POLA1 (DNA polymerase alpha 1, catalytic subunit) - Rat Genome Database

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Gene: POLA1 (DNA polymerase alpha 1, catalytic subunit) Homo sapiens
Analyze
Symbol: POLA1
Name: DNA polymerase alpha 1, catalytic subunit
RGD ID: 732365
HGNC Page HGNC
Description: Exhibits several functions, including DNA-directed DNA polymerase activity; chromatin binding activity; and protein kinase binding activity. Involved in DNA metabolic process and regulation of type I interferon production. Localizes to cytosol; nuclear envelope; and nuclear lumen. Colocalizes with chromatin. Implicated in Van Esch-O'Driscoll syndrome and X-linked reticulate pigmentary disorder.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DKFZp686K1672; DNA polymerase alpha 1 catalytic subunit; DNA polymerase alpha catalytic subunit; DNA polymerase alpha catalytic subunit p180; DNA polymerase alpha p180 subunit; dna polymerase alpha subunit i; N syndrome (mental retardation, malformations, chromosome breakage); NSX; p180; POLA; polymerase (DNA directed), alpha 1; polymerase (DNA directed), alpha 1, catalytic subunit; polymerase (DNA) alpha 1, catalytic subunit; polymerase (DNA-directed), alpha (70kD); VEODS
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 EnsemblX24,693,873 - 24,996,986 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX24,693,909 - 24,996,986 (+)EnsemblGRCh38hg38GRCh38
GRCh38X24,693,877 - 24,996,986 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X24,712,035 - 25,015,103 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X24,621,977 - 24,925,024 (+)NCBINCBI36hg18NCBI36
Build 34X24,471,720 - 24,774,757NCBI
CeleraX28,834,936 - 29,139,042 (+)NCBI
Cytogenetic MapXp22.11-p21.3NCBI
HuRefX22,454,314 - 22,756,924 (+)NCBIHuRef
CHM1_1X24,743,660 - 25,046,638 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
1,1-dichloroethene  (ISO)
1-chloro-2,4-dinitrobenzene  (ISO)
1-nitropyrene  (EXP)
14-Deoxy-11,12-didehydroandrographolide  (EXP)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-diaminotoluene  (ISO)
2-methylcholine  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-methylcholanthrene  (ISO)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
aflatoxin B1  (EXP,ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
aphidicolin  (EXP,ISO)
atrazine  (EXP)
azathioprine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bexarotene  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chlorpromazine  (EXP)
choline  (ISO)
chromium(6+)  (EXP,ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP,ISO)
copper atom  (EXP)
copper(0)  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP,ISO)
dexamethasone  (EXP)
diethylstilbestrol  (EXP)
dimethylarsinic acid  (ISO)
dioxygen  (EXP)
doxorubicin  (ISO)
Enterolactone  (EXP)
folic acid  (ISO)
geraniol  (EXP)
indometacin  (EXP)
irinotecan  (EXP,ISO)
iron(III) nitrilotriacetate  (ISO)
ketamine  (ISO)
L-methionine  (ISO)
lipopolysaccharide  (ISO)
methylseleninic acid  (EXP)
N-nitrosodiethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
oxaliplatin  (ISO)
paracetamol  (ISO)
PCB138  (ISO)
phenethyl isothiocyanate  (EXP)
phenobarbital  (ISO)
potassium chromate  (EXP)
quercetin  (EXP)
resveratrol  (EXP)
rotenone  (EXP)
silicon dioxide  (ISO)
sodium dichromate  (ISO)
succimer  (ISO)
tetrachloromethane  (ISO)
toluene 2,4-diisocyanate  (ISO)
topotecan  (ISO)
Tributyltin oxide  (ISO)
trimellitic anhydride  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vincristine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
alpha DNA polymerase:primase complex  (IBA,IDA,IEA,ISO,TAS)
chromatin  (IDA)
cytosol  (IDA)
nuclear envelope  (IDA)
nuclear matrix  (IDA)
nucleolus  (IDA)
nucleoplasm  (IDA,TAS)
nucleus  (IDA)

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

Human Phenotype
Absence of secondary sex characteristics  (IAGP)
Atrial septal defect  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autistic behavior  (IAGP)
Bifid uvula  (IAGP)
Broad eyebrow  (IAGP)
Bronchiectasis  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebral atrophy  (IAGP)
Childhood onset  (IAGP)
Chronic diarrhea  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Clubbing  (IAGP)
Colitis  (IAGP)
Corneal scarring  (IAGP)
Coronal craniosynostosis  (IAGP)
Cryptorchidism  (IAGP)
Cutaneous amyloidosis  (IAGP)
