PURA (purine rich element binding protein A) - Rat Genome Database

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Gene: PURA (purine rich element binding protein A) Homo sapiens
Analyze
Symbol: PURA
Name: purine rich element binding protein A
RGD ID: 1318376
HGNC Page HGNC:9701
Description: Enables double-stranded telomeric DNA binding activity. Involved in DNA unwinding involved in DNA replication and negative regulation of transcription by RNA polymerase II. Located in nucleus. Implicated in autosomal dominant intellectual developmental disorder 31.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: MRD31; NEDRIHF; PUR-ALPHA; PUR1; PURALPHA; purine-rich element binding protein A; purine-rich single-stranded DNA-binding protein alpha; transcriptional activator protein Pur-alpha
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
GRCh385140,114,109 - 140,125,619 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5140,107,777 - 140,125,619 (+)EnsemblGRCh38hg38GRCh38
GRCh375139,493,694 - 139,505,204 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365139,473,892 - 139,476,505 (+)NCBINCBI36Build 36hg18NCBI36
Build 345139,473,891 - 139,475,030NCBI
Celera5135,569,524 - 135,572,137 (+)NCBICelera
Cytogenetic Map5q31.3NCBI
HuRef5134,636,880 - 134,642,173 (+)NCBIHuRef
CHM1_15138,926,813 - 138,932,106 (+)NCBICHM1_1
T2T-CHM13v2.05140,639,205 - 140,650,714 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal heart morphology  (IAGP)
Abnormal pinna morphology  (IAGP)
Abnormality of neuronal migration  (IAGP)
Abnormality of primary teeth  (IAGP)
Abnormality of the nervous system  (IAGP)
Absent speech  (IAGP)
Anteverted nares  (IAGP)
Anxiety  (IAGP)
Apnea  (IAGP)
Aspiration pneumonia  (IAGP)
Ataxia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bilateral tonic-clonic seizure with generalized onset  (IAGP)
Brain atrophy  (IAGP)
Brain imaging abnormality  (IAGP)
Broad nasal tip  (IAGP)
Broad-based gait  (IAGP)
Childhood onset  (IAGP)
CNS hypomyelination  (IAGP)
Deep philtrum  (IAGP)
Delayed CNS myelination  (IAGP)
Delayed myelination  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dyskinesia  (IAGP)
Dystonia  (IAGP)
EEG abnormality  (IAGP)
Epicanthus  (IAGP)
Epileptic encephalopathy  (IAGP)
Epileptic spasm  (IAGP)
Esotropia  (IAGP)
Exaggerated startle response  (IAGP)
Facial asymmetry  (IAGP)
Facial hypotonia  (IAGP)
Feeding difficulties  (IAGP)
Feeding difficulties in infancy  (IAGP)
Focal tonic seizure  (IAGP)
Frontal bossing  (IAGP)
Full cheeks  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Handgrip myotonia  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
Hypotonia  (IAGP)
Hypoventilation  (IAGP)
Inability to walk  (IAGP)
Incisor macrodontia  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, severe  (IAGP)
Limb dystonia  (IAGP)
Long face  (IAGP)
Long palpebral fissure  (IAGP)
Low-set ears  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Motor delay  (IAGP)
Myoclonus  (IAGP)
Myopathic facies  (IAGP)
Myopia  (IAGP)
Narrow forehead  (IAGP)
Neonatal hypotonia  (IAGP)
Neonatal onset  (IAGP)
Nystagmus  (IAGP)
Open mouth  (IAGP)
Polydactyly  (IAGP)
Prominent forehead  (IAGP)
Prominent metopic ridge  (IAGP)
Ptosis  (IAGP)
Recurrent pneumonia  (IAGP)
Respiratory distress  (IAGP)
Respiratory insufficiency  (IAGP)
Seizure  (IAGP)
Severe global developmental delay  (IAGP)
Severe muscular hypotonia  (IAGP)
Short attention span  (IAGP)
Short nose  (IAGP)
Sparse lateral eyebrow  (IAGP)
Speech apraxia  (IAGP)
Strabismus  (IAGP)
Telecanthus  (IAGP)
Tented upper lip vermilion  (IAGP)
Thin upper lip vermilion  (IAGP)
Underdeveloped nasal alae  (IAGP)
Upslanted palpebral fissure  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1448097   PMID:1545807   PMID:7592647   PMID:7606931   PMID:7862639   PMID:8759014   PMID:8943069   PMID:9383706   PMID:9716182   PMID:9830007   PMID:10082537   PMID:10318844  
PMID:10412036   PMID:10457364   PMID:10500218   PMID:10597240   PMID:10679817   PMID:10954586   PMID:11032728   PMID:11169743   PMID:11181995   PMID:11413364   PMID:11417483   PMID:11596104  
PMID:11730934   PMID:11751932   PMID:11937543   PMID:12034829   PMID:12147688   PMID:12411317   PMID:12477932   PMID:12491158   PMID:12565890   PMID:12933792   PMID:12972605   PMID:15517862  
PMID:15707957   PMID:15777841   PMID:16196087   PMID:16364241   PMID:16741963   PMID:17081983   PMID:17353931   PMID:17641060   PMID:17643375   PMID:17722108   PMID:18187620   PMID:18258596  
PMID:18386260   PMID:18413735   PMID:18780968   PMID:18927497   PMID:19165527   PMID:19182532   PMID:19267365   PMID:20020773   PMID:20467437   PMID:21062477   PMID:21081503   PMID:21139048  
PMID:21145461   PMID:21151833   PMID:21873635   PMID:21890473   PMID:21903422   PMID:22337293   PMID:22658674   PMID:22681889   PMID:22835829   PMID:22939629   PMID:23000965   PMID:23151878  
PMID:23152365   PMID:23463506   PMID:24446247   PMID:24457600   PMID:24778252   PMID:24816145   PMID:24819879   PMID:24981860   PMID:25342064   PMID:25439098   PMID:25681748   PMID:25921289  
PMID:26089202   PMID:26186194   PMID:26728149   PMID:26777405   PMID:26795593   PMID:26949251   PMID:27148565   PMID:27248496   PMID:27609421   PMID:27748283   PMID:28302793   PMID:28431233  
PMID:28448108   PMID:28514442   PMID:28611215   PMID:28695742   PMID:28973437   PMID:29053956   PMID:29298432   PMID:29331416   PMID:29568061   PMID:29802200   PMID:29845934   PMID:29940778  
PMID:30154076   PMID:30196744   PMID:30209976   PMID:30442762   PMID:30471916   PMID:30833792   PMID:30940648   PMID:31091453   PMID:31253590   PMID:31353912   PMID:31527615   PMID:31586073  
PMID:31640799   PMID:31665637   PMID:31685992   PMID:31822558   PMID:32051553   PMID:32235678   PMID:32707033   PMID:32807901   PMID:32812023   PMID:32994395   PMID:33142842   PMID:33306668  
PMID:33658012   PMID:33731348   PMID:33742100   PMID:33961781   PMID:34011540   PMID:34048709   PMID:34316702   PMID:34591612   PMID:34650049   PMID:34709727   PMID:34728620   PMID:34780058  
PMID:35013218   PMID:35140242   PMID:35338135   PMID:35384245   PMID:35509820   PMID:35676246   PMID:35831314   PMID:35850772   PMID:35944360   PMID:35945453   PMID:36059274   PMID:36215168  
PMID:36244648   PMID:36543142   PMID:36651277   PMID:36736316   PMID:36912080   PMID:37149929   PMID:37909329   PMID:38113892   PMID:38172120  


Genomics

Comparative Map Data
PURA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385140,114,109 - 140,125,619 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5140,107,777 - 140,125,619 (+)EnsemblGRCh38hg38GRCh38
GRCh375139,493,694 - 139,505,204 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365139,473,892 - 139,476,505 (+)NCBINCBI36Build 36hg18NCBI36
Build 345139,473,891 - 139,475,030NCBI
Celera5135,569,524 - 135,572,137 (+)NCBICelera
Cytogenetic Map5q31.3NCBI
HuRef5134,636,880 - 134,642,173 (+)NCBIHuRef
CHM1_15138,926,813 - 138,932,106 (+)NCBICHM1_1
T2T-CHM13v2.05140,639,205 - 140,650,714 (+)NCBIT2T-CHM13v2.0
Pura
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391836,413,614 - 36,434,575 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1836,414,150 - 36,425,588 (+)EnsemblGRCm39 Ensembl
GRCm381836,280,560 - 36,292,535 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1836,281,097 - 36,292,535 (+)EnsemblGRCm38mm10GRCm38
MGSCv371836,440,816 - 36,447,899 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361836,407,136 - 36,414,223 (+)NCBIMGSCv36mm8
Celera1836,723,061 - 36,744,137 (+)NCBICelera
Cytogenetic Map18B2NCBI
Pura
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81828,159,103 - 28,179,539 (+)NCBIGRCr8
mRatBN7.21827,885,071 - 27,905,509 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1827,884,556 - 27,905,513 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1828,012,429 - 28,032,867 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01828,774,266 - 28,794,712 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01828,109,203 - 28,129,639 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01829,103,850 - 29,110,215 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1829,110,242 - 29,111,156 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01828,817,907 - 28,820,657 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41828,916,722 - 28,925,008 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11828,948,984 - 28,950,043 (+)NCBI
Celera1827,615,341 - 27,621,754 (+)NCBICelera
Cytogenetic Map18p11NCBI
Pura
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955418538,883 - 548,605 (-)NCBIChiLan1.0ChiLan1.0
PURA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24135,367,844 - 135,434,934 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15133,507,397 - 133,566,974 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05135,541,865 - 135,610,526 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15141,659,224 - 141,727,870 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5141,598,580 - 141,599,762 (+)Ensemblpanpan1.1panPan2
PanPan1.1 Ensembl5141,659,224 - 141,727,870 (+)Ensemblpanpan1.1panPan2
PURA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1235,325,630 - 35,345,366 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl235,330,902 - 35,332,835 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha232,434,696 - 32,449,319 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0235,787,240 - 35,801,863 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl235,787,255 - 35,788,223 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1232,839,467 - 32,854,084 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0233,706,906 - 33,721,528 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0234,457,817 - 34,472,443 (+)NCBIUU_Cfam_GSD_1.0
Pura
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213152,471,846 - 152,488,693 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365319,129,715 - 9,130,515 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365319,129,024 - 9,134,916 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PURA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2141,884,155 - 141,886,330 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12141,877,775 - 141,899,259 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22147,793,990 - 147,813,506 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PURA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12342,757,963 - 42,767,393 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2342,764,263 - 42,765,231 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603435,115,690 - 35,128,119 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pura
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474332,884,552 - 32,885,517 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474332,878,677 - 32,888,650 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PURA
304 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005859.5(PURA):c.123_146del (p.Gly42_Gly49del) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000548116]|not provided [RCV001358641] Chr5:140114296..140114319 [GRCh38]
Chr5:139493881..139493904 [GRCh37]
Chr5:5q31.3
likely benign|uncertain significance
NM_005859.5(PURA):c.321C>T (p.Ala107=) single nucleotide variant Inborn genetic diseases [RCV002316580]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000551575]|not provided [RCV001637084] Chr5:140114502 [GRCh38]
Chr5:139494087 [GRCh37]
Chr5:5q31.3
benign|likely benign
NM_005859.5(PURA):c.487C>T (p.Gln163Ter) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000652454]|not provided [RCV000523168] Chr5:140114668 [GRCh38]
Chr5:139494253 [GRCh37]
Chr5:5q31.3
pathogenic
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 copy number gain See cases [RCV000051193] Chr5:130860928..155321811 [GRCh38]
Chr5:130196621..154701371 [GRCh37]
Chr5:130224520..154681564 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1 copy number loss See cases [RCV000052142] Chr5:138871137..145812309 [GRCh38]
Chr5:138206826..145191872 [GRCh37]
Chr5:138234725..145172065 [NCBI36]
Chr5:5q31.2-32
pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2
pathogenic
NM_005859.5(PURA):c.496C>A (p.Arg166Ser) single nucleotide variant not provided [RCV000657967] Chr5:140114677 [GRCh38]
Chr5:139494262 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.812_814del (p.Phe271del) deletion Global developmental delay [RCV000144521]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000149569]|not provided [RCV000480536] Chr5:140114991..140114993 [GRCh38]
Chr5:139494576..139494578 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.556C>T (p.Gln186Ter) single nucleotide variant Global developmental delay [RCV000144523]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000149571] Chr5:140114737 [GRCh38]
Chr5:139494322 [GRCh37]
Chr5:5q31.3
pathogenic|not provided
NM_005859.5(PURA):c.289A>G (p.Lys97Glu) single nucleotide variant Global developmental delay [RCV000144524]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000149572] Chr5:140114470 [GRCh38]
Chr5:139494055 [GRCh37]
Chr5:5q31.3
pathogenic|not provided
