POLR3A (RNA polymerase III subunit A) - Rat Genome Database
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Gene: POLR3A (RNA polymerase III subunit A) Homo sapiens
Analyze
Symbol: POLR3A
Name: RNA polymerase III subunit A
RGD ID: 1351863
HGNC Page HGNC
Description: Predicted to contribute to DNA-directed 5'-3' RNA polymerase activity. Involved in innate immune response and positive regulation of interferon-beta production. Localizes to RNA polymerase III complex and nucleoplasm. Implicated in hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism and progeria.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ADDH; C160; DNA-directed RNA polymerase III largest subunit; DNA-directed RNA polymerase III subunit A; DNA-directed RNA polymerase III subunit RPC1; HLD7; hRPC155; polymerase (RNA) III (DNA directed) polypeptide A, 155kDa; polymerase (RNA) III subunit A; RNA polymerase III 155 kDa subunit; RNA polymerase III subunit C1; RNA polymerase III subunit C160; RNA polymerase III subunit RPC155-D; RPC1; RPC155; WDRTS
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 Ensembl1077,969,251 - 78,029,515 (-)EnsemblGRCh38hg38GRCh38
GRCh381077,975,149 - 78,029,515 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371079,734,907 - 79,789,298 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361079,405,900 - 79,459,265 (-)NCBINCBI36hg18NCBI36
Build 341079,405,911 - 79,459,265NCBI
Celera1073,021,499 - 73,075,893 (-)NCBI
Cytogenetic Map10q22.3NCBI
HuRef1073,729,855 - 73,784,226 (-)NCBIHuRef
CHM1_11080,017,697 - 80,072,040 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytosol  (TAS)
membrane  (HDA)
nucleoplasm  (IDA,TAS)
RNA polymerase III complex  (IBA,IDA)

Molecular Function

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

Human Phenotype
2-3 toe syndactyly  (IAGP)
Abnormal corpus striatum morphology  (IAGP)
Abnormal upper motor neuron morphology  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Abnormality of ocular smooth pursuit  (IAGP)
Abnormality of the basal ganglia  (IAGP)
Absence of subcutaneous fat  (IAGP)
Absent earlobe  (IAGP)
Acanthosis nigricans  (IAGP)
Action tremor  (IAGP)
Agenesis of corpus callosum  (IAGP)
Anteverted nares  (IAGP)
Aplasia/Hypoplasia of the nails  (IAGP)
Arnold-Chiari malformation  (IAGP)
Arnold-Chiari type I malformation  (IAGP)
Ataxia  (IAGP)
Atlantoaxial abnormality  (IAGP)
Autonomic bladder dysfunction  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Blue sclerae  (IAGP)
Broad eyebrow  (IAGP)
Broad forehead  (IAGP)
Caesarian section  (IAGP)
Camptodactyly of finger  (IAGP)
Cataract  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cervical vertebral dysplasia  (IAGP)
Clumsiness  (IAGP)
CNS hypomyelination  (IAGP)
Confusion  (IAGP)
Congenital generalized lipodystrophy  (IAGP)
Congenital malformation of the left heart  (IAGP)
Congenital onset  (IAGP)
Convex nasal ridge  (IAGP)
Corneal opacity  (IAGP)
Cranial asymmetry  (IAGP)
Cryptorchidism  (IAGP)
Dandy-Walker malformation  (IAGP)
Deeply set eye  (IAGP)
Delayed closure of the anterior fontanelle  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed puberty  (IAGP)
Dermal translucency  (IAGP)
Developmental regression  (IAGP)
Dilatation of renal calices  (IAGP)
Downslanted palpebral fissures  (IAGP)
Downturned corners of mouth  (IAGP)
Drooling  (IAGP)
Dysarthria  (IAGP)
Dysmetria  (IAGP)
Dysphagia  (IAGP)
Dysplastic pulmonary valve  (IAGP)
Dystonia  (IAGP)
Ectropion  (IAGP)
Entropion  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Fever  (IAGP)
Flexion contracture  (IAGP)
Focal-onset seizure  (IAGP)
Frontal bossing  (IAGP)
Generalized amyotrophy  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Growth hormone deficiency  (IAGP)
Gynecomastia  (IAGP)
Hearing abnormality  (IAGP)
Hepatic steatosis  (IAGP)
High myoinositol in brain by MRS  (IAGP)
Hip dysplasia  (IAGP)
Hirsutism  (IAGP)
Hydrocephalus  (IAGP)
Hydronephrosis  (IAGP)
Hypergonadotropic hypogonadism  (IAGP)
Hypermetropia  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hyperthyroidism  (IAGP)
Hypertonia  (IAGP)
Hypertriglyceridemia  (IAGP)
Hypodontia  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplastic ilia  (IAGP)
Hypoplastic vertebral bodies  (IAGP)
Hypospadias  (IAGP)
Impaired distal proprioception  (IAGP)
Impaired vibration sensation in the lower limbs  (IAGP)
Increased circulating prolactin concentration  (IAGP)
Increased serum estradiol  (IAGP)
Increased serum testosterone level  (IAGP)
Increased subcutaneous truncal adipose tissue  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, moderate  (IAGP)
Intention tremor  (IAGP)
Intrauterine growth retardation  (IAGP)
Irregular sclerotic endplates  (IAGP)
Joint hypermobility  (IAGP)
Kyphoscoliosis  (IAGP)
Lagopthalmos  (IAGP)
Large beaked nose  (IAGP)
Large hands  (IAGP)
Laryngomalacia  (IAGP)
Leukodystrophy  (IAGP)
Limb hypertonia  (IAGP)
Lipoatrophy  (IAGP)
Long fingers  (IAGP)
Long foot  (IAGP)
Long penis  (IAGP)
Long toe  (IAGP)
Loss of facial adipose tissue  (IAGP)
Low-set ears  (IAGP)
Macrocephaly  (IAGP)
Malar flattening  (IAGP)
Micrognathia  (IAGP)
Muscle weakness  (IAGP)
Myalgia  (IAGP)
Myopia  (IAGP)
Narrow mouth  (IAGP)
Narrow nasal ridge  (IAGP)
Natal tooth  (IAGP)
Nystagmus  (IAGP)
Oligodontia  (IAGP)
Optic atrophy  (IAGP)
Optic disc hypoplasia  (IAGP)
Osteopenia  (IAGP)
Parietal bossing  (IAGP)
Peripheral neuropathy  (IAGP)
Pigmentary retinopathy  (IAGP)
Pointed chin  (IAGP)
Polymicrogyria  (IAGP)
Positive Romberg sign  (IAGP)
Posteriorly rotated ears  (IAGP)
Postural tremor  (IAGP)
Premature loss of teeth  (IAGP)
Premature skin wrinkling  (IAGP)
Progeroid facial appearance  (IAGP)
Progressive  (IAGP)
Prominent scalp veins  (IAGP)
Pulmonic stenosis  (IAGP)
Recurrent otitis media  (IAGP)
Recurrent respiratory infections  (IAGP)
Recurrent skin infections  (IAGP)
Recurrent urinary tract infections  (IAGP)
Reduced subcutaneous adipose tissue  (IAGP)
Relative macrocephaly  (IAGP)
Retrognathia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Severe intrauterine growth retardation  (IAGP)
Short femur  (IAGP)
Short humerus  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Skeletal muscle hypertrophy  (IAGP)
Slender build  (IAGP)
Small nail  (IAGP)
Sparse and thin eyebrow  (IAGP)
Sparse eyelashes  (IAGP)
Sparse hair  (IAGP)
Sparse scalp hair  (IAGP)
Spastic dysarthria  (IAGP)
Spasticity  (IAGP)
Submucous cleft soft palate  (IAGP)
Sudanophilic leukodystrophy  (IAGP)
Synophrys  (IAGP)
Synovitis  (IAGP)
Thickened calvaria  (IAGP)
Thin long bone diaphyses  (IAGP)
Thin ribs  (IAGP)
Thin skin  (IAGP)
Thin upper lip vermilion  (IAGP)
Triangular face  (IAGP)
Truncal ataxia  (IAGP)
Type II diabetes mellitus  (IAGP)
Upslanted palpebral fissure  (IAGP)
Vertical supranuclear gaze palsy  (IAGP)
Vesicoureteral reflux  (IAGP)
Wide nasal ridge  (IAGP)
Wide penis  (IAGP)
Widely patent fontanelles and sutures  (IAGP)
References

Additional References at PubMed
PMID:1403646   PMID:9331371   PMID:11416169   PMID:12384934   PMID:12477932   PMID:16055720   PMID:16344560   PMID:17283126   PMID:17643375   PMID:18029348   PMID:18187620   PMID:19176527  
PMID:19609254   PMID:19615732   PMID:19913121   PMID:19946888   PMID:20211142   PMID:20301317   PMID:20379614   PMID:20628086   PMID:21855841   PMID:21873635   PMID:22036171   PMID:22189167  
PMID:22855961   PMID:22939629   PMID:23355746   PMID:23602572   PMID:23643445   PMID:24107381   PMID:24337577   PMID:24501781   PMID:24912190   PMID:25339210   PMID:25921289   PMID:26011300  
PMID:26186194   PMID:26344197   PMID:26496610   PMID:26972000   PMID:27029625   PMID:27068803   PMID:27506977   PMID:27612211   PMID:27780869   PMID:27911719   PMID:28330616   PMID:28407788  
PMID:28459997   PMID:28488757   PMID:28514442   PMID:28561026   PMID:28695742   PMID:28700943   PMID:28783042   PMID:28846112   PMID:29229926   PMID:29467282   PMID:29507755   PMID:29728610  
PMID:29955894   PMID:29970461   PMID:30033366   PMID:30115567   PMID:30323018   PMID:30414627   PMID:30450527   PMID:30690919   PMID:30833792   PMID:30898877   PMID:30948266   PMID:31091453  
PMID:31438894   PMID:31637490   PMID:32066962   PMID:32198086   PMID:32600288   PMID:32877691  


Genomics

Comparative Map Data
POLR3A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1077,969,251 - 78,029,515 (-)EnsemblGRCh38hg38GRCh38
GRCh381077,975,149 - 78,029,515 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371079,734,907 - 79,789,298 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361079,405,900 - 79,459,265 (-)NCBINCBI36hg18NCBI36
Build 341079,405,911 - 79,459,265NCBI
Celera1073,021,499 - 73,075,893 (-)NCBI
Cytogenetic Map10q22.3NCBI
HuRef1073,729,855 - 73,784,226 (-)NCBIHuRef
CHM1_11080,017,697 - 80,072,040 (-)NCBICHM1_1
Polr3a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391424,498,762 - 24,537,126 (-)NCBIGRCm39mm39
GRCm381424,448,694 - 24,487,070 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1424,448,696 - 24,487,058 (-)EnsemblGRCm38mm10GRCm38
MGSCv371425,267,916 - 25,306,268 (-)NCBIGRCm37mm9NCBIm37
MGSCv361423,281,159 - 23,319,511 (-)NCBImm8
Celera1420,823,678 - 20,861,770 (-)NCBICelera
Cytogenetic Map14A3NCBI