Cutis marmorata  (IAGP)
Decreased serum testosterone level  (IAGP)
Decreased testicular size  (IAGP)
Delayed skeletal maturation  (IAGP)
Failure to thrive  (IAGP)
Failure to thrive in infancy  (IAGP)
Feeding difficulties  (IAGP)
Frontal upsweep of hair  (IAGP)
Generalized reticulate brown pigmentation  (IAGP)
Global developmental delay  (IAGP)
Hypergonadotropic hypogonadism  (IAGP)
Hyperkeratosis  (IAGP)
Hypohidrosis  (IAGP)
Impaired social interactions  (IAGP)
Increased circulating gonadotropin level  (IAGP)
Increased circulating interleukin 8  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intrauterine growth retardation  (IAGP)
Long face  (IAGP)
Male hypogonadism  (IAGP)
Microcephaly  (IAGP)
Microtia  (IAGP)
Photophobia  (IAGP)
Pulmonary artery stenosis  (IAGP)
Pulmonary valve atresia  (IAGP)
Recurrent infections  (IAGP)
Recurrent pneumonia  (IAGP)
Reduced circulating interferon gamma  (IAGP)
Reticular hyperpigmentation  (IAGP)
Retractile testis  (IAGP)
Retrognathia  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short stature  (IAGP)
Shyness  (IAGP)
Spasticity  (IAGP)
Spina bifida occulta  (IAGP)
Type II diabetes mellitus  (IAGP)
Unilateral vocal cord paralysis  (IAGP)
Upslanted palpebral fissure  (IAGP)
Urethral stricture  (IAGP)
Ventricular septal defect  (IAGP)
Visual loss  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:893425   PMID:1311258   PMID:1508673   PMID:1689958   PMID:1730053   PMID:1848671   PMID:1903085   PMID:2005899   PMID:2175912   PMID:2243771   PMID:2410918   PMID:3139084  
PMID:3335506   PMID:3359994   PMID:3490907   PMID:3820307   PMID:3917431   PMID:4084590   PMID:6693436   PMID:7045121   PMID:7085672   PMID:7504813   PMID:7644508   PMID:7910375  
PMID:8026492   PMID:8223465   PMID:8226963   PMID:8380896   PMID:8648648   PMID:8760400   PMID:8889548   PMID:9039979   PMID:9395244   PMID:9506968   PMID:9518481   PMID:9563011  
PMID:9815285   PMID:9822671   PMID:10518787   PMID:10869558   PMID:10873756   PMID:10877824   PMID:11259605   PMID:11470886   PMID:11473323   PMID:11917009   PMID:11968016   PMID:12181327  
PMID:12220650   PMID:12393188   PMID:12546699   PMID:12665598   PMID:12950174   PMID:14499601   PMID:15146197   PMID:15615704   PMID:16438930   PMID:16762037   PMID:16935576   PMID:17209555  
PMID:17666013   PMID:17699597   PMID:17761813   PMID:18029348   PMID:19177015   PMID:19490893   PMID:19608746   PMID:19615732   PMID:21705323   PMID:21873635   PMID:22465957   PMID:22586326  
PMID:22593576   PMID:22623531   PMID:22658674   PMID:22678362   PMID:22679391   PMID:22863883   PMID:22887995   PMID:22918585   PMID:22939629   PMID:23390603   PMID:23891004   PMID:24332808  
PMID:24962573   PMID:25847248   PMID:25921289   PMID:25924900   PMID:26186194   PMID:26344197   PMID:26496610   PMID:27019227   PMID:27032819   PMID:27114546   PMID:27235627   PMID:28320388  
PMID:28371302   PMID:28514442   PMID:28515276   PMID:28757209   PMID:29117863   PMID:29467282   PMID:29507755   PMID:29555682   PMID:29568061   PMID:29676528   PMID:29955894   PMID:30033366  
PMID:30104407   PMID:30585266   PMID:30890647   PMID:30945288   PMID:30948266   PMID:31006512   PMID:31091453   PMID:32353859   PMID:32416067   PMID:32694731   PMID:32786267   PMID:33060197  


Genomics

Comparative Map Data
POLA1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX24,693,873 - 24,996,986 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX24,693,909 - 24,996,986 (+)EnsemblGRCh38hg38GRCh38
GRCh38X24,693,877 - 24,996,986 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X24,712,035 - 25,015,103 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X24,621,977 - 24,925,024 (+)NCBINCBI36hg18NCBI36
Build 34X24,471,720 - 24,774,757NCBI
CeleraX28,834,936 - 29,139,042 (+)NCBI
Cytogenetic MapXp22.11-p21.3NCBI
HuRefX22,454,314 - 22,756,924 (+)NCBIHuRef
CHM1_1X24,743,660 - 25,046,638 (+)NCBICHM1_1
Pola1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X92,348,372 - 92,675,993 (-)NCBIGRCm39mm39
GRCm39 EnsemblX92,348,373 - 92,675,761 (-)Ensembl
GRCm38X93,304,766 - 93,632,387 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX93,304,767 - 93,632,155 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X90,550,105 - 90,877,494 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X89,557,486 - 89,884,874 (-)NCBImm8
CeleraX80,226,588 - 80,553,952 (-)NCBICelera
Cytogenetic MapXC3NCBI
