HNRNPU (heterogeneous nuclear ribonucleoprotein U) - Rat Genome Database

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Gene: HNRNPU (heterogeneous nuclear ribonucleoprotein U) Homo sapiens
Analyze
Symbol: HNRNPU
Name: heterogeneous nuclear ribonucleoprotein U
RGD ID: 731482
HGNC Page HGNC
Description: Enables several functions, including ATP binding activity; basal RNA polymerase II transcription machinery binding activity; and nucleic acid binding activity. Involved in several processes, including protein localization to organelle; regulation of cell cycle process; and regulation of nucleobase-containing compound metabolic process. Located in several cellular components, including chromosome; microtubule cytoskeleton; and nuclear lumen. Part of CRD-mediated mRNA stability complex; catalytic step 2 spliceosome; and telomerase holoenzyme complex. Colocalizes with RNA polymerase II transcription regulator complex. Implicated in developmental and epileptic encephalopathy 54. Biomarker of colorectal cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: C1orf199; DEE54; EIEE54; FLJ30202; GRIP120; heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A); hnRNP U; HNRNPU antisense RNA 1; HNRNPU-AS1; HNRPU; NCRNA00201; nuclear p120 ribonucleoprotein; p120 nuclear protein; pp120; SAF-A; SAFA; scaffold attachment factor A; system n1 na+ and h+-coupled glutamine transporter; transporter protein; U21.1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: HNRNPUP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1244,840,638 - 244,864,560 (-)EnsemblGRCh38hg38GRCh38
GRCh381244,850,297 - 244,864,543 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371245,013,599 - 245,027,845 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361243,080,225 - 243,094,450 (-)NCBINCBI36hg18NCBI36
Build 341241,343,003 - 241,353,868NCBI
Celera1218,303,553 - 218,317,021 (-)NCBI
Cytogenetic Map1q44NCBI
HuRef1215,396,765 - 215,410,903 (-)NCBIHuRef
CHM1_11246,285,948 - 246,300,167 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
acetylsalicylic acid  (EXP)
aconitine  (ISO)
acrolein  (EXP)
acrylamide  (ISO)
afimoxifene  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
aristolochic acid  (EXP)
Aroclor 1254  (ISO)
beauvericin  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (ISO)
Brodifacoum  (ISO)
butanal  (EXP)
calcium atom  (ISO)
calcium(0)  (ISO)
carbamazepine  (EXP)
chloroprene  (ISO)
chromium(6+)  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
coumestrol  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP,ISO)
dibutyl phthalate  (ISO)
dorsomorphin  (EXP)
enniatin  (EXP)
enzyme inhibitor  (EXP)
ethanol  (EXP,ISO)
ethyl methanesulfonate  (EXP)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fulvestrant  (EXP)
gentamycin  (ISO)
ivermectin  (EXP)
lead(0)  (EXP)
lead(2+)  (EXP)
methapyrilene  (ISO)
methyl methanesulfonate  (EXP)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
N-nitrosodiethylamine  (ISO)
ozone  (EXP)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (EXP,ISO)
PCB138  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium dichromate  (EXP)
propiconazole  (ISO)
raloxifene  (EXP)
SB 431542  (EXP)
serpentine asbestos  (EXP)
silicon dioxide  (ISO)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
tamoxifen  (EXP,ISO)
titanium dioxide  (EXP)
Tributyltin oxide  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
tungsten  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vincristine  (EXP)
Yessotoxin  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adaptive thermogenesis  (ISS)
cardiac muscle cell development  (IEA,ISO)
cell division  (IEA)
cellular response to dexamethasone stimulus  (ISO)
cellular response to glucocorticoid stimulus  (IDA)
cellular response to leukemia inhibitory factor  (ISS)
circadian regulation of gene expression  (ISS)
CRD-mediated mRNA stabilization  (IBA,IDA,IMP)
dendritic transport of messenger ribonucleoprotein complex  (IEA)
dosage compensation by inactivation of X chromosome  (ISS)
maintenance of protein location in nucleus  (IMP)
mRNA metabolic process  (ISO)
mRNA splicing, via spliceosome  (IC)
mRNA stabilization  (IDA)
negative regulation of kinase activity  (IMP)
negative regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay  (IDA)
negative regulation of stem cell differentiation  (IMP,ISS)
negative regulation of telomere maintenance via telomerase  (IBA,IMP)
negative regulation of transcription by RNA polymerase II  (IBA,IMP)
negative regulation of transcription elongation from RNA polymerase II promoter  (IMP)
osteoblast differentiation  (HDA)
positive regulation of attachment of mitotic spindle microtubules to kinetochore  (IBA,IMP)
positive regulation of brown fat cell differentiation  (ISS)
positive regulation of cytoplasmic translation  (IDA)
positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity  (ISO,ISS)
positive regulation of gene expression  (ISO)
positive regulation of stem cell proliferation  (ISS)
positive regulation of transcription by RNA polymerase II  (IBA,IMP,ISS)
protein localization to spindle microtubule  (IMP)
regulation of alternative mRNA splicing, via spliceosome  (IBA,IDA)
regulation of chromatin organization  (IBA,IMP)
regulation of mitotic cell cycle  (IMP)
regulation of mitotic spindle assembly  (IBA,IMP)
RNA localization to chromatin  (IBA,ISS)
RNA processing  (TAS)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1628625   PMID:7509195   PMID:7753047   PMID:7831290   PMID:7993898   PMID:8068679   PMID:8174554   PMID:8670859   PMID:8943344   PMID:9079809   PMID:9105675   PMID:9204873  
PMID:9353307   PMID:9405365   PMID:9563502   PMID:10348913   PMID:10490622   PMID:10671544   PMID:10862698   PMID:11003645   PMID:11813259   PMID:11850402   PMID:11850407   PMID:11909954  
PMID:11991638   PMID:12226669   PMID:12388589   PMID:12477932   PMID:12686378   PMID:12777385   PMID:12840015   PMID:12855701   PMID:14559993   PMID:14608463   PMID:14702039   PMID:15096513  
PMID:15121898   PMID:15303970   PMID:15364944   PMID:15385968   PMID:15489334   PMID:15592455   PMID:15711563   PMID:15778465   PMID:15782174   PMID:16009940   PMID:16051665   PMID:16055720  
PMID:16196087   PMID:16210410   PMID:16344560   PMID:16568080   PMID:16710414   PMID:16916646   PMID:16924231   PMID:17081983   PMID:17174306   PMID:17220478   PMID:17267499   PMID:17289661  
PMID:17332742   PMID:17573780   PMID:17620012   PMID:17620599   PMID:17643375   PMID:17765891   PMID:18082603   PMID:18212063   PMID:18247557   PMID:18320585   PMID:18457437   PMID:18618731  
PMID:18710935   PMID:18781797   PMID:18976975   PMID:19029303   PMID:19165527   PMID:19174163   PMID:19287380   PMID:19351595   PMID:19380743   PMID:19578763   PMID:19596686   PMID:19617346  
PMID:19738201   PMID:19759019   PMID:19808671   PMID:19946888   PMID:20020773   PMID:20080577   PMID:20150277   PMID:20360068   PMID:20382278   PMID:20431927   PMID:20467437   PMID:20554522  
PMID:20797629   PMID:20858735   PMID:20890123   PMID:21081503   PMID:21139048   PMID:21145461   PMID:21149631   PMID:21235343   PMID:21242313   PMID:21280222   PMID:21319273   PMID:21502505  
PMID:21532586   PMID:21549307   PMID:21575865   PMID:21642987   PMID:21825151   PMID:21853274   PMID:21873635   PMID:21890473   PMID:21906983   PMID:21907836   PMID:21942715   PMID:21963094  
PMID:21987572   PMID:21988832   PMID:22053931   PMID:22119785   PMID:22145905   PMID:22162999   PMID:22174317   PMID:22325991   PMID:22337587   PMID:22365833   PMID:22505724   PMID:22623428  
PMID:22658674   PMID:22678713   PMID:22681889   PMID:22720776   PMID:22751105   PMID:22810585   PMID:22863883   PMID:22902625   PMID:22939629   PMID:22944692   PMID:22952844   PMID:22963397  
PMID:23000965   PMID:23084401   PMID:23125841   PMID:23151878   PMID:23178491   PMID:23184937   PMID:23246001   PMID:23255807   PMID:23396972   PMID:23398456   PMID:23443559   PMID:23463506  
PMID:23798571   PMID:23811339   PMID:23824909   PMID:23825951   PMID:23979707   PMID:24075985   PMID:24147044   PMID:24189400   PMID:24244333   PMID:24332808   PMID:24457600   PMID:24515614  
PMID:24550385   PMID:24591637   PMID:24639526   PMID:24654937   PMID:24711643   PMID:24798327   PMID:24816145   PMID:24965446   PMID:25015289   PMID:25147182   PMID:25192599   PMID:25277244  
PMID:25324306   PMID:25332235   PMID:25378556   PMID:25437307   PMID:25515538   PMID:25616961   PMID:25735744   PMID:25737280   PMID:25756610   PMID:25900982   PMID:25921289   PMID:25948554  
PMID:25963833   PMID:25986610   PMID:26030138   PMID:26170170   PMID:26186194   PMID:26209609   PMID:26217791   PMID:26244333   PMID:26318153   PMID:26344197   PMID:26381412   PMID:26446488  
PMID:26460568   PMID:26496610   PMID:26506240   PMID:26641092   PMID:26643866   PMID:26693507   PMID:26725010   PMID:26760575   PMID:26816005   PMID:26831064   PMID:26881882   PMID:26979993  
PMID:26990986   PMID:27025967   PMID:27041735   PMID:27049334   PMID:27303920   PMID:27465491   PMID:27503909   PMID:27545878   PMID:27576135   PMID:27591049   PMID:27684187   PMID:27861801  
PMID:27976729   PMID:28221134   PMID:28283832   PMID:28302793   PMID:28325877   PMID:28393272   PMID:28416769   PMID:28443643   PMID:28514442   PMID:28515276   PMID:28533407   PMID:28611215  
PMID:28622508   PMID:28712289   PMID:28815871   PMID:28902428   PMID:28927264   PMID:28944577   PMID:28977666   PMID:28986522   PMID:29117863   PMID:29180619   PMID:29228324   PMID:29229926  
PMID:29298432   PMID:29331416   PMID:29395067   PMID:29449217   PMID:29467282   PMID:29478914   PMID:29507755   PMID:29511296   PMID:29676528   PMID:29721183   PMID:29777862   PMID:29802200  
PMID:29844126   PMID:29845934   PMID:29859926   PMID:29884807   PMID:29955894   PMID:29981443   PMID:30021884   PMID:30026490   PMID:30209976   PMID:30258100   PMID:30320910   PMID:30349055  
PMID:30352685   PMID:30404004   PMID:30413534   PMID:30425250   PMID:30442662   PMID:30455355   PMID:30459231   PMID:30463901   PMID:30575818   PMID:30619335   PMID:30711629   PMID:30804502  
PMID:30833792   PMID:30940648   PMID:30942445   PMID:30948266   PMID:30997501   PMID:31010829   PMID:31048545   PMID:31091453   PMID:31152661   PMID:31180492   PMID:31239290   PMID:31248990  
PMID:31253590   PMID:31267705   PMID:31300519   PMID:31311954   PMID:31331910   PMID:31501420   PMID:31527668   PMID:31536960   PMID:31586073   PMID:31640799   PMID:31665637   PMID:31694235  
PMID:31980649   PMID:31995728   PMID:32041737   PMID:32129710   PMID:32269044   PMID:32296183   PMID:32319732   PMID:32347575   PMID:32382008   PMID:32457219   PMID:32529326   PMID:32538781  
PMID:32552912   PMID:32665550   PMID:32698014   PMID:32786267   PMID:32807901   PMID:32814769   PMID:32850835   PMID:32905556   PMID:32929329   PMID:32989256   PMID:33022573   PMID:33040326  
PMID:33194618   PMID:33226137   PMID:33306668   PMID:33403043   PMID:33567341   PMID:33644029   PMID:33742100   PMID:33916271   PMID:33961781   PMID:34079125   PMID:34309414  


Genomics

Comparative Map Data
HNRNPU
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1244,840,638 - 244,864,560 (-)EnsemblGRCh38hg38GRCh38
GRCh381244,850,297 - 244,864,543 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371245,013,599 - 245,027,845 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361243,080,225 - 243,094,450 (-)NCBINCBI36hg18NCBI36
Build 341241,343,003 - 241,353,868NCBI
Celera1218,303,553 - 218,317,021 (-)NCBI
Cytogenetic Map1q44NCBI
HuRef1215,396,765 - 215,410,903 (-)NCBIHuRef
CHM1_11246,285,948 - 246,300,167 (-)NCBICHM1_1
Hnrnpu
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391178,148,673 - 178,170,063 (-)NCBIGRCm39mm39
GRCm39 Ensembl1178,148,673 - 178,165,362 (-)Ensembl
GRCm381178,321,108 - 178,338,891 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1178,321,108 - 178,337,797 (-)EnsemblGRCm38mm10GRCm38
MGSCv371180,258,431 - 180,267,915 (-)NCBIGRCm37mm9NCBIm37
MGSCv361180,165,990 - 180,174,387 (-)NCBImm8
Celera1185,387,923 - 185,397,431 (-)NCBICelera
Cytogenetic Map1H4NCBI
Hnrnpu
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21390,069,058 - 90,086,905 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1390,074,181 - 90,086,588 (-)Ensembl
Rnor_6.01396,222,093 - 96,238,845 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1396,225,912 - 96,238,572 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.013100,663,218 - 100,679,960 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41393,978,865 - 93,987,654 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11394,168,061 - 94,176,568 (-)NCBI
Celera1389,636,544 - 89,645,333 (-)NCBICelera
Cytogenetic Map13q25NCBI
Hnrnpu
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554068,000,269 - 8,021,554 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554068,000,269 - 8,021,554 (-)NCBIChiLan1.0ChiLan1.0
HNRNPU
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11225,830,663 - 225,842,031 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1225,817,899 - 225,842,031 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01220,450,218 - 220,461,412 (-)NCBIMhudiblu_PPA_v0panPan3
HNRNPU
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1735,832,956 - 35,842,898 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl735,833,988 - 35,843,754 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha735,302,229 - 35,316,897 (-)NCBI
ROS_Cfam_1.0735,653,977 - 35,672,359 (-)NCBI
UMICH_Zoey_3.1735,493,577 - 35,507,810 (-)NCBI
UNSW_CanFamBas_1.0735,509,582 - 35,522,877 (-)NCBI
UU_Cfam_GSD_1.0735,777,999 - 35,788,402 (-)NCBI
Hnrnpu
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934448,725,125 - 48,767,809 (-)NCBI
SpeTri2.0NW_0049365266,014,745 - 6,022,213 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HNRNPU
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1017,475,270 - 17,497,130 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11017,475,266 - 17,497,060 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21019,942,586 - 19,951,287 (-)NCBISscrofa10.2Sscrofa10.2susScr3
HNRNPU
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12581,879,532 - 81,890,684 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2581,878,111 - 81,890,701 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605584,093,092 - 84,115,743 (-)NCBIVero_WHO_p1.0
Hnrnpu
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462477114,756,088 - 14,766,106 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
SHGC-76627  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371245,019,642 - 245,019,791UniSTSGRCh37