Polr3a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.016717,821 - 756,002 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl16716,683 - 755,990 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.016712,735 - 750,910 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4164,090 - 42,301 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1164,027 - 40,227 (-)NCBI
Celera1636,720 - 74,901 (-)NCBICelera
Cytogenetic Map16p16NCBI
Polr3a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543714,446,024 - 14,483,336 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543714,446,059 - 14,483,336 (+)NCBIChiLan1.0ChiLan1.0
POLR3A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11077,157,976 - 77,213,019 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v01074,496,121 - 74,550,054 (-)NCBIMhudiblu_PPA_v0panPan3
POLR3A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl427,835,612 - 27,883,436 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1427,834,197 - 27,883,065 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Polr3a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365211,570,863 - 1,613,410 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
POLR3A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1480,410,147 - 80,471,700 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11480,410,143 - 80,471,740 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21486,944,625 - 87,003,270 (-)NCBISscrofa10.2Sscrofa10.2susScr3
POLR3A
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1953,411,869 - 53,462,773 (+)NCBI
ChlSab1.1 Ensembl953,411,889 - 53,464,668 (+)Ensembl
Polr3a
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475411,166,126 - 11,215,205 (-)NCBI

Position Markers
SHGC-5548  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371079,729,173 - 79,729,326UniSTSGRCh37
Build 361079,399,179 - 79,399,332RGDNCBI36
Celera1073,015,765 - 73,015,918RGD
Cytogenetic Map10q22-q23UniSTS
HuRef1073,724,122 - 73,724,275UniSTS
RH120039  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371079,787,947 - 79,788,226UniSTSGRCh37
Build 361079,457,953 - 79,458,232RGDNCBI36
Celera1073,074,542 - 73,074,821RGD
Cytogenetic Map10q22-q23UniSTS
HuRef1073,782,875 - 73,783,154UniSTS
TNG Radiation Hybrid Map1039266.0UniSTS
SHGC-132894  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371079,729,168 - 79,729,383UniSTSGRCh37
Build 361079,399,174 - 79,399,389RGDNCBI36
Celera1073,015,760 - 73,015,975RGD
Cytogenetic Map10q22-q23UniSTS
HuRef1073,724,117 - 73,724,332UniSTS
TNG Radiation Hybrid Map1039230.0UniSTS
STS-T70096  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371079,734,958 - 79,735,094UniSTSGRCh37
Build 361079,404,964 - 79,405,100RGDNCBI36
Celera1073,021,550 - 73,021,686RGD
Cytogenetic Map10q22-q23UniSTS
HuRef1073,729,906 - 73,730,042UniSTS
GeneMap99-GB4 RH Map10390.26UniSTS
NCBI RH Map10972.3UniSTS
STS-AA033874  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371079,734,963 - 79,735,209UniSTSGRCh37
Build 361079,404,969 - 79,405,215RGDNCBI36
Celera1073,021,555 - 73,021,801RGD
Cytogenetic Map10q22-q23UniSTS
GeneMap99-GB4 RH Map10382.26UniSTS
RPC155_3541  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371079,735,788 - 79,736,639UniSTSGRCh37
Build 361079,405,794 - 79,406,645RGDNCBI36
Celera1073,022,380 - 73,023,231RGD
HuRef1073,730,736 - 73,731,587UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1553
Count of miRNA genes:917
Interacting mature miRNAs:1064
Transcripts:ENST00000372371, ENST00000472014, ENST00000473588, ENST00000484760
Prediction methods:Miranda, 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 233 51 436 45 717 50 618 142 1222 120 525 383 9 10 305 2
Low 2206 2877 1290 578 1190 415 3738 2038 2508 299 935 1229 166 1 1194 2483 3 1
Below cutoff 61 44 17 4 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF021351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL512628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY091459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY091460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY091461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY091462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA449326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA103416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA353439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000372371   ⟹   ENSP00000361446
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1077,975,149 - 78,029,515 (-)Ensembl
RefSeq Acc Id: ENST00000472014
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1077,991,109 - 78,009,667 (-)Ensembl
RefSeq Acc Id: ENST00000473588   ⟹   ENSP00000473389
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1078,002,197 - 78,019,252 (-)Ensembl
RefSeq Acc Id: ENST00000484760
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1078,013,086 - 78,020,173 (-)Ensembl
RefSeq Acc Id: ENST00000616246   ⟹   ENSP00000483738
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1077,969,251 - 77,985,320 (-)Ensembl
RefSeq Acc Id: NM_007055   ⟹   NP_008986
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381077,975,149 - 78,029,515 (-)NCBI
GRCh371079,734,907 - 79,789,298 (-)RGD
Build 361079,405,900 - 79,459,265 (-)NCBI Archive
Celera1073,021,499 - 73,075,893 (-)RGD
HuRef1073,729,855 - 73,784,226 (-)ENTREZGENE
CHM1_11080,017,697 - 80,072,040 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_008986   ⟸   NM_007055
- UniProtKB: O14802 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000361446   ⟸   ENST00000372371
RefSeq Acc Id: ENSP00000483738   ⟸   ENST00000616246
RefSeq Acc Id: ENSP00000473389   ⟸   ENST00000473588
Protein Domains
RNA_pol_Rpb1_5   RPOLA_N

Promoters
RGD ID:7217943
Promoter ID:EPDNEW_H14718
Type:initiation region
Name:POLR3A_1
Description:RNA polymerase III subunit A
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
GRCh381078,029,515 - 78,029,575EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_007055.4(POLR3A):c.1771-7C>G single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000787963]|not provided [RCV000522489] Chr10:78009682 [GRCh38]
Chr10:79769440 [GRCh37]
Chr10:10q22.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_007055.4(POLR3A):c.2015G>A (p.Gly672Glu) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000024139] Chr10:78007761 [GRCh38]
Chr10:79767519 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.1909+18G>A single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000024140]|Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000754389]|not provided [RCV000224081] Chr10:78009519 [GRCh38]
Chr10:79769277 [GRCh37]
Chr10:10q22.3
pathogenic|likely pathogenic
NM_007055.3(POLR3A):c.2554A>G single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000024141]|not provided [RCV000413750] Chr10:78000043 [GRCh38]
Chr10:79759801 [GRCh37]
Chr10:10q22.3
pathogenic|likely pathogenic
NM_007055.4(POLR3A):c.2617-1G>A single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000024142]|Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000754391]|not provided [RCV000384524] Chr10:77993368 [GRCh38]
Chr10:79753126 [GRCh37]
Chr10:10q22.3
pathogenic|likely pathogenic
NM_007055.4(POLR3A):c.418C>T (p.Arg140Ter) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000024143]|not provided [RCV001268853] Chr10:78025043 [GRCh38]
Chr10:79784801 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.2690T>A (p.Ile897Asn) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000024144] Chr10:77993294 [GRCh38]
Chr10:79753052 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.3013C>T (p.Arg1005Cys) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000024145] Chr10:77985961 [GRCh38]
Chr10:79745719 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.1114G>A (p.Asp372Asn) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000034140] Chr10:78021617 [GRCh38]
Chr10:79781375 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.1674C>G (p.Phe558Leu) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000034141] Chr10:78009960 [GRCh38]
Chr10:79769718 [GRCh37]
Chr10:10q22.3
pathogenic|uncertain significance
NM_007055.4(POLR3A):c.1907C>A (p.Ser636Tyr) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000034142] Chr10:78009539 [GRCh38]
Chr10:79769297 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.2171G>A (p.Cys724Tyr) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000034143] Chr10:78004792 [GRCh38]
Chr10:79764550 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.2324A>T (p.Asn775Ile) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000034144] Chr10:78002232 [GRCh38]
Chr10:79761990 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.2830G>T (p.Glu944Ter) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000034145] Chr10:77991125 [GRCh38]
Chr10:79750883 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.3014G>A (p.Arg1005His) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000034146] Chr10:77985960 [GRCh38]
Chr10:79745718 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.3742_3743insACC (p.Ser1248delinsTyrPro) insertion Hypomyelinating leukodystrophy 7 [RCV000034147] Chr10:77982170..77982171 [GRCh38]
Chr10:79741928..79741929 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.3991G>A (p.Ala1331Thr) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000034148] Chr10:77980174 [GRCh38]
