asp555=) single nucleotide variant not provided [RCV000872755] ChrX:47206037 [GRCh38]
ChrX:47065436 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.812-8C>T single nucleotide variant not provided [RCV000918879] ChrX:47202148 [GRCh38]
ChrX:47061547 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.852C>T (p.Ser284=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000877329] ChrX:47202196 [GRCh38]
ChrX:47061595 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.2733G>A (p.Lys911=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000873345] ChrX:47213076 [GRCh38]
ChrX:47072475 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.2640G>C (p.Arg880=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000918993] ChrX:47212857 [GRCh38]
ChrX:47072256 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.2299G>A (p.Ala767Thr) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000872433] ChrX:47211060 [GRCh38]
ChrX:47070459 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.1233+8C>T single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000946223] ChrX:47202822 [GRCh38]
ChrX:47062221 [GRCh37]
ChrX:Xp11.3
likely benign
GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622) copy number gain not provided [RCV000767648] ChrX:43507300..48929622 [GRCh37]
ChrX:Xp11.3-11.23
pathogenic
NM_003334.4(UBA1):c.2987T>A (p.Met996Lys) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000815622] ChrX:47214583 [GRCh38]
ChrX:47073982 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.1419+92C>T single nucleotide variant not provided [RCV000839285] ChrX:47203306 [GRCh38]
ChrX:47062705 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.1575+24C>G single nucleotide variant not provided [RCV000832103] ChrX:47203720 [GRCh38]
ChrX:47063119 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.246C>T (p.Gly82=) single nucleotide variant not provided [RCV000841815] ChrX:47199278 [GRCh38]
ChrX:47058677 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.1117G>A (p.Val373Met) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000806516]|not provided [RCV000999410] ChrX:47202698 [GRCh38]
ChrX:47062097 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.1013A>G (p.Gln338Arg) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000797881] ChrX:47202461 [GRCh38]
ChrX:47061860 [GRCh37]
ChrX:Xp11.3
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_003334.4(UBA1):c.1033C>T (p.Arg345Trp) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000797702] ChrX:47202481 [GRCh38]
ChrX:47061880 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.2328C>T (p.Tyr776=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001084914]|not provided [RCV000840035] ChrX:47211089 [GRCh38]
ChrX:47070488 [GRCh37]
ChrX:Xp11.3
benign
NM_003334.4(UBA1):c.1173T>C (p.Ala391=) single nucleotide variant not provided [RCV000871393] ChrX:47202754 [GRCh38]
ChrX:47062153 [GRCh37]
ChrX:Xp11.3
benign
NM_003334.4(UBA1):c.679-33C>G single nucleotide variant not provided [RCV000829408] ChrX:47201445 [GRCh38]
ChrX:47060844 [GRCh37]
ChrX:Xp11.3
benign
NM_003334.4(UBA1):c.1576-161G>A single nucleotide variant not provided [RCV000829409] ChrX:47205787 [GRCh38]
ChrX:47065186 [GRCh37]
ChrX:Xp11.3
benign
NM_003334.4(UBA1):c.2750G>T (p.Arg917Leu) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000805242] ChrX:47213093 [GRCh38]
ChrX:47072492 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.1469T>C (p.Ile490Thr) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000811668] ChrX:47203590 [GRCh38]
ChrX:47062989 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.147C>T (p.Asp49=) single nucleotide variant not provided [RCV000915987] ChrX:47199077 [GRCh38]
ChrX:47058476 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.3127G>A (p.Glu1043Lys) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000792171] ChrX:47214879 [GRCh38]
ChrX:47074278 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.1742-58C>T single nucleotide variant not provided [RCV000833761] ChrX:47206190 [GRCh38]
ChrX:47065589 [GRCh37]
ChrX:Xp11.3
benign
NM_003334.4(UBA1):c.1938+60G>A single nucleotide variant not provided [RCV000833762] ChrX:47206504 [GRCh38]
ChrX:47065903 [GRCh37]
ChrX:Xp11.3
benign
NM_003334.4(UBA1):c.2838+110C>T single nucleotide variant not provided [RCV000833776] ChrX:47213291 [GRCh38]
ChrX:47072690 [GRCh37]
ChrX:Xp11.3
benign
NM_003334.4(UBA1):c.2839-75A>G single nucleotide variant not provided [RCV000833777] ChrX:47214252 [GRCh38]
ChrX:47073651 [GRCh37]
ChrX:Xp11.3
benign
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003334.4(UBA1):c.1318A>C (p.Thr440Pro) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000817123] ChrX:47203027 [GRCh38]
ChrX:47062426 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.613G>A (p.Glu205Lys) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001169076] ChrX:47201301 [GRCh38]