Build 361243,086,265 - 243,086,414RGDNCBI36
Celera1218,309,593 - 218,309,742RGD
Cytogenetic Map1q44UniSTS
HuRef1215,402,804 - 215,402,953UniSTS
TNG Radiation Hybrid Map1124049.0UniSTS
GeneMap99-GB4 RH Map1755.35UniSTS
NCBI RH Map12010.6UniSTS
D1S3027  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371245,014,500 - 245,014,681UniSTSGRCh37
Build 361243,081,123 - 243,081,304RGDNCBI36
Celera1218,304,451 - 218,304,632RGD
Cytogenetic Map1q44UniSTS
HuRef1215,397,662 - 215,397,843UniSTS
Whitehead-YAC Contig Map1 UniSTS
WI-8450  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371245,017,062 - 245,017,383UniSTSGRCh37
Build 361243,083,685 - 243,084,006RGDNCBI36
Celera1218,307,013 - 218,307,334RGD
Cytogenetic Map1q44UniSTS
Whitehead-YAC Contig Map1 UniSTS
RH93803  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371245,028,207 - 245,028,392UniSTSGRCh37
Build 361243,094,830 - 243,095,015RGDNCBI36
Celera1218,317,401 - 218,317,586RGD
Cytogenetic Map1q44UniSTS
HuRef1215,411,283 - 215,411,468UniSTS
GeneMap99-GB4 RH Map1755.15UniSTS
RH92446  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371245,013,667 - 245,013,823UniSTSGRCh37
Build 361243,080,290 - 243,080,446RGDNCBI36
Celera1218,303,618 - 218,303,774RGD
Cytogenetic Map1q44UniSTS
HuRef1215,396,830 - 215,396,985UniSTS
GeneMap99-GB4 RH Map1755.25UniSTS
D14S1285  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371443,769,626 - 43,769,774UniSTSGRCh37
GRCh371245,017,779 - 245,018,775UniSTSGRCh37
Build 361442,839,376 - 42,839,524RGDNCBI36
Celera1218,307,730 - 218,308,726UniSTS
Celera1423,629,908 - 23,630,056RGD
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map1q44UniSTS
HuRef1215,400,941 - 215,401,937UniSTS
HuRef1423,879,242 - 23,879,390UniSTS
C86794  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371245,018,765 - 245,019,311UniSTSGRCh37
Build 361243,085,388 - 243,085,934RGDNCBI36
Celera1218,308,716 - 218,309,262RGD
HuRef1215,401,927 - 215,402,473UniSTS
HNRPU_1518  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371245,016,861 - 245,017,731UniSTSGRCh37
Build 361243,083,484 - 243,084,354RGDNCBI36
Celera1218,306,812 - 218,307,682RGD
HuRef1215,400,023 - 215,400,893UniSTS
WI-7584  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37753,574,092 - 53,574,433UniSTSGRCh37
GRCh371245,017,062 - 245,017,406UniSTSGRCh37
Build 361243,083,685 - 243,084,029RGDNCBI36
Celera1218,307,013 - 218,307,357RGD
Celera753,634,727 - 53,635,068UniSTS
Cytogenetic Map9p22.1UniSTS
Cytogenetic Map1q44UniSTS
HuRef1215,400,224 - 215,400,568UniSTS
HuRef753,423,053 - 53,423,394UniSTS
CRA_TCAGchr7v2753,579,502 - 53,579,843UniSTS
Whitehead-YAC Contig Map1 UniSTS
SHGC-76609  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371245,014,816 - 245,014,927UniSTSGRCh37
Build 361243,081,439 - 243,081,550RGDNCBI36
Celera1218,304,767 - 218,304,878RGD
Cytogenetic Map1q44UniSTS
HuRef1215,397,978 - 215,398,089UniSTS
TNG Radiation Hybrid Map1124041.0UniSTS
GeneMap99-GB4 RH Map1755.15UniSTS
NCBI RH Map12010.6UniSTS
RH18125  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37753,574,043 - 53,574,299UniSTSGRCh37
GRCh371245,017,197 - 245,017,455UniSTSGRCh37
Build 361243,083,820 - 243,084,078RGDNCBI36
Celera753,634,678 - 53,634,934UniSTS
Celera1218,307,148 - 218,307,406RGD
Cytogenetic Map1q44UniSTS
Cytogenetic Map9p22.1UniSTS
HuRef753,423,004 - 53,423,260UniSTS
HuRef1215,400,359 - 215,400,617UniSTS
CRA_TCAGchr7v2753,579,453 - 53,579,709UniSTS
GeneMap99-GB4 RH Map7246.28UniSTS
NCBI RH Map7726.8UniSTS
SHGC-76621  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371245,015,232 - 245,015,387UniSTSGRCh37
Build 361243,081,855 - 243,082,010RGDNCBI36
Celera1218,305,183 - 218,305,338RGD
Cytogenetic Map1q44UniSTS
HuRef1215,398,394 - 215,398,549UniSTS
TNG Radiation Hybrid Map1124045.0UniSTS
GeneMap99-GB4 RH Map1755.25UniSTS
Whitehead-RH Map1929.7UniSTS
NCBI RH Map12001.5UniSTS
A007A33  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371443,769,704 - 43,769,872UniSTSGRCh37
GRCh371245,017,681 - 245,018,318UniSTSGRCh37
Build 361442,839,454 - 42,839,622RGDNCBI36
Celera1218,307,632 - 218,308,269UniSTS
Celera1423,629,986 - 23,630,154RGD
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map1q44UniSTS
HuRef1423,879,320 - 23,879,488UniSTS
HuRef1215,400,843 - 215,401,480UniSTS
GeneMap99-GB4 RH Map14103.31UniSTS
NCBI RH Map14430.8UniSTS
GDB:6028664  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37753,574,168 - 53,574,433UniSTSGRCh37
GRCh371245,017,062 - 245,017,330UniSTSGRCh37
Build 361243,083,685 - 243,083,953RGDNCBI36
Celera1218,307,013 - 218,307,281RGD
Celera753,634,803 - 53,635,068UniSTS
Cytogenetic Map9p22.1UniSTS
Cytogenetic Map1q44UniSTS
HuRef1215,400,224 - 215,400,492UniSTS
HuRef753,423,129 - 53,423,394UniSTS
CRA_TCAGchr7v2753,579,578 - 53,579,843UniSTS
MARC_12257-12258:1008001094:5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371245,019,344 - 245,019,802UniSTSGRCh37
Build 361243,085,967 - 243,086,425RGDNCBI36
Celera1218,309,295 - 218,309,753RGD
HuRef1215,402,506 - 215,402,964UniSTS
MARC_20677-20678:1024509130:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371245,017,642 - 245,018,326UniSTSGRCh37
Build 361243,084,265 - 243,084,949RGDNCBI36
Celera1218,307,593 - 218,308,277RGD
HuRef1423,879,312 - 23,879,527UniSTS
HuRef1215,400,804 - 215,401,488UniSTS
MARC_26419-26420:1036768776:5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371245,017,056 - 245,017,557UniSTSGRCh37
Build 361243,083,679 - 243,084,180RGDNCBI36
Celera1218,307,007 - 218,307,508RGD
HuRef1215,400,218 - 215,400,719UniSTS
ksks277  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371245,017,794 - 245,018,286UniSTSGRCh37
Celera1218,307,745 - 218,308,237UniSTS
HuRef1215,400,956 - 215,401,448UniSTS
HNRPU  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371245,017,067 - 245,017,218UniSTSGRCh37
GRCh37753,574,278 - 53,574,428UniSTSGRCh37
Celera1218,307,018 - 218,307,169UniSTS
Celera753,634,913 - 53,635,063UniSTS
HuRef753,423,239 - 53,423,389UniSTS
HuRef1215,400,229 - 215,400,380UniSTS
CRA_TCAGchr7v2753,579,688 - 53,579,838UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR7-2hsa-miR-7-5pTarbaseexternal_infoSequencingPOSITIVE
MIR7-1hsa-miR-7-5pTarbaseexternal_infoSequencingPOSITIVE

Predicted Target Of
Summary Value
Count of predictions:1835
Count of miRNA genes:861
Interacting mature miRNAs:988
Transcripts:ENST00000283179, ENST00000366525, ENST00000440865, ENST00000444376, ENST00000465881, ENST00000468690, ENST00000476241, ENST00000483966
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 8
Medium 2432 2878 1717 616 1911 458 4355 2124 3682 416 1440 1608 171 1204 2788 4
Low 5 113 9 7 40 7 1 73 50 3 11 5 4 1 1 1
Below cutoff 1 1 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_031844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA773071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF068846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF448858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF461014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL138273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC024767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX323046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA733532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X65488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000283179   ⟹   ENSP00000283179
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1244,853,752 - 244,864,494 (-)Ensembl
RefSeq Acc Id: ENST00000366525
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1244,853,690 - 244,862,950 (-)Ensembl
RefSeq Acc Id: ENST00000366527
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1244,840,638 - 244,854,748 (-)Ensembl
RefSeq Acc Id: ENST00000440865   ⟹   ENSP00000410728
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1244,853,406 - 244,863,106 (-)Ensembl
RefSeq Acc Id: ENST00000444376   ⟹   ENSP00000393151
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1244,850,297 - 244,864,560 (-)Ensembl
RefSeq Acc Id: ENST00000465881
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1244,858,019 - 244,861,034 (-)Ensembl
RefSeq Acc Id: ENST00000468690
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1244,854,190 - 244,860,018 (-)Ensembl
RefSeq Acc Id: ENST00000475997   ⟹   ENSP00000482621
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1244,840,638 - 244,856,057 (-)Ensembl
RefSeq Acc Id: ENST00000476241
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1244,854,198 - 244,864,492 (-)Ensembl
RefSeq Acc Id: ENST00000483966   ⟹   ENSP00000492573
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1244,856,283 - 244,859,374 (-)Ensembl
RefSeq Acc Id: ENST00000489705   ⟹   ENSP00000479468
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1244,845,252 - 244,854,503 (-)Ensembl
RefSeq Acc Id: ENST00000638230   ⟹   ENSP00000492010
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1244,843,124 - 244,860,461 (-)Ensembl
RefSeq Acc Id: ENST00000638301   ⟹   ENSP00000491807
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1244,855,004 - 244,862,375 (-)Ensembl
RefSeq Acc Id: ENST00000638475   ⟹   ENSP00000491305
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1244,853,939 - 244,864,091 (-)Ensembl
RefSeq Acc Id: ENST00000638589
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1244,858,048 - 244,861,665 (-)Ensembl
RefSeq Acc Id: ENST00000638716   ⟹   ENSP00000491601
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1244,853,467 - 244,860,536 (-)Ensembl
RefSeq Acc Id: ENST00000638952
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1244,853,467 - 244,864,538 (-)Ensembl
RefSeq Acc Id: ENST00000639064
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1244,854,206 - 244,857,227 (-)Ensembl
RefSeq Acc Id: ENST00000639628   ⟹   ENSP00000491340
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1244,853,418 - 244,862,387 (-)Ensembl
RefSeq Acc Id: ENST00000639667
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1244,857,262 - 244,862,381 (-)Ensembl
RefSeq Acc Id: ENST00000639824   ⟹   ENSP00000491903
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1244,853,982 - 244,858,080 (-)Ensembl
RefSeq Acc Id: ENST00000639880   ⟹   ENSP00000490988
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1244,853,696 - 244,862,381 (-)Ensembl
RefSeq Acc Id: ENST00000640001   ⟹   ENSP00000491294
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1244,854,200 - 244,862,381 (-)Ensembl
RefSeq Acc Id: ENST00000640056   ⟹   ENSP00000492620
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1244,854,206 - 244,863,653 (-)Ensembl
RefSeq Acc Id: ENST00000640119   ⟹   ENSP00000491491
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1244,855,526 - 244,856,850 (-)Ensembl
RefSeq Acc Id: ENST00000640218   ⟹   ENSP00000491215
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1244,850,297 - 244,864,543 (-)Ensembl
RefSeq Acc Id: ENST00000640264
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1244,846,625 - 244,855,597 (-)Ensembl
RefSeq Acc Id: ENST00000640306   ⟹   ENSP00000491685
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1244,845,200 - 244,864,488 (-)Ensembl
RefSeq Acc Id: ENST00000640440   ⟹   ENSP00000491263
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1244,858,165 - 244,864,007 (-)Ensembl
RefSeq Acc Id: ENST00000640657
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1244,843,768 - 244,848,889 (-)Ensembl
RefSeq Acc Id: ENST00000649899
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1244,840,687 - 244,864,531 (-)Ensembl
RefSeq Acc Id: NM_004501   ⟹   NP_004492
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381244,850,300 - 244,864,525 (-)NCBI
GRCh371245,013,602 - 245,027,827 (-)ENTREZGENE
Build 361243,080,225 - 243,094,450 (-)NCBI Archive
HuRef1215,396,765 - 215,410,903 (-)ENTREZGENE
CHM1_11246,285,948 - 246,300,167 (-)NCBI
Sequence:
RefSeq Acc Id: NM_031844   ⟹   NP_114032
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381244,850,297 - 244,864,543 (-)NCBI
GRCh371245,013,602 - 245,027,827 (-)ENTREZGENE
Build 361243,080,225 - 243,094,450 (-)NCBI Archive
HuRef1215,396,765 - 215,410,903 (-)ENTREZGENE
CHM1_11246,285,948 - 246,300,167 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004492   ⟸   NM_004501
- Peptide Label: isoform b
- UniProtKB: Q00839 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_114032   ⟸   NM_031844
- Peptide Label: isoform a
- UniProtKB: Q00839 (UniProtKB/Swiss-Prot),   Q96BA7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000491601   ⟸   ENST00000638716
RefSeq Acc Id: ENSP00000491305   ⟸   ENST00000638475
RefSeq Acc Id: ENSP00000491807   ⟸   ENST00000638301
RefSeq Acc Id: ENSP00000492010   ⟸   ENST00000638230
RefSeq Acc Id: ENSP00000491903   ⟸   ENST00000639824
RefSeq Acc Id: ENSP00000490988   ⟸   ENST00000639880
RefSeq Acc Id: ENSP00000491340   ⟸   ENST00000639628
RefSeq Acc Id: ENSP00000283179   ⟸   ENST00000283179
RefSeq Acc Id: ENSP00000410728   ⟸   ENST00000440865
RefSeq Acc Id: ENSP00000492573   ⟸   ENST00000483966
RefSeq Acc Id: ENSP00000393151   ⟸   ENST00000444376
RefSeq Acc Id: ENSP00000491215   ⟸   ENST00000640218
RefSeq Acc Id: ENSP00000491491   ⟸   ENST00000640119
RefSeq Acc Id: ENSP00000491294   ⟸   ENST00000640001
RefSeq Acc Id: ENSP00000492620   ⟸   ENST00000640056
RefSeq Acc Id: ENSP00000491263   ⟸   ENST00000640440
RefSeq Acc Id: ENSP00000491685   ⟸   ENST00000640306
RefSeq Acc Id: ENSP00000479468   ⟸   ENST00000489705
RefSeq Acc Id: ENSP00000482621   ⟸   ENST00000475997
Protein Domains
B30.2/SPRY   SAP

Promoters
RGD ID:6814892
Promoter ID:HG_MRA:1639
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:AK095525,   CR624054
Position:
Human AssemblyChrPosition (strand)Source
Build 361243,082,571 - 243,083,071 (-)MPROMDB
RGD ID:6785732
Promoter ID:HG_KWN:8153
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:OTTHUMT00000097403
Position:
Human AssemblyChrPosition (strand)Source
Build 361243,086,606 - 243,087,737 (-)MPROMDB
RGD ID:6786800
Promoter ID:HG_KWN:8154
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000097402,   OTTHUMT00000097404,   UC001IAW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361243,087,956 - 243,089,317 (-)MPROMDB
RGD ID:6786799
Promoter ID:HG_KWN:8155
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Jurkat,   Lymphoblastoid,   NB4
Transcripts:UC001IAX.1,   UC001IAY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361243,090,386 - 243,091,892 (-)MPROMDB
RGD ID:6785733
Promoter ID:HG_KWN:8156
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000097164