Chr10:79739932 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.4006C>T (p.Gln1336Ter) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000034149] Chr10:77980159 [GRCh38]
Chr10:79739917 [GRCh37]
Chr10:10q22.3
pathogenic
GRCh38/hg38 10q22.3(chr10:77791298-78077947)x3 copy number gain See cases [RCV000051628] Chr10:77791298..78077947 [GRCh38]
Chr10:79551056..79837705 [GRCh37]
Chr10:79221062..79507711 [NCBI36]
Chr10:10q22.3
uncertain significance
NM_007055.3(POLR3A):c.4066G>A (p.Gly1356Arg) single nucleotide variant Malignant melanoma [RCV000069046] Chr10:77977585 [GRCh38]
Chr10:79737343 [GRCh37]
Chr10:79407349 [NCBI36]
Chr10:10q22.3
not provided
NM_007055.4(POLR3A):c.1745G>T (p.Arg582Leu) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001108263]|not provided [RCV000889344]|not specified [RCV000118024] Chr10:78009889 [GRCh38]
Chr10:79769647 [GRCh37]
Chr10:10q22.3
benign|likely benign
GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 copy number gain See cases [RCV000135438] Chr10:67196567..79422057 [GRCh38]
Chr10:68956325..81181813 [GRCh37]
Chr10:68626331..80851819 [NCBI36]
Chr10:10q21.3-22.3
pathogenic
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 copy number gain See cases [RCV000138007] Chr10:50729367..87147204 [GRCh38]
Chr10:52489127..88906961 [GRCh37]
Chr10:52159133..88896941 [NCBI36]
Chr10:10q11.23-23.2
pathogenic
NM_007055.4(POLR3A):c.927C>T (p.Asp309=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001104983]|not provided [RCV000891282]|not specified [RCV000193190] Chr10:78021981 [GRCh38]
Chr10:79781739 [GRCh37]
Chr10:10q22.3
benign|likely benign|uncertain significance
NM_007055.4(POLR3A):c.2938A>G (p.Ile980Val) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000315210]|not provided [RCV000425769]|not specified [RCV000195147] Chr10:77986123 [GRCh38]
Chr10:79745881 [GRCh37]
Chr10:10q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007055.4(POLR3A):c.3436G>A (p.Ala1146Thr) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000185529]|not provided [RCV000969901] Chr10:77982811 [GRCh38]
Chr10:79742569 [GRCh37]
Chr10:10q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007055.4(POLR3A):c.1740dup (p.Val581fs) duplication not provided [RCV000292592] Chr10:78009893..78009894 [GRCh38]
Chr10:79769651..79769652 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.1572+1G>A single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000757952] Chr10:78013649 [GRCh38]
Chr10:79773407 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.3243-2A>G single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000757953] Chr10:77984300 [GRCh38]
Chr10:79744058 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.2617C>T (p.Arg873Ter) single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000755662]|not provided [RCV000224488] Chr10:77993367 [GRCh38]
Chr10:79753125 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.3280G>A (p.Asp1094Asn) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000284592]|not provided [RCV000498635] Chr10:77984261 [GRCh38]
Chr10:79744019 [GRCh37]
Chr10:10q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_007055.4(POLR3A):c.1369G>A (p.Gly457Arg) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000302337] Chr10:78017637 [GRCh38]
Chr10:79777395 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1763G>A single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000320952] Chr10:77975715 [GRCh38]
Chr10:79735473 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.*1219T>A single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000343688] Chr10:77976259 [GRCh38]
Chr10:79736017 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1771-6C>A single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000394864] Chr10:78009681 [GRCh38]
Chr10:79769439 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.*272G>C single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000345486] Chr10:77977206 [GRCh38]
Chr10:79736964 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.*469T>C single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000346496] Chr10:77977009 [GRCh38]
Chr10:79736767 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1566G>T (p.Leu522=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000346563]|not provided [RCV000969587] Chr10:78013656 [GRCh38]
Chr10:79773414 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.3846C>T (p.Ile1282=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000370262]|not provided [RCV000972270] Chr10:77981473 [GRCh38]
Chr10:79741231 [GRCh37]
Chr10:10q22.3
benign|uncertain significance
NM_007055.4(POLR3A):c.*989G>A single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000303733] Chr10:77976489 [GRCh38]
Chr10:79736247 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2100C>T (p.Ile700=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000323825] Chr10:78004863 [GRCh38]
Chr10:79764621 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.3351T>A (p.Ile1117=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000324269]|not provided [RCV000970462] Chr10:77983998 [GRCh38]
Chr10:79743756 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.2976C>T (p.Asn992=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000398803] Chr10:77986085 [GRCh38]
Chr10:79745843 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3594+15G>A single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000325450] Chr10:77982638 [GRCh38]
Chr10:79742396 [GRCh37]
Chr10:10q22.3
benign|uncertain significance
NM_007055.4(POLR3A):c.*813A>G single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000373477] Chr10:77976665 [GRCh38]
Chr10:79736423 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.*272G>A single nucleotide variant Pol III-related leukodystrophy [RCV000400292] Chr10:77977206 [GRCh38]
Chr10:79736964 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*345A>C single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000288210] Chr10:77977133 [GRCh38]
Chr10:79736891 [GRCh37]
Chr10:10q22.3
benign|uncertain significance
NM_007055.4(POLR3A):c.*136C>T single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000305921] Chr10:77977342 [GRCh38]
Chr10:79737100 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.2433C>T (p.Asp811=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000327321] Chr10:78001021 [GRCh38]
Chr10:79760779 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1771-5del deletion Pol III-related leukodystrophy [RCV000349353]|not provided [RCV000593957] Chr10:78009680 [GRCh38]
Chr10:79769438 [GRCh37]
Chr10:10q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_007055.4(POLR3A):c.*1342del deletion Pol III-related leukodystrophy [RCV000350350] Chr10:77976136 [GRCh38]
Chr10:79735894 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2472C>T (p.His824=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000272385]|not provided [RCV000973193] Chr10:78000982 [GRCh38]
Chr10:79760740 [GRCh37]
Chr10:10q22.3
benign|likely benign|uncertain significance
NM_007055.4(POLR3A):c.*1853C>T single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000272496] Chr10:77975625 [GRCh38]
Chr10:79735383 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.3645C>T (p.Asp1215=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000272710]|not provided [RCV000965808] Chr10:77982268 [GRCh38]
Chr10:79742026 [GRCh37]
Chr10:10q22.3
benign|uncertain significance
NM_007055.4(POLR3A):c.156A>G (p.Leu52=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000289062] Chr10:78026118 [GRCh38]
Chr10:79785876 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*2205T>G single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000289422] Chr10:77975273 [GRCh38]
Chr10:79735031 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1718G>C single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000377860] Chr10:77975760 [GRCh38]
Chr10:79735518 [GRCh37]
Chr10:10q22.3
benign|uncertain significance
NM_007055.4(POLR3A):c.318+13G>C single nucleotide variant Pol III-related leukodystrophy [RCV000273370] Chr10:78025609 [GRCh38]
Chr10:79785367 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3734G>A (p.Arg1245Gln) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000273448]|not provided [RCV000906740] Chr10:77982179 [GRCh38]
Chr10:79741937 [GRCh37]
Chr10:10q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007055.4(POLR3A):c.2604G>A (p.Thr868=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000307650]|not provided [RCV000912400] Chr10:77999993 [GRCh38]
Chr10:79759751 [GRCh37]
Chr10:10q22.3
benign|likely benign|uncertain significance
NM_007055.4(POLR3A):c.726A>G (p.Pro242=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000353130] Chr10:78022304 [GRCh38]
Chr10:79782062 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.4002C>T (p.Phe1334=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000353048] Chr10:77980163 [GRCh38]
Chr10:79739921 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*90G>A single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000400959] Chr10:77977388 [GRCh38]
Chr10:79737146 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1303C>T single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000309919] Chr10:77976175 [GRCh38]