NM_005859.5(PURA):c.299T>C (p.Leu100Pro) single nucleotide variant Global developmental delay [RCV000144525]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000149573] Chr5:140114480 [GRCh38]
Chr5:139494065 [GRCh37]
Chr5:5q31.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_005859.5(PURA):c.363C>G (p.Tyr121Ter) single nucleotide variant Abnormality of the nervous system [RCV001814067]|Global developmental delay [RCV000144526]|not provided [RCV000440769] Chr5:140114544 [GRCh38]
Chr5:139494129 [GRCh37]
Chr5:5q31.3
pathogenic|likely pathogenic
NM_005859.5(PURA):c.783C>G (p.Tyr261Ter) single nucleotide variant Global developmental delay [RCV000144527] Chr5:140114964 [GRCh38]
Chr5:139494549 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.265G>C (p.Ala89Pro) single nucleotide variant Global developmental delay [RCV000144529] Chr5:140114446 [GRCh38]
Chr5:139494031 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.263_265del (p.Ile88_Ala89delinsThr) deletion Global developmental delay [RCV000144530] Chr5:140114444..140114446 [GRCh38]
Chr5:139494029..139494031 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.596G>C (p.Arg199Pro) single nucleotide variant Global developmental delay [RCV000144531]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000656234]|not provided [RCV001281647] Chr5:140114777 [GRCh38]
Chr5:139494362 [GRCh37]
Chr5:5q31.3
pathogenic|likely pathogenic
NM_005859.5(PURA):c.307_308del (p.Ser103fs) microsatellite Global developmental delay [RCV000144522]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000149570] Chr5:140114483..140114484 [GRCh38]
Chr5:139494068..139494069 [GRCh37]
Chr5:5q31.3
pathogenic|not provided
NM_005859.5(PURA):c.470T>A (p.Met157Lys) single nucleotide variant Global developmental delay [RCV000144528] Chr5:140114651 [GRCh38]
Chr5:139494236 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.927_940del (p.Thr310fs) deletion Inborn genetic diseases [RCV000190790] Chr5:140115104..140115117 [GRCh38]
Chr5:139494689..139494702 [GRCh37]
Chr5:5q31.3
pathogenic|uncertain significance
NM_005859.5(PURA):c.472G>T (p.Asp158Tyr) single nucleotide variant Inborn genetic diseases [RCV000190672] Chr5:140114653 [GRCh38]
Chr5:139494238 [GRCh37]
Chr5:5q31.3
likely pathogenic|uncertain significance
NM_005859.5(PURA):c.716del (p.Lys239fs) deletion not provided [RCV001310524] Chr5:140114896 [GRCh38]
Chr5:139494481 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.710C>T (p.Ser237Phe) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000256438] Chr5:140114891 [GRCh38]
Chr5:139494476 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.563T>C (p.Ile188Thr) single nucleotide variant Inborn genetic diseases [RCV000622637]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000201221] Chr5:140114744 [GRCh38]
Chr5:139494329 [GRCh37]
Chr5:5q31.3
pathogenic|likely pathogenic
NM_005859.4(PURA):c.683A>G (p.Asn228Ser) single nucleotide variant not provided [RCV000172930] Chr5:140114864 [GRCh38]
Chr5:139494449 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.4(PURA):c.796A>T (p.Lys266Ter) single nucleotide variant not provided [RCV000172931] Chr5:140114977 [GRCh38]
Chr5:139494562 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.1A>T (p.Met1Leu) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001380050] Chr5:140114182 [GRCh38]
Chr5:139493767 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.305T>G (p.Leu102Arg) single nucleotide variant not provided [RCV000172933] Chr5:140114486 [GRCh38]
Chr5:139494071 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.4(PURA):c.768dupC (p.Ile257Hisfs) duplication not provided [RCV000172934] Chr5:140114949 [GRCh38]
Chr5:139494534 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.302_310del (p.Thr101_Ser103del) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000201223]|not provided [RCV000172935] Chr5:140114482..140114490 [GRCh38]
Chr5:139494067..139494075 [GRCh37]
Chr5:5q31.3
pathogenic|uncertain significance
NM_005859.4(PURA):c.792G>A (p.Trp264Ter) single nucleotide variant not provided [RCV000172936] Chr5:140114973 [GRCh38]
Chr5:139494558 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.4(PURA):c.218T>C (p.Phe73Ser) single nucleotide variant not provided [RCV000172937] Chr5:140114399 [GRCh38]
Chr5:139493984 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.4_8del (p.Ala2fs) deletion not provided [RCV000172940] Chr5:140114185..140114189 [GRCh38]
Chr5:139493770..139493774 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.379dup (p.Ser127fs) duplication not provided [RCV000172941] Chr5:140114559..140114560 [GRCh38]
Chr5:139494144..139494145 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.745del (p.Glu248_Val249insTer) deletion not provided [RCV000172942] Chr5:140114925 [GRCh38]
Chr5:139494510 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.419G>C (p.Arg140Pro) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001852104]|not provided [RCV000172938] Chr5:140114600 [GRCh38]
Chr5:139494185 [GRCh37]
Chr5:5q31.3
likely pathogenic|uncertain significance
GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3 copy number gain See cases [RCV000134725] Chr5:137836682..140696361 [GRCh38]
Chr5:137172371..140075946 [GRCh37]
Chr5:137200270..140056130 [NCBI36]
Chr5:5q31.2-31.3
pathogenic
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 copy number gain See cases [RCV000138808] Chr5:129847794..153353546 [GRCh38]
Chr5:129183487..152733106 [GRCh37]
Chr5:129211386..152713299 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
GRCh38/hg38 5q31.2-31.3(chr5:138942857-144605017)x3 copy number gain See cases [RCV000142806] Chr5:138942857..144605017 [GRCh38]
Chr5:138278546..143984580 [GRCh37]
Chr5:138306445..143964773 [NCBI36]
Chr5:5q31.2-31.3
uncertain significance
NM_005859.5(PURA):c.616A>T (p.Ile206Phe) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000169738] Chr5:140114797 [GRCh38]
Chr5:139494382 [GRCh37]
Chr5:5q31.3
pathogenic|not provided
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del) microsatellite Inborn genetic diseases [RCV001266572]|PURA Syndrome [RCV003335173]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000169739]|not provided [RCV000172939] Chr5:140114871..140114873 [GRCh38]
Chr5:139494456..139494458 [GRCh37]
Chr5:5q31.3
pathogenic|likely pathogenic|not provided
NM_005859.5(PURA):c.726_727del (p.Phe243fs) microsatellite PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000169737] Chr5:140114905..140114906 [GRCh38]
Chr5:139494490..139494491 [GRCh37]
Chr5:5q31.3
pathogenic|not provided
NM_005859.5(PURA):c.509_515del (p.Ile170fs) deletion not provided [RCV000239072] Chr5:140114688..140114694 [GRCh38]
Chr5:139494273..139494279 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.50del (p.Ser17fs) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000677701]|not provided [RCV003222097] Chr5:140114231 [GRCh38]
Chr5:139493816 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.450C>G (p.Arg150=) single nucleotide variant Inborn genetic diseases [RCV002311875]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000525611]|not provided [RCV001534929] Chr5:140114631 [GRCh38]
Chr5:139494216 [GRCh37]
Chr5:5q31.3
benign|likely benign
NM_005859.5(PURA):c.458G>C (p.Arg153Pro) single nucleotide variant Inborn genetic diseases [RCV002338813]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002518764]|not provided [RCV000255890] Chr5:140114639 [GRCh38]
Chr5:139494224 [GRCh37]
Chr5:5q31.3
pathogenic|likely pathogenic|uncertain significance
NM_005859.5(PURA):c.733C>T (p.Arg245Ter) single nucleotide variant not provided [RCV000522504] Chr5:140114914 [GRCh38]
Chr5:139494499 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.618C>T (p.Ile206=) single nucleotide variant Inborn genetic diseases [RCV002358607]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000527954] Chr5:140114799 [GRCh38]
Chr5:139494384 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.116dup (p.Gly40fs) duplication PURA Syndrome [RCV001836642]|not provided [RCV000333729] Chr5:140114292..140114293 [GRCh38]
Chr5:139493877..139493878 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.42_57del (p.Leu15fs) deletion not provided [RCV000366495] Chr5:140114218..140114233 [GRCh38]
Chr5:139493803..139493818 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.808_809del (p.Thr270fs) microsatellite not provided [RCV000375816] Chr5:140114985..140114986 [GRCh38]
Chr5:139494570..139494571 [GRCh37]
Chr5:5q31.3
pathogenic|likely pathogenic
NM_005859.5(PURA):c.367C>T (p.Gln123Ter) single nucleotide variant not provided [RCV000376723] Chr5:140114548 [GRCh38]
Chr5:139494133 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.711dup (p.Asn238fs) duplication not provided [RCV000407792] Chr5:140114890..140114891 [GRCh38]
Chr5:139494475..139494476 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.658G>A (p.Glu220Lys) single nucleotide variant not provided [RCV002281270] Chr5:140114839 [GRCh38]
Chr5:139494424 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.83C>G (p.Ser28Ter) single nucleotide variant not provided [RCV003325344] Chr5:140114264 [GRCh38]
Chr5:139493849 [GRCh37]
Chr5:5q31.3
likely pathogenic
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3
likely benign
NM_005859.5(PURA):c.432A>C (p.Lys144Asn) single nucleotide variant not provided [RCV000523660] Chr5:140114613 [GRCh38]
Chr5:139494198 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.920C>T (p.Ala307Val) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000531782] Chr5:140115101 [GRCh38]
Chr5:139494686 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.163C>T (p.Gln55Ter) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001205527]|not provided [RCV000489918] Chr5:140114344 [GRCh38]
Chr5:139493929 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.486C>G (p.Asn162Lys) single nucleotide variant not provided [RCV000490074]|not specified [RCV002248714] Chr5:140114667 [GRCh38]
Chr5:139494252 [GRCh37]
Chr5:5q31.3
likely pathogenic|uncertain significance
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV002231249]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2
pathogenic
NM_005859.5(PURA):c.506G>C (p.Arg169Pro) single nucleotide variant Inborn genetic diseases [RCV000623185] Chr5:140114687 [GRCh38]
Chr5:139494272 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.692T>C (p.Phe231Ser) single nucleotide variant Inborn genetic diseases [RCV000624325] Chr5:140114873 [GRCh38]
Chr5:139494458 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.14_25delinsC (p.Asp5fs) indel not provided [RCV000522563] Chr5:140114195..140114206 [GRCh38]
Chr5:139493780..139493791 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.366_367dup (p.Gln123fs) microsatellite PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000578301] Chr5:140114543..140114544 [GRCh38]
Chr5:139494128..139494129 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.496C>T (p.Arg166Cys) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000578340] Chr5:140114677 [GRCh38]
Chr5:139494262 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.325G>T (p.Glu109Ter) single nucleotide variant not provided [RCV000598880] Chr5:140114506 [GRCh38]
Chr5:139494091 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.543C>T (p.Gly181=) single nucleotide variant Inborn genetic diseases [RCV002316581]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000554212]|not provided [RCV001637085] Chr5:140114724 [GRCh38]
Chr5:139494309 [GRCh37]
Chr5:5q31.3
benign|likely benign
NM_005859.5(PURA):c.451G>T (p.Glu151Ter) single nucleotide variant not provided [RCV000599346] Chr5:140114632 [GRCh38]
Chr5:139494217 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.137del (p.Gly46fs) deletion not provided [RCV000599345] Chr5:140114317 [GRCh38]
Chr5:139493902 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.511C>G (p.Arg171Gly) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000590943] Chr5:140114692 [GRCh38]
Chr5:139494277 [GRCh37]
Chr5:5q31.3
pathogenic|likely pathogenic|association
NM_005859.5(PURA):c.263T>C (p.Ile88Thr) single nucleotide variant not provided [RCV000523638] Chr5:140114444 [GRCh38]
Chr5:139494029 [GRCh37]
Chr5:5q31.3
likely pathogenic
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 copy number gain See cases [RCV000449349] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3
pathogenic
NM_005859.5(PURA):c.685A>T (p.Lys229Ter) single nucleotide variant not provided [RCV000445344] Chr5:140114866 [GRCh38]
Chr5:139494451 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.605T>C (p.Leu202Pro) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000678909] Chr5:140114786 [GRCh38]
Chr5:139494371 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.704T>G (p.Val235Gly) single nucleotide variant not provided [RCV000431640] Chr5:140114885 [GRCh38]
Chr5:139494470 [GRCh37]
Chr5:5q31.3
likely pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3
pathogenic
NM_005859.5(PURA):c.779C>T (p.Pro260Leu) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001342491]|not provided [RCV000482417] Chr5:140114960 [GRCh38]
Chr5:139494545 [GRCh37]
Chr5:5q31.3
likely pathogenic|uncertain significance