Position:
Human AssemblyChrPosition (strand)Source
Build 361243,092,581 - 243,093,307 (-)MPROMDB
RGD ID:6785731
Promoter ID:HG_KWN:8157
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_031844,   OTTHUMT00000097162,   UC001IBB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361243,093,716 - 243,095,157 (-)MPROMDB
RGD ID:6859462
Promoter ID:EPDNEW_H2896
Type:initiation region
Name:HNRNPU_2
Description:heterogeneous nuclear ribonucleoprotein U
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2897  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381244,862,394 - 244,862,454EPDNEW
RGD ID:6859464
Promoter ID:EPDNEW_H2897
Type:initiation region
Name:HNRNPU_1
Description:heterogeneous nuclear ribonucleoprotein U
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2896  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381244,864,483 - 244,864,543EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_031844.3(HNRNPU):c.1674dup (p.Ala559fs) duplication Intellectual disability [RCV001526520] Chr1:244856796..244856797 [GRCh38]
Chr1:245020098..245020099 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.1669C>T (p.Gln557Ter) single nucleotide variant not provided [RCV000627274] Chr1:244856802 [GRCh38]
Chr1:245020104 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.837A>T (p.Glu279Asp) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000639394] Chr1:244862501 [GRCh38]
Chr1:245025803 [GRCh37]
Chr1:1q44
likely benign|uncertain significance
NM_031844.3(HNRNPU):c.1536C>T (p.Thr512=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000639407] Chr1:244857676 [GRCh38]
Chr1:245020978 [GRCh37]
Chr1:1q44
likely benign
GRCh38/hg38 1q44(chr1:243677224-244923447)x1 copy number loss See cases [RCV000050929] Chr1:243677224..244923447 [GRCh38]
Chr1:243840526..245086749 [GRCh37]
Chr1:241907149..243153372 [NCBI36]
Chr1:1q44
pathogenic
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q42.3-44(chr1:236237049-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|See cases [RCV000051883] Chr1:236237049..248918469 [GRCh38]
Chr1:236400349..249212668 [GRCh37]
Chr1:234466972..247179291 [NCBI36]
Chr1:1q42.3-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239657468-248918610)x3 copy number gain See cases [RCV000051886] Chr1:239657468..248918610 [GRCh38]
Chr1:239820768..249212809 [GRCh37]
Chr1:237887391..247179432 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3 copy number gain See cases [RCV000051888] Chr1:240244444..248891309 [GRCh38]
Chr1:240407744..249185508 [GRCh37]
Chr1:238474367..247152131 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:242828731-248891309)x3 copy number gain See cases [RCV000053504] Chr1:242828731..248891309 [GRCh38]
Chr1:242992033..249185508 [GRCh37]
Chr1:241058656..247152131 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:243055227-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053506]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053506]|See cases [RCV000053506] Chr1:243055227..248918469 [GRCh38]
Chr1:243218529..249212668 [GRCh37]
Chr1:241285152..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q42.2-44(chr1:232097468-248918610)x1 copy number loss See cases [RCV000053985] Chr1:232097468..248918610 [GRCh38]
Chr1:232233214..249212809 [GRCh37]
Chr1:230299837..247179432 [NCBI36]
Chr1:1q42.2-44
pathogenic
GRCh38/hg38 1q43-44(chr1:237041745-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053989]|See cases [RCV000053989] Chr1:237041745..248918469 [GRCh38]
Chr1:237205045..249212668 [GRCh37]
Chr1:235271668..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238061020-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053991]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053991]|See cases [RCV000053991] Chr1:238061020..248918469 [GRCh38]
Chr1:238224320..249212668 [GRCh37]
Chr1:236290943..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239496961-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053993]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053993]|See cases [RCV000053993] Chr1:239496961..248918469 [GRCh38]
Chr1:239660261..249212668 [GRCh37]
Chr1:237726884..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1 copy number loss See cases [RCV000054023] Chr1:239558430..248918469 [GRCh38]
Chr1:239721730..249212668 [GRCh37]
Chr1:237788353..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1 copy number loss See cases [RCV000054024] Chr1:239629868..248924593 [GRCh38]
Chr1:239793168..249218792 [GRCh37]
Chr1:237859791..247185415 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1 copy number loss See cases [RCV000054025] Chr1:241047422..248924593 [GRCh38]
Chr1:241210722..249218792 [GRCh37]
Chr1:239277345..247185415 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:241459440-247704671)x1 copy number loss See cases [RCV000054026] Chr1:241459440..247704671 [GRCh38]
Chr1:241622740..247867973 [GRCh37]
Chr1:239689363..245934596 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:241676908-245647727)x1 copy number loss See cases [RCV000054027] Chr1:241676908..245647727 [GRCh38]
Chr1:241840210..245811029 [GRCh37]
Chr1:239906833..243877652 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:241757249-248891309)x1 copy number loss See cases [RCV000054028] Chr1:241757249..248891309 [GRCh38]
Chr1:241920551..249185508 [GRCh37]
Chr1:239987174..247152131 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:242076868-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054029]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054029]|See cases [RCV000054029] Chr1:242076868..248918469 [GRCh38]
Chr1:242240170..249212668 [GRCh37]
Chr1:240306793..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:242240797-245200164)x1 copy number loss See cases [RCV000054030] Chr1:242240797..245200164 [GRCh38]
Chr1:242404099..245363466 [GRCh37]
Chr1:240470722..243430089 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:242410569-245413313)x1 copy number loss See cases [RCV000054031] Chr1:242410569..245413313 [GRCh38]
Chr1:242573871..245576615 [GRCh37]
Chr1:240640494..243643238 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:243225391-245289313)x1 copy number loss See cases [RCV000054032] Chr1:243225391..245289313 [GRCh38]
Chr1:243388693..245452615 [GRCh37]
Chr1:241455316..243519238 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q44(chr1:243786629-248918469)x1 copy number loss See cases [RCV000054061] Chr1:243786629..248918469 [GRCh38]
Chr1:243949931..249212668 [GRCh37]
Chr1:242016554..247179291 [NCBI36]
Chr1:1q44
pathogenic
GRCh38/hg38 1q44(chr1:244222222-245502219)x1 copy number loss See cases [RCV000054062] Chr1:244222222..245502219 [GRCh38]
Chr1:244385524..245665521 [GRCh37]
Chr1:242452147..243732144 [NCBI36]
Chr1:1q44
pathogenic
GRCh38/hg38 1q44(chr1:244222222-246492114)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054063]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054063]|See cases [RCV000054063] Chr1:244222222..246492114 [GRCh38]
Chr1:244385524..246655416 [GRCh37]
Chr1:242452147..244722039 [NCBI36]
Chr1:1q44
pathogenic
GRCh38/hg38 1q44(chr1:244498870-248918610)x1 copy number loss See cases [RCV000054064] Chr1:244498870..248918610 [GRCh38]
Chr1:244662172..249212809 [GRCh37]
Chr1:242728795..247179432 [NCBI36]
Chr1:1q44
pathogenic
GRCh38/hg38 1q44(chr1:244582123-245762379)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054065]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054065]|See cases [RCV000054065] Chr1:244582123..245762379 [GRCh38]
Chr1:244745425..245925681 [GRCh37]
Chr1:242812048..243992304 [NCBI36]
Chr1:1q44
pathogenic
GRCh38/hg38 1q44(chr1:244692061-245647727)x1 copy number loss See cases [RCV000054066] Chr1:244692061..245647727 [GRCh38]
Chr1:244855363..245811029 [GRCh37]
Chr1:242921986..243877652 [NCBI36]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.878-10A>G single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001349315] Chr1:244860484 [GRCh38]
Chr1:245023786 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1064A>T (p.Asp355Val) single nucleotide variant Epileptic encephalopathy, early infantile, 54 [RCV001253124] Chr1:244859328 [GRCh38]
Chr1:245022630 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1744-47G>A single nucleotide variant not provided [RCV001564875] Chr1:244856672 [GRCh38]
Chr1:245019974 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.2111G>A (p.Gly704Asp) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001302642] Chr1:244855960 [GRCh38]
Chr1:245019262 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.255GGA[1] (p.Glu93_Glu94del) microsatellite heterogeneous nuclear ribonucleoprotein G, human [RCV001062581] Chr1:244864045..244864050 [GRCh38]
Chr1:245027347..245027352 [GRCh37]
Chr1:1q44
likely benign|uncertain significance
NM_031844.3(HNRNPU):c.1405A>G (p.Ile469Val) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001348913] Chr1:244858100 [GRCh38]
Chr1:245021402 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.553G>A (p.Gly185Arg) single nucleotide variant Epileptic encephalopathy, early infantile, 54 [RCV001333300] Chr1:244863755 [GRCh38]
Chr1:245027057 [GRCh37]
Chr1:1q44
uncertain significance
GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1 copy number loss See cases [RCV000134751] Chr1:238753749..248918467 [GRCh38]
Chr1:238917049..249212666 [GRCh37]
Chr1:236983672..247179289 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1 copy number loss See cases [RCV000134172] Chr1:238351121..248918469 [GRCh38]
Chr1:238514421..249212668 [GRCh37]
Chr1:236581044..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q44(chr1:244582123-248918469)x1 copy number loss See cases [RCV000135611] Chr1:244582123..248918469 [GRCh38]
Chr1:244745425..249212668 [GRCh37]
Chr1:242812048..247179291 [NCBI36]
Chr1:1q44
pathogenic
GRCh38/hg38 1q43-44(chr1:241625115-245453782)x3 copy number gain See cases [RCV000136503] Chr1:241625115..245453782 [GRCh38]
Chr1:241788417..245617084 [GRCh37]
Chr1:239855040..243683707 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3 copy number gain See cases [RCV000136666] Chr1:229022909..248918469 [GRCh38]
Chr1:229158656..249212668 [GRCh37]
Chr1:227225279..247179291 [NCBI36]
Chr1:1q42.13-44
pathogenic
GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1 copy number loss See cases [RCV000137554] Chr1:236556082..248918469 [GRCh38]
Chr1:236719382..249212668 [GRCh37]
Chr1:234786005..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:242932576-248864636)x4 copy number gain See cases [RCV000137155] Chr1:242932576..248864636 [GRCh38]
Chr1:243095878..249158835 [GRCh37]
Chr1:241162501..247125458 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1 copy number loss See cases [RCV000137260] Chr1:240465122..248918469 [GRCh38]
Chr1:240628422..249212668 [GRCh37]
Chr1:238695045..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44
pathogenic
GRCh38/hg38 1q43-44(chr1:241967139-245542967)x3 copy number gain See cases [RCV000138233] Chr1:241967139..245542967 [GRCh38]
Chr1:242130441..245706269 [GRCh37]
Chr1:240197064..243772892 [NCBI36]
Chr1:1q43-44
likely pathogenic
NM_031844.3(HNRNPU):c.607G>A (p.Ala203Thr) single nucleotide variant not specified [RCV000202916] Chr1:244863701 [GRCh38]
Chr1:245027003 [GRCh37]
Chr1:1q44
uncertain significance
GRCh38/hg38 1q43-44(chr1:242782194-245138126)x3 copy number gain See cases [RCV000140438] Chr1:242782194..245138126 [GRCh38]
Chr1:242945496..245301428 [GRCh37]
Chr1:241012119..243368051 [NCBI36]
Chr1:1q43-44
uncertain significance
GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1 copy number loss See cases [RCV000139889] Chr1:242045279..248930485 [GRCh38]
Chr1:242208581..249224684 [GRCh37]
Chr1:240275204..247191307 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1 copy number loss See cases [RCV000140039] Chr1:238033575..248924534 [GRCh38]
Chr1:238196875..249218733 [GRCh37]
Chr1:236263498..247185356 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 copy number gain See cases [RCV000142448] Chr1:225438480..248787200 [GRCh38]
Chr1:225626182..249060210 [GRCh37]
Chr1:223692805..247048022 [NCBI36]
Chr1:1q42.12-44
pathogenic
GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1 copy number loss See cases [RCV000142518] Chr1:237643281..248918469 [GRCh38]
Chr1:237806581..249212668 [GRCh37]
Chr1:235873204..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1 copy number loss See cases [RCV000143374] Chr1:238192880..248930485 [GRCh38]
Chr1:238356180..249224684 [GRCh37]
Chr1:236422803..247191307 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44
pathogenic
NM_031844.3(HNRNPU):c.2304_2305del (p.Gly769fs) microsatellite Intellectual disability and seizures [RCV000185558] Chr1:244855471..244855472 [GRCh38]
Chr1:245018773..245018774 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.67C>T (p.Arg23Ter) single nucleotide variant Epileptic encephalopathy, early infantile, 54 [RCV000209838] Chr1:244864241 [GRCh38]
Chr1:245027543 [GRCh37]
Chr1:1q44
likely pathogenic
NM_031844.3(HNRNPU):c.2299_2302del (p.Asn767fs) deletion Inborn genetic diseases [RCV000624065]|heterogeneous nuclear ribonucleoprotein G, human [RCV000227748] Chr1:244855474..244855477 [GRCh38]
Chr1:245018776..245018779 [GRCh37]
Chr1:1q44
pathogenic|uncertain significance
GRCh37/hg19 1q43-44(chr1:242324398-249224684)x4 copy number gain See cases [RCV000511337] Chr1:242324398..249224684 [GRCh37]
Chr1:1q43-44
likely pathogenic
GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3 copy number gain See cases [RCV000240034] Chr1:234050864..249213059 [GRCh37]
Chr1:1q42.2-44
pathogenic
GRCh37/hg19 1q43-44(chr1:242357208-246378823)x1 copy number loss See cases [RCV000240515] Chr1:242357208..246378823 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q43-44(chr1:243103401-249119318)x1 copy number loss See cases [RCV000240522] Chr1:243103401..249119318 [GRCh37]
Chr1:1q43-44
pathogenic
NM_031844.3(HNRNPU):c.520C>T (p.Gln174Ter) single nucleotide variant not provided [RCV000351851] Chr1:244863788 [GRCh38]
Chr1:245027090 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.1681C>T (p.Gln561Ter) single nucleotide variant not provided [RCV000523247] Chr1:244856790 [GRCh38]
Chr1:245020092 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.692-345G>A single nucleotide variant not provided [RCV001574583] Chr1:244863075 [GRCh38]
Chr1:245026377 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.2085dup (p.Gly696fs) duplication History of neurodevelopmental disorder [RCV000720152]|Inborn genetic diseases [RCV000623960] Chr1:244855985..244855986 [GRCh38]