Chr10:79735933 [GRCh37]
Chr10:10q22.3
benign|uncertain significance
NM_007055.4(POLR3A):c.3697C>A (p.Arg1233=) single nucleotide variant Pol III-related leukodystrophy [RCV000331236] Chr10:77982216 [GRCh38]
Chr10:79741974 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*2134C>A single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000379851] Chr10:77975344 [GRCh38]
Chr10:79735102 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1323C>T single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000401499] Chr10:77976155 [GRCh38]
Chr10:79735913 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.3242+8C>G single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000401883]|not provided [RCV000897010] Chr10:77985162 [GRCh38]
Chr10:79744920 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.*1965A>G single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000401996] Chr10:77975513 [GRCh38]
Chr10:79735271 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.1642+9G>C single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000310422] Chr10:78010462 [GRCh38]
Chr10:79770220 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.240A>C (p.Leu80=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000333229] Chr10:78025700 [GRCh38]
Chr10:79785458 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.*936T>G single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000356312] Chr10:77976542 [GRCh38]
Chr10:79736300 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3594+11A>C single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000382146] Chr10:77982642 [GRCh38]
Chr10:79742400 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.*690C>T single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000276764] Chr10:77976788 [GRCh38]
Chr10:79736546 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.*1448A>G single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000293036] Chr10:77976030 [GRCh38]
Chr10:79735788 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.*470G>A single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000294028] Chr10:77977008 [GRCh38]
Chr10:79736766 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.*1867A>G single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000312618] Chr10:77975611 [GRCh38]
Chr10:79735369 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1953G>A single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000334358] Chr10:77975525 [GRCh38]
Chr10:79735283 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*673A>G single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000334162] Chr10:77976805 [GRCh38]
Chr10:79736563 [GRCh37]
Chr10:10q22.3
benign|uncertain significance
NM_007055.4(POLR3A):c.*1695G>A single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000262168] Chr10:77975783 [GRCh38]
Chr10:79735541 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.1771-4T>C single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000294461] Chr10:78009679 [GRCh38]
Chr10:79769437 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3858C>T (p.His1286=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000313358]|not provided [RCV000914841] Chr10:77981461 [GRCh38]
Chr10:79741219 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.*1924G>A single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000313281] Chr10:77975554 [GRCh38]
Chr10:79735312 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.2997G>T (p.Val999=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000336216] Chr10:77985977 [GRCh38]
Chr10:79745735 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.2394T>C (p.Cys798=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000358798] Chr10:78001060 [GRCh38]
Chr10:79760818 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.*426C>T single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000384779] Chr10:77977052 [GRCh38]
Chr10:79736810 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.701A>T (p.Asp234Val) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000262907] Chr10:78022329 [GRCh38]
Chr10:79782087 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3036A>G (p.Glu1012=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000278704]|not provided [RCV000900636] Chr10:77985938 [GRCh38]
Chr10:79745696 [GRCh37]
Chr10:10q22.3
benign|likely benign|uncertain significance
NM_007055.4(POLR3A):c.2031A>G (p.Ala677=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000279101] Chr10:78007745 [GRCh38]
Chr10:79767503 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.1724A>T (p.Lys575Met) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000295587]|not provided [RCV000514179] Chr10:78009910 [GRCh38]
Chr10:79769668 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.3279C>T (p.Asp1093=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000337314]|not provided [RCV000972271] Chr10:77984262 [GRCh38]
Chr10:79744020 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.*620G>A single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000386002] Chr10:77976858 [GRCh38]
Chr10:79736616 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.481G>A (p.Ala161Thr) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000386514] Chr10:78024980 [GRCh38]
Chr10:79784738 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*920T>C single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000263893] Chr10:77976558 [GRCh38]
Chr10:79736316 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.*1589G>A single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000279968] Chr10:77975889 [GRCh38]
Chr10:79735647 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.2580C>T (p.Asp860=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000362306]|not provided [RCV000919429] Chr10:78000017 [GRCh38]
Chr10:79759775 [GRCh37]
Chr10:10q22.3
benign|likely benign|uncertain significance
NM_007055.4(POLR3A):c.2286C>T (p.His762=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000264060] Chr10:78002270 [GRCh38]
Chr10:79762028 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.741G>A (p.Pro247=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000298275]|not provided [RCV000952949] Chr10:78022289 [GRCh38]
Chr10:79782047 [GRCh37]
Chr10:10q22.3
benign|likely benign|uncertain significance
NM_007055.4(POLR3A):c.*883T>A single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000316485] Chr10:77976595 [GRCh38]
Chr10:79736353 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.*135G>T single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000340365] Chr10:77977343 [GRCh38]
Chr10:79737101 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.*2039C>T single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000340439] Chr10:77975439 [GRCh38]
Chr10:79735197 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.*1782G>A single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000363619] Chr10:77975696 [GRCh38]
Chr10:79735454 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.3660G>A (p.Lys1220=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000364842]|not provided [RCV000881909] Chr10:77982253 [GRCh38]
Chr10:79742011 [GRCh37]
Chr10:10q22.3
benign|likely benign|uncertain significance
NM_007055.4(POLR3A):c.*1862G>A single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000364933] Chr10:77975616 [GRCh38]
Chr10:79735374 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.*1461A>G single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000389610] Chr10:77976017 [GRCh38]
Chr10:79735775 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.*1953G>C single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000281706] Chr10:77975525 [GRCh38]
Chr10:79735283 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.621G>A (p.Val207=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000318121]|not provided [RCV000948845] Chr10:78024573 [GRCh38]
Chr10:79784331 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.3990C>T (p.Asp1330=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000391325] Chr10:77980175 [GRCh38]
Chr10:79739933 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1771_*1780del deletion Pol III-related leukodystrophy [RCV000266759] Chr10:77975698..77975707 [GRCh38]
Chr10:79735456..79735465 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*2073C>A single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000283050] Chr10:77975405 [GRCh38]
Chr10:79735163 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1680C>G single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000319684] Chr10:77975798 [GRCh38]
Chr10:79735556 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.1901A>G (p.Asn634Ser) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000320188] Chr10:78009545 [GRCh38]
Chr10:79769303 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2898G>A (p.Leu966=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000367603] Chr10:77991057 [GRCh38]
Chr10:79750815 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.*1015T>C single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000265026] Chr10:77976463 [GRCh38]
Chr10:79736221 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.491-2A>G single nucleotide variant not provided [RCV000380107] Chr10:78024705 [GRCh38]