cM MapX41.06NCBI
Pola1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X58,034,617 - 58,348,612 (-)NCBI
Rnor_6.0 EnsemblX62,382,608 - 62,698,830 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X62,382,604 - 62,698,830 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X62,976,409 - 63,270,153 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0X63,279,367 - 63,291,732 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X80,650,454 - 80,965,833 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X80,724,688 - 81,039,135 (-)NCBI
CeleraX58,474,102 - 58,787,051 (-)NCBICelera
Cytogenetic MapXq22NCBI
Pola1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555095,007,182 - 5,319,894 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555095,007,385 - 5,319,683 (+)NCBIChiLan1.0ChiLan1.0
POLA1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X24,657,810 - 24,958,599 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX24,657,878 - 24,960,231 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X17,290,805 - 17,592,163 (+)NCBIMhudiblu_PPA_v0panPan3
POLA1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X20,227,808 - 20,537,893 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX20,227,886 - 20,537,902 (+)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X20,182,948 - 20,491,763 (+)NCBI
UMICH_Zoey_3.1X20,220,608 - 20,530,777 (+)NCBI
UNSW_CanFamBas_1.0X20,254,024 - 20,564,294 (+)NCBI
UU_Cfam_GSD_1.0X20,311,257 - 20,621,342 (+)NCBI
Pola1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X13,138,978 - 13,525,949 (+)NCBI
SpeTri2.0NW_0049368361,151 - 287,438 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
POLA1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX20,756,201 - 21,102,061 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X20,756,674 - 21,064,265 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
POLA1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X23,184,921 - 23,492,836 (+)NCBI
ChlSab1.1 EnsemblX23,185,046 - 23,492,992 (+)Ensembl
Pola1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624897969,431 - 1,272,762 (+)NCBI

Position Markers
DXS7504  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X24,824,251 - 24,824,539UniSTSGRCh37
Build 36X24,734,172 - 24,734,460RGDNCBI36
CeleraX28,947,120 - 28,947,408RGD
Cytogenetic MapXp22.1-p21.3UniSTS
GeneMap99-GB4 RH MapX100.43UniSTS
Whitehead-RH MapX20.0UniSTS
Whitehead-YAC Contig MapX UniSTS
NCBI RH MapX43.0UniSTS
STS-X06745  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X25,014,711 - 25,014,929UniSTSGRCh37
Build 36X24,924,632 - 24,924,850RGDNCBI36
CeleraX29,138,650 - 29,138,868RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX22,756,532 - 22,756,750UniSTS
GeneMap99-GB4 RH MapX100.43UniSTS
NCBI RH MapX43.0UniSTS
AFM240zf6  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X24,759,144 - 24,759,401UniSTSGRCh37
Build 36X24,669,065 - 24,669,322RGDNCBI36
CeleraX28,882,016 - 28,882,273RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX22,501,744 - 22,502,003UniSTS
DXS1396  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X24,826,504 - 24,826,565UniSTSGRCh37
Build 36X24,736,425 - 24,736,486RGDNCBI36
CeleraX28,949,373 - 28,949,434RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX22,568,725 - 22,568,786UniSTS
GDB:192498  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X24,717,554 - 24,717,636UniSTSGRCh37
Build 36X24,627,475 - 24,627,557RGDNCBI36
CeleraX28,840,426 - 28,840,508RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX22,459,801 - 22,459,883UniSTS
SHGC-85317  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X24,754,328 - 24,754,645UniSTSGRCh37
Build 36X24,664,249 - 24,664,566RGDNCBI36
CeleraX28,877,200 - 28,877,517RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX22,496,783 - 22,497,245UniSTS
RH120529  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X24,786,606 - 24,786,913UniSTSGRCh37
Build 36X24,696,527 - 24,696,834RGDNCBI36
CeleraX28,909,476 - 28,909,783RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX22,528,860 - 22,529,167UniSTS
DXS6717  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X25,007,227 - 25,007,364UniSTSGRCh37
Build 36X24,917,148 - 24,917,285RGDNCBI36
CeleraX29,131,166 - 29,131,303RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX22,749,050 - 22,749,187UniSTS