ChrX:47060700 [GRCh37]
ChrX:Xp11.3
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_003334.4(UBA1):c.1034G>A (p.Arg345Gln) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001166162] ChrX:47202482 [GRCh38]
ChrX:47061881 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.811+212A>G single nucleotide variant not provided [RCV000833759] ChrX:47201822 [GRCh38]
ChrX:47061221 [GRCh37]
ChrX:Xp11.3
benign
NM_003334.4(UBA1):c.1233+43T>G single nucleotide variant not provided [RCV000833760] ChrX:47202857 [GRCh38]
ChrX:47062256 [GRCh37]
ChrX:Xp11.3
benign
NM_003334.4(UBA1):c.2004-39C>G single nucleotide variant not provided [RCV000833775] ChrX:47209889 [GRCh38]
ChrX:47069288 [GRCh37]
ChrX:Xp11.3
benign
NM_003334.4(UBA1):c.1151G>A (p.Arg384Gln) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000802456] ChrX:47202732 [GRCh38]
ChrX:47062131 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.1730A>G (p.Asn577Ser) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000819019] ChrX:47206102 [GRCh38]
ChrX:47065501 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.330T>G (p.Ala110=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000980235] ChrX:47199362 [GRCh38]
ChrX:47058761 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.559G>T (p.Val187Leu) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000815998] ChrX:47200972 [GRCh38]
ChrX:47060371 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.1775G>A (p.Arg592Gln) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000816186] ChrX:47206281 [GRCh38]
ChrX:47065680 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.2270A>G (p.Asn757Ser) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000802942] ChrX:47210912 [GRCh38]
ChrX:47070311 [GRCh37]
ChrX:Xp11.3
uncertain significance
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
NM_003334.4(UBA1):c.2554-8C>T single nucleotide variant not provided [RCV000918005] ChrX:47212763 [GRCh38]
ChrX:47072162 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.1197C>T (p.Ala399=) single nucleotide variant not provided [RCV000975228] ChrX:47202778 [GRCh38]
ChrX:47062177 [GRCh37]
ChrX:Xp11.3
benign
NM_003334.4(UBA1):c.910-9C>G single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000804674] ChrX:47202349 [GRCh38]
ChrX:47061748 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.1052A>G (p.Asn351Ser) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000811412] ChrX:47202500 [GRCh38]
ChrX:47061899 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.2584A>G (p.Ile862Val) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000813530] ChrX:47212801 [GRCh38]
ChrX:47072200 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.1356C>T (p.Asp452=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000875377] ChrX:47203151 [GRCh38]
ChrX:47062550 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.106G>A (p.Val36Met) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000793002] ChrX:47198908 [GRCh38]
ChrX:47058307 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.105G>A (p.Ser35=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001169075] ChrX:47198907 [GRCh38]
ChrX:47058306 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.2275-7C>T single nucleotide variant not provided [RCV000976149] ChrX:47211029 [GRCh38]
ChrX:47070428 [GRCh37]
ChrX:Xp11.3
benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
NM_003334.4(UBA1):c.954G>A (p.Thr318=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001208937] ChrX:47202402 [GRCh38]
ChrX:47061801 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.499A>G (p.Thr167Ala) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001221460] ChrX:47200912 [GRCh38]
ChrX:47060311 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.1103G>A (p.Arg368Gln) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001207231] ChrX:47202684 [GRCh38]
ChrX:47062083 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.632C>G (p.Ser211Cys) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001211489] ChrX:47201320 [GRCh38]
ChrX:47060719 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.2653C>A (p.Leu885Met) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001201604] ChrX:47212996 [GRCh38]
ChrX:47072395 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.798G>A (p.Glu266=) single nucleotide variant not provided [RCV000952057] ChrX:47201597 [GRCh38]
ChrX:47060996 [GRCh37]
ChrX:Xp11.3
benign
NM_003334.4(UBA1):c.2309A>G (p.Asn770Ser) single nucleotide variant not provided [RCV000955070] ChrX:47211070 [GRCh38]
ChrX:47070469 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.369C>T (p.Ile123=) single nucleotide variant not provided [RCV000936510] ChrX:47199503 [GRCh38]
ChrX:47058902 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.465C>T (p.Phe155=) single nucleotide variant not provided [RCV000908414] ChrX:47199599 [GRCh38]