Chr10:79784463 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.876T>A (p.Val292=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000267196] Chr10:78022154 [GRCh38]
Chr10:79781912 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2653C>T (p.Gln885Ter) single nucleotide variant not provided [RCV000489387] Chr10:77993331 [GRCh38]
Chr10:79753089 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.1683A>G (p.Arg561=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000345415] Chr10:78009951 [GRCh38]
Chr10:79769709 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1041A>C (p.Gly347=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000361748] Chr10:78021867 [GRCh38]
Chr10:79781625 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1945G>A single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000398759] Chr10:77975533 [GRCh38]
Chr10:79735291 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_033022.3(RPS24):c.-8T>G single nucleotide variant Diamond-Blackfan anemia 3 [RCV001103178]|Diamond-Blackfan anemia [RCV000305511]|Pol III-related leukodystrophy [RCV000329929]|not specified [RCV000500183] Chr10:78033894 [GRCh38]
Chr10:79793652 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.*1159C>T single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000303915] Chr10:77976319 [GRCh38]
Chr10:79736077 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1649A>G (p.Tyr550Cys) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000402047] Chr10:78009985 [GRCh38]
Chr10:79769743 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.-35C>G single nucleotide variant Diamond-Blackfan anemia [RCV000319492]|Hypomyelinating leukodystrophy 7 [RCV001108351] Chr10:78029442 [GRCh38]
Chr10:79789200 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.*1825T>G single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000306572] Chr10:77975653 [GRCh38]
Chr10:79735411 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.-103T>A single nucleotide variant Diamond-Blackfan anemia [RCV000355569]|Hypomyelinating leukodystrophy 7 [RCV001108352]|Pol III-related leukodystrophy [RCV000344073] Chr10:78029510 [GRCh38]
Chr10:79789268 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.163G>A (p.Val55Met) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000387714] Chr10:78026111 [GRCh38]
Chr10:79785869 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2809G>A (p.Glu937Lys) single nucleotide variant not provided [RCV000584844] Chr10:77991146 [GRCh38]
Chr10:79750904 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1569C>T single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000351424] Chr10:77975909 [GRCh38]
Chr10:79735667 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1207T>C single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000407862] Chr10:77976271 [GRCh38]
Chr10:79736029 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1432-12T>G single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000407931] Chr10:78013802 [GRCh38]
Chr10:79773560 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1873C>T single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000370753] Chr10:77975605 [GRCh38]
Chr10:79735363 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*2190G>C single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000323395] Chr10:77975288 [GRCh38]
Chr10:79735046 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1640del deletion Pol III-related leukodystrophy [RCV000372239] Chr10:77975838 [GRCh38]
Chr10:79735596 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2074+9C>G single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000373628] Chr10:78007693 [GRCh38]
Chr10:79767451 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2617-6C>T single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000391602] Chr10:77993373 [GRCh38]
Chr10:79753131 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_033022.3(RPS24):c.-109A>G single nucleotide variant Diamond-Blackfan anemia 3 [RCV001108353]|Diamond-Blackfan anemia [RCV000290077]|Pol III-related leukodystrophy [RCV000274775] Chr10:78033793 [GRCh38]
Chr10:79793551 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.1781T>G (p.Leu594Arg) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000374853] Chr10:78009665 [GRCh38]
Chr10:79769423 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1869C>T single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000393879] Chr10:77975609 [GRCh38]
Chr10:79735367 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.4024+11T>G single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000300561] Chr10:77980130 [GRCh38]
Chr10:79739888 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3336G>A (p.Glu1112=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000376506] Chr10:77984205 [GRCh38]
Chr10:79743963 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1100G>T single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000361008] Chr10:77976378 [GRCh38]
Chr10:79736136 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2074+2dup duplication not provided [RCV000591853] Chr10:78007699..78007700 [GRCh38]
Chr10:79767457..79767458 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1930G>A (p.Glu644Lys) single nucleotide variant not provided [RCV000414392] Chr10:78007846 [GRCh38]
Chr10:79767604 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.1745G>A (p.Arg582His) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000988395]|not provided [RCV000431340] Chr10:78009889 [GRCh38]
Chr10:79769647 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.171C>G (p.Asp57Glu) single nucleotide variant not provided [RCV000431344] Chr10:78026103 [GRCh38]
Chr10:79785861 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.2741G>A (p.Gly914Glu) single nucleotide variant not provided [RCV000441182] Chr10:77993243 [GRCh38]
Chr10:79753001 [GRCh37]
Chr10:10q22.3
likely pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_007055.4(POLR3A):c.3337-5T>A single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000755669]|not provided [RCV000498819] Chr10:77984017 [GRCh38]
Chr10:79743775 [GRCh37]
Chr10:10q22.3
pathogenic|likely pathogenic
NM_007055.4(POLR3A):c.3243-1G>A single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000500589] Chr10:77984299 [GRCh38]
Chr10:79744057 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.2119C>T (p.Gln707Ter) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000845267]|not provided [RCV000494591] Chr10:78004844 [GRCh38]
Chr10:79764602 [GRCh37]
Chr10:10q22.3
pathogenic|likely pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss PARP Inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
NM_007055.4(POLR3A):c.1909+22G>A single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000988394]|Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000754390]|POLR3A-related neurological disorders [RCV001249723]|not provided [RCV000514925] Chr10:78009515 [GRCh38]
Chr10:79769273 [GRCh37]
Chr10:10q22.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_007055.4(POLR3A):c.3597G>T (p.Val1199=) single nucleotide variant not specified [RCV000613682] Chr10:77982316 [GRCh38]
Chr10:79742074 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.4057A>G (p.Met1353Val) single nucleotide variant not provided [RCV000596117] Chr10:77977594 [GRCh38]
Chr10:79737352 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1682G>A (p.Arg561Gln) single nucleotide variant not provided [RCV000658106] Chr10:78009952 [GRCh38]
Chr10:79769710 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1572+5G>A single nucleotide variant not provided [RCV000658107] Chr10:78013645 [GRCh38]
Chr10:79773403 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1847A>C (p.Asn616Thr) single nucleotide variant not provided [RCV000658182] Chr10:78009599 [GRCh38]
Chr10:79769357 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1390C>T (p.Arg464Trp) single nucleotide variant not provided [RCV000658181] Chr10:78017616 [GRCh38]
Chr10:79777374 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3562G>A (p.Val1188Met) single nucleotide variant not provided [RCV000658180] Chr10:77982685 [GRCh38]
Chr10:79742443 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2287G>A (p.Ala763Thr) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000714789] Chr10:78002269 [GRCh38]
Chr10:79762027 [GRCh37]
Chr10:10q22.3
uncertain significance
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 copy number gain not provided [RCV000683289] Chr10:69040366..93194993 [GRCh37]
Chr10:10q21.3-23.32
pathogenic
NM_007055.4(POLR3A):c.2471A>C (p.His824Pro) single nucleotide variant Leukodystrophy, hypomyelinating, 4 [RCV000722140] Chr10:78000983 [GRCh38]
Chr10:79760741 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.3337-1G>A single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000755670] Chr10:77984013 [GRCh38]
Chr10:79743771 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter) single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000755668]|not provided [RCV000760689] Chr10:78007771 [GRCh38]