RH11251  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X24,824,286 - 24,824,413UniSTSGRCh37
Build 36X24,734,207 - 24,734,334RGDNCBI36
CeleraX28,947,155 - 28,947,282RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX22,566,305 - 22,566,432UniSTS
GeneMap99-GB4 RH MapX100.43UniSTS
PMC24149P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X24,711,662 - 24,712,010UniSTSGRCh37
Build 36X24,621,583 - 24,621,931RGDNCBI36
CeleraX28,834,534 - 28,834,882RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX22,453,912 - 22,454,260UniSTS
DXS1198  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X24,759,138 - 24,759,381UniSTSGRCh37
Build 36X24,669,059 - 24,669,302RGDNCBI36
CeleraX28,882,010 - 28,882,253RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX22,501,738 - 22,501,983UniSTS
Whitehead-YAC Contig MapX UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1387
Count of miRNA genes:655
Interacting mature miRNAs:726
Transcripts:ENST00000379059, ENST00000379068, ENST00000480125, ENST00000493342, ENST00000494204
Prediction methods:Miranda, Pita, Pita,Targetscan, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 203 97 54 40 678 44 766 72 528 90 328 278 9 8 465 3
Low 2236 2604 1663 575 1020 412 3591 2088 3202 328 1132 1335 166 1 1196 2323 3 2
Below cutoff 290 9 9 253 9 37 4 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC002504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC079375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC135280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY275833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM664024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU508486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN364591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DW462890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB393262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M64481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X06745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X66868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000379059   ⟹   ENSP00000368349
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX24,693,947 - 24,996,986 (+)Ensembl
RefSeq Acc Id: ENST00000379068   ⟹   ENSP00000368358
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX24,693,919 - 24,996,986 (+)Ensembl
RefSeq Acc Id: ENST00000480125
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX24,745,503 - 24,810,781 (+)Ensembl
RefSeq Acc Id: ENST00000493342
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX24,726,933 - 24,734,353 (+)Ensembl
RefSeq Acc Id: ENST00000494204
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX24,812,830 - 24,841,983 (+)Ensembl
RefSeq Acc Id: ENST00000611764   ⟹   ENSP00000478401
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX24,693,947 - 24,996,983 (+)Ensembl
RefSeq Acc Id: ENST00000672178   ⟹   ENSP00000500742
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX24,693,909 - 24,996,969 (+)Ensembl
RefSeq Acc Id: ENST00000676703
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX24,714,317 - 24,716,407 (+)Ensembl
RefSeq Acc Id: ENST00000677083
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX24,791,833 - 24,795,009 (+)Ensembl
RefSeq Acc Id: ENST00000677890   ⟹   ENSP00000503099
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX24,693,941 - 24,728,628 (+)Ensembl
RefSeq Acc Id: ENST00000677939
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX24,889,129 - 24,914,546 (+)Ensembl
RefSeq Acc Id: ENST00000678249
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX24,737,357 - 24,743,608 (+)Ensembl
RefSeq Acc Id: ENST00000678847
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX24,693,873 - 24,724,848 (+)Ensembl
RefSeq Acc Id: ENST00000679301
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX24,809,275 - 24,996,954 (+)Ensembl
RefSeq Acc Id: NM_001330360   ⟹   NP_001317289
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,693,918 - 24,996,986 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001378303   ⟹   NP_001365232
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,693,918 - 24,996,986 (+)NCBI
RefSeq Acc Id: NM_016937   ⟹   NP_058633
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,693,918 - 24,996,986 (+)NCBI
GRCh37X24,712,038 - 25,015,103 (+)NCBI
Build 36X24,621,977 - 24,925,024 (+)NCBI Archive
HuRefX22,454,314 - 22,756,924 (+)ENTREZGENE