NM_005859.5(PURA):c.572C>T (p.Pro191Leu) single nucleotide variant Inborn genetic diseases [RCV001265745]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation [RCV002267612]|not provided [RCV000482884] Chr5:140114753 [GRCh38]
Chr5:139494338 [GRCh37]
Chr5:5q31.3
pathogenic|likely pathogenic
NM_005859.5(PURA):c.307_308dup (p.Met104fs) microsatellite not provided [RCV000482998] Chr5:140114482..140114483 [GRCh38]
Chr5:139494067..139494068 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.677_678del (p.Val226fs) microsatellite Inborn genetic diseases [RCV001266981]|Intellectual disability [RCV001257617]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001706645]|not provided [RCV000483395] Chr5:140114856..140114857 [GRCh38]
Chr5:139494441..139494442 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.248del (p.Gly83fs) deletion not provided [RCV000483427] Chr5:140114427 [GRCh38]
Chr5:139494012 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.616_618del (p.Ile206del) deletion not provided [RCV000484488] Chr5:140114795..140114797 [GRCh38]
Chr5:139494380..139494382 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.264del (p.Ile88fs) deletion not provided [RCV000485132] Chr5:140114445 [GRCh38]
Chr5:139494030 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.202A>G (p.Ile68Val) single nucleotide variant not provided [RCV000485332] Chr5:140114383 [GRCh38]
Chr5:139493968 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.173_174insT (p.Gln59fs) insertion not provided [RCV000479161] Chr5:140114354..140114355 [GRCh38]
Chr5:139493939..139493940 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.267del (p.Glu90fs) deletion not provided [RCV000486970] Chr5:140114447 [GRCh38]
Chr5:139494032 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.70C>G (p.Pro24Ala) single nucleotide variant not provided [RCV000479966] Chr5:140114251 [GRCh38]
Chr5:139493836 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.504_505delinsTT (p.Arg169Cys) indel not specified [RCV000501082] Chr5:140114685..140114686 [GRCh38]
Chr5:139494270..139494271 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.582G>T (p.Gly194=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000652455]|not specified [RCV000503646] Chr5:140114763 [GRCh38]
Chr5:139494348 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.123_128dup (p.Ser43_Gly44dup) duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000703253]|not provided [RCV001584217]|not specified [RCV000502002] Chr5:140114302..140114303 [GRCh38]
Chr5:139493887..139493888 [GRCh37]
Chr5:5q31.3
likely benign|uncertain significance
NM_005859.5(PURA):c.132CGG[6] (p.Gly49dup) microsatellite Inborn genetic diseases [RCV002314875]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000536830]|not provided [RCV001653862]|not specified [RCV000504468] Chr5:140114310..140114311 [GRCh38]
Chr5:139493895..139493896 [GRCh37]
Chr5:5q31.3
benign|likely benign|uncertain significance
NM_005859.5(PURA):c.621C>T (p.Asp207=) single nucleotide variant Inborn genetic diseases [RCV002316444]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000538440]|not provided [RCV001548719]|not specified [RCV000500255] Chr5:140114802 [GRCh38]
Chr5:139494387 [GRCh37]
Chr5:5q31.3
likely benign|uncertain significance
NM_005859.5(PURA):c.224T>C (p.Leu75Pro) single nucleotide variant not provided [RCV000498216] Chr5:140114405 [GRCh38]
Chr5:139493990 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.159dup (p.Leu54fs) duplication Intellectual disability [RCV001003590]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001035879]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation [RCV000616762]|not provided [RCV000498606] Chr5:140114334..140114335 [GRCh38]
Chr5:139493919..139493920 [GRCh37]
Chr5:5q31.3
pathogenic|likely pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
NM_005859.5(PURA):c.1A>G (p.Met1Val) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001783082]|not provided [RCV000579099] Chr5:140114182 [GRCh38]
Chr5:139493767 [GRCh37]
Chr5:5q31.3
pathogenic|likely pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_005859.5(PURA):c.427C>G (p.Leu143Val) single nucleotide variant Inborn genetic diseases [RCV000624189] Chr5:140114608 [GRCh38]
Chr5:139494193 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.725dup (p.Phe243fs) duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000578389] Chr5:140114905..140114906 [GRCh38]
Chr5:139494490..139494491 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.480G>A (p.Lys160=) single nucleotide variant Inborn genetic diseases [RCV002341457]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001419761] Chr5:140114661 [GRCh38]
Chr5:139494246 [GRCh37]
Chr5:5q31.3
benign|likely benign
NM_005859.5(PURA):c.141C>T (p.Gly47=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000526381]|not provided [RCV003437281] Chr5:140114322 [GRCh38]
Chr5:139493907 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.793G>A (p.Ala265Thr) single nucleotide variant not provided [RCV003318189] Chr5:140114974 [GRCh38]
Chr5:139494559 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.305T>C (p.Leu102Pro) single nucleotide variant Inborn genetic diseases [RCV000622368]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003129945] Chr5:140114486 [GRCh38]
Chr5:139494071 [GRCh37]
Chr5:5q31.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_005859.5(PURA):c.153del (p.Leu54fs) deletion Inborn genetic diseases [RCV000623169] Chr5:140114334 [GRCh38]
Chr5:139493919 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.82T>C (p.Ser28Pro) single nucleotide variant Inborn genetic diseases [RCV000623948]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002491336] Chr5:140114263 [GRCh38]
Chr5:139493848 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.132CGG[7] (p.Gly48_Gly49dup) microsatellite Inborn genetic diseases [RCV002388144]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000652453] Chr5:140114310..140114311 [GRCh38]
Chr5:139493895..139493896 [GRCh37]
Chr5:5q31.3
likely benign|uncertain significance
NM_005859.5(PURA):c.270G>A (p.Glu90=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000652456] Chr5:140114451 [GRCh38]
Chr5:139494036 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.42G>A (p.Ala14=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000652458]|not provided [RCV003432706] Chr5:140114223 [GRCh38]
Chr5:139493808 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.582G>C (p.Gly194=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000652457] Chr5:140114763 [GRCh38]
Chr5:139494348 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.205C>T (p.Gln69Ter) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000803739]|not provided [RCV000578542] Chr5:140114386 [GRCh38]
Chr5:139493971 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.734G>C (p.Arg245Pro) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000656235] Chr5:140114915 [GRCh38]
Chr5:139494500 [GRCh37]
Chr5:5q31.3
pathogenic|not provided
NM_005859.5(PURA):c.7_11del (p.Asp3fs) deletion Inborn genetic diseases [RCV000623804] Chr5:140114186..140114190 [GRCh38]
Chr5:139493771..139493775 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.43C>A (p.Leu15Met) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000685099] Chr5:140114224 [GRCh38]
Chr5:139493809 [GRCh37]
Chr5:5q31.3
uncertain significance
GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1 copy number loss not provided [RCV000682600] Chr5:139147238..141540491 [GRCh37]
Chr5:5q31.2-31.3
pathogenic
NM_005859.5(PURA):c.114_122del (p.Gly40_Gly42del) deletion Inborn genetic diseases [RCV002311990]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000699858]|not provided [RCV001551072] Chr5:140114287..140114295 [GRCh38]
Chr5:139493872..139493880 [GRCh37]
Chr5:5q31.3
likely benign|uncertain significance
NM_005859.5(PURA):c.127_141del (p.Ser43_Gly47del) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000684960]|not provided [RCV002469255] Chr5:140114296..140114310 [GRCh38]
Chr5:139493881..139493895 [GRCh37]
Chr5:5q31.3
likely benign|uncertain significance
NM_005859.5(PURA):c.493G>A (p.Gly165Ser) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000704255] Chr5:140114674 [GRCh38]
Chr5:139494259 [GRCh37]
Chr5:5q31.3
conflicting interpretations of pathogenicity|uncertain significance
NM_005859.5(PURA):c.619_625del (p.Asp207fs) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000690596] Chr5:140114800..140114806 [GRCh38]
Chr5:139494385..139494391 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.110G>C (p.Gly37Ala) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000693552]|not provided [RCV001771960] Chr5:140114291 [GRCh38]
Chr5:139493876 [GRCh37]
Chr5:5q31.3
likely benign|uncertain significance
NM_005859.5(PURA):c.105_131del (p.Gly41_Gly49del) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000706091] Chr5:140114282..140114308 [GRCh38]
Chr5:139493867..139493893 [GRCh37]
Chr5:5q31.3
likely benign|uncertain significance
NM_005859.5(PURA):c.10C>T (p.Arg4Ter) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000692544] Chr5:140114191 [GRCh38]
Chr5:139493776 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.494_497dup (p.Phe167fs) duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000697589] Chr5:140114672..140114673 [GRCh38]
Chr5:139494257..139494258 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.175C>T (p.Gln59Ter) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000707077]|not provided [RCV003238197] Chr5:140114356 [GRCh38]
Chr5:139493941 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.382dup (p.Gln128fs) duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000702539] Chr5:140114561..140114562 [GRCh38]
Chr5:139494146..139494147 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.40G>C (p.Ala14Pro) single nucleotide variant Inborn genetic diseases [RCV002317918]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000691588] Chr5:140114221 [GRCh38]
Chr5:139493806 [GRCh37]
Chr5:5q31.3
benign|likely benign|uncertain significance
NM_005859.5(PURA):c.78_83dup (p.26_27SG[4]) duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000696781]|not provided [RCV001672925] Chr5:140114253..140114254 [GRCh38]
Chr5:139493838..139493839 [GRCh37]
Chr5:5q31.3
benign|likely benign|uncertain significance
NM_005859.5(PURA):c.634G>C (p.Glu212Gln) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000697064] Chr5:140114815 [GRCh38]
Chr5:139494400 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.73G>A (p.Gly25Ser) single nucleotide variant Inborn genetic diseases [RCV002314587]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002534552] Chr5:140114254 [GRCh38]
Chr5:139493839 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.105T>C (p.Gly35=) single nucleotide variant Inborn genetic diseases [RCV002318736]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001393249] Chr5:140114286 [GRCh38]
Chr5:139493871 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.240C>T (p.Asn80=) single nucleotide variant Inborn genetic diseases [RCV002317977]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000882371] Chr5:140114421 [GRCh38]
Chr5:139494006 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.421C>A (p.Arg141=) single nucleotide variant Inborn genetic diseases [RCV002317626] Chr5:140114602 [GRCh38]
Chr5:139494187 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.531G>C (p.Gly177=) single nucleotide variant Inborn genetic diseases [RCV002318668]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951850] Chr5:140114712 [GRCh38]
Chr5:139494297 [GRCh37]
Chr5:5q31.3
likely benign
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_005859.5(PURA):c.804A>C (p.Gly268=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001495712] Chr5:140114985 [GRCh38]
Chr5:139494570 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.407_420dup (p.Ala142fs) duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000761338] Chr5:140114583..140114584 [GRCh38]
Chr5:139494168..139494169 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.132CGG[3] (p.Gly48_Gly49del) microsatellite PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001306045]|not provided [RCV000762167] Chr5:140114311..140114316 [GRCh38]
Chr5:139493896..139493901 [GRCh37]
Chr5:5q31.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NM_005859.5(PURA):c.696C>T (p.Phe232=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000982554] Chr5:140114877 [GRCh38]
Chr5:139494462 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.426G>A (p.Ala142=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001495814] Chr5:140114607 [GRCh38]
Chr5:139494192 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.525C>T (p.Asn175=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002066035] Chr5:140114706 [GRCh38]
Chr5:139494291 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.615C>T (p.Leu205=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001500572] Chr5:140114796 [GRCh38]
Chr5:139494381 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.102_119dup (p.Gly37_Gly42dup) duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001048081] Chr5:140114270..140114271 [GRCh38]