Chr1:245019287..245019288 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.253dup (p.Glu85fs) duplication not provided [RCV000598756] Chr1:244864054..244864055 [GRCh38]
Chr1:245027356..245027357 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.1450C>T (p.Arg484Ter) single nucleotide variant not provided [RCV000627344] Chr1:244858055 [GRCh38]
Chr1:245021357 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.316_322del (p.Leu106fs) deletion not provided [RCV000523788] Chr1:244863986..244863992 [GRCh38]
Chr1:245027288..245027294 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.401_402del (p.Asp134fs) deletion Epileptic encephalopathy, early infantile, 54 [RCV000585859] Chr1:244863906..244863907 [GRCh38]
Chr1:245027208..245027209 [GRCh37]
Chr1:1q44
likely pathogenic
NM_031844.3(HNRNPU):c.1477G>A (p.Glu493Lys) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000639396] Chr1:244858028 [GRCh38]
Chr1:245021330 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1137dup (p.Gly380fs) duplication heterogeneous nuclear ribonucleoprotein G, human [RCV000639400] Chr1:244858821..244858822 [GRCh38]
Chr1:245022123..245022124 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.1117+10_1117+12del microsatellite heterogeneous nuclear ribonucleoprotein G, human [RCV000639408] Chr1:244859263..244859265 [GRCh38]
Chr1:245022565..245022567 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.743_749del (p.Arg248fs) deletion not provided [RCV000523913] Chr1:244862673..244862679 [GRCh38]
Chr1:245025975..245025981 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.831AGA[2] (p.Glu279del) microsatellite heterogeneous nuclear ribonucleoprotein G, human [RCV000704254]|not provided [RCV000412787] Chr1:244862499..244862501 [GRCh38]
Chr1:245025801..245025803 [GRCh37]
Chr1:1q44
likely pathogenic|uncertain significance
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44
pathogenic
GRCh37/hg19 1q42.3-44(chr1:236515525-249224684)x3 copy number gain See cases [RCV000449458] Chr1:236515525..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
NM_031844.3(HNRNPU):c.1865_1867del (p.Glu622del) deletion not provided [RCV000522989] Chr1:244856502..244856504 [GRCh38]
Chr1:245019804..245019806 [GRCh37]
Chr1:1q44
uncertain significance
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1q43-44(chr1:237233879-249206548)x1 copy number loss See cases [RCV000447669] Chr1:237233879..249206548 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q43-44(chr1:239781260-249224684)x3 copy number gain See cases [RCV000447584] Chr1:239781260..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q42.3-44(chr1:235374095-249224684)x1 copy number loss See cases [RCV000447426] Chr1:235374095..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1q43-44(chr1:241094652-246670839)x1 copy number loss See cases [RCV000446261] Chr1:241094652..246670839 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q42.2-44(chr1:231670870-249213000)x3 copy number gain See cases [RCV000447654] Chr1:231670870..249213000 [GRCh37]
Chr1:1q42.2-44
pathogenic
NM_031844.3(HNRNPU):c.1812dup (p.Val605fs) duplication Epileptic encephalopathy, early infantile, 54 [RCV000445555] Chr1:244856556..244856557 [GRCh38]
Chr1:245019858..245019859 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.511C>T (p.Gln171Ter) single nucleotide variant Epileptic encephalopathy, early infantile, 54 [RCV000445561] Chr1:244863797 [GRCh38]
Chr1:245027099 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.149_156del (p.Arg50fs) deletion Seizures [RCV000680008] Chr1:244864152..244864159 [GRCh38]
Chr1:245027454..245027461 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.2471_2472delinsGA (p.Tyr824Ter) indel Epileptic encephalopathy, early infantile, 54 [RCV000445557] Chr1:244854456..244854457 [GRCh38]
Chr1:245017758..245017759 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.596dup (p.Pro200fs) duplication Intellectual disability [RCV000505258] Chr1:244863711..244863712 [GRCh38]
Chr1:245027013..245027014 [GRCh37]
Chr1:1q44
likely pathogenic
NM_031844.3(HNRNPU):c.353C>A (p.Ser118Ter) single nucleotide variant not provided [RCV000424048] Chr1:244863955 [GRCh38]
Chr1:245027257 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.1167C>T (p.Cys389=) single nucleotide variant not specified [RCV000432775] Chr1:244858792 [GRCh38]
Chr1:245022094 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.628dup (p.Ala210fs) duplication not provided [RCV000433810] Chr1:244863679..244863680 [GRCh38]
Chr1:245026981..245026982 [GRCh37]
Chr1:1q44
pathogenic
GRCh37/hg19 1q43-44(chr1:241601964-249224684)x1 copy number loss See cases [RCV000448028] Chr1:241601964..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q43-44(chr1:242656460-249213000)x3 copy number gain See cases [RCV000448507] Chr1:242656460..249213000 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q44(chr1:244385524-246707775)x1 copy number loss See cases [RCV000448712] Chr1:244385524..246707775 [GRCh37]
Chr1:1q44
pathogenic
GRCh37/hg19 1q44(chr1:244517415-246324760)x1 copy number loss See cases [RCV000448270] Chr1:244517415..246324760 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.288C>T (p.Ile96=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001415231]|not provided [RCV000470234] Chr1:244864020 [GRCh38]
Chr1:245027322 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.141C>T (p.Ala47=) single nucleotide variant History of neurodevelopmental disorder [RCV000717662]|heterogeneous nuclear ribonucleoprotein G, human [RCV001082347]|not provided [RCV000711968] Chr1:244864167 [GRCh38]
Chr1:245027469 [GRCh37]
Chr1:1q44
benign|likely benign
NM_031844.3(HNRNPU):c.1268A>G (p.Lys423Arg) single nucleotide variant History of neurodevelopmental disorder [RCV000720457]|heterogeneous nuclear ribonucleoprotein G, human [RCV000470484] Chr1:244858237 [GRCh38]
Chr1:245021539 [GRCh37]
Chr1:1q44
likely benign
NM_198076.5(COX20):c.*14_*15insAGAAA insertion not specified [RCV000483824] Chr1:244843190..244843191 [GRCh38]
Chr1:245006492..245006493 [GRCh37]
Chr1:1q44
benign
GRCh37/hg19 1q44(chr1:244879310-246176769)x3 copy number gain See cases [RCV000512086] Chr1:244879310..246176769 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1518del (p.Gly507fs) deletion not provided [RCV000482404] Chr1:244857694 [GRCh38]
Chr1:245020996 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.1319C>A (p.Ala440Asp) single nucleotide variant Epileptic encephalopathy, early infantile, 54 [RCV000763847]|heterogeneous nuclear ribonucleoprotein G, human [RCV000460355] Chr1:244858186 [GRCh38]
Chr1:245021488 [GRCh37]
Chr1:1q44
benign|uncertain significance
NM_031844.3(HNRNPU):c.2466A>T (p.Gln822His) single nucleotide variant not provided [RCV000480911] Chr1:244854462 [GRCh38]
Chr1:245017764 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.981T>C (p.Tyr327=) single nucleotide variant Epileptic encephalopathy, early infantile, 54 [RCV000464439]|heterogeneous nuclear ribonucleoprotein G, human [RCV001471446] Chr1:244860371 [GRCh38]
Chr1:245023673 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.875C>T (p.Thr292Ile) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000464470]|not provided [RCV001534908] Chr1:244862463 [GRCh38]
Chr1:245025765 [GRCh37]
Chr1:1q44
likely benign|uncertain significance
NM_031844.3(HNRNPU):c.1215G>A (p.Val405=) single nucleotide variant History of neurodevelopmental disorder [RCV000717064]|heterogeneous nuclear ribonucleoprotein G, human [RCV001083861]|not provided [RCV000711967] Chr1:244858744 [GRCh38]
Chr1:245022046 [GRCh37]
Chr1:1q44
benign|likely benign
NM_031844.3(HNRNPU):c.1329A>G (p.Pro443=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000464930] Chr1:244858176 [GRCh38]
Chr1:245021478 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1118-7_1118-3del deletion heterogeneous nuclear ribonucleoprotein G, human [RCV000800979]|not provided [RCV000485202] Chr1:244858844..244858848 [GRCh38]
Chr1:245022146..245022150 [GRCh37]
Chr1:1q44
pathogenic|likely pathogenic|uncertain significance
null single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000461280]|not provided [RCV001692128] Chr1:244858045 [GRCh38]
Chr1:245021347 [GRCh37]
Chr1:1q44
benign|uncertain significance
NM_031844.3(HNRNPU):c.1743+8G>T single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000461331]|not provided [RCV001551853] Chr1:244856720 [GRCh38]
Chr1:245020022 [GRCh37]
Chr1:1q44
benign|likely benign
NM_031844.3(HNRNPU):c.2169C>T (p.Ala723=) single nucleotide variant History of neurodevelopmental disorder [RCV000715861]|heterogeneous nuclear ribonucleoprotein G, human [RCV001082667]|not provided [RCV000516452] Chr1:244855607 [GRCh38]
Chr1:245018909 [GRCh37]
Chr1:1q44
benign|likely benign
NM_031844.3(HNRNPU):c.550_571dup (p.Thr191fs) duplication not provided [RCV000478096] Chr1:244863736..244863737 [GRCh38]
Chr1:245027038..245027039 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.1743+10A>C single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001081737]|not provided [RCV000711970] Chr1:244856718 [GRCh38]
Chr1:245020020 [GRCh37]
Chr1:1q44
benign
NM_031844.3(HNRNPU):c.1272T>C (p.Asn424=) single nucleotide variant Epileptic encephalopathy, early infantile, 54 [RCV000462030]|heterogeneous nuclear ribonucleoprotein G, human [RCV001491343] Chr1:244858233 [GRCh38]
Chr1:245021535 [GRCh37]
Chr1:1q44
likely benign
null single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000458494]|not provided [RCV001675904] Chr1:244855583 [GRCh38]
Chr1:245018885 [GRCh37]
Chr1:1q44
benign|likely benign
NM_031844.3(HNRNPU):c.2247C>T (p.Ile749=) single nucleotide variant Epileptic encephalopathy, early infantile, 54 [RCV000473449] Chr1:244855529 [GRCh38]
Chr1:245018831 [GRCh37]
Chr1:1q44
likely benign
GRCh37/hg19 1q43-44(chr1:240620284-247690417)x1 copy number loss See cases [RCV000512075] Chr1:240620284..247690417 [GRCh37]
Chr1:1q43-44
pathogenic
NM_031844.3(HNRNPU):c.307C>T (p.Gln103Ter) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000473765] Chr1:244864001 [GRCh38]
Chr1:245027303 [GRCh37]
Chr1:1q44
pathogenic|uncertain significance
NM_031844.3(HNRNPU):c.1288G>A (p.Val430Ile) single nucleotide variant Epileptic encephalopathy, early infantile, 54 [RCV000473783]|heterogeneous nuclear ribonucleoprotein G, human [RCV001295836] Chr1:244858217 [GRCh38]
Chr1:245021519 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.16delinsATT (p.Val6fs) indel Epileptic encephalopathy, early infantile, 54 [RCV000496156] Chr1:244864292 [GRCh38]
Chr1:245027594 [GRCh37]
Chr1:1q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q42.3-44(chr1:235797384-249224684)x1 copy number loss See cases [RCV000510546] Chr1:235797384..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1q44(chr1:244197791-249224684)x4 copy number gain See cases [RCV000510563] Chr1:244197791..249224684 [GRCh37]
Chr1:1q44
likely pathogenic
NM_031844.3(HNRNPU):c.2270_2271del (p.Pro757fs) deletion Epileptic encephalopathy [RCV000496120]|not provided [RCV000598970] Chr1:244855505..244855506 [GRCh38]
Chr1:245018807..245018808 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.1089G>A (p.Trp363Ter) single nucleotide variant Epileptic encephalopathy [RCV000496124] Chr1:244859303 [GRCh38]
Chr1:245022605 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.1714C>T (p.Arg572Ter) single nucleotide variant Epileptic encephalopathy [RCV000496151]|Seizures [RCV000680009] Chr1:244856757 [GRCh38]
Chr1:245020059 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.651_660del (p.Gly218fs) deletion Epileptic encephalopathy [RCV000496191]|Epileptic encephalopathy, early infantile, 54 [RCV001169868]|heterogeneous nuclear ribonucleoprotein G, human [RCV001389132]|not provided [RCV001551156] Chr1:244863648..244863657 [GRCh38]
Chr1:245026950..245026959 [GRCh37]
Chr1:1q44
pathogenic|uncertain significance
NM_031844.3(HNRNPU):c.664G>A (p.Gly222Ser) single nucleotide variant not specified [RCV000503196] Chr1:244863644 [GRCh38]
Chr1:245026946 [GRCh37]
Chr1:1q44
uncertain significance
GRCh37/hg19 1q44(chr1:244281222-247789907)x3 copy number gain See cases [RCV000511438] Chr1:244281222..247789907 [GRCh37]
Chr1:1q44
uncertain significance
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_031844.3(HNRNPU):c.1230+5G>A single nucleotide variant Epileptic encephalopathy, early infantile, 54 [RCV000754785]|not provided [RCV000578651] Chr1:244858724 [GRCh38]
Chr1:245022026 [GRCh37]
Chr1:1q44
pathogenic|likely pathogenic
NM_031844.3(HNRNPU):c.2199G>T (p.Arg733Ser) single nucleotide variant Inborn genetic diseases [RCV000624368] Chr1:244855577 [GRCh38]
Chr1:245018879 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1952A>C (p.Glu651Ala) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000639397] Chr1:244856119 [GRCh38]
Chr1:245019421 [GRCh37]
Chr1:1q44
benign|uncertain significance
null microsatellite Epileptic encephalopathy, early infantile, 54 [RCV000515617]|heterogeneous nuclear ribonucleoprotein G, human [RCV000544136]|not provided [RCV001662523] Chr1:244863932..244863934 [GRCh38]
Chr1:245027234..245027236 [GRCh37]
Chr1:1q44
likely benign|uncertain significance
NM_031844.3(HNRNPU):c.1081A>G (p.Ile361Val) single nucleotide variant Epileptic encephalopathy, early infantile, 54 [RCV000515618]|heterogeneous nuclear ribonucleoprotein G, human [RCV000542335] Chr1:244859311 [GRCh38]
Chr1:245022613 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1516C>T (p.Pro506Ser) single nucleotide variant Inborn genetic diseases [RCV000623746] Chr1:244857696 [GRCh38]
Chr1:245020998 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1642G>A (p.Asp548Asn) single nucleotide variant Epileptic encephalopathy, early infantile, 54 [RCV000515624]|heterogeneous nuclear ribonucleoprotein G, human [RCV000552363] Chr1:244856829 [GRCh38]
Chr1:245020131 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.83A>G (p.Lys28Arg) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000515629]|not provided [RCV000557110] Chr1:244864225 [GRCh38]
Chr1:245027527 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1000G>C (p.Val334Leu) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000639393] Chr1:244860352 [GRCh38]
Chr1:245023654 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.393G>A (p.Glu131=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000639405] Chr1:244863915 [GRCh38]
Chr1:245027217 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.970A>G (p.Arg324Gly) single nucleotide variant Inborn genetic diseases [RCV000624862] Chr1:244860382 [GRCh38]