CHM1_1X24,743,660 - 25,046,638 (+)NCBI
Sequence:
RefSeq Acc Id: NR_165482
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,693,918 - 24,996,986 (+)NCBI
RefSeq Acc Id: NR_165483
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,693,918 - 24,996,986 (+)NCBI
RefSeq Acc Id: XM_006724499   ⟹   XP_006724562
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,693,926 - 24,996,986 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545540   ⟹   XP_011543842
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,693,877 - 24,846,223 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545541   ⟹   XP_011543843
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,693,877 - 24,748,427 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029594   ⟹   XP_016885083
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,693,877 - 24,934,700 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029595   ⟹   XP_016885084
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,693,877 - 24,936,536 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029596   ⟹   XP_016885085
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,693,877 - 24,856,865 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452392   ⟹   XP_024308160
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,693,878 - 24,822,319 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_058633   ⟸   NM_016937
- Peptide Label: isoform 2
- UniProtKB: P09884 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006724562   ⟸   XM_006724499
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011543843   ⟸   XM_011545541
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011543842   ⟸   XM_011545540
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016885084   ⟸   XM_017029595
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016885083   ⟸   XM_017029594
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016885085   ⟸   XM_017029596
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: NP_001317289   ⟸   NM_001330360
- Peptide Label: isoform 1
- UniProtKB: A6NMQ1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024308160   ⟸   XM_024452392
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: NP_001365232   ⟸   NM_001378303
- Peptide Label: isoform 3
RefSeq Acc Id: ENSP00000478401   ⟸   ENST00000611764
RefSeq Acc Id: ENSP00000368349   ⟸   ENST00000379059
RefSeq Acc Id: ENSP00000368358   ⟸   ENST00000379068
RefSeq Acc Id: ENSP00000500742   ⟸   ENST00000672178
RefSeq Acc Id: ENSP00000503099   ⟸   ENST00000677890
Promoters
RGD ID:6808681
Promoter ID:HG_KWN:66285
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000379059,   ENST00000379068,   UC004DBM.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36X24,621,556 - 24,622,056 (+)MPROMDB
RGD ID:13604956
Promoter ID:EPDNEW_H28663
Type:initiation region
Name:POLA1_1
Description:DNA polymerase alpha 1, catalytic subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,693,921 - 24,693,981EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.11-21.3(chrX:24715187-25004423)x3 copy number gain See cases [RCV000050964] ChrX:24715187..25004423 [GRCh38]
ChrX:24733304..25022540 [GRCh37]
ChrX:24643225..24932461 [NCBI36]
ChrX:Xp22.11-21.3
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.11-11.4(chrX:22420237-38834728)x1 copy number loss See cases [RCV000053063] ChrX:22420237..38834728 [GRCh38]
ChrX:22438354..38693981 [GRCh37]
ChrX:22348275..38578925 [NCBI36]
ChrX:Xp22.11-11.4
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
NM_016937.3(POLA1):c.2947-21352G>A single nucleotide variant Malignant melanoma [RCV000073155] ChrX:24788546 [GRCh38]
ChrX:24806663 [GRCh37]
ChrX:24716584 [NCBI36]
ChrX:Xp22.11
not provided
NM_016937.3(POLA1):c.2947-20962A>G single nucleotide variant Malignant melanoma [RCV000073156] ChrX:24788936 [GRCh38]
ChrX:24807053 [GRCh37]
ChrX:24716974 [NCBI36]
ChrX:Xp22.11
not provided
NM_016937.3(POLA1):c.2947-20904C>T single nucleotide variant Malignant melanoma [RCV000073157] ChrX:24788994 [GRCh38]
ChrX:24807111 [GRCh37]
ChrX:24717032 [NCBI36]
ChrX:Xp22.11
not provided
NM_016937.3(POLA1):c.2947-20856C>T single nucleotide variant Malignant melanoma [RCV000073158] ChrX:24789042 [GRCh38]
ChrX:24807159 [GRCh37]
ChrX:24717080 [NCBI36]
ChrX:Xp22.11
not provided