Chr5:139493855..139493856 [GRCh37]
Chr5:5q31.3
likely benign|uncertain significance
NM_005859.5(PURA):c.312del (p.Met104fs) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000799344] Chr5:140114493 [GRCh38]
Chr5:139494078 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.265G>A (p.Ala89Thr) single nucleotide variant Neurodevelopmental disorder [RCV000782038] Chr5:140114446 [GRCh38]
Chr5:139494031 [GRCh37]
Chr5:5q31.3
likely pathogenic|uncertain significance
NM_005859.5(PURA):c.492C>T (p.Arg164=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002540196] Chr5:140114673 [GRCh38]
Chr5:139494258 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.390G>A (p.Pro130=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000920521] Chr5:140114571 [GRCh38]
Chr5:139494156 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.390G>C (p.Pro130=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000945866] Chr5:140114571 [GRCh38]
Chr5:139494156 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.369G>A (p.Gln123=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000960699] Chr5:140114550 [GRCh38]
Chr5:139494135 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.300T>G (p.Leu100=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951838] Chr5:140114481 [GRCh38]
Chr5:139494066 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.303T>G (p.Thr101=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951839] Chr5:140114484 [GRCh38]
Chr5:139494069 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.315A>G (p.Ser105=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951840] Chr5:140114496 [GRCh38]
Chr5:139494081 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.321C>G (p.Ala107=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951841] Chr5:140114502 [GRCh38]
Chr5:139494087 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.375C>G (p.Gly125=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951842] Chr5:140114556 [GRCh38]
Chr5:139494141 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.387G>C (p.Pro129=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951843] Chr5:140114568 [GRCh38]
Chr5:139494153 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.399C>G (p.Ala133=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951844] Chr5:140114580 [GRCh38]
Chr5:139494165 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.495C>G (p.Gly165=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951847] Chr5:140114676 [GRCh38]
Chr5:139494261 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.537C>G (p.Gly179=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951905] Chr5:140114718 [GRCh38]
Chr5:139494303 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.573C>G (p.Pro191=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951907] Chr5:140114754 [GRCh38]
Chr5:139494339 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.585C>G (p.Leu195=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951908] Chr5:140114766 [GRCh38]
Chr5:139494351 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.597T>C (p.Arg199=) single nucleotide variant Inborn genetic diseases [RCV002354852]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951909] Chr5:140114778 [GRCh38]
Chr5:139494363 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.759T>C (p.Tyr253=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001450186] Chr5:140114940 [GRCh38]
Chr5:139494525 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.777G>C (p.Val259=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001505817] Chr5:140114958 [GRCh38]
Chr5:139494543 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.789G>C (p.Val263=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001405942] Chr5:140114970 [GRCh38]
Chr5:139494555 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.387G>A (p.Pro129=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000921998] Chr5:140114568 [GRCh38]
Chr5:139494153 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.146G>T (p.Gly49Val) single nucleotide variant Inborn genetic diseases [RCV002537495]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000821193]|not provided [RCV001759608] Chr5:140114327 [GRCh38]
Chr5:139493912 [GRCh37]
Chr5:5q31.3
likely benign|uncertain significance
NM_005859.5(PURA):c.919G>A (p.Ala307Thr) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000812327] Chr5:140115100 [GRCh38]
Chr5:139494685 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.950A>T (p.Glu317Val) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000818498] Chr5:140115131 [GRCh38]
Chr5:139494716 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.119del (p.Gly40fs) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000804112] Chr5:140114299 [GRCh38]
Chr5:139493884 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.787_789del (p.Val263del) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000813052] Chr5:140114967..140114969 [GRCh38]
Chr5:139494552..139494554 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.339C>G (p.Tyr113Ter) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000812533] Chr5:140114520 [GRCh38]
Chr5:139494105 [GRCh37]
Chr5:5q31.3
pathogenic
GRCh37/hg19 5q31.2-31.3(chr5:139447779-140047037)x3 copy number gain not provided [RCV000846756] Chr5:139447779..140047037 [GRCh37]
Chr5:5q31.2-31.3
uncertain significance
NM_005859.5(PURA):c.430A>G (p.Lys144Glu) single nucleotide variant Intellectual disability [RCV001257616]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000824835] Chr5:140114611 [GRCh38]
Chr5:139494196 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.127_138del (p.Ser43_Gly46del) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000802625] Chr5:140114299..140114310 [GRCh38]
Chr5:139493884..139493895 [GRCh37]
Chr5:5q31.3
likely benign|uncertain significance
NM_005859.5(PURA):c.114_140del (p.Gly41_Gly49del) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001067613] Chr5:140114287..140114313 [GRCh38]
Chr5:139493872..139493898 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.640G>T (p.Glu214Ter) single nucleotide variant Apnea [RCV000786859]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000995624] Chr5:140114821 [GRCh38]
Chr5:139494406 [GRCh37]
Chr5:5q31.3
pathogenic|likely pathogenic
NM_005859.5(PURA):c.449_456del (p.Arg150fs) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000987605] Chr5:140114629..140114636 [GRCh38]
Chr5:139494214..139494221 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.227A>C (p.Asp76Ala) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003314512] Chr5:140114408 [GRCh38]
Chr5:139493993 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.394C>G (p.Leu132Val) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000819365] Chr5:140114575 [GRCh38]
Chr5:139494160 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.126_146dup (p.Ser43_Gly49dup) duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000792426] Chr5:140114295..140114296 [GRCh38]
Chr5:139493880..139493881 [GRCh37]
Chr5:5q31.3
likely benign|uncertain significance
NM_005859.5(PURA):c.922G>A (p.Ala308Thr) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000814283] Chr5:140115103 [GRCh38]
Chr5:139494688 [GRCh37]
Chr5:5q31.3
uncertain significance
NC_000005.10:g.(?_140114162)_(140115170_?)del deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001031664] Chr5:139493747..139494755 [GRCh37]
Chr5:5q31.2
pathogenic
NM_005859.5(PURA):c.9_12dup (p.Asp5fs) duplication not provided [RCV001092020] Chr5:140114187..140114188 [GRCh38]
Chr5:139493772..139493773 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.484A>G (p.Asn162Asp) single nucleotide variant not provided [RCV000998446] Chr5:140114665 [GRCh38]
Chr5:139494250 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.66dup (p.His23fs) duplication not provided [RCV001008966] Chr5:140114243..140114244 [GRCh38]
Chr5:139493828..139493829 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.503T>C (p.Leu168Pro) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000851305] Chr5:140114684 [GRCh38]
Chr5:139494269 [GRCh37]
Chr5:5q31.3
likely pathogenic|uncertain significance
NM_005859.5(PURA):c.493G>C (p.Gly165Arg) single nucleotide variant not provided [RCV000992738] Chr5:140114674 [GRCh38]
Chr5:139494259 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.38del (p.Ala13fs) deletion not provided [RCV001008876] Chr5:140114219 [GRCh38]
Chr5:139493804 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.281del (p.Gly94fs) deletion not provided [RCV001009294] Chr5:140114460 [GRCh38]
Chr5:139494045 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.98del (p.Gly33fs) deletion Epileptic encephalopathy [RCV001003589]|not provided [RCV001281603] Chr5:140114275 [GRCh38]
Chr5:139493860 [GRCh37]
Chr5:5q31.3
pathogenic|likely pathogenic
NM_005859.5(PURA):c.407_435del (p.Gln136fs) deletion not provided [RCV001008603] Chr5:140114586..140114614 [GRCh38]
Chr5:139494171..139494199 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.155G>A (p.Gly52Glu) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001222468] Chr5:140114336 [GRCh38]
Chr5:139493921 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.114_122dup (p.Gly40_Gly42dup) duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001222159] Chr5:140114286..140114287 [GRCh38]
Chr5:139493871..139493872 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.638A>T (p.Glu213Val) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001239406] Chr5:140114819 [GRCh38]
Chr5:139494404 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.148del (p.Ala50fs) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001239908] Chr5:140114326 [GRCh38]
Chr5:139493911 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.144del (p.Ala50fs) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001239907] Chr5:140114325 [GRCh38]
Chr5:139493910 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.884_892del (p.Leu295_Gln297del) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001229317] Chr5:140115061..140115069 [GRCh38]
Chr5:139494646..139494654 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.424dup (p.Ala142fs) duplication PURA Syndrome [RCV000853376] Chr5:140114602..140114603 [GRCh38]
Chr5:139494187..139494188 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.614T>C (p.Leu205Pro) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000987606] Chr5:140114795 [GRCh38]
Chr5:139494380 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.565G>C (p.Ala189Pro) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000995623] Chr5:140114746 [GRCh38]
Chr5:139494331 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.534_555dup (p.Gln186fs) duplication not provided [RCV001009073] Chr5:140114713..140114714 [GRCh38]
Chr5:139494298..139494299 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.171_172dup (p.Thr58fs) microsatellite not provided [RCV001559872] Chr5:140114349..140114350 [GRCh38]
Chr5:139493934..139493935 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.27G>A (p.Glu9=) single nucleotide variant not provided [RCV001673579] Chr5:140114208 [GRCh38]
Chr5:139493793 [GRCh37]
Chr5:5q31.3
benign
NM_005859.5(PURA):c.*20CA[8] microsatellite not provided [RCV001650293] Chr5:140115169..140115170 [GRCh38]
Chr5:139494754..139494755 [GRCh37]
Chr5:5q31.3
benign
NM_005859.5(PURA):c.279G>A (p.Ala93=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001456843] Chr5:140114460 [GRCh38]
Chr5:139494045 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.564T>C (p.Ile188=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951906] Chr5:140114745 [GRCh38]
Chr5:139494330 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.603T>G (p.Ala201=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951910] Chr5:140114784 [GRCh38]
Chr5:139494369 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.630A>C (p.Gly210=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951911] Chr5:140114811 [GRCh38]
Chr5:139494396 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.702T>C (p.Asp234=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951912] Chr5:140114883 [GRCh38]
Chr5:139494468 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.735A>G (p.Arg245=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951915] Chr5:140114916 [GRCh38]
Chr5:139494501 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.432A>G (p.Lys144=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951845] Chr5:140114613 [GRCh38]
Chr5:139494198 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.477C>G (p.Leu159=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951846] Chr5:140114658 [GRCh38]
Chr5:139494243 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.519G>C (p.Thr173=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951848] Chr5:140114700 [GRCh38]
Chr5:139494285 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.528G>C (p.Arg176=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951849]|not provided [RCV001570978] Chr5:140114709 [GRCh38]