Chr1:245023684 [GRCh37]
Chr1:1q44
likely pathogenic
NM_031844.3(HNRNPU):c.2319_2320del (p.Gly774fs) microsatellite not provided [RCV000522673] Chr1:244855456..244855457 [GRCh38]
Chr1:245018758..245018759 [GRCh37]
Chr1:1q44
likely pathogenic
NM_031844.3(HNRNPU):c.429T>C (p.Asp143=) single nucleotide variant Epileptic encephalopathy, early infantile, 54 [RCV000515623]|heterogeneous nuclear ribonucleoprotein G, human [RCV001512671]|not provided [RCV000532589] Chr1:244863879 [GRCh38]
Chr1:245027181 [GRCh37]
Chr1:1q44
benign
NM_031844.3(HNRNPU):c.124C>T (p.Leu42=) single nucleotide variant Epileptic encephalopathy, early infantile, 54 [RCV000515635]|heterogeneous nuclear ribonucleoprotein G, human [RCV000526296] Chr1:244864184 [GRCh38]
Chr1:245027486 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1434C>T (p.Asn478=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000515636]|not provided [RCV000541160] Chr1:244858071 [GRCh38]
Chr1:245021373 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.481C>T (p.Gln161Ter) single nucleotide variant Epileptic encephalopathy, early infantile, 54 [RCV000515619]|heterogeneous nuclear ribonucleoprotein G, human [RCV000543763] Chr1:244863827 [GRCh38]
Chr1:245027129 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.507G>A (p.Gln169=) single nucleotide variant History of neurodevelopmental disorder [RCV000718446]|heterogeneous nuclear ribonucleoprotein G, human [RCV000515627]|not provided [RCV000558591] Chr1:244863801 [GRCh38]
Chr1:245027103 [GRCh37]
Chr1:1q44
benign|likely benign
NM_031844.3(HNRNPU):c.1710T>C (p.Ala570=) single nucleotide variant Epileptic encephalopathy, early infantile, 54 [RCV000515630]|heterogeneous nuclear ribonucleoprotein G, human [RCV000530792] Chr1:244856761 [GRCh38]
Chr1:245020063 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.2166A>C (p.Gly722=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000639402] Chr1:244855905 [GRCh38]
Chr1:245019207 [GRCh37]
Chr1:1q44
likely benign|uncertain significance
NM_031844.3(HNRNPU):c.1439C>T (p.Pro480Leu) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000639392]|not provided [RCV001550923] Chr1:244858066 [GRCh38]
Chr1:245021368 [GRCh37]
Chr1:1q44
likely benign|uncertain significance
NM_031844.3(HNRNPU):c.484del (p.Gln162fs) deletion heterogeneous nuclear ribonucleoprotein G, human [RCV000639401] Chr1:244863824 [GRCh38]
Chr1:245027126 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.2118T>C (p.His706=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000639406] Chr1:244855953 [GRCh38]
Chr1:245019255 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1117+9T>G single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000639409] Chr1:244859266 [GRCh38]
Chr1:245022568 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.567C>T (p.Gly189=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000515621]|not provided [RCV000536769] Chr1:244863741 [GRCh38]
Chr1:245027043 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.380C>T (p.Ala127Val) single nucleotide variant Epileptic encephalopathy, early infantile, 54 [RCV000515626]|heterogeneous nuclear ribonucleoprotein G, human [RCV000554134] Chr1:244863928 [GRCh38]
Chr1:245027230 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.2248G>A (p.Gly750Ser) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000515628]|not provided [RCV000540809] Chr1:244855528 [GRCh38]
Chr1:245018830 [GRCh37]
Chr1:1q44
likely benign|uncertain significance
NM_031844.3(HNRNPU):c.2408A>G (p.Asn803Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 54 [RCV000515632]|heterogeneous nuclear ribonucleoprotein G, human [RCV000555674] Chr1:244854989 [GRCh38]
Chr1:245018291 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1156A>G (p.Ile386Val) single nucleotide variant Epileptic encephalopathy, early infantile, 54 [RCV000515634]|heterogeneous nuclear ribonucleoprotein G, human [RCV000548167] Chr1:244858803 [GRCh38]
Chr1:245022105 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.621G>A (p.Gln207=) single nucleotide variant History of neurodevelopmental disorder [RCV000720107]|heterogeneous nuclear ribonucleoprotein G, human [RCV000515620]|not provided [RCV000547113] Chr1:244863687 [GRCh38]
Chr1:245026989 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.336C>T (p.Ala112=) single nucleotide variant Epileptic encephalopathy, early infantile, 54 [RCV000515637]|heterogeneous nuclear ribonucleoprotein G, human [RCV000529287] Chr1:244863972 [GRCh38]
Chr1:245027274 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.614A>G (p.Gln205Arg) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000639395] Chr1:244863694 [GRCh38]
Chr1:245026996 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1017+8C>T single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000639398] Chr1:244860327 [GRCh38]
Chr1:245023629 [GRCh37]
Chr1:1q44
benign|uncertain significance
NM_031844.3(HNRNPU):c.1186T>C (p.Tyr396His) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000639399] Chr1:244858773 [GRCh38]
Chr1:245022075 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1117+6G>T single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000639403] Chr1:244859269 [GRCh38]
Chr1:245022571 [GRCh37]
Chr1:1q44
uncertain significance
NM_001848.3(COL6A1):c.615G>A (p.Thr205=) microsatellite Epileptic encephalopathy, early infantile, 54 [RCV000768231]|History of neurodevelopmental disorder [RCV000716706]|heterogeneous nuclear ribonucleoprotein G, human [RCV000639404]|not provided [RCV001692243] Chr1:244855903..244855905 [GRCh38]
Chr1:245019205..245019207 [GRCh37]
Chr1:1q44
benign|likely benign|uncertain significance
NM_031844.3(HNRNPU):c.1743G>C (p.Gln581His) single nucleotide variant not provided [RCV000656291] Chr1:244856728 [GRCh38]
Chr1:245020030 [GRCh37]
Chr1:1q44
likely pathogenic
NM_031844.3(HNRNPU):c.521A>G (p.Gln174Arg) single nucleotide variant Seizures [RCV000626974] Chr1:244863787 [GRCh38]
Chr1:245027089 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.191_206del (p.Gly64fs) deletion heterogeneous nuclear ribonucleoprotein G, human [RCV001390343]|not provided [RCV000627592] Chr1:244864102..244864117 [GRCh38]
Chr1:245027404..245027419 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.125T>C (p.Leu42Pro) single nucleotide variant not provided [RCV000658556] Chr1:244864183 [GRCh38]
Chr1:245027485 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.2425-2A>G single nucleotide variant Epileptic encephalopathy, early infantile, 54 [RCV000677643] Chr1:244854505 [GRCh38]
Chr1:245017807 [GRCh37]
Chr1:1q44
pathogenic
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3 copy number gain not provided [RCV000684707] Chr1:228529973..249181598 [GRCh37]
Chr1:1q42.13-44
pathogenic
GRCh37/hg19 1q43-44(chr1:241051170-249224684)x1 copy number loss not provided [RCV000684716] Chr1:241051170..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q43-44(chr1:243099588-245703296)x1 copy number loss not provided [RCV000684719] Chr1:243099588..245703296 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q44(chr1:244785943-245030221)x3 copy number gain not provided [RCV000684724] Chr1:244785943..245030221 [GRCh37]
Chr1:1q44
uncertain significance
GRCh37/hg19 1q44(chr1:244797639-249224684)x1 copy number loss not provided [RCV000684725] Chr1:244797639..249224684 [GRCh37]
Chr1:1q44
pathogenic
GRCh37/hg19 1q44(chr1:244938497-245848206)x3 copy number gain not provided [RCV000684726] Chr1:244938497..245848206 [GRCh37]
Chr1:1q44
uncertain significance
GRCh37/hg19 1q44(chr1:244971506-245024284)x1 copy number loss not provided [RCV000684727] Chr1:244971506..245024284 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.365AGG[5] (p.Glu125dup) microsatellite heterogeneous nuclear ribonucleoprotein G, human [RCV000701614] Chr1:244863931..244863932 [GRCh38]
Chr1:245027233..245027234 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1259C>T (p.Ser420Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 54 [RCV001249272]|heterogeneous nuclear ribonucleoprotein G, human [RCV000701927]|not provided [RCV000992168] Chr1:244858246 [GRCh38]
Chr1:245021548 [GRCh37]
Chr1:1q44
uncertain significance|not provided
NM_031844.3(HNRNPU):c.1495-3T>C single nucleotide variant not specified [RCV001644776] Chr1:244857720 [GRCh38]
Chr1:245021022 [GRCh37]
Chr1:1q44
likely benign|uncertain significance
NM_031844.3(HNRNPU):c.1494+7G>T single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000690262] Chr1:244858004 [GRCh38]
Chr1:245021306 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1251A>G (p.Val417=) single nucleotide variant History of neurodevelopmental disorder [RCV000717503]|heterogeneous nuclear ribonucleoprotein G, human [RCV000862634]|not provided [RCV001655579] Chr1:244858254 [GRCh38]
Chr1:245021556 [GRCh37]
Chr1:1q44
benign|likely benign
46,XX,der(1)(q44,q44).seq[GRCh37/hg19]der(1)(1pter->1q44(+)(244867200)::TCGCC{5}::q44(-)(246816211),q44(-)(2460642{39-40})::CGG...CCC{49}::q44(+)(246569872)->1qter) complex Epileptic encephalopathy, early infantile, 54 [RCV000714958] Chr1:244867200..246816211 [GRCh37]
Chr1:1q44
likely pathogenic
NM_031844.3(HNRNPU):c.261G>A (p.Glu87=) single nucleotide variant Epileptic encephalopathy, early infantile, 54 [RCV001702551]|History of neurodevelopmental disorder [RCV000715249]|heterogeneous nuclear ribonucleoprotein G, human [RCV001516750]|not provided [RCV000711971] Chr1:244864047 [GRCh38]
Chr1:245027349 [GRCh37]
Chr1:1q44
benign
NM_031844.3(HNRNPU):c.1089G>C (p.Trp363Cys) single nucleotide variant History of neurodevelopmental disorder [RCV000716844] Chr1:244859303 [GRCh38]
Chr1:245022605 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1118-13_1118-10del microsatellite heterogeneous nuclear ribonucleoprotein G, human [RCV000705574] Chr1:244858851..244858854 [GRCh38]
Chr1:245022153..245022156 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.2263C>T (p.Arg755Cys) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000689243] Chr1:244855513 [GRCh38]
Chr1:245018815 [GRCh37]
Chr1:1q44
likely benign|uncertain significance
NM_031844.3(HNRNPU):c.264AGAGGA[1] (p.Glu93_Glu94del) microsatellite heterogeneous nuclear ribonucleoprotein G, human [RCV000706197]|not provided [RCV001537560] Chr1:244864033..244864038 [GRCh38]
Chr1:245027335..245027340 [GRCh37]
Chr1:1q44
likely benign|uncertain significance
NM_031844.3(HNRNPU):c.651AGGCGGCGG[1] (p.Gly221_Gly223del) microsatellite heterogeneous nuclear ribonucleoprotein G, human [RCV000706629]|not provided [RCV001558451] Chr1:244863640..244863648 [GRCh38]
Chr1:245026942..245026950 [GRCh37]
Chr1:1q44
likely benign|uncertain significance
NM_031844.3(HNRNPU):c.1495-10_1495-6del microsatellite heterogeneous nuclear ribonucleoprotein G, human [RCV000698537] Chr1:244857723..244857727 [GRCh38]
Chr1:245021025..245021029 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.866G>T (p.Cys289Phe) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000706605] Chr1:244862472 [GRCh38]
Chr1:245025774 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.235G>A (p.Ala79Thr) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000697634] Chr1:244864073 [GRCh38]
Chr1:245027375 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.62A>G (p.Lys21Arg) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000688341] Chr1:244864246 [GRCh38]
Chr1:245027548 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.439G>A (p.Asp147Asn) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001403756]|not provided [RCV000695975] Chr1:244863869 [GRCh38]
Chr1:245027171 [GRCh37]
Chr1:1q44
likely benign|uncertain significance
NM_031844.3(HNRNPU):c.1117+1G>C single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000705160] Chr1:244859274 [GRCh38]
Chr1:245022576 [GRCh37]
Chr1:1q44
likely pathogenic
NM_031844.3(HNRNPU):c.516G>C (p.Gln172His) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000693985] Chr1:244863792 [GRCh38]
Chr1:245027094 [GRCh37]
Chr1:1q44
uncertain significance
NC_000001.11:g.(?_244854430)_(244864327_?)del deletion heterogeneous nuclear ribonucleoprotein G, human [RCV000708296] Chr1:244854430..244864327 [GRCh38]
Chr1:245017732..245027629 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.1629G>A (p.Lys543=) single nucleotide variant History of neurodevelopmental disorder [RCV000720351] Chr1:244856842 [GRCh38]
Chr1:245020144 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.439G>T (p.Asp147Tyr) single nucleotide variant History of neurodevelopmental disorder [RCV000719351] Chr1:244863869 [GRCh38]
Chr1:245027171 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.691+62del deletion not provided [RCV001565722] Chr1:244863555 [GRCh38]
Chr1:245026857 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1368A>C (p.Glu456Asp) single nucleotide variant Epileptic encephalopathy, early infantile, 54 [RCV000767987] Chr1:244858137 [GRCh38]
Chr1:245021439 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.2168-12C>G single nucleotide variant not provided [RCV001567388] Chr1:244855620 [GRCh38]
Chr1:245018922 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.692-317C>T single nucleotide variant not provided [RCV001571454] Chr1:244863047 [GRCh38]
Chr1:245026349 [GRCh37]
Chr1:1q44
likely benign
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q42.2-44(chr1:232232335-249218992)x3 copy number gain not provided [RCV000749394] Chr1:232232335..249218992 [GRCh37]
Chr1:1q42.2-44
pathogenic
NM_031844.3(HNRNPU):c.-141C>T single nucleotide variant not provided [RCV001572382] Chr1:244864448 [GRCh38]
Chr1:245027750 [GRCh37]
Chr1:1q44
likely benign
null duplication not provided [RCV001583540] Chr1:244854162..244854163 [GRCh38]
Chr1:245017464..245017465 [GRCh37]
Chr1:1q44
likely benign
null single nucleotide variant not provided [RCV001667681] Chr1:244855322 [GRCh38]
Chr1:245018624 [GRCh37]
Chr1:1q44
benign
null single nucleotide variant not provided [RCV001668855] Chr1:244858871 [GRCh38]
Chr1:245022173 [GRCh37]
Chr1:1q44
benign
NM_031844.3(HNRNPU):c.2353-114_2353-111del microsatellite not provided [RCV001534826] Chr1:244855155..244855158 [GRCh38]
Chr1:245018457..245018460 [GRCh37]
Chr1:1q44
benign
null single nucleotide variant not provided [RCV001709312] Chr1:244863418 [GRCh38]
Chr1:245026720 [GRCh37]
Chr1:1q44
benign
NM_031844.3(HNRNPU):c.17_33del (p.Val6fs) deletion not provided [RCV000761713] Chr1:244864275..244864291 [GRCh38]
Chr1:245027577..245027593 [GRCh37]
Chr1:1q44
likely pathogenic