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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-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-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 Xp22.33-11.22(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-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-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 Xp22.2-21.2(chrX:12254555-30410580)x1 copy number loss See cases [RCV000138069] ChrX:12254555..30410580 [GRCh38]
ChrX:12272674..30428697 [GRCh37]
ChrX:12182595..30338618 [NCBI36]
ChrX:Xp22.2-21.2
pathogenic|likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.11-21.3(chrX:24249402-25137657)x3 copy number gain See cases [RCV000143452] ChrX:24249402..25137657 [GRCh38]
ChrX:24267519..25155774 [GRCh37]
ChrX:24177440..25065695 [NCBI36]
ChrX:Xp22.11-21.3
uncertain significance
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 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.11-21.3(chrX:24627016-25321278)x3 copy number gain See cases [RCV000143527] ChrX:24627016..25321278 [GRCh38]
ChrX:24645133..25339395 [GRCh37]
ChrX:24555054..25249316 [NCBI36]
ChrX:Xp22.11-21.3
uncertain significance
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:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(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
NM_001330360.2(POLA1):c.1393-354A>G single nucleotide variant Pigmentary disorder, reticulate, with systemic manifestations, X-linked [RCV000210684]|not provided [RCV001092577] ChrX:24726579 [GRCh38]
ChrX:24744696 [GRCh37]
ChrX:Xp22.11
pathogenic
POLA1, IVS13, A-G single nucleotide variant Pigmentary disorder, reticulate, with systemic manifestations [RCV000235091]|Pigmentary disorder, reticulate, with systemic manifestations, X-linked [RCV000235091] ChrX:Xp22.11-21.3 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.11-21.3(chrX:24006637-25035452)x2 copy number gain See cases [RCV000240096] ChrX:24006637..25035452 [GRCh37]
ChrX:Xp22.11-21.3
uncertain significance
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:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
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 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_016937.4(POLA1):c.394A>G (p.Asn132Asp) single nucleotide variant Pigmentary disorder, reticulate, with systemic manifestations, X-linked [RCV000626207] ChrX:24714619 [GRCh38]
ChrX:24732736 [GRCh37]
ChrX:Xp22.11
uncertain significance
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
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:168546-154930047)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:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [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-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
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:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [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:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
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 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
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 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
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 Xp22.11-21.3(chrX:24650157-25310366)x2 copy number gain See cases [RCV000510354] ChrX:24650157..25310366 [GRCh37]
ChrX:Xp22.11-21.3
uncertain significance
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 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2
pathogenic
GRCh37/hg19 Xp22.2-21.2(chrX:15290524-29747172)x2 copy number gain See cases [RCV000511443] ChrX:15290524..29747172 [GRCh37]
ChrX:Xp22.2-21.2
likely 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:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
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
Single allele duplication not provided [RCV000677992] ChrX:24674284..25094832 [GRCh37]
ChrX:Xp22.11-21.3
uncertain significance
GRCh37/hg19 Xp22.11-21.3(chrX:23371361-25493197)x3 copy number gain not provided [RCV000684291] ChrX:23371361..25493197 [GRCh37]
ChrX:Xp22.11-21.3
uncertain significance
GRCh37/hg19 Xp22.11-21.1(chrX:24650157-31844543)x2 copy number gain not provided [RCV000684294] ChrX:24650157..31844543 [GRCh37]
ChrX:Xp22.11-21.1
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