ChrX:47058998 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.1569T>C (p.Asp523=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000940837] ChrX:47203690 [GRCh38]
ChrX:47063089 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.1077A>C (p.Val359=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000952378] ChrX:47202658 [GRCh38]
ChrX:47062057 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.1243G>A (p.Gly415Arg) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000931121] ChrX:47202952 [GRCh38]
ChrX:47062351 [GRCh37]
ChrX:Xp11.3
benign
NM_003334.4(UBA1):c.2256C>T (p.Leu752=) single nucleotide variant not provided [RCV000906070] ChrX:47210898 [GRCh38]
ChrX:47070297 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.486G>A (p.Val162=) single nucleotide variant not provided [RCV000950515] ChrX:47200899 [GRCh38]
ChrX:47060298 [GRCh37]
ChrX:Xp11.3
benign
NM_003334.4(UBA1):c.540C>T (p.His180=) single nucleotide variant not provided [RCV000932040] ChrX:47200953 [GRCh38]
ChrX:47060352 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.84C>T (p.Ser28=) single nucleotide variant not provided [RCV000954811] ChrX:47198886 [GRCh38]
ChrX:47058285 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.1482C>T (p.Cys494=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000910797] ChrX:47203603 [GRCh38]
ChrX:47063002 [GRCh37]
ChrX:Xp11.3
benign
NM_003334.4(UBA1):c.1047C>T (p.Pro349=) single nucleotide variant not provided [RCV000939553] ChrX:47202495 [GRCh38]
ChrX:47061894 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.648A>G (p.Pro216=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000872012] ChrX:47201336 [GRCh38]
ChrX:47060735 [GRCh37]
ChrX:Xp11.3
benign
NM_003334.4(UBA1):c.360G>A (p.Glu120=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000876977] ChrX:47199494 [GRCh38]
ChrX:47058893 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.2361G>A (p.Val787=) single nucleotide variant not provided [RCV000924848] ChrX:47211122 [GRCh38]
ChrX:47070521 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.2504G>A (p.Ser835Asn) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001222437] ChrX:47212463 [GRCh38]
ChrX:47071862 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.500C>T (p.Thr167Ile) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001222979] ChrX:47200913 [GRCh38]
ChrX:47060312 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.122T>C (p.Met41Thr) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001239702]|VEXAS [RCV001261202]|VEXAS syndrome [RCV001265107] ChrX:47199052 [GRCh38]
ChrX:47058451 [GRCh37]
ChrX:Xp11.3
pathogenic|uncertain significance
NM_003334.4(UBA1):c.1027C>T (p.His343Tyr) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001197277] ChrX:47202475 [GRCh38]
ChrX:47061874 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.406G>T (p.Ala136Ser) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001227969] ChrX:47199540 [GRCh38]
ChrX:47058939 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.2688G>A (p.Thr896=) single nucleotide variant not provided [RCV000913226] ChrX:47213031 [GRCh38]
ChrX:47072430 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.1194C>T (p.Asn398=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000913281] ChrX:47202775 [GRCh38]
ChrX:47062174 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.108G>A (p.Val36=) single nucleotide variant not provided [RCV000912589] ChrX:47198910 [GRCh38]
ChrX:47058309 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.1929C>T (p.His643=) single nucleotide variant not provided [RCV000935410] ChrX:47206435 [GRCh38]
ChrX:47065834 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.1400G>A (p.Gly467Asp) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV000935537] ChrX:47203195 [GRCh38]
ChrX:47062594 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.3068C>T (p.Ser1023Leu) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001034378] ChrX:47214820 [GRCh38]
ChrX:47074219 [GRCh37]
ChrX:Xp11.3
benign
NM_003334.4(UBA1):c.2004-12G>A single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001168396] ChrX:47209916 [GRCh38]
ChrX:47069315 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003334.4(UBA1):c.2839-3C>T single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001169149] ChrX:47214324 [GRCh38]
ChrX:47073723 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.2878G>T (p.Val960Leu) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001069618] ChrX:47214366 [GRCh38]
ChrX:47073765 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.2059G>A (p.Val687Met) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001049813] ChrX:47209983 [GRCh38]
ChrX:47069382 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.1131C>G (p.Asn377Lys) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001069758] ChrX:47202712 [GRCh38]