NM_031844.3(HNRNPU):c.1173_1174del (p.Cys391_Glu392delinsTer) microsatellite Epileptic encephalopathy, early infantile, 54 [RCV000760265] Chr1:244858785..244858786 [GRCh38]
Chr1:245022087..245022088 [GRCh37]
Chr1:1q44
pathogenic
NM_001943.5(DSG2):c.1299T>C (p.Asp433=) single nucleotide variant not provided [RCV001707980] Chr1:244855410 [GRCh38]
Chr1:245018712 [GRCh37]
Chr1:1q44
benign
NM_031844.3(HNRNPU):c.1230+47T>C single nucleotide variant not provided [RCV001566898] Chr1:244858682 [GRCh38]
Chr1:245021984 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1996T>C (p.Leu666=) single nucleotide variant not provided [RCV000994328] Chr1:244856075 [GRCh38]
Chr1:245019377 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.542A>G (p.Lys181Arg) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001060694] Chr1:244863766 [GRCh38]
Chr1:245027068 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.178C>T (p.Leu60=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000981558] Chr1:244864130 [GRCh38]
Chr1:245027432 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1566A>G (p.Pro522=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001409003]|not provided [RCV000868481] Chr1:244857646 [GRCh38]
Chr1:245020948 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.46C>T (p.Leu16=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001462209]|not provided [RCV000926815] Chr1:244864262 [GRCh38]
Chr1:245027564 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1575T>C (p.Tyr525=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000867011] Chr1:244857637 [GRCh38]
Chr1:245020939 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1118-6T>C single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001466159]|not provided [RCV000868711] Chr1:244858847 [GRCh38]
Chr1:245022149 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.492A>G (p.Gln164=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000870708] Chr1:244863816 [GRCh38]
Chr1:245027118 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1488T>C (p.Asp496=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001407775]|not provided [RCV000966714] Chr1:244858017 [GRCh38]
Chr1:245021319 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1231-5A>G single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001457697]|not provided [RCV000867961] Chr1:244858279 [GRCh38]
Chr1:245021581 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.282A>G (p.Glu94=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001434875]|not provided [RCV000867126] Chr1:244864026 [GRCh38]
Chr1:245027328 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1875G>C (p.Gly625=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001425106]|not provided [RCV000868040] Chr1:244856494 [GRCh38]
Chr1:245019796 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.222C>G (p.Leu74=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000868099] Chr1:244864086 [GRCh38]
Chr1:245027388 [GRCh37]
Chr1:1q44
likely benign
NM_001278064.2(GRM1):c.2922T>C (p.Pro974=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000863730]|not provided [RCV001644846] Chr1:244860483 [GRCh38]
Chr1:245023785 [GRCh37]
Chr1:1q44
benign
NM_031844.3(HNRNPU):c.2013A>G (p.Glu671=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001462253]|not provided [RCV000928381] Chr1:244856058 [GRCh38]
Chr1:245019360 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.507G>C (p.Gln169His) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001037276] Chr1:244863801 [GRCh38]
Chr1:245027103 [GRCh37]
Chr1:1q44
likely benign|uncertain significance
NM_031844.3(HNRNPU):c.533G>C (p.Gly178Ala) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001034049] Chr1:244863775 [GRCh38]
Chr1:245027077 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.2350C>G (p.Gln784Glu) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001034234] Chr1:244855426 [GRCh38]
Chr1:245018728 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.817C>A (p.Gln273Lys) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001045713] Chr1:244862521 [GRCh38]
Chr1:245025823 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1214T>C (p.Val405Ala) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001041812] Chr1:244858745 [GRCh38]
Chr1:245022047 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.2009A>G (p.Lys670Arg) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001035973] Chr1:244856062 [GRCh38]
Chr1:245019364 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1500GAT[2] (p.Met502del) microsatellite heterogeneous nuclear ribonucleoprotein G, human [RCV001042988] Chr1:244857704..244857706 [GRCh38]
Chr1:245021006..245021008 [GRCh37]
Chr1:1q44
likely pathogenic
NM_031844.3(HNRNPU):c.206G>C (p.Arg69Pro) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001513331]|not provided [RCV000902805] Chr1:244864102 [GRCh38]
Chr1:245027404 [GRCh37]
Chr1:1q44
benign
NM_031844.3(HNRNPU):c.1770G>A (p.Arg590=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000872259] Chr1:244856599 [GRCh38]
Chr1:245019901 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1743+4C>T single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001520113]|not provided [RCV000944722] Chr1:244856724 [GRCh38]
Chr1:245020026 [GRCh37]
Chr1:1q44
benign
NM_031844.3(HNRNPU):c.2168-11dup duplication heterogeneous nuclear ribonucleoprotein G, human [RCV001393617]|not provided [RCV000936910] Chr1:244855617..244855618 [GRCh38]
Chr1:245018919..245018920 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1230+8A>C single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000864004] Chr1:244858721 [GRCh38]
Chr1:245022023 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.458G>A (p.Gly153Asp) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000870772] Chr1:244863850 [GRCh38]
Chr1:245027152 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.359C>G (p.Pro120Arg) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001520591]|not provided [RCV000944203] Chr1:244863949 [GRCh38]
Chr1:245027251 [GRCh37]
Chr1:1q44
benign
NM_031844.3(HNRNPU):c.1615-10T>C single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000865705] Chr1:244856866 [GRCh38]
Chr1:245020168 [GRCh37]
Chr1:1q44
benign
NM_031844.3(HNRNPU):c.132C>T (p.Asp44=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001421655]|not provided [RCV000942019] Chr1:244864176 [GRCh38]
Chr1:245027478 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1018-8A>T single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001498423]|not provided [RCV000924901] Chr1:244859382 [GRCh38]
Chr1:245022684 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.2226C>T (p.Gly742=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000949159] Chr1:244855550 [GRCh38]
Chr1:245018852 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1216A>G (p.Ile406Val) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000979987] Chr1:244858743 [GRCh38]
Chr1:245022045 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.936A>G (p.Thr312=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001397455]|not provided [RCV000869212] Chr1:244860416 [GRCh38]
Chr1:245023718 [GRCh37]
Chr1:1q44
likely benign
GRCh37/hg19 1q43-44(chr1:242150334-246518362) copy number loss not provided [RCV000767623] Chr1:242150334..246518362 [GRCh37]
Chr1:1q43-44
pathogenic
NM_031844.3(HNRNPU):c.1017+10A>G single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000964690] Chr1:244860325 [GRCh38]
Chr1:245023627 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.149G>T (p.Arg50Leu) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000799202] Chr1:244864159 [GRCh38]
Chr1:245027461 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.692-3T>C single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000820004] Chr1:244862733 [GRCh38]
Chr1:245026035 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1391A>G (p.Lys464Arg) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000793556] Chr1:244858114 [GRCh38]
Chr1:245021416 [GRCh37]
Chr1:1q44
benign|uncertain significance
NM_031844.3(HNRNPU):c.2285G>A (p.Arg762His) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000810343] Chr1:244855491 [GRCh38]
Chr1:245018793 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1086C>T (p.Gly362=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000824552] Chr1:244859306 [GRCh38]
Chr1:245022608 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.172G>A (p.Gly58Ser) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000820065] Chr1:244864136 [GRCh38]
Chr1:245027438 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.622C>G (p.Gln208Glu) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000808144] Chr1:244863686 [GRCh38]
Chr1:245026988 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1592A>G (p.Asn531Ser) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000793498] Chr1:244857620 [GRCh38]
Chr1:245020922 [GRCh37]
Chr1:1q44
uncertain significance
GRCh37/hg19 1q43-44(chr1:238669293-249224684)x3 copy number gain not provided [RCV000849904] Chr1:238669293..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
NM_031844.3(HNRNPU):c.273GGA[5] (p.Glu93_Glu94dup) microsatellite heterogeneous nuclear ribonucleoprotein G, human [RCV000816155] Chr1:244864026..244864027 [GRCh38]
Chr1:245027328..245027329 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.643_644delinsGC (p.Lys215Ala) indel heterogeneous nuclear ribonucleoprotein G, human [RCV000803582] Chr1:244863664..244863665 [GRCh38]
Chr1:245026966..245026967 [GRCh37]
Chr1:1q44
uncertain significance
null single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000793425]|not provided [RCV001585711] Chr1:244863628 [GRCh38]
Chr1:245026930 [GRCh37]
Chr1:1q44
likely benign|uncertain significance
GRCh37/hg19 1q42.3-44(chr1:235582580-249224684)x3 copy number gain not provided [RCV000846184] Chr1:235582580..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
NM_031844.3(HNRNPU):c.418G>A (p.Glu140Lys) single nucleotide variant not provided [RCV001091232] Chr1:244863890 [GRCh38]
Chr1:245027192 [GRCh37]
Chr1:1q44
likely pathogenic|likely benign
NM_031844.3(HNRNPU):c.554G>T (p.Gly185Val) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000812558] Chr1:244863754 [GRCh38]
Chr1:245027056 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.165del (p.Asn57fs) deletion not provided [RCV001091233] Chr1:244864143 [GRCh38]
Chr1:245027445 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.441C>G (p.Asp147Glu) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000798646] Chr1:244863867 [GRCh38]
Chr1:245027169 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.2341A>G (p.Asn781Asp) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000815222] Chr1:244855435 [GRCh38]
Chr1:245018737 [GRCh37]
Chr1:1q44
uncertain significance
NC_000001.11:g.(?_244860315)_(244862750_?)del deletion heterogeneous nuclear ribonucleoprotein G, human [RCV000804611] Chr1:244860315..244862750 [GRCh38]
Chr1:245023617..245026052 [GRCh37]
Chr1:1q44
pathogenic
NC_000001.10:g.(?_245017732)_(245020178_?)dup duplication heterogeneous nuclear ribonucleoprotein G, human [RCV000805912] Chr1:244854430..244856876 [GRCh38]
Chr1:245017732..245020178 [GRCh37]
Chr1:1q44
pathogenic|uncertain significance
NM_031844.3(HNRNPU):c.420A>C (p.Glu140Asp) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000823546] Chr1:244863888 [GRCh38]
Chr1:245027190 [GRCh37]
Chr1:1q44
uncertain significance
GRCh37/hg19 1q44(chr1:244379481-249224684)x1 copy number loss not provided [RCV000845861] Chr1:244379481..249224684 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.264AGAGGA[3] (p.Glu93_Glu94dup) microsatellite not provided [RCV000936277] Chr1:244864032..244864033 [GRCh38]
Chr1:245027334..245027335 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.318A>G (p.Leu106=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001502223]|not provided [RCV000870019] Chr1:244863990 [GRCh38]
Chr1:245027292 [GRCh37]
Chr1:1q44
likely benign
GRCh37/hg19 1q44(chr1:244991997-245117237)x1 copy number loss not provided [RCV000848019] Chr1:244991997..245117237 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.1681dup (p.Gln561fs) duplication Epileptic encephalopathy, early infantile, 54 [RCV000986582]|heterogeneous nuclear ribonucleoprotein G, human [RCV001390023] Chr1:244856789..244856790 [GRCh38]
Chr1:245020091..245020092 [GRCh37]
Chr1:1q44
pathogenic
GRCh37/hg19 1q44(chr1:244546830-246826108)x3 copy number gain not provided [RCV001005208] Chr1:244546830..246826108 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.75_78del (p.Ser26fs) deletion not provided [RCV001008985] Chr1:244864230..244864233 [GRCh38]
Chr1:245027532..245027535 [GRCh37]
Chr1:1q44
likely pathogenic
NM_031844.3(HNRNPU):c.470G>A (p.Gly157Glu) single nucleotide variant Epileptic encephalopathy, early infantile, 54 [RCV001198003] Chr1:244863838 [GRCh38]
Chr1:245027140 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1738G>A (p.Asp580Asn) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001212687] Chr1:244856733 [GRCh38]
Chr1:245020035 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.611G>C (p.Arg204Thr) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001230050] Chr1:244863697 [GRCh38]
Chr1:245026999 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.2168C>T (p.Ala723Val) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001213931] Chr1:244855608 [GRCh38]
Chr1:245018910 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1282C>G (p.Leu428Val) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001214216] Chr1:244858223 [GRCh38]
Chr1:245021525 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.839A>G (p.Asp280Gly) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001224642] Chr1:244862499 [GRCh38]
Chr1:245025801 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.347C>T (p.Ala116Val) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001242727] Chr1:244863961 [GRCh38]
Chr1:245027263 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1244A>G (p.Asp415Gly) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001221225] Chr1:244858261 [GRCh38]
Chr1:245021563 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.223G>C (p.Glu75Gln) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001210954] Chr1:244864085 [GRCh38]
Chr1:245027387 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.455C>T (p.Ala152Val) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001223204] Chr1:244863853 [GRCh38]