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 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_016937.4(POLA1):c.3604G>C (p.Asp1202His) single nucleotide variant Pigmentary disorder, reticulate, with systemic manifestations, X-linked [RCV000714859]|not provided [RCV000894499] ChrX:24826487 [GRCh38]
ChrX:24844604 [GRCh37]
ChrX:Xp22.11
benign|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 Xp22.33-11.22(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
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:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [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
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001330360.2(POLA1):c.323A>G (p.Asp108Gly) single nucleotide variant not provided [RCV000762613] ChrX:24704446 [GRCh38]
ChrX:24722563 [GRCh37]
ChrX:Xp22.11
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_001330360.2(POLA1):c.1207G>A (p.Asp403Asn) single nucleotide variant Van Esch-O'Driscoll syndrome [RCV000995840] ChrX:24724341 [GRCh38]
ChrX:24742458 [GRCh37]
ChrX:Xp22.11
likely pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_001330360.2(POLA1):c.525+1G>A single nucleotide variant Van Esch-O'Driscoll syndrome [RCV000791331] ChrX:24715204 [GRCh38]
ChrX:24733321 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_016937.3(POLA1):c.445_507del (p.Lys149_Glu169del) deletion Van Esch-O'Driscoll syndrome [RCV000791332] ChrX:24715139..24715201 [GRCh38]
ChrX:24733256..24733318 [GRCh37]
ChrX:Xp22.11
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001330360.2(POLA1):c.254T>G (p.Ile85Ser) single nucleotide variant Van Esch-O'Driscoll syndrome [RCV000791329] ChrX:24703336 [GRCh38]
ChrX:24721453 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_001330360.2(POLA1):c.4160C>T (p.Pro1387Leu) single nucleotide variant Van Esch-O'Driscoll syndrome [RCV000791330] ChrX:24888118 [GRCh38]
ChrX:24906235 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_001330360.2(POLA1):c.346G>A (p.Gly116Arg) single nucleotide variant Van Esch-O'Driscoll syndrome [RCV000791333] ChrX:24704469 [GRCh38]
ChrX:24722586 [GRCh37]
ChrX:Xp22.11
pathogenic
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
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_001330360.2(POLA1):c.1393-9C>T single nucleotide variant not provided [RCV000960215] ChrX:24726924 [GRCh38]
ChrX:24745041 [GRCh37]
ChrX:Xp22.11
likely benign
NC_000023.10:g.(?_25013922)_(25025556_?)dup duplication Epileptic encephalopathy, early infantile, 1 [RCV000796785] ChrX:24995805..25007439 [GRCh38]
ChrX:25013922..25025556 [GRCh37]
ChrX:Xp21.3
uncertain significance
GRCh37/hg19 Xp22.11-21.3(chrX:24873331-24989476)x2 copy number gain not provided [RCV000848181] ChrX:24873331..24989476 [GRCh37]
ChrX:Xp22.11-21.3
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.11-21.3(chrX:24619903-25140021)x3 copy number gain not provided [RCV000849277] ChrX:24619903..25140021 [GRCh37]
ChrX:Xp22.11-21.3
uncertain significance
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
GRCh37/hg19 Xp22.12-21.1(chrX:20925922-35511818)x1 copy number loss not provided [RCV000847678] ChrX:20925922..35511818 [GRCh37]
ChrX:Xp22.12-21.1
pathogenic
NM_001330360.2(POLA1):c.3297-4G>T single nucleotide variant not provided [RCV000974668] ChrX:24814975 [GRCh38]
ChrX:24833092 [GRCh37]
ChrX:Xp22.11
likely benign
NM_001330360.2(POLA1):c.4356C>T (p.Tyr1452=) single nucleotide variant not provided [RCV000892384] ChrX:24995899 [GRCh38]
ChrX:25014016 [GRCh37]
ChrX:Xp21.3
benign
NM_001330360.2(POLA1):c.1167C>T (p.Ile389=) single nucleotide variant not provided [RCV000974337] ChrX:24723234 [GRCh38]
ChrX:24741351 [GRCh37]
ChrX:Xp22.11
benign
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NM_001330360.2(POLA1):c.1771+16del deletion not provided [RCV000955609] ChrX:24732462 [GRCh38]
ChrX:24750579 [GRCh37]
ChrX:Xp22.11
benign
NM_001330360.2(POLA1):c.1021G>T (p.Ala341Ser) single nucleotide variant not provided [RCV000891326] ChrX:24717692 [GRCh38]
ChrX:24735809 [GRCh37]
ChrX:Xp22.11
benign
GRCh37/hg19 Xp22.11-21.3(chrX:24860361-25221642)x3 copy number gain not provided [RCV001007277] ChrX:24860361..25221642 [GRCh37]
ChrX:Xp22.11-21.3
likely pathogenic
GRCh37/hg19 Xp22.11-21.3(chrX:24466056-24968754)x3 copy number gain not provided [RCV001259454] ChrX:24466056..24968754 [GRCh37]
ChrX:Xp22.11-21.3
uncertain significance