Chr5:139494294 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.534T>G (p.Pro178=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951851] Chr5:140114715 [GRCh38]
Chr5:139494300 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.726G>C (p.Val242=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951913] Chr5:140114907 [GRCh38]
Chr5:139494492 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.729T>C (p.Phe243=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV000951914] Chr5:140114910 [GRCh38]
Chr5:139494495 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.77C>A (p.Ser26Ter) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001222865] Chr5:140114258 [GRCh38]
Chr5:139493843 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.478_480del (p.Lys160del) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001209035] Chr5:140114659..140114661 [GRCh38]
Chr5:139494244..139494246 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.241G>A (p.Ala81Thr) single nucleotide variant not provided [RCV000998445] Chr5:140114422 [GRCh38]
Chr5:139494007 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.127A>G (p.Ser43Gly) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002573173]|not provided [RCV001562415] Chr5:140114308 [GRCh38]
Chr5:139493893 [GRCh37]
Chr5:5q31.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005859.5(PURA):c.478A>C (p.Lys160Gln) single nucleotide variant not provided [RCV003234503] Chr5:140114659 [GRCh38]
Chr5:139494244 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.62del (p.Leu21fs) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation [RCV002472251] Chr5:140114243 [GRCh38]
Chr5:139493828 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.534_556dup (p.Gln186fs) duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001264732] Chr5:140114709..140114710 [GRCh38]
Chr5:139494294..139494295 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.53dup (p.Gly19fs) duplication not provided [RCV001008128] Chr5:140114231..140114232 [GRCh38]
Chr5:139493816..139493817 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.779C>G (p.Pro260Arg) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001030997] Chr5:140114960 [GRCh38]
Chr5:139494545 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.802G>T (p.Gly268Ter) single nucleotide variant not provided [RCV001590248] Chr5:140114983 [GRCh38]
Chr5:139494568 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.15del (p.Asp5fs) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001542576] Chr5:140114196 [GRCh38]
Chr5:139493781 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.278C>T (p.Ala93Val) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001036112] Chr5:140114459 [GRCh38]
Chr5:139494044 [GRCh37]
Chr5:5q31.3
benign|uncertain significance
NM_005859.5(PURA):c.211A>G (p.Lys71Glu) single nucleotide variant not provided [RCV001585160] Chr5:140114392 [GRCh38]
Chr5:139493977 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.720C>G (p.Tyr240Ter) single nucleotide variant PURA Syndrome [RCV003232254]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001232985]|See cases [RCV002252338] Chr5:140114901 [GRCh38]
Chr5:139494486 [GRCh37]
Chr5:5q31.3
pathogenic|likely pathogenic
NM_005859.5(PURA):c.517A>G (p.Thr173Ala) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001056157] Chr5:140114698 [GRCh38]
Chr5:139494283 [GRCh37]
Chr5:5q31.3
likely benign|uncertain significance
NM_005859.5(PURA):c.58T>C (p.Ser20Pro) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001212518] Chr5:140114239 [GRCh38]
Chr5:139493824 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.127_141dup (p.Ser43_Gly47dup) duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001042192] Chr5:140114295..140114296 [GRCh38]
Chr5:139493880..139493881 [GRCh37]
Chr5:5q31.3
likely benign|uncertain significance
NM_005859.5(PURA):c.149_156dup (p.Gly53fs) duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001027694] Chr5:140114326..140114327 [GRCh38]
Chr5:139493911..139493912 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.102_119del (p.Gly37_Gly42del) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001213603]|not provided [RCV003438721]|not specified [RCV003479294] Chr5:140114271..140114288 [GRCh38]
Chr5:139493856..139493873 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.70C>T (p.Pro24Ser) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001040096] Chr5:140114251 [GRCh38]
Chr5:139493836 [GRCh37]
Chr5:5q31.3
likely benign|uncertain significance
NM_005859.5(PURA):c.518C>A (p.Thr173Lys) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001217196] Chr5:140114699 [GRCh38]
Chr5:139494284 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.116_148del (p.Gly39_Gly49del) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001197762] Chr5:140114287..140114319 [GRCh38]
Chr5:139493872..139493904 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.127_138dup (p.Ser43_Gly46dup) duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001245841] Chr5:140114298..140114299 [GRCh38]
Chr5:139493883..139493884 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.45_60dup (p.Leu21fs) duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003314657]|not provided [RCV001008137] Chr5:140114225..140114226 [GRCh38]
Chr5:139493810..139493811 [GRCh37]
Chr5:5q31.3
pathogenic|likely pathogenic
NM_005859.5(PURA):c.155G>T (p.Gly52Val) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001050627] Chr5:140114336 [GRCh38]
Chr5:139493921 [GRCh37]
Chr5:5q31.3
benign|uncertain significance
NM_005859.5(PURA):c.925G>C (p.Ala309Pro) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001205263] Chr5:140115106 [GRCh38]
Chr5:139494691 [GRCh37]
Chr5:5q31.3
likely benign|uncertain significance
NM_005859.5(PURA):c.298_315del (p.Leu100_Ser105del) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001254108] Chr5:140114479..140114496 [GRCh38]
Chr5:139494064..139494081 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.459dup (p.Lys154fs) duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001252603] Chr5:140114639..140114640 [GRCh38]
Chr5:139494224..139494225 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.178G>T (p.Glu60Ter) single nucleotide variant PURA Syndrome [RCV002274161]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001252643] Chr5:140114359 [GRCh38]
Chr5:139493944 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.703del (p.Val235fs) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001253768] Chr5:140114884 [GRCh38]
Chr5:139494469 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.955G>C (p.Gly319Arg) single nucleotide variant Intellectual disability [RCV001257615] Chr5:140115136 [GRCh38]
Chr5:139494721 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.-12_25del (p.Met1fs) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001251142] Chr5:140114161..140114197 [GRCh38]
Chr5:139493746..139493782 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.127_130del (p.Ser43fs) deletion Inborn genetic diseases [RCV001265759] Chr5:140114308..140114311 [GRCh38]
Chr5:139493893..139493896 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.458_487dup (p.Arg153_Asn162dup) duplication Inborn genetic diseases [RCV001266899] Chr5:140114631..140114632 [GRCh38]
Chr5:139494216..139494217 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.533dup (p.Gly179fs) duplication Inborn genetic diseases [RCV001267156] Chr5:140114712..140114713 [GRCh38]
Chr5:139494297..139494298 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.681_682insTGAGGAC (p.Asn228Ter) insertion Inborn genetic diseases [RCV001267121] Chr5:140114858..140114859 [GRCh38]
Chr5:139494443..139494444 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.475C>G (p.Leu159Val) single nucleotide variant Inborn genetic diseases [RCV001265849] Chr5:140114656 [GRCh38]
Chr5:139494241 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.509T>G (p.Ile170Ser) single nucleotide variant not provided [RCV001267964] Chr5:140114690 [GRCh38]
Chr5:139494275 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.898del (p.Gln300fs) deletion not provided [RCV001268783] Chr5:140115079 [GRCh38]
Chr5:139494664 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.641_645dup (p.Ala216fs) duplication Inborn genetic diseases [RCV001265803] Chr5:140114820..140114821 [GRCh38]
Chr5:139494405..139494406 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.101del (p.Gly34fs) deletion Inborn genetic diseases [RCV001265987] Chr5:140114281 [GRCh38]
Chr5:139493866 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.584T>A (p.Leu195His) single nucleotide variant Inborn genetic diseases [RCV001267380] Chr5:140114765 [GRCh38]
Chr5:139494350 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.595C>T (p.Arg199Cys) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001338247]|not provided [RCV003317481] Chr5:140114776 [GRCh38]
Chr5:139494361 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.100G>A (p.Gly34Ser) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001314027] Chr5:140114281 [GRCh38]
Chr5:139493866 [GRCh37]
Chr5:5q31.3
likely benign|uncertain significance
NM_005859.5(PURA):c.334G>C (p.Asp112His) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001320154] Chr5:140114515 [GRCh38]
Chr5:139494100 [GRCh37]
Chr5:5q31.3
likely benign|uncertain significance
NM_005859.5(PURA):c.898CAG[5] (p.Gln303dup) microsatellite PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001298274] Chr5:140115078..140115079 [GRCh38]
Chr5:139494663..139494664 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.132CGG[2] (p.Gly47_Gly49del) microsatellite PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001304343] Chr5:140114311..140114319 [GRCh38]
Chr5:139493896..139493904 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.102_113del (p.Gly39_Gly42del) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001343570] Chr5:140114278..140114289 [GRCh38]
Chr5:139493863..139493874 [GRCh37]
Chr5:5q31.3
uncertain significance
NC_000005.9:g.(?_136633338)_(140998481_?)dup duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001339088] Chr5:136633338..140998481 [GRCh37]
Chr5:5q31.2-31.3
uncertain significance
NM_005859.5(PURA):c.895dup (p.Gln299fs) duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001361703] Chr5:140115075..140115076 [GRCh38]
Chr5:139494660..139494661 [GRCh37]
Chr5:5q31.3
pathogenic|uncertain significance
NM_005859.5(PURA):c.502dup (p.Leu168fs) duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001382622] Chr5:140114681..140114682 [GRCh38]
Chr5:139494266..139494267 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.383_386dup (p.Pro130fs) microsatellite PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001358681] Chr5:140114557..140114558 [GRCh38]
Chr5:139494142..139494143 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.657C>T (p.Pro219=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001423169] Chr5:140114838 [GRCh38]
Chr5:139494423 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.385C>T (p.Pro129Ser) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001303138] Chr5:140114566 [GRCh38]
Chr5:139494151 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.88_93del (p.26SG[2]) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001307279] Chr5:140114266..140114271 [GRCh38]
Chr5:139493851..139493856 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.941A>C (p.Gln314Pro) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001323993] Chr5:140115122 [GRCh38]
Chr5:139494707 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.350T>C (p.Phe117Ser) single nucleotide variant not provided [RCV001280769] Chr5:140114531 [GRCh38]
Chr5:139494116 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.268G>C (p.Glu90Gln) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001347054] Chr5:140114449 [GRCh38]
Chr5:139494034 [GRCh37]
Chr5:5q31.3
likely benign|uncertain significance
NM_005859.5(PURA):c.769A>G (p.Ile257Val) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001345186] Chr5:140114950 [GRCh38]
Chr5:139494535 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.109G>T (p.Gly37Cys) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001305049] Chr5:140114290 [GRCh38]
Chr5:139493875 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.674C>T (p.Thr225Ile) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001296177] Chr5:140114855 [GRCh38]
Chr5:139494440 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.221A>G (p.Tyr74Cys) single nucleotide variant See cases [RCV001420324] Chr5:140114402 [GRCh38]
Chr5:139493987 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.603T>C (p.Ala201=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001461050] Chr5:140114784 [GRCh38]
Chr5:139494369 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.132CGG[4] (p.Gly49del) microsatellite PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001464862]|not provided [RCV001685362] Chr5:140114311..140114313 [GRCh38]
Chr5:139493896..139493898 [GRCh37]
Chr5:5q31.3
benign|likely benign
NM_005859.5(PURA):c.498C>G (p.Arg166=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001484646] Chr5:140114679 [GRCh38]