Chr10:79767529 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter) single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000755671]|not provided [RCV000994469] Chr10:78022270 [GRCh38]
Chr10:79782028 [GRCh37]
Chr10:10q22.3
pathogenic|likely pathogenic
POLR3A, IVS14, G-A, +22 (rs191875469) AND IVS25, T-C, -11 single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000755664] Chr10:10q22.3 pathogenic
NM_007055.4(POLR3A):c.3206G>A (p.Arg1069Gln) single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000754380] Chr10:77985206 [GRCh38]
Chr10:79744964 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.3392A>G (p.Lys1131Arg) single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000754394] Chr10:77983957 [GRCh38]
Chr10:79743715 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.3874G>A (p.Asp1292Asn) single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000754393] Chr10:77981445 [GRCh38]
Chr10:79741203 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.4003G>A (p.Gly1335Arg) single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000754392] Chr10:77980162 [GRCh38]
Chr10:79739920 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.2707G>A (p.Gly903Arg) single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000754388] Chr10:77993277 [GRCh38]
Chr10:79753035 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.3G>T (p.Met1Ile) single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000754387] Chr10:78029405 [GRCh38]
Chr10:79789163 [GRCh37]
Chr10:10q22.3
pathogenic|likely pathogenic
NM_007055.4(POLR3A):c.*18C>T single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000754386] Chr10:77977460 [GRCh38]
Chr10:79737218 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.3770_3771CT[1] (p.Leu1258fs) microsatellite Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000754385] Chr10:77981546..77981547 [GRCh38]
Chr10:79741304..79741305 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.1800C>T (p.Ile600=) single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000754384] Chr10:78009646 [GRCh38]
Chr10:79769404 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.2474C>G (p.Ser825Ter) single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000754383] Chr10:78000980 [GRCh38]
Chr10:79760738 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.1048+5G>T single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000754382] Chr10:78021855 [GRCh38]
Chr10:79781613 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.3337-11T>C single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000754381] Chr10:77984023 [GRCh38]
Chr10:79743781 [GRCh37]
Chr10:10q22.3
pathogenic|likely pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_007055.4(POLR3A):c.2075-4A>C single nucleotide variant not provided [RCV000916198] Chr10:78004892 [GRCh38]
Chr10:79764650 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3309G>A (p.Gly1103=) single nucleotide variant not provided [RCV000977756] Chr10:77984232 [GRCh38]
Chr10:79743990 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3644A>G (p.Asp1215Gly) single nucleotide variant not provided [RCV000761733] Chr10:77982269 [GRCh38]
Chr10:79742027 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3596T>G (p.Val1199Gly) single nucleotide variant not provided [RCV000761734] Chr10:77982317 [GRCh38]
Chr10:79742075 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1895G>A (p.Cys632Tyr) single nucleotide variant not provided [RCV000761735] Chr10:78009551 [GRCh38]
Chr10:79769309 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.490+1G>A single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000757951] Chr10:78024970 [GRCh38]
Chr10:79784728 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.2790A>C (p.Ala930=) single nucleotide variant not provided [RCV000921239] Chr10:77991165 [GRCh38]
Chr10:79750923 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1771-6C>T single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001108260]|not provided [RCV000972272] Chr10:78009681 [GRCh38]
Chr10:79769439 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.1771-7C>A single nucleotide variant not provided [RCV000971117] Chr10:78009682 [GRCh38]
Chr10:79769440 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2217G>A (p.Gln739=) single nucleotide variant not provided [RCV000920052] Chr10:78004746 [GRCh38]
Chr10:79764504 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.795C>T (p.Ser265=) single nucleotide variant not provided [RCV000926032] Chr10:78022235 [GRCh38]
Chr10:79781993 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.396C>T (p.Pro132=) single nucleotide variant not provided [RCV000881159] Chr10:78025065 [GRCh38]
Chr10:79784823 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2136C>T (p.Ala712=) single nucleotide variant not provided [RCV000970463] Chr10:78004827 [GRCh38]
Chr10:79764585 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2229T>C (p.Thr743=) single nucleotide variant not provided [RCV000924096] Chr10:78004734 [GRCh38]
Chr10:79764492 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3987T>C (p.Phe1329=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001102872]|not provided [RCV000947264] Chr10:77980178 [GRCh38]
Chr10:79739936 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.495C>T (p.Thr165=) single nucleotide variant not provided [RCV000919881] Chr10:78024699 [GRCh38]
Chr10:79784457 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1113C>T (p.Pro371=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001104981]|not provided [RCV000903855] Chr10:78021618 [GRCh38]
Chr10:79781376 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.2344C>T (p.Leu782=) single nucleotide variant not provided [RCV000922211] Chr10:78002212 [GRCh38]
Chr10:79761970 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.606A>G (p.Glu202=) single nucleotide variant not provided [RCV000901381] Chr10:78024588 [GRCh38]
Chr10:79784346 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.870C>T (p.Asn290=) single nucleotide variant not provided [RCV000983360] Chr10:78022160 [GRCh38]
Chr10:79781918 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.4126C>A (p.Pro1376Thr) single nucleotide variant not provided [RCV000901465] Chr10:77977525 [GRCh38]
Chr10:79737283 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1910-4C>T single nucleotide variant not provided [RCV000922703] Chr10:78007870 [GRCh38]
Chr10:79767628 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2349C>T (p.Cys783=) single nucleotide variant not provided [RCV000924670] Chr10:78002207 [GRCh38]
Chr10:79761965 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.4071C>T (p.Thr1357=) single nucleotide variant not provided [RCV000881476] Chr10:77977580 [GRCh38]
Chr10:79737338 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.2196C>T (p.Asn732=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001104878]|not provided [RCV000962023] Chr10:78004767 [GRCh38]
Chr10:79764525 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.3585T>C (p.Asp1195=) single nucleotide variant not provided [RCV000933005] Chr10:77982662 [GRCh38]
Chr10:79742420 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3462C>T (p.Cys1154=) single nucleotide variant not provided [RCV000933038] Chr10:77982785 [GRCh38]
Chr10:79742543 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1575T>G (p.Thr525=) single nucleotide variant not provided [RCV000920595] Chr10:78010538 [GRCh38]
Chr10:79770296 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.1122C>T (p.Asn374=) single nucleotide variant not provided [RCV000919634] Chr10:78021609 [GRCh38]
Chr10:79781367 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2334C>T (p.Leu778=) single nucleotide variant not provided [RCV000881477] Chr10:78002222 [GRCh38]
Chr10:79761980 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.3264G>A (p.Gln1088=) single nucleotide variant not provided [RCV000966386] Chr10:77984277 [GRCh38]
Chr10:79744035 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3861G>T (p.Val1287=) single nucleotide variant not provided [RCV000928914] Chr10:77981458 [GRCh38]
Chr10:79741216 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.601del (p.Ile201fs) deletion Hypomyelinating leukodystrophy 7 [RCV000845270]|not provided [RCV001009158] Chr10:78024593 [GRCh38]
Chr10:79784351 [GRCh37]
Chr10:10q22.3
pathogenic
NC_000010.11:g.78009682G>C single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000845272]   pathogenic
NM_007055.4(POLR3A):c.1051C>T (p.Arg351Ter) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000845269] Chr10:78021680 [GRCh38]
Chr10:79781438 [GRCh37]
Chr10:10q22.3
pathogenic
GRCh37/hg19 10q22.3(chr10:79783761-79813801)x3 copy number gain not provided [RCV000848827] Chr10:79783761..79813801 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2325C>G (p.Asn775Lys) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000791242] Chr10:78002231 [GRCh38]
Chr10:79761989 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.4126C>T (p.Pro1376Ser) single nucleotide variant not provided [RCV001091329] Chr10:77977525 [GRCh38]
Chr10:79737283 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2025del (p.Ala676fs) deletion not provided [RCV001091332] Chr10:78007751 [GRCh38]