GRCh37/hg19 Xp22.11(chrX:24633853-24860330)x3 copy number gain not provided [RCV001259452] ChrX:24633853..24860330 [GRCh37]
ChrX:Xp22.11
uncertain significance
GRCh37/hg19 Xp22.11-21.3(chrX:24687736-25563452)x3 copy number gain not provided [RCV001259453] ChrX:24687736..25563452 [GRCh37]
ChrX:Xp22.11-21.3
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_001330360.2(POLA1):c.3050A>G (p.Asn1017Ser) single nucleotide variant Van Esch-O'Driscoll syndrome [RCV001328971] ChrX:24810760 [GRCh38]
ChrX:24828877 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_001330360.2(POLA1):c.3469del (p.Ser1157fs) deletion Pigmentary disorder, reticulate, with systemic manifestations, X-linked [RCV001333935] ChrX:24821485 [GRCh38]
ChrX:24839602 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_001330360.2(POLA1):c.4025G>A (p.Arg1342His) single nucleotide variant not provided [RCV001344780] ChrX:24843655 [GRCh38]
ChrX:24861772 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_001330360.2(POLA1):c.455C>T (p.Thr152Ile) single nucleotide variant not provided [RCV001317760] ChrX:24714662 [GRCh38]
ChrX:24732779 [GRCh37]
ChrX:Xp22.11
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

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9173 AgrOrtholog
COSMIC POLA1 COSMIC
Ensembl Genes ENSG00000101868 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000368349 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000368358 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000500742 UniProtKB/TrEMBL
  ENSP00000503099 UniProtKB/TrEMBL
Ensembl Transcript ENST00000379059 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000379068 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000672178 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000677890 UniProtKB/TrEMBL
Gene3D-CATH 1.10.132.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.10.3200.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.420.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.1600.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000101868 GTEx
HGNC ID HGNC:9173 ENTREZGENE
Human Proteome Map POLA1 Human Proteome Map
InterPro DNA-dir_DNA_pol_B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA-dir_DNA_pol_B_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA-dir_DNA_pol_B_exonuc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA-dir_DNA_pol_B_multi_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA/RNA_pol_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_pol_a_cat_su_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_pol_B_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_pol_palm_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pol_alpha_znc_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNaseH-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNaseH_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_DNA-dir_DNA_pol_B_alpha UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5422 UniProtKB/Swiss-Prot
NCBI Gene 5422 ENTREZGENE
OMIM 301030 OMIM
  301220 OMIM
  312040 OMIM
Pfam DNA_pol_alpha_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_pol_B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_pol_B_exo1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-DNA_Pol UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162399856 PharmGKB
PRINTS DNAPOLB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE DNA_POLYMERASE_B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART POLBc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53098 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56672 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A5F9ZHW2_HUMAN UniProtKB/TrEMBL
  A0A7I2V2V3_HUMAN UniProtKB/TrEMBL
  A6NMQ1 ENTREZGENE, UniProtKB/TrEMBL
  DPOLA_HUMAN UniProtKB/Swiss-Prot
  L8ECG9_HUMAN UniProtKB/TrEMBL
  P09884 ENTREZGENE
UniProt Secondary Q86UQ7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-19 POLA1  DNA polymerase alpha 1, catalytic subunit    polymerase (DNA) alpha 1, catalytic subunit  Symbol and/or name change 5135510 APPROVED
2016-04-05 POLA1  polymerase (DNA) alpha 1, catalytic subunit  NSX  N syndrome (mental retardation, malformations, chromosome breakage)  Data Merged 737654 PROVISIONAL
2016-03-07 POLA1  polymerase (DNA) alpha 1, catalytic subunit    polymerase (DNA directed), alpha 1, catalytic subunit  Symbol and/or name change 5135510 APPROVED