ChrX:47062111 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.859A>G (p.Ile287Val) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001048239] ChrX:47202203 [GRCh38]
ChrX:47061602 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.1673G>A (p.Arg558His) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001203682] ChrX:47206045 [GRCh38]
ChrX:47065444 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.683A>G (p.Asn228Ser) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001215817] ChrX:47201482 [GRCh38]
ChrX:47060881 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.904A>G (p.Ser302Gly) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001247150] ChrX:47202248 [GRCh38]
ChrX:47061647 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.977C>T (p.Pro326Leu) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001057275] ChrX:47202425 [GRCh38]
ChrX:47061824 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.1631G>A (p.Arg544Gln) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001215799] ChrX:47206003 [GRCh38]
ChrX:47065402 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.1189A>G (p.Ile397Val) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001207174] ChrX:47202770 [GRCh38]
ChrX:47062169 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.1115C>T (p.Ala372Val) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001232670] ChrX:47202696 [GRCh38]
ChrX:47062095 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.1630C>T (p.Arg544Trp) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001198623] ChrX:47206002 [GRCh38]
ChrX:47065401 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.2646+11T>C single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001168397] ChrX:47212874 [GRCh38]
ChrX:47072273 [GRCh37]
ChrX:Xp11.3
benign
NM_003334.4(UBA1):c.1313T>G (p.Val438Gly) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001055665] ChrX:47203022 [GRCh38]
ChrX:47062421 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.-45C>T single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001169074] ChrX:47193980 [GRCh38]
ChrX:47053379 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.97G>A (p.Val33Met) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001056969] ChrX:47198899 [GRCh38]
ChrX:47058298 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.1683T>C (p.Asp561=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001166656] ChrX:47206055 [GRCh38]
ChrX:47065454 [GRCh37]
ChrX:Xp11.3
uncertain significance
GRCh37/hg19 Xp11.23(chrX:46942052-47379255)x3 copy number gain not provided [RCV001258952] ChrX:46942052..47379255 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_003334.4(UBA1):c.2252C>T (p.Pro751Leu) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001312952] ChrX:47210894 [GRCh38]
ChrX:47070293 [GRCh37]
ChrX:Xp11.3
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_003334.4(UBA1):c.121A>C (p.Met41Leu) single nucleotide variant VEXAS [RCV001261201]|VEXAS syndrome [RCV001265108] ChrX:47199051 [GRCh38]
ChrX:47058450 [GRCh37]
ChrX:Xp11.3
pathogenic
NM_003334.4(UBA1):c.863G>A (p.Arg288His) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001325437] ChrX:47202207 [GRCh38]
ChrX:47061606 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.1292G>C (p.Cys431Ser) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001339905] ChrX:47203001 [GRCh38]
ChrX:47062400 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.575G>A (p.Arg192Gln) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001296725] ChrX:47200988 [GRCh38]
ChrX:47060387 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.2239C>T (p.Arg747Cys) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001334132] ChrX:47210881 [GRCh38]
ChrX:47070280 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.436G>A (p.Ala146Thr) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001351762] ChrX:47199570 [GRCh38]
ChrX:47058969 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.3170T>G (p.Ile1057Ser) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001346477] ChrX:47214922 [GRCh38]
ChrX:47074321 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.1115C>A (p.Ala372Glu) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001338582] ChrX:47202696 [GRCh38]
ChrX:47062095 [GRCh37]
ChrX:Xp11.3
uncertain significance
NC_000023.10:g.(?_46696536)_(47436910_?)dup duplication Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001309817] ChrX:46696536..47436910 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_003334.4(UBA1):c.733G>A (p.Gly245Arg) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001300608] ChrX:47201532 [GRCh38]
ChrX:47060931 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.1014G>C (p.Gln338His) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001350116] ChrX:47202462 [GRCh38]