Chr10:79767509 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.1681C>T (p.Arg561Ter) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000845268] Chr10:78009953 [GRCh38]
Chr10:79769711 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.3583del (p.Asp1195fs) deletion Hypomyelinating leukodystrophy 7 [RCV000845271] Chr10:77982664 [GRCh38]
Chr10:79742422 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.2402A>C (p.Gln801Pro) single nucleotide variant not provided [RCV001091331] Chr10:78001052 [GRCh38]
Chr10:79760810 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1400C>T (p.Ser467Leu) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000787962] Chr10:78017606 [GRCh38]
Chr10:79777364 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1227A>G (p.Gln409=) single nucleotide variant not provided [RCV000914200] Chr10:78019224 [GRCh38]
Chr10:79778982 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.2247+8C>T single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001104877]|not provided [RCV000959115] Chr10:78004708 [GRCh38]
Chr10:79764466 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.2422C>T (p.Arg808Ter) single nucleotide variant not provided [RCV000994467] Chr10:78001032 [GRCh38]
Chr10:79760790 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.3291T>G (p.Tyr1097Ter) single nucleotide variant not provided [RCV001008019] Chr10:77984250 [GRCh38]
Chr10:79744008 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.3593A>G (p.Lys1198Arg) single nucleotide variant not provided [RCV000991194] Chr10:77982654 [GRCh38]
Chr10:79742412 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2359G>A (p.Gly787Ser) single nucleotide variant not provided [RCV000994468] Chr10:78002197 [GRCh38]
Chr10:79761955 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.641C>T (p.Ala214Val) single nucleotide variant not provided [RCV000994470] Chr10:78024553 [GRCh38]
Chr10:79784311 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*910G>A single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001104681] Chr10:77976568 [GRCh38]
Chr10:79736326 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1339A>C single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001107992] Chr10:77976139 [GRCh38]
Chr10:79735897 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.774T>C (p.Pro258=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001104985] Chr10:78022256 [GRCh38]
Chr10:79782014 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1770+6T>C single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001108262] Chr10:78009858 [GRCh38]
Chr10:79769616 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1409A>G (p.Lys470Arg) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001103069] Chr10:78017597 [GRCh38]
Chr10:79777355 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3901C>T (p.Leu1301=) single nucleotide variant not provided [RCV000918658] Chr10:77980264 [GRCh38]
Chr10:79740022 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.3822C>T (p.Thr1274=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001104793]|not provided [RCV000910540] Chr10:77981497 [GRCh38]
Chr10:79741255 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.2886G>A (p.Gln962=) single nucleotide variant not provided [RCV000979300] Chr10:77991069 [GRCh38]
Chr10:79750827 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.438C>T (p.Ile146=) single nucleotide variant not provided [RCV000947265] Chr10:78025023 [GRCh38]
Chr10:79784781 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.1110G>A (p.Ser370=) single nucleotide variant not provided [RCV000932382] Chr10:78021621 [GRCh38]
Chr10:79781379 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1716G>T (p.Leu572=) single nucleotide variant not provided [RCV000896749] Chr10:78009918 [GRCh38]
Chr10:79769676 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3021C>T (p.Thr1007=) single nucleotide variant not provided [RCV000886180] Chr10:77985953 [GRCh38]
Chr10:79745711 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1771-7C>T single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001108261]|not provided [RCV000886797] Chr10:78009682 [GRCh38]
Chr10:79769440 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.2799G>A (p.Pro933=) single nucleotide variant not provided [RCV000916973] Chr10:77991156 [GRCh38]
Chr10:79750914 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1302C>T (p.Tyr434=) single nucleotide variant not provided [RCV000917019] Chr10:78017704 [GRCh38]
Chr10:79777462 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3342C>T (p.Ser1114=) single nucleotide variant not provided [RCV000906159] Chr10:77984007 [GRCh38]
Chr10:79743765 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1278G>A (p.Thr426=) single nucleotide variant not provided [RCV000931359] Chr10:78019173 [GRCh38]
Chr10:79778931 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.186G>A (p.Thr62=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001106140]|not provided [RCV000887678] Chr10:78025754 [GRCh38]
Chr10:79785512 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.3388G>A (p.Val1130Ile) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001007775] Chr10:77983961 [GRCh38]
Chr10:79743719 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1585C>T single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001107340] Chr10:77975893 [GRCh38]
Chr10:79735651 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*344C>T single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001108084] Chr10:77977134 [GRCh38]
Chr10:79736892 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*339A>G single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001108085] Chr10:77977139 [GRCh38]
Chr10:79736897 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.*308A>T single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001108086] Chr10:77977170 [GRCh38]
Chr10:79736928 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*201G>A single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001108088] Chr10:77977277 [GRCh38]
Chr10:79737035 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.*150G>C single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001108089] Chr10:77977328 [GRCh38]
Chr10:79737086 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1129G>A single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001102764] Chr10:77976349 [GRCh38]
Chr10:79736107 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*994C>T single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001102766] Chr10:77976484 [GRCh38]
Chr10:79736242 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.2993G>A (p.Arg998His) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001108168] Chr10:77985981 [GRCh38]
Chr10:79745739 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2081G>A (p.Arg694His) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001104879] Chr10:78004882 [GRCh38]
Chr10:79764640 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2988+18C>T single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV001197958] Chr10:77986055 [GRCh38]
Chr10:79745813 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3549C>T (p.Ser1183=) single nucleotide variant not provided [RCV000913273] Chr10:77982698 [GRCh38]
Chr10:79742456 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1755G>A (p.Pro585=) single nucleotide variant not provided [RCV000913375] Chr10:78009879 [GRCh38]
Chr10:79769637 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1644T>C (p.Gly548=) single nucleotide variant not provided [RCV000933929] Chr10:78009990 [GRCh38]
Chr10:79769748 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1311A>G (p.Arg437=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001104980]|not provided [RCV000912116] Chr10:78017695 [GRCh38]
Chr10:79777453 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.4158C>T (p.Ile1386=) single nucleotide variant not provided [RCV000935211] Chr10:77977493 [GRCh38]
Chr10:79737251 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2916C>T (p.Phe972=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001102971] Chr10:77986145 [GRCh38]
Chr10:79745903 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2784C>A (p.Ile928=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001102972] Chr10:77993200 [GRCh38]
Chr10:79752958 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1335A>G single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001107993] Chr10:77976143 [GRCh38]
Chr10:79735901 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*923G>C single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001104680] Chr10:77976555 [GRCh38]
Chr10:79736313 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1049-6A>C single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001104982] Chr10:78021688 [GRCh38]
Chr10:79781446 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*818G>A single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001104682] Chr10:77976660 [GRCh38]
Chr10:79736418 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3771T>C (p.Thr1257=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001104796] Chr10:77981548 [GRCh38]
Chr10:79741306 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*671T>C single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001105847] Chr10:77976807 [GRCh38]