Chr5:139494264 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.63G>T (p.Leu21=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001462917] Chr5:140114244 [GRCh38]
Chr5:139493829 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.918C>G (p.Thr306=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001503297] Chr5:140115099 [GRCh38]
Chr5:139494684 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.777G>A (p.Val259=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001484226] Chr5:140114958 [GRCh38]
Chr5:139494543 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.228C>T (p.Asp76=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001506373] Chr5:140114409 [GRCh38]
Chr5:139493994 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.51G>T (p.Ser17=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001409266] Chr5:140114232 [GRCh38]
Chr5:139493817 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.462G>A (p.Lys154=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001445961] Chr5:140114643 [GRCh38]
Chr5:139494228 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.647_660del (p.Ala216fs) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001380286] Chr5:140114827..140114840 [GRCh38]
Chr5:139494412..139494425 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.826G>T (p.Glu276Ter) single nucleotide variant not provided [RCV001532527] Chr5:140115007 [GRCh38]
Chr5:139494592 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.306C>T (p.Leu102=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001449428]|not specified [RCV001820140] Chr5:140114487 [GRCh38]
Chr5:139494072 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.255C>T (p.Phe85=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001437725]|not provided [RCV003438795] Chr5:140114436 [GRCh38]
Chr5:139494021 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.465C>T (p.Tyr155=) single nucleotide variant Inborn genetic diseases [RCV002329473]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001427018] Chr5:140114646 [GRCh38]
Chr5:139494231 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.165G>A (p.Gln55=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001393457] Chr5:140114346 [GRCh38]
Chr5:139493931 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.804A>G (p.Gly268=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001427611] Chr5:140114985 [GRCh38]
Chr5:139494570 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.669C>T (p.Ser223=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001448366] Chr5:140114850 [GRCh38]
Chr5:139494435 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.231G>T (p.Val77=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001436940] Chr5:140114412 [GRCh38]
Chr5:139493997 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.648C>T (p.Ala216=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001404347] Chr5:140114829 [GRCh38]
Chr5:139494414 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.843del (p.Gln282fs) deletion not provided [RCV001682685] Chr5:140115023 [GRCh38]
Chr5:139494608 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.543C>A (p.Gly181=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001502147] Chr5:140114724 [GRCh38]
Chr5:139494309 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.576G>T (p.Ala192=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001465478] Chr5:140114757 [GRCh38]
Chr5:139494342 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.537C>T (p.Gly179=) single nucleotide variant Inborn genetic diseases [RCV002350929]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001458396] Chr5:140114718 [GRCh38]
Chr5:139494303 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.918C>T (p.Thr306=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001470139] Chr5:140115099 [GRCh38]
Chr5:139494684 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.608C>T (p.Ala203Val) single nucleotide variant not provided [RCV001592075] Chr5:140114789 [GRCh38]
Chr5:139494374 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.450C>T (p.Arg150=) single nucleotide variant Inborn genetic diseases [RCV002342019]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001456824] Chr5:140114631 [GRCh38]
Chr5:139494216 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.741C>T (p.Ser247=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001490708] Chr5:140114922 [GRCh38]
Chr5:139494507 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.51G>C (p.Ser17=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001503868] Chr5:140114232 [GRCh38]
Chr5:139493817 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.267C>T (p.Ala89=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001467968] Chr5:140114448 [GRCh38]
Chr5:139494033 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.693C>T (p.Phe231=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001462130] Chr5:140114874 [GRCh38]
Chr5:139494459 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.93del (p.Gly33fs) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001390161] Chr5:140114274 [GRCh38]
Chr5:139493859 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.138C>T (p.Gly46=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002073967]|not provided [RCV001732414] Chr5:140114319 [GRCh38]
Chr5:139493904 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.169G>T (p.Glu57Ter) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002250281] Chr5:140114350 [GRCh38]
Chr5:139493935 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.629del (p.Gly210fs) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002250283] Chr5:140114809 [GRCh38]
Chr5:139494394 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.715A>T (p.Lys239Ter) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002250284] Chr5:140114896 [GRCh38]
Chr5:139494481 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.224T>G (p.Leu75Arg) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001730070] Chr5:140114405 [GRCh38]
Chr5:139493990 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.501C>G (p.Phe167Leu) single nucleotide variant Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome [RCV001730153] Chr5:140114682 [GRCh38]
Chr5:139494267 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.66del (p.His23fs) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001725864] Chr5:140114244 [GRCh38]
Chr5:139493829 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.531del (p.Pro178fs) deletion Inborn genetic diseases [RCV002343805]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001730056]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation [RCV002471138] Chr5:140114708 [GRCh38]
Chr5:139494293 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.74del (p.Gly25fs) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002273075] Chr5:140114254 [GRCh38]
Chr5:139493839 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.235C>T (p.Gln79Ter) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002255780] Chr5:140114416 [GRCh38]
Chr5:139494001 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.169G>C (p.Glu57Gln) single nucleotide variant not provided [RCV001754355] Chr5:140114350 [GRCh38]
Chr5:139493935 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.268G>A (p.Glu90Lys) single nucleotide variant not provided [RCV001763446] Chr5:140114449 [GRCh38]
Chr5:139494034 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.406C>T (p.Gln136Ter) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001733882] Chr5:140114587 [GRCh38]
Chr5:139494172 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.478A>G (p.Lys160Glu) single nucleotide variant not provided [RCV001763857] Chr5:140114659 [GRCh38]
Chr5:139494244 [GRCh37]
Chr5:5q31.3
likely pathogenic|uncertain significance
GRCh37/hg19 5q31.2-31.3(chr5:139493717-140517454)x1 copy number loss PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001801202] Chr5:139493717..140517454 [GRCh37]
Chr5:5q31.2-31.3
pathogenic
NM_005859.5(PURA):c.563_578del (p.Ile188fs) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001775389] Chr5:140114742..140114757 [GRCh38]
Chr5:139494327..139494342 [GRCh37]
Chr5:5q31.3
likely pathogenic
GRCh37/hg19 5q31.2-31.3(chr5:139486394-139505318)x1 copy number loss not provided [RCV001795853] Chr5:139486394..139505318 [GRCh37]
Chr5:5q31.2-31.3
pathogenic
NM_005859.5(PURA):c.494G>A (p.Gly165Asp) single nucleotide variant not provided [RCV001765436] Chr5:140114675 [GRCh38]
Chr5:139494260 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.34G>T (p.Gly12Cys) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002540603]|not provided [RCV001774674] Chr5:140114215 [GRCh38]
Chr5:139493800 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.530_531dup (p.Pro178fs) duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001814891] Chr5:140114707..140114708 [GRCh38]
Chr5:139494292..139494293 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.692T>G (p.Phe231Cys) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002542489]|not provided [RCV001822054] Chr5:140114873 [GRCh38]
Chr5:139494458 [GRCh37]
Chr5:5q31.3
pathogenic|likely pathogenic|uncertain significance
NM_005859.5(PURA):c.824C>A (p.Ser275Ter) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001809154] Chr5:140115005 [GRCh38]
Chr5:139494590 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.79G>C (p.Gly27Arg) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001867801] Chr5:140114260 [GRCh38]
Chr5:139493845 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.956_964del (p.Gly319_Glu321del) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001993797] Chr5:140115129..140115137 [GRCh38]
Chr5:139494714..139494722 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.847G>C (p.Glu283Gln) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001998221] Chr5:140115028 [GRCh38]
Chr5:139494613 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.50C>A (p.Ser17Ter) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002052108] Chr5:140114231 [GRCh38]
Chr5:139493816 [GRCh37]
Chr5:5q31.3
likely pathogenic
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910) copy number gain not specified [RCV002053526] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3
pathogenic
NM_005859.5(PURA):c.389del (p.Pro130fs) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002035428] Chr5:140114569 [GRCh38]
Chr5:139494154 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.215G>A (p.Arg72His) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002052155] Chr5:140114396 [GRCh38]
Chr5:139493981 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.387dup (p.Pro130fs) duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001999862] Chr5:140114567..140114568 [GRCh38]
Chr5:139494152..139494153 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.114_119del (p.Gly41_Gly42del) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001901579] Chr5:140114290..140114295 [GRCh38]
Chr5:139493875..139493880 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.112_126dup (p.Gly38_Gly42dup) duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001912920] Chr5:140114286..140114287 [GRCh38]
Chr5:139493871..139493872 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.65G>A (p.Gly22Glu) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001915727] Chr5:140114246 [GRCh38]
Chr5:139493831 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.310dup (p.Met104fs) duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001904753] Chr5:140114490..140114491 [GRCh38]
Chr5:139494075..139494076 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.436G>A (p.Glu146Lys) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001909321] Chr5:140114617 [GRCh38]
Chr5:139494202 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.77C>T (p.Ser26Leu) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001907045] Chr5:140114258 [GRCh38]
Chr5:139493843 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.185C>T (p.Ala62Val) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001882152] Chr5:140114366 [GRCh38]
Chr5:139493951 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.55G>A (p.Gly19Ser) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001887076] Chr5:140114236 [GRCh38]
Chr5:139493821 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.627C>T (p.Tyr209=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002087181] Chr5:140114808 [GRCh38]
Chr5:139494393 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.68A>G (p.His23Arg) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002148319] Chr5:140114249 [GRCh38]
Chr5:139493834 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.287A>G (p.Asn96Ser) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002124797] Chr5:140114468 [GRCh38]
Chr5:139494053 [GRCh37]
Chr5:5q31.3
benign
NM_005859.5(PURA):c.126_146del (p.Ser43_Gly49del) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002125569] Chr5:140114296..140114316 [GRCh38]
Chr5:139493881..139493901 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.51G>A (p.Ser17=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002074715] Chr5:140114232 [GRCh38]