Chr1:245027155 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.182A>G (p.Asp61Gly) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001242682] Chr1:244864126 [GRCh38]
Chr1:245027428 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.2464C>T (p.Gln822Ter) single nucleotide variant Myoclonic absences [RCV001248820] Chr1:244854464 [GRCh38]
Chr1:245017766 [GRCh37]
Chr1:1q44
benign
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
NM_031844.3(HNRNPU):c.415C>T (p.Gln139Ter) single nucleotide variant Epileptic encephalopathy, early infantile, 54 [RCV000986583] Chr1:244863893 [GRCh38]
Chr1:245027195 [GRCh37]
Chr1:1q44
likely pathogenic
NC_000001.11:g.244856852_244856858del deletion not provided [RCV000994329] Chr1:244856848..244856854 [GRCh38]
Chr1:245020150..245020156 [GRCh37]
Chr1:1q44
likely pathogenic
NM_031844.3(HNRNPU):c.1743G>A (p.Gln581=) single nucleotide variant not provided [RCV001091231] Chr1:244856728 [GRCh38]
Chr1:245020030 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.465G>T (p.Glu155Asp) single nucleotide variant Epileptic encephalopathy, early infantile, 54 [RCV001199195] Chr1:244863843 [GRCh38]
Chr1:245027145 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.754G>T (p.Asp252Tyr) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001245696] Chr1:244862668 [GRCh38]
Chr1:245025970 [GRCh37]
Chr1:1q44
uncertain significance
NM_016343.4(CENPF):c.3244C>T (p.His1082Tyr) single nucleotide variant not provided [RCV001641787] Chr1:244864715 [GRCh38]
Chr1:245028017 [GRCh37]
Chr1:1q44
benign
NM_031844.3(HNRNPU):c.878-94G>C single nucleotide variant not provided [RCV001570854] Chr1:244860568 [GRCh38]
Chr1:245023870 [GRCh37]
Chr1:1q44
likely benign
null single nucleotide variant not provided [RCV001671512] Chr1:244860063 [GRCh38]
Chr1:245023365 [GRCh37]
Chr1:1q44
benign
null deletion not provided [RCV001588644] Chr1:244854163 [GRCh38]
Chr1:245017465 [GRCh37]
Chr1:1q44
likely benign
NM_004360.5(CDH1):c.49-8C>T insertion not provided [RCV001714849] Chr1:244863420..244863421 [GRCh38]
Chr1:245026722..245026723 [GRCh37]
Chr1:1q44
benign
NM_031844.3(HNRNPU):c.1801C>T (p.Arg601Ter) single nucleotide variant not provided [RCV001543485] Chr1:244856568 [GRCh38]
Chr1:245019870 [GRCh37]
Chr1:1q44
likely pathogenic
NM_031844.3(HNRNPU):c.1017+50T>A single nucleotide variant not provided [RCV001534361] Chr1:244860285 [GRCh38]
Chr1:245023587 [GRCh37]
Chr1:1q44
likely benign
null microsatellite not provided [RCV001596475] Chr1:244863395..244863396 [GRCh38]
Chr1:245026697..245026698 [GRCh37]
Chr1:1q44
likely benign
null deletion not provided [RCV001593447] Chr1:244858604 [GRCh38]
Chr1:245021906 [GRCh37]
Chr1:1q44
likely benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001682287] Chr1:244862414 [GRCh38]
Chr1:245025716 [GRCh37]
Chr1:1q44
benign
null deletion not provided [RCV001667088] Chr1:244857990 [GRCh38]
Chr1:245021292 [GRCh37]
Chr1:1q44
benign
NM_031844.3(HNRNPU):c.1017+137TC[2] microsatellite not provided [RCV001556862] Chr1:244860193..244860194 [GRCh38]
Chr1:245023495..245023496 [GRCh37]
Chr1:1q44
likely benign
NM_004360.5(CDH1):c.49-8C>T microsatellite not provided [RCV001717598] Chr1:244863396..244863397 [GRCh38]
Chr1:245026698..245026699 [GRCh37]
Chr1:1q44
benign
NM_004360.5(CDH1):c.49-8C>T single nucleotide variant not provided [RCV001717600] Chr1:244856983 [GRCh38]
Chr1:245020285 [GRCh37]
Chr1:1q44
benign
null single nucleotide variant not provided [RCV001710429] Chr1:244854957 [GRCh38]
Chr1:245018259 [GRCh37]
Chr1:1q44
benign
NM_031844.3(HNRNPU):c.2269C>T (p.Pro757Ser) single nucleotide variant not provided [RCV001575572] Chr1:244855507 [GRCh38]
Chr1:245018809 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.551C>G (p.Ala184Gly) single nucleotide variant not provided [RCV001532110] Chr1:244863757 [GRCh38]
Chr1:245027059 [GRCh37]
Chr1:1q44
uncertain significance
null single nucleotide variant not provided [RCV001620689] Chr1:244858474 [GRCh38]
Chr1:245021776 [GRCh37]
Chr1:1q44
benign
NM_000085.5(CLCNKB):c.101-50G>C microsatellite not provided [RCV001686158] Chr1:244863395..244863396 [GRCh38]
Chr1:245026697..245026698 [GRCh37]
Chr1:1q44
benign
null single nucleotide variant not provided [RCV001587925] Chr1:244860543 [GRCh38]
Chr1:245023845 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.375G>C (p.Glu125Asp) single nucleotide variant not provided [RCV001559672] Chr1:244863933 [GRCh38]
Chr1:245027235 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.2184C>T (p.Gly728=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000866743] Chr1:244855592 [GRCh38]
Chr1:245018894 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1182A>G (p.Glu394=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000867027] Chr1:244858777 [GRCh38]
Chr1:245022079 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1183G>C (p.Asp395His) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000928239] Chr1:244858776 [GRCh38]
Chr1:245022078 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.908G>T (p.Arg303Ile) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001500647]|not provided [RCV000932719] Chr1:244860444 [GRCh38]
Chr1:245023746 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1274G>C (p.Gly425Ala) single nucleotide variant Epileptic encephalopathy, early infantile, 54 [RCV001333298]|heterogeneous nuclear ribonucleoprotein G, human [RCV000863376] Chr1:244858231 [GRCh38]
Chr1:245021533 [GRCh37]
Chr1:1q44
likely benign|uncertain significance
NM_031844.3(HNRNPU):c.1200TGA[1] (p.Asp401del) microsatellite not provided [RCV000897568] Chr1:244858754..244858756 [GRCh38]
Chr1:245022056..245022058 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1794C>T (p.Gly598=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000862870] Chr1:244856575 [GRCh38]
Chr1:245019877 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1260G>A (p.Ser420=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001438208]|not provided [RCV000978925] Chr1:244858245 [GRCh38]
Chr1:245021547 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.374A>C (p.Glu125Ala) single nucleotide variant not provided [RCV000954016] Chr1:244863934 [GRCh38]
Chr1:245027236 [GRCh37]
Chr1:1q44
benign|likely benign
NM_031844.3(HNRNPU):c.2083A>G (p.Ser695Gly) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001446925]|not provided [RCV000867821] Chr1:244855988 [GRCh38]
Chr1:245019290 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1413A>G (p.Glu471=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001491013]|not provided [RCV000940460] Chr1:244858092 [GRCh38]
Chr1:245021394 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.423G>T (p.Gly141=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001242225] Chr1:244863885 [GRCh38]
Chr1:245027187 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.361A>G (p.Met121Val) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001226877] Chr1:244863947 [GRCh38]
Chr1:245027249 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.804-3C>T single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001217170] Chr1:244862537 [GRCh38]
Chr1:245025839 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1106G>C (p.Gly369Ala) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001224722] Chr1:244859286 [GRCh38]
Chr1:245022588 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1208A>C (p.Asn403Thr) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000913598]|not provided [RCV001692322] Chr1:244858751 [GRCh38]
Chr1:245022053 [GRCh37]
Chr1:1q44
benign|likely benign
NM_031844.3(HNRNPU):c.1926C>T (p.Leu642=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV000911249] Chr1:244856145 [GRCh38]
Chr1:245019447 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.495G>A (p.Pro165=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001452938]|not provided [RCV000934047] Chr1:244863813 [GRCh38]
Chr1:245027115 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.279G>A (p.Glu93=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001452940]|not provided [RCV000934053] Chr1:244864029 [GRCh38]
Chr1:245027331 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.691+126G>T single nucleotide variant not provided [RCV001570105] Chr1:244863491 [GRCh38]
Chr1:245026793 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.2045A>G (p.Lys682Arg) single nucleotide variant HNRNPU-related developmental and epileptic encephalopathy [RCV001563612] Chr1:244856026 [GRCh38]
Chr1:245019328 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1017+117A>G single nucleotide variant not provided [RCV001566260] Chr1:244860218 [GRCh38]
Chr1:245023520 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.2119A>G (p.Arg707Gly) single nucleotide variant not provided [RCV001556188] Chr1:244855952 [GRCh38]
Chr1:245019254 [GRCh37]
Chr1:1q44
uncertain significance
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001596762] Chr1:244857065 [GRCh38]
Chr1:245020367 [GRCh37]
Chr1:1q44
benign
NM_031844.3(HNRNPU):c.1912+35T>A single nucleotide variant not provided [RCV001550747] Chr1:244856422 [GRCh38]
Chr1:245019724 [GRCh37]
Chr1:1q44
likely benign
GRCh37/hg19 1q43-44(chr1:242483182-245087048)x1 copy number loss not provided [RCV001005203] Chr1:242483182..245087048 [GRCh37]
Chr1:1q43-44
pathogenic
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001596622] Chr1:244857261 [GRCh38]
Chr1:245020563 [GRCh37]
Chr1:1q44
likely benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001659439] Chr1:244862391 [GRCh38]
Chr1:245025693 [GRCh37]
Chr1:1q44
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) microsatellite not provided [RCV001597935] Chr1:244863396..244863399 [GRCh38]
Chr1:245026698..245026701 [GRCh37]
Chr1:1q44
benign
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) microsatellite not provided [RCV001677648] Chr1:244863420..244863421 [GRCh38]
Chr1:245026722..245026723 [GRCh37]
Chr1:1q44
benign
null deletion not provided [RCV001590372] Chr1:244857141..244857144 [GRCh38]
Chr1:245020443..245020446 [GRCh37]
Chr1:1q44
likely benign
null single nucleotide variant not provided [RCV001590419] Chr1:244855609 [GRCh38]
Chr1:245018911 [GRCh37]
Chr1:1q44
pathogenic
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001688699] Chr1:244859122 [GRCh38]
Chr1:245022424 [GRCh37]
Chr1:1q44
benign
NM_004360.5(CDH1):c.49-8C>T single nucleotide variant not provided [RCV001718335] Chr1:244863420 [GRCh38]
Chr1:245026722 [GRCh37]
Chr1:1q44
benign
NM_004360.5(CDH1):c.49-8C>T single nucleotide variant not provided [RCV001718321] Chr1:244857830 [GRCh38]
Chr1:245021132 [GRCh37]
Chr1:1q44
benign
null microsatellite not provided [RCV001591532] Chr1:244858831..244858833 [GRCh38]
Chr1:245022133..245022135 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.2266G>C (p.Ala756Pro) single nucleotide variant not provided [RCV001091229] Chr1:244855510 [GRCh38]
Chr1:245018812 [GRCh37]
Chr1:1q44
uncertain significance
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44
pathogenic
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001649631] Chr1:244862608 [GRCh38]
Chr1:245025910 [GRCh37]
Chr1:1q44
benign
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44
pathogenic
null single nucleotide variant not provided [RCV001694870] Chr1:244855865 [GRCh38]
Chr1:245019167 [GRCh37]
Chr1:1q44
benign
NM_031844.3(HNRNPU):c.133G>C (p.Glu45Gln) single nucleotide variant Epileptic encephalopathy, early infantile, 54 [RCV001169993] Chr1:244864175 [GRCh38]
Chr1:245027477 [GRCh37]
Chr1:1q44
uncertain significance
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001681867] Chr1:244860009 [GRCh38]
Chr1:245023311 [GRCh37]
Chr1:1q44
benign
null single nucleotide variant not provided [RCV001583186] Chr1:244857849 [GRCh38]
Chr1:245021151 [GRCh37]
Chr1:1q44
likely benign
NM_004360.5(CDH1):c.49-8C>T single nucleotide variant not provided [RCV001713478] Chr1:244859251 [GRCh38]
Chr1:245022553 [GRCh37]
Chr1:1q44
benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001651559] Chr1:244862390 [GRCh38]
Chr1:245025692 [GRCh37]
Chr1:1q44
benign
null duplication not provided [RCV001695831] Chr1:244854162..244854163 [GRCh38]
Chr1:245017464..245017465 [GRCh37]
Chr1:1q44
benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001651942] Chr1:244864348 [GRCh38]
Chr1:245027650 [GRCh37]
Chr1:1q44
benign
NM_031844.3(HNRNPU):c.651_660dup (p.Gly221fs) duplication not provided [RCV001528287] Chr1:244863647..244863648 [GRCh38]
Chr1:245026949..245026950 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.622C>T (p.Gln208Ter) single nucleotide variant Epileptic encephalopathy, early infantile, 54 [RCV001261515]|heterogeneous nuclear ribonucleoprotein G, human [RCV001217213] Chr1:244863686 [GRCh38]
Chr1:245026988 [GRCh37]
Chr1:1q44
pathogenic|uncertain significance
NM_031844.3(HNRNPU):c.1491_1492dup (p.Glu498fs) microsatellite heterogeneous nuclear ribonucleoprotein G, human [RCV001235706] Chr1:244858012..244858013 [GRCh38]
Chr1:245021314..245021315 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.608C>A (p.Ala203Glu) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001040309] Chr1:244863700 [GRCh38]
Chr1:245027002 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1852C>T (p.Gln618Ter) single nucleotide variant not provided [RCV001091230] Chr1:244856517 [GRCh38]
Chr1:245019819 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.596C>T (p.Ala199Val) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001070330] Chr1:244863712 [GRCh38]
Chr1:245027014 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1292C>G (p.Ala431Gly) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001050542] Chr1:244858213 [GRCh38]
Chr1:245021515 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.374_375delinsCC (p.Glu125Ala) indel heterogeneous nuclear ribonucleoprotein G, human [RCV001034468] Chr1:244863933..244863934 [GRCh38]
Chr1:245027235..245027236 [GRCh37]
Chr1:1q44
benign
NM_031844.3(HNRNPU):c.255GGA[2] (p.Glu94del) microsatellite heterogeneous nuclear ribonucleoprotein G, human [RCV001213137] Chr1:244864045..244864047 [GRCh38]
Chr1:245027347..245027349 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1954A>G (p.Ile652Val) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001228834] Chr1:244856117 [GRCh38]
Chr1:245019419 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1664del (p.Leu555fs) deletion Epileptic encephalopathy, early infantile, 54 [RCV001254678] Chr1:244856807 [GRCh38]
Chr1:245020109 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.575C>A (p.Ser192Ter) single nucleotide variant Epileptic encephalopathy, early infantile, 54 [RCV001254081] Chr1:244863733 [GRCh38]