ChrX:47061861 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.746C>T (p.Ser249Phe) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001321247] ChrX:47201545 [GRCh38]
ChrX:47060944 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.195G>C (p.Glu65Asp) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001344606] ChrX:47199227 [GRCh38]
ChrX:47058626 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.2933A>G (p.Tyr978Cys) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001315972] ChrX:47214421 [GRCh38]
ChrX:47073820 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.793A>G (p.Met265Val) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001325489] ChrX:47201592 [GRCh38]
ChrX:47060991 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.2106C>G (p.Thr702=) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001350545] ChrX:47210030 [GRCh38]
ChrX:47069429 [GRCh37]
ChrX:Xp11.3
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_003334.4(UBA1):c.241C>T (p.Arg81Trp) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001304077] ChrX:47199273 [GRCh38]
ChrX:47058672 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_003334.4(UBA1):c.2843A>G (p.Tyr948Cys) single nucleotide variant Spinal muscular atrophy, X-linked 2 [RCV001306843] ChrX:47214331 [GRCh38]
ChrX:47073730 [GRCh37]
ChrX:Xp11.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12469 AgrOrtholog
COSMIC UBA1 COSMIC
Ensembl Genes ENSG00000130985 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000338413 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000366481 UniProtKB/TrEMBL
  ENSP00000366568 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000389583 UniProtKB/TrEMBL
  ENSP00000397816 UniProtKB/TrEMBL
  ENSP00000401101 UniProtKB/TrEMBL
  ENSP00000404796 UniProtKB/TrEMBL
  ENSP00000415033 UniProtKB/TrEMBL
Ensembl Transcript ENST00000335972 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000377269 UniProtKB/TrEMBL
  ENST00000377351 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000412206 UniProtKB/TrEMBL
  ENST00000427561 UniProtKB/TrEMBL
  ENST00000442035 UniProtKB/TrEMBL
  ENST00000451702 UniProtKB/TrEMBL
  ENST00000457753 UniProtKB/TrEMBL
Gene3D-CATH 1.10.10.2660 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.40.30.180 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.10.290.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.50.50.80 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000130985 GTEx
HGNC ID HGNC:12469 ENTREZGENE
Human Proteome Map UBA1 Human Proteome Map
InterPro E1_4HB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  E1_FCCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  E1_FCCH_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ThiF_NAD_FAD-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ub-activating_enz_E1_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ub-E1_IAD_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBA_E1_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBA_E1_Cys UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubi_acti_E1_SCCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubiquitin-activating_enz UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBQ-activ_enz_E1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBQ-activ_enz_E1_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBQ-activ_enz_E1_Cys_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBQ/SUMO-activ_enz_E1-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7317 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7317 ENTREZGENE
OMIM 301054 OMIM
  301830 OMIM
  314370 OMIM
Pfam E1_4HB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  E1_FCCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  E1_UFD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ThiF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBA_e1_thiolCys UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37119 PharmGKB
PRINTS UBIQUITINACT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE UBIQUITIN_ACTIVAT_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBIQUITIN_ACTIVAT_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART UBA_e1_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF69572 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs Ube1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R1A3 ENTREZGENE, UniProtKB/TrEMBL
  P22314 ENTREZGENE
  Q5JRR6_HUMAN UniProtKB/TrEMBL
  Q5JRR9_HUMAN UniProtKB/TrEMBL
  Q5JRS0_HUMAN UniProtKB/TrEMBL
  Q5JRS1_HUMAN UniProtKB/TrEMBL
  Q5JRS2_HUMAN UniProtKB/TrEMBL
  Q5JRS3_HUMAN UniProtKB/TrEMBL
  UBA1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q5JRR8 UniProtKB/Swiss-Prot
  Q96E13 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 UBA1  ubiquitin like modifier activating enzyme 1  UBA1  ubiquitin-like modifier activating enzyme 1  Symbol and/or name change 5135510 APPROVED