Chr5:139493817 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.867G>C (p.Arg289=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002087040] Chr5:140115048 [GRCh38]
Chr5:139494633 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.108C>G (p.Gly36=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002095815] Chr5:140114289 [GRCh38]
Chr5:139493874 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.423G>A (p.Arg141=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002107651] Chr5:140114604 [GRCh38]
Chr5:139494189 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.444G>A (p.Leu148=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002196783] Chr5:140114625 [GRCh38]
Chr5:139494210 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.360C>T (p.His120=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002166383] Chr5:140114541 [GRCh38]
Chr5:139494126 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.495C>T (p.Gly165=) single nucleotide variant Inborn genetic diseases [RCV002346434]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002096468] Chr5:140114676 [GRCh38]
Chr5:139494261 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.267C>G (p.Ala89=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002093140] Chr5:140114448 [GRCh38]
Chr5:139494033 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.502C>T (p.Leu168=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002132576] Chr5:140114683 [GRCh38]
Chr5:139494268 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.897A>G (p.Gln299=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002113102] Chr5:140115078 [GRCh38]
Chr5:139494663 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.723C>T (p.Gly241=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002179241] Chr5:140114904 [GRCh38]
Chr5:139494489 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.600C>T (p.Asp200=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002175943] Chr5:140114781 [GRCh38]
Chr5:139494366 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.123C>T (p.Gly41=) single nucleotide variant Inborn genetic diseases [RCV002372850]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002177675] Chr5:140114304 [GRCh38]
Chr5:139493889 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.275G>C (p.Gly92Ala) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003101332]|not specified [RCV002248143] Chr5:140114456 [GRCh38]
Chr5:139494041 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.127_144del (p.Ser43_Gly48del) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002143637] Chr5:140114296..140114313 [GRCh38]
Chr5:139493881..139493898 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.99C>T (p.Gly33=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002143657] Chr5:140114280 [GRCh38]
Chr5:139493865 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.186C>T (p.Ala62=) single nucleotide variant Inborn genetic diseases [RCV002409597]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002164257] Chr5:140114367 [GRCh38]
Chr5:139493952 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.672G>C (p.Leu224Phe) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002160752] Chr5:140114853 [GRCh38]
Chr5:139494438 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.114_137del (p.Gly42_Gly49del) deletion Inborn genetic diseases [RCV003070637]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002140471] Chr5:140114285..140114308 [GRCh38]
Chr5:139493870..139493893 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.102T>C (p.Gly34=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002203790] Chr5:140114283 [GRCh38]
Chr5:139493868 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.210C>T (p.Asn70=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002102938] Chr5:140114391 [GRCh38]
Chr5:139493976 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.549G>A (p.Thr183=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002180163] Chr5:140114730 [GRCh38]
Chr5:139494315 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.910GAG[1] (p.Glu305del) microsatellite PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003110518] Chr5:140115089..140115091 [GRCh38]
Chr5:139494674..139494676 [GRCh37]
Chr5:5q31.3
uncertain significance
NC_000005.9:g.(?_136957787)_(140078137_?)dup duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003116437] Chr5:136957787..140078137 [GRCh37]
Chr5:5q31.2-31.3
uncertain significance
NM_005859.5(PURA):c.25G>T (p.Glu9Ter) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003112180] Chr5:140114206 [GRCh38]
Chr5:139493791 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.469A>G (p.Met157Val) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002227002]|not provided [RCV003328694] Chr5:140114650 [GRCh38]
Chr5:139494235 [GRCh37]
Chr5:5q31.3
likely pathogenic|uncertain significance
NM_005859.5(PURA):c.409G>C (p.Asp137His) single nucleotide variant not specified [RCV002248144] Chr5:140114590 [GRCh38]
Chr5:139494175 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.512G>C (p.Arg171Pro) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002250282] Chr5:140114693 [GRCh38]
Chr5:139494278 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.898C>T (p.Gln300Ter) single nucleotide variant not provided [RCV003149518] Chr5:140115079 [GRCh38]
Chr5:139494664 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.206dup (p.Asn70fs) duplication not provided [RCV002263392] Chr5:140114386..140114387 [GRCh38]
Chr5:139493971..139493972 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.426_427dup (p.Leu143fs) microsatellite PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002273256] Chr5:140114604..140114605 [GRCh38]
Chr5:139494189..139494190 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.44T>C (p.Leu15Pro) single nucleotide variant not provided [RCV002263391] Chr5:140114225 [GRCh38]
Chr5:139493810 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.215G>C (p.Arg72Pro) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002289329] Chr5:140114396 [GRCh38]
Chr5:139493981 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.577C>T (p.Gln193Ter) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002289437] Chr5:140114758 [GRCh38]
Chr5:139494343 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.362dup (p.Tyr121Ter) duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation [RCV002273026] Chr5:140114542..140114543 [GRCh38]
Chr5:139494127..139494128 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.98dup (p.Gly34fs) duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002285247] Chr5:140114274..140114275 [GRCh38]
Chr5:139493859..139493860 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.15_16del (p.Asp5fs) deletion not provided [RCV002267257] Chr5:140114195..140114196 [GRCh38]
Chr5:139493780..139493781 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.625T>G (p.Tyr209Asp) single nucleotide variant not provided [RCV002283214] Chr5:140114806 [GRCh38]
Chr5:139494391 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.455A>T (p.Asn152Ile) single nucleotide variant not provided [RCV002263393] Chr5:140114636 [GRCh38]
Chr5:139494221 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.139G>A (p.Gly47Ser) single nucleotide variant not provided [RCV002293128] Chr5:140114320 [GRCh38]
Chr5:139493905 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.259A>G (p.Lys87Glu) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002289452] Chr5:140114440 [GRCh38]
Chr5:139494025 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.232A>G (p.Lys78Glu) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003097825]|not provided [RCV002293129] Chr5:140114413 [GRCh38]
Chr5:139493998 [GRCh37]
Chr5:5q31.3
likely pathogenic|uncertain significance
NM_005859.5(PURA):c.951A>C (p.Glu317Asp) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002297424] Chr5:140115132 [GRCh38]
Chr5:139494717 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.4_7dup (p.Asp3fs) duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003148121] Chr5:140114183..140114184 [GRCh38]
Chr5:139493768..139493769 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.657del (p.Glu220fs) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003131278] Chr5:140114836 [GRCh38]
Chr5:139494421 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.227A>T (p.Asp76Val) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002466350] Chr5:140114408 [GRCh38]
Chr5:139493993 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.217T>G (p.Phe73Val) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002470184] Chr5:140114398 [GRCh38]
Chr5:139493983 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.381C>A (p.Ser127Arg) single nucleotide variant not provided [RCV002474134] Chr5:140114562 [GRCh38]
Chr5:139494147 [GRCh37]
Chr5:5q31.3
likely benign|uncertain significance
NM_005859.5(PURA):c.*8G>A single nucleotide variant not provided [RCV002464788] Chr5:140115158 [GRCh38]
Chr5:139494743 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.43C>G (p.Leu15Val) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002304078] Chr5:140114224 [GRCh38]
Chr5:139493809 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.168C>G (p.His56Gln) single nucleotide variant not provided [RCV002305949] Chr5:140114349 [GRCh38]
Chr5:139493934 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.91G>A (p.Gly31Ser) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002301336] Chr5:140114272 [GRCh38]
Chr5:139493857 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.168C>T (p.His56=) single nucleotide variant Inborn genetic diseases [RCV002406140]|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003097123] Chr5:140114349 [GRCh38]
Chr5:139493934 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.583_602del (p.Leu195fs) deletion Inborn genetic diseases [RCV002353240] Chr5:140114764..140114783 [GRCh38]
Chr5:139494349..139494368 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.416C>T (p.Pro139Leu) single nucleotide variant Inborn genetic diseases [RCV002333383] Chr5:140114597 [GRCh38]
Chr5:139494182 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.124G>A (p.Gly42Ser) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002303188] Chr5:140114305 [GRCh38]
Chr5:139493890 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.41C>T (p.Ala14Val) single nucleotide variant not provided [RCV002308742] Chr5:140114222 [GRCh38]
Chr5:139493807 [GRCh37]
Chr5:5q31.3
likely benign|uncertain significance
NM_005859.5(PURA):c.105T>G (p.Gly35=) single nucleotide variant not provided [RCV002512278] Chr5:140114286 [GRCh38]
Chr5:139493871 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.276C>T (p.Gly92=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002771535] Chr5:140114457 [GRCh38]
Chr5:139494042 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.928dup (p.Thr310fs) duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002993514] Chr5:140115108..140115109 [GRCh38]
Chr5:139494693..139494694 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.461A>G (p.Lys154Arg) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002971318] Chr5:140114642 [GRCh38]
Chr5:139494227 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.869C>T (p.Ala290Val) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002734797] Chr5:140115050 [GRCh38]
Chr5:139494635 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.948G>A (p.Glu316=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002756103] Chr5:140115129 [GRCh38]
Chr5:139494714 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.626A>T (p.Tyr209Phe) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002948133] Chr5:140114807 [GRCh38]
Chr5:139494392 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.513C>T (p.Arg171=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003075501] Chr5:140114694 [GRCh38]
Chr5:139494279 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.774C>A (p.Thr258=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002907676] Chr5:140114955 [GRCh38]
Chr5:139494540 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.921C>T (p.Ala307=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002908108] Chr5:140115102 [GRCh38]
Chr5:139494687 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.900G>A (p.Gln300=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002889599] Chr5:140115081 [GRCh38]
Chr5:139494666 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.38C>T (p.Ala13Val) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003053503] Chr5:140114219 [GRCh38]
Chr5:139493804 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.102TGG[3] (p.Gly42_Ser43insGly) microsatellite PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002695896] Chr5:140114280..140114281 [GRCh38]
Chr5:139493865..139493866 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.208A>C (p.Asn70His) single nucleotide variant Inborn genetic diseases [RCV002762454] Chr5:140114389 [GRCh38]