Chr10:79736565 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3646G>A (p.Glu1216Lys) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001105936] Chr10:77982267 [GRCh38]
Chr10:79742025 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*586G>A single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001105848] Chr10:77976892 [GRCh38]
Chr10:79736650 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3476G>A (p.Arg1159His) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001105937] Chr10:77982771 [GRCh38]
Chr10:79742529 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1910-13A>G single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001106042] Chr10:78007879 [GRCh38]
Chr10:79767637 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1824C>T (p.Ser608=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001106043] Chr10:78009622 [GRCh38]
Chr10:79769380 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.282T>C (p.His94=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001106139] Chr10:78025658 [GRCh38]
Chr10:79785416 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1607G>A single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001107339] Chr10:77975871 [GRCh38]
Chr10:79735629 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1564C>G single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001107341] Chr10:77975914 [GRCh38]
Chr10:79735672 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1457G>A single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001107342] Chr10:77976021 [GRCh38]
Chr10:79735779 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2662C>A (p.Leu888Met) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001102973] Chr10:77993322 [GRCh38]
Chr10:79753080 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1596G>A (p.Pro532=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001103067] Chr10:78010517 [GRCh38]
Chr10:79770275 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1509T>C (p.Asp503=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001103068] Chr10:78013713 [GRCh38]
Chr10:79773471 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1681C>G (p.Arg561Gly) single nucleotide variant not provided [RCV001171771] Chr10:78009953 [GRCh38]
Chr10:79769711 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.*1341A>C single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001107991] Chr10:77976137 [GRCh38]
Chr10:79735895 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1643C>T single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001107338] Chr10:77975835 [GRCh38]
Chr10:79735593 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.126C>G (p.Tyr42Ter) single nucleotide variant not provided [RCV001171772] Chr10:78026148 [GRCh38]
Chr10:79785906 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.3905G>T (p.Gly1302Val) single nucleotide variant POLR3A-related neurological disorders [RCV001249722] Chr10:77980260 [GRCh38]
Chr10:79740018 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.4125G>T (p.Arg1375Ser) single nucleotide variant not provided [RCV001091330] Chr10:77977526 [GRCh38]
Chr10:79737284 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1097G>A single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001102765] Chr10:77976381 [GRCh38]
Chr10:79736139 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.871G>A (p.Asp291Asn) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001104984] Chr10:78022159 [GRCh38]
Chr10:79781917 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1982A>G (p.Asn661Ser) single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV001196134] Chr10:78007794 [GRCh38]
Chr10:79767552 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1771-5C>G single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001106044] Chr10:78009680 [GRCh38]
Chr10:79769438 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2779A>G (p.Asn927Asp) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001171506] Chr10:77993205 [GRCh38]
Chr10:79752963 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1342A>G single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001107990] Chr10:77976136 [GRCh38]
Chr10:79735894 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*303C>T single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001108087] Chr10:77977175 [GRCh38]
Chr10:79736933 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1152G>A single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001102763] Chr10:77976326 [GRCh38]
Chr10:79736084 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.181-11T>A single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001108350] Chr10:78025770 [GRCh38]
Chr10:79785528 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.4129C>G (p.Leu1377Val) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001102871] Chr10:77977522 [GRCh38]
Chr10:79737280 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3787G>A (p.Ala1263Thr) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001104794] Chr10:77981532 [GRCh38]
Chr10:79741290 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3786C>T (p.Ala1262=) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001104795] Chr10:77981533 [GRCh38]
Chr10:79741291 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3698G>A (p.Arg1233Gln) single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001104797] Chr10:77982215 [GRCh38]
Chr10:79741973 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1771-6C>G single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV001254101]|not provided [RCV001268248] Chr10:78009681 [GRCh38]
Chr10:79769439 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.3944_3945del (p.Val1315fs) microsatellite not provided [RCV001267909] Chr10:77980220..77980221 [GRCh38]
Chr10:79739978..79739979 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.1896_1897del (p.Ala633fs) microsatellite not provided [RCV001268126] Chr10:78009549..78009550 [GRCh38]
Chr10:79769307..79769308 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.1011G>A (p.Trp337Ter) single nucleotide variant not provided [RCV001268335] Chr10:78021897 [GRCh38]
Chr10:79781655 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.91C>T (p.Gln31Ter) single nucleotide variant not provided [RCV001268447] Chr10:78026183 [GRCh38]
Chr10:79785941 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.1572+1G>T single nucleotide variant not provided [RCV001268116] Chr10:78013649 [GRCh38]
Chr10:79773407 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.2378C>G (p.Ser793Ter) single nucleotide variant not provided [RCV001268557] Chr10:78001076 [GRCh38]
Chr10:79760834 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.3655G>T (p.Gly1219Ter) single nucleotide variant not provided [RCV001269672] Chr10:77982258 [GRCh38]
Chr10:79742016 [GRCh37]
Chr10:10q22.3
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30074 AgrOrtholog
COSMIC POLR3A COSMIC
Ensembl Genes ENSG00000148606 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000361446 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000473389 UniProtKB/TrEMBL
  ENSP00000483738 UniProtKB/TrEMBL
Ensembl Transcript ENST00000372371 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000473588 UniProtKB/TrEMBL
  ENST00000616246 UniProtKB/TrEMBL
Gene3D-CATH 1.10.132.30 UniProtKB/Swiss-Prot
  1.10.274.100 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000148606 GTEx
HGNC ID HGNC:30074 ENTREZGENE
Human Proteome Map POLR3A Human Proteome Map
InterPro RNA_pol_asu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA_pol_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA_pol_Rpb1_1 UniProtKB/Swiss-Prot
  RNA_pol_Rpb1_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA_pol_Rpb1_3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA_pol_Rpb1_4 UniProtKB/Swiss-Prot
  RNA_pol_Rpb1_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNAP_III_Rpc1_C UniProtKB/Swiss-Prot
  RNAP_III_RPC1_N UniProtKB/Swiss-Prot
  Rpb1_funnel_sf UniProtKB/Swiss-Prot
KEGG Report hsa:11128 UniProtKB/Swiss-Prot
NCBI Gene 11128 ENTREZGENE
OMIM 264090 OMIM
  607694 OMIM
  614258 OMIM
Pfam RNA_pol_Rpb1_1 UniProtKB/Swiss-Prot
  RNA_pol_Rpb1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA_pol_Rpb1_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA_pol_Rpb1_4 UniProtKB/Swiss-Prot
  RNA_pol_Rpb1_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134900426 PharmGKB
SMART RPOLA_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt O14802 ENTREZGENE
  Q7Z755_HUMAN UniProtKB/TrEMBL
  R4GMX2_HUMAN UniProtKB/TrEMBL
  RPC1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q8IW34 UniProtKB/Swiss-Prot
  Q8TCW5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-19 POLR3A  RNA polymerase III subunit A    polymerase (RNA) III subunit A  Symbol and/or name change 5135510 APPROVED
2016-03-07 POLR3A  polymerase (RNA) III subunit A    polymerase (RNA) III (DNA directed) polypeptide A, 155kDa  Symbol and/or name change 5135510 APPROVED
2011-09-01 POLR3A  polymerase (RNA) III (DNA directed) polypeptide A, 155kDa  POLR3A  polymerase (RNA) III (DNA directed) polypeptide A, 155kDa  Symbol and/or name change 5135510 APPROVED