Chr5:139493974 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.282C>G (p.Gly94=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003077294] Chr5:140114463 [GRCh38]
Chr5:139494048 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.426G>C (p.Ala142=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002884991] Chr5:140114607 [GRCh38]
Chr5:139494192 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.203_211del (p.Ile68_Asn70del) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002867758] Chr5:140114381..140114389 [GRCh38]
Chr5:139493966..139493974 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.234G>A (p.Lys78=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003018896] Chr5:140114415 [GRCh38]
Chr5:139494000 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.888C>T (p.His296=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003100677] Chr5:140115069 [GRCh38]
Chr5:139494654 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.508A>T (p.Ile170Phe) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002796849] Chr5:140114689 [GRCh38]
Chr5:139494274 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.923C>T (p.Ala308Val) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002949579] Chr5:140115104 [GRCh38]
Chr5:139494689 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.789G>A (p.Val263=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003008071] Chr5:140114970 [GRCh38]
Chr5:139494555 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.54C>T (p.Gly18=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003056092] Chr5:140114235 [GRCh38]
Chr5:139493820 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.588C>T (p.Ile196=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002644509] Chr5:140114769 [GRCh38]
Chr5:139494354 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.399C>T (p.Ala133=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002828631] Chr5:140114580 [GRCh38]
Chr5:139494165 [GRCh37]
Chr5:5q31.3
benign
NM_005859.5(PURA):c.720C>T (p.Tyr240=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002741701] Chr5:140114901 [GRCh38]
Chr5:139494486 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.651G>T (p.Glu217Asp) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002805616] Chr5:140114832 [GRCh38]
Chr5:139494417 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.6G>C (p.Ala2=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002791326] Chr5:140114187 [GRCh38]
Chr5:139493772 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.363C>T (p.Tyr121=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003056233] Chr5:140114544 [GRCh38]
Chr5:139494129 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.435C>T (p.Ser145=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003057588] Chr5:140114616 [GRCh38]
Chr5:139494201 [GRCh37]
Chr5:5q31.3
benign
NM_005859.5(PURA):c.115GGC[1] (p.Gly40_Gly42del) microsatellite PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002876129] Chr5:140114296..140114304 [GRCh38]
Chr5:139493881..139493889 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.763A>G (p.Asn255Asp) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003042746] Chr5:140114944 [GRCh38]
Chr5:139494529 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.380dup (p.Ser127fs) duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002852759] Chr5:140114560..140114561 [GRCh38]
Chr5:139494145..139494146 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.147G>C (p.Gly49=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002958044] Chr5:140114328 [GRCh38]
Chr5:139493913 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.214C>A (p.Arg72Ser) single nucleotide variant not provided [RCV002508702] Chr5:140114395 [GRCh38]
Chr5:139493980 [GRCh37]
Chr5:5q31.3
pathogenic|uncertain significance
NM_005859.5(PURA):c.197T>A (p.Val66Glu) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003048702] Chr5:140114378 [GRCh38]
Chr5:139493963 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.819G>A (p.Lys273=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002933520] Chr5:140115000 [GRCh38]
Chr5:139494585 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.872C>T (p.Ala291Val) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003047148] Chr5:140115053 [GRCh38]
Chr5:139494638 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.117C>T (p.Gly39=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002937999] Chr5:140114298 [GRCh38]
Chr5:139493883 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.115GGC[5] (p.Gly42_Ser43insGly) microsatellite PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003088147] Chr5:140114295..140114296 [GRCh38]
Chr5:139493880..139493881 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.180G>A (p.Glu60=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002806909] Chr5:140114361 [GRCh38]
Chr5:139493946 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.61C>T (p.Leu21=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV002770850] Chr5:140114242 [GRCh38]
Chr5:139493827 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.3G>A (p.Met1Ile) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003030865] Chr5:140114184 [GRCh38]
Chr5:139493769 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.207G>A (p.Gln69=) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003062484] Chr5:140114388 [GRCh38]
Chr5:139493973 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.493G>T (p.Gly165Cys) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003154568] Chr5:140114674 [GRCh38]
Chr5:139494259 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.111C>G (p.Gly37=) single nucleotide variant not provided [RCV003223192] Chr5:140114292 [GRCh38]
Chr5:139493877 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.627C>G (p.Tyr209Ter) single nucleotide variant not provided [RCV003223193] Chr5:140114808 [GRCh38]
Chr5:139494393 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.228del (p.Asp76fs) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003225677] Chr5:140114409 [GRCh38]
Chr5:139493994 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.190A>T (p.Lys64Ter) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003133731] Chr5:140114371 [GRCh38]
Chr5:139493956 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.273_328del (p.Gly92fs) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation [RCV003226088] Chr5:140114452..140114507 [GRCh38]
Chr5:139494037..139494092 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.458G>A (p.Arg153His) single nucleotide variant not provided [RCV003319120] Chr5:140114639 [GRCh38]
Chr5:139494224 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.159del (p.Leu54fs) deletion PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003448512] Chr5:140114335 [GRCh38]
Chr5:139493920 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.467A>G (p.Tyr156Cys) single nucleotide variant PURA-related condition [RCV003397433] Chr5:140114648 [GRCh38]
Chr5:139494233 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.26_35del (p.Glu9fs) deletion PURA-related condition [RCV003404284] Chr5:140114206..140114215 [GRCh38]
Chr5:139493791..139493800 [GRCh37]
Chr5:5q31.3
pathogenic
NM_005859.5(PURA):c.296G>C (p.Arg99Pro) single nucleotide variant PURA-related condition [RCV003404370] Chr5:140114477 [GRCh38]
Chr5:139494062 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.726G>A (p.Val242=) single nucleotide variant not provided [RCV003429781] Chr5:140114907 [GRCh38]
Chr5:139494492 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.306C>G (p.Leu102=) single nucleotide variant not provided [RCV003436459] Chr5:140114487 [GRCh38]
Chr5:139494072 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.102T>G (p.Gly34=) single nucleotide variant not provided [RCV003436458] Chr5:140114283 [GRCh38]
Chr5:139493868 [GRCh37]
Chr5:5q31.3
likely benign
NM_005859.5(PURA):c.540_544dup (p.Ser182fs) duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003448531] Chr5:140114718..140114719 [GRCh38]
Chr5:139494303..139494304 [GRCh37]
Chr5:5q31.3
likely pathogenic
NM_005859.5(PURA):c.851A>C (p.Lys284Thr) single nucleotide variant PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003875846] Chr5:140115032 [GRCh38]
Chr5:139494617 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_005859.5(PURA):c.132CGG[8] (p.Gly49_Ala50insGlyGlyGly) microsatellite PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003877271] Chr5:140114310..140114311 [GRCh38]
Chr5:139493895..139493896 [GRCh37]
Chr5:5q31.3
uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR20Ahsa-miR-20a-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22835829
MIR15Bhsa-miR-15b-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22835829
MIR93hsa-miR-93-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22835829
MIR16-1hsa-miR-16-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22835829
MIR15Ahsa-miR-15a-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22835829
MIR16-2hsa-miR-16-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22835829
MIR106Bhsa-miR-106b-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22835829

Predicted Target Of
Summary Value
Count of predictions:1461
Count of miRNA genes:770
Interacting mature miRNAs:941
Transcripts:ENST00000331327, ENST00000502351, ENST00000505703
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.

Markers in Region
PURA__5615  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375139,494,225 - 139,495,045UniSTSGRCh37
Build 365139,474,409 - 139,475,229RGDNCBI36
Celera5135,570,041 - 135,570,861RGD
HuRef5134,637,397 - 134,638,217UniSTS
UniSTS:483914  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375139,493,717 - 139,494,786UniSTSGRCh37
Celera5135,569,533 - 135,570,602UniSTS
HuRef5134,636,889 - 134,637,958UniSTS


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 754 987 720 89 562 64 1279 405 1290 221 624 900 33 139 1098 3
Low 1684 1776 1006 535 1165 401 3077 1786 2444 198 836 713 142 1 1065 1690 3 2
Below cutoff 228 224 5

Sequence


RefSeq Acc Id: ENST00000331327   ⟹   ENSP00000332706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5140,114,109 - 140,125,619 (+)Ensembl
RefSeq Acc Id: ENST00000502351   ⟹   ENSP00000498760
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5140,112,928 - 140,114,260 (+)Ensembl
RefSeq Acc Id: ENST00000505703   ⟹   ENSP00000498560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5140,107,777 - 140,114,500 (+)Ensembl
RefSeq Acc Id: ENST00000651386   ⟹   ENSP00000499133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5140,107,815 - 140,115,554 (+)Ensembl
RefSeq Acc Id: ENST00000676000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5140,108,020 - 140,109,367 (+)Ensembl
RefSeq Acc Id: NM_005859   ⟹   NP_005850
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385140,114,109 - 140,125,619 (+)NCBI
GRCh375139,493,708 - 139,499,001 (+)ENTREZGENE
Build 365139,473,892 - 139,476,505 (+)NCBI Archive
HuRef5134,636,880 - 134,642,173 (+)ENTREZGENE
CHM1_15138,926,813 - 138,932,106 (+)NCBI
T2T-CHM13v2.05140,639,205 - 140,650,714 (+)NCBI
Sequence:
RefSeq Acc Id: NP_005850   ⟸   NM_005859
- UniProtKB: Q00577 (UniProtKB/Swiss-Prot),   Q56A79 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000332706   ⟸   ENST00000331327
RefSeq Acc Id: ENSP00000498760   ⟸   ENST00000502351
RefSeq Acc Id: ENSP00000498560   ⟸   ENST00000505703
RefSeq Acc Id: ENSP00000499133   ⟸   ENST00000651386

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q00577-F1-model_v2 AlphaFold Q00577 1-322 view protein structure

Promoters
RGD ID:6803487
Promoter ID:HG_KWN:51254
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000251341
Position:
Human AssemblyChrPosition (strand)Source
Build 365139,473,271 - 139,474,797 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9701 AgrOrtholog
COSMIC PURA COSMIC
Ensembl Genes ENSG00000185129 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000331327 ENTREZGENE
  ENST00000331327.5 UniProtKB/Swiss-Prot
  ENST00000502351.1 UniProtKB/TrEMBL
  ENST00000505703.2 UniProtKB/TrEMBL
  ENST00000651386.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.10.450.700 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.2450.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000185129 GTEx
HGNC ID HGNC:9701 ENTREZGENE
Human Proteome Map PURA Human Proteome Map
InterPro PUR-bd_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5813 UniProtKB/Swiss-Prot
NCBI Gene 5813 ENTREZGENE
OMIM 600473 OMIM
PANTHER PTHR12611 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12611:SF2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PurA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34045 PharmGKB
SMART PUR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A494C0H6_HUMAN UniProtKB/TrEMBL
  A0A494C0X8_HUMAN UniProtKB/TrEMBL
  PURA_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q2NLC9_HUMAN UniProtKB/TrEMBL
  Q2NLD4_HUMAN UniProtKB/TrEMBL
  Q56A79 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-14 PURA  purine rich element binding protein A  PURA  purine-rich element binding protein A  Symbol and/or name change 5135510 APPROVED