Chr1:245027035 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.1085del (p.Gly362fs) deletion Inborn genetic diseases [RCV001266228] Chr1:244859307 [GRCh38]
Chr1:245022609 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.1502T>G (p.Met501Arg) single nucleotide variant Inborn genetic diseases [RCV001267167] Chr1:244857710 [GRCh38]
Chr1:245021012 [GRCh37]
Chr1:1q44
uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
NM_031844.3(HNRNPU):c.1189G>A (p.Gly397Arg) single nucleotide variant Seizures [RCV001254983] Chr1:244858770 [GRCh38]
Chr1:245022072 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.2425-2A>T single nucleotide variant Epileptic encephalopathy, early infantile, 54 [RCV001293774] Chr1:244854505 [GRCh38]
Chr1:245017807 [GRCh37]
Chr1:1q44
likely pathogenic
NM_031844.3(HNRNPU):c.541A>G (p.Lys181Glu) single nucleotide variant Epileptic encephalopathy, early infantile, 54 [RCV001333299] Chr1:244863767 [GRCh38]
Chr1:245027069 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1086del (p.Trp363fs) deletion Inborn genetic diseases [RCV001266229] Chr1:244859306 [GRCh38]
Chr1:245022608 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.2288dup (p.Gly763_Ser764insTer) duplication Intellectual disability [RCV001260726] Chr1:244855487..244855488 [GRCh38]
Chr1:245018789..245018790 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.1913-1G>A single nucleotide variant not provided [RCV001268566] Chr1:244856159 [GRCh38]
Chr1:245019461 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.1016A>C (p.Lys339Thr) single nucleotide variant Intellectual disability [RCV001260725] Chr1:244860336 [GRCh38]
Chr1:245023638 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.469G>C (p.Gly157Arg) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001309008] Chr1:244863839 [GRCh38]
Chr1:245027141 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.2168-9_2168-5del deletion heterogeneous nuclear ribonucleoprotein G, human [RCV001342016] Chr1:244855613..244855617 [GRCh38]
Chr1:245018915..245018919 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1035A>G (p.Pro345=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001305822] Chr1:244859357 [GRCh38]
Chr1:245022659 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.2232_2240del (p.Ser746_Gly748del) deletion heterogeneous nuclear ribonucleoprotein G, human [RCV001301521] Chr1:244855536..244855544 [GRCh38]
Chr1:245018838..245018846 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.2227G>A (p.Gly743Ser) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001351323] Chr1:244855549 [GRCh38]
Chr1:245018851 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1543A>G (p.Thr515Ala) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001320566] Chr1:244857669 [GRCh38]
Chr1:245020971 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.2164_2165dup (p.Ala723fs) duplication heterogeneous nuclear ribonucleoprotein G, human [RCV001304440] Chr1:244855905..244855906 [GRCh38]
Chr1:245019207..245019208 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.637AAG[2] (p.Lys215del) microsatellite heterogeneous nuclear ribonucleoprotein G, human [RCV001326294] Chr1:244863663..244863665 [GRCh38]
Chr1:245026965..245026967 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.621G>C (p.Gln207His) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001350566] Chr1:244863687 [GRCh38]
Chr1:245026989 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1429C>T (p.Gln477Ter) single nucleotide variant not provided [RCV001269842] Chr1:244858076 [GRCh38]
Chr1:245021378 [GRCh37]
Chr1:1q44
likely pathogenic
NM_031844.3(HNRNPU):c.659G>T (p.Gly220Val) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001371045] Chr1:244863649 [GRCh38]
Chr1:245026951 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.568C>G (p.Pro190Ala) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001397504] Chr1:244863740 [GRCh38]
Chr1:245027042 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1451G>A (p.Arg484Gln) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001362706] Chr1:244858054 [GRCh38]
Chr1:245021356 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.211G>C (p.Gly71Arg) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001296995] Chr1:244864097 [GRCh38]
Chr1:245027399 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1324C>T (p.Arg442Trp) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001343395] Chr1:244858181 [GRCh38]
Chr1:245021483 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.317T>C (p.Leu106Pro) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001306368] Chr1:244863991 [GRCh38]
Chr1:245027293 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.301G>C (p.Gly101Arg) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001300094] Chr1:244864007 [GRCh38]
Chr1:245027309 [GRCh37]
Chr1:1q44
uncertain significance
NC_000001.10:g.(?_245017752)_(245027609_?)dup duplication heterogeneous nuclear ribonucleoprotein G, human [RCV001324074] Chr1:245017752..245027609 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1424T>G (p.Phe475Cys) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001314712] Chr1:244858081 [GRCh38]
Chr1:245021383 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1169A>C (p.Asn390Thr) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001321984] Chr1:244858790 [GRCh38]
Chr1:245022092 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.683C>G (p.Pro228Arg) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001305719] Chr1:244863625 [GRCh38]
Chr1:245026927 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.302G>A (p.Gly101Asp) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001338231] Chr1:244864006 [GRCh38]
Chr1:245027308 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.601C>T (p.Pro201Ser) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001294603] Chr1:244863707 [GRCh38]
Chr1:245027009 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.457G>C (p.Gly153Arg) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001339427] Chr1:244863851 [GRCh38]
Chr1:245027153 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1826A>G (p.Lys609Arg) single nucleotide variant Epileptic encephalopathy, early infantile, 54 [RCV001329454] Chr1:244856543 [GRCh38]
Chr1:245019845 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.441C>A (p.Asp147Glu) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001366250] Chr1:244863867 [GRCh38]
Chr1:245027169 [GRCh37]
Chr1:1q44
uncertain significance
GRCh37/hg19 1q44(chr1:244811325-245725982)x1 copy number loss not provided [RCV001537902] Chr1:244811325..245725982 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.1421C>A (p.Thr474Asn) single nucleotide variant Epileptic encephalopathy, early infantile, 54 [RCV001329907] Chr1:244858084 [GRCh38]
Chr1:245021386 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.878-3C>T single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001305170] Chr1:244860477 [GRCh38]
Chr1:245023779 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.803G>A (p.Arg268Lys) single nucleotide variant not provided [RCV001281584] Chr1:244862619 [GRCh38]
Chr1:245025921 [GRCh37]
Chr1:1q44
likely pathogenic
NM_031844.3(HNRNPU):c.1282del (p.Gly429fs) deletion Epileptic encephalopathy, early infantile, 54 [RCV001374422] Chr1:244858223 [GRCh38]
Chr1:245021525 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.143_149del (p.Gly48fs) deletion Epileptic encephalopathy, early infantile, 54 [RCV001374423] Chr1:244864159..244864165 [GRCh38]
Chr1:245027461..245027467 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.394A>G (p.Asn132Asp) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001307084] Chr1:244863914 [GRCh38]
Chr1:245027216 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1825A>G (p.Lys609Glu) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001303332] Chr1:244856544 [GRCh38]
Chr1:245019846 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.1458A>G (p.Arg486=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001396319] Chr1:244858047 [GRCh38]
Chr1:245021349 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.998A>C (p.Lys333Thr) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001314331] Chr1:244860354 [GRCh38]
Chr1:245023656 [GRCh37]
Chr1:1q44
uncertain significance
GRCh37/hg19 1q43-44(chr1:240554955-247342593) copy number loss Corpus callosum, agenesis of [RCV001352645] Chr1:240554955..247342593 [GRCh37]
Chr1:1q43-44
pathogenic
NM_031844.3(HNRNPU):c.2425-7C>T single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001475002] Chr1:244854510 [GRCh38]
Chr1:245017812 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.849C>T (p.Phe283=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001492201] Chr1:244862489 [GRCh38]
Chr1:245025791 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1404A>G (p.Pro468=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001435599] Chr1:244858101 [GRCh38]
Chr1:245021403 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1260G>T (p.Ser420=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001461019] Chr1:244858245 [GRCh38]
Chr1:245021547 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.2313C>T (p.Tyr771=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001478541] Chr1:244855463 [GRCh38]
Chr1:245018765 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1913-7C>G single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001436664] Chr1:244856165 [GRCh38]
Chr1:245019467 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.2043G>A (p.Lys681=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001461955] Chr1:244856028 [GRCh38]
Chr1:245019330 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1487A>G (p.Asp496Gly) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001462915] Chr1:244858018 [GRCh38]
Chr1:245021320 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.705A>G (p.Thr235=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001475801] Chr1:244862717 [GRCh38]
Chr1:245026019 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1157dup (p.Thr388fs) duplication heterogeneous nuclear ribonucleoprotein G, human [RCV001388661] Chr1:244858801..244858802 [GRCh38]
Chr1:245022103..245022104 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.615G>A (p.Gln205=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001486048] Chr1:244863693 [GRCh38]
Chr1:245026995 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.603C>T (p.Pro201=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001506502] Chr1:244863705 [GRCh38]
Chr1:245027007 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.2403C>T (p.Gly801=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001492081] Chr1:244854994 [GRCh38]
Chr1:245018296 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1785G>A (p.Leu595=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001440658] Chr1:244856584 [GRCh38]
Chr1:245019886 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.316C>T (p.Leu106=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001406999] Chr1:244863992 [GRCh38]
Chr1:245027294 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.234C>G (p.Ala78=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001443418] Chr1:244864074 [GRCh38]
Chr1:245027376 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.803+2T>C single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001378045] Chr1:244862617 [GRCh38]
Chr1:245025919 [GRCh37]
Chr1:1q44
likely pathogenic
null single nucleotide variant not provided [RCV001582028] Chr1:244856662 [GRCh38]
Chr1:245019964 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1615-8G>C single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001441387] Chr1:244856864 [GRCh38]
Chr1:245020166 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1188T>C (p.Tyr396=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001409774] Chr1:244858771 [GRCh38]
Chr1:245022073 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1118-1G>A single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001377907] Chr1:244858842 [GRCh38]
Chr1:245022144 [GRCh37]
Chr1:1q44
likely pathogenic
NM_031844.3(HNRNPU):c.1590A>G (p.Thr530=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001444156] Chr1:244857622 [GRCh38]
Chr1:245020924 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1548A>G (p.Lys516=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001410226] Chr1:244857664 [GRCh38]
Chr1:245020966 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.2291_2294dup (p.Tyr765Ter) duplication heterogeneous nuclear ribonucleoprotein G, human [RCV001386537] Chr1:244855481..244855482 [GRCh38]
Chr1:245018783..245018784 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.561C>T (p.Ser187=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001403713] Chr1:244863747 [GRCh38]
Chr1:245027049 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.927T>C (p.Ser309=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001440173] Chr1:244860425 [GRCh38]
Chr1:245023727 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1287C>T (p.Gly429=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001405961] Chr1:244858218 [GRCh38]
Chr1:245021520 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.562_577del (p.Ser188fs) deletion heterogeneous nuclear ribonucleoprotein G, human [RCV001387637] Chr1:244863731..244863746 [GRCh38]
Chr1:245027033..245027048 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.2168-1del deletion heterogeneous nuclear ribonucleoprotein G, human [RCV001377229] Chr1:244855609 [GRCh38]
Chr1:245018911 [GRCh37]
Chr1:1q44
likely pathogenic
NM_031844.3(HNRNPU):c.81C>T (p.Asp27=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001411489] Chr1:244864227 [GRCh38]
Chr1:245027529 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.2375A>G (p.Asn792Ser) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001393911] Chr1:244855022 [GRCh38]
Chr1:245018324 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1422T>G (p.Thr474=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001427531] Chr1:244858083 [GRCh38]
Chr1:245021385 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.402C>T (p.Asp134=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001498971] Chr1:244863906 [GRCh38]
Chr1:245027208 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1119T>G (p.Gly373=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001462021] Chr1:244858840 [GRCh38]
Chr1:245022142 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1118-9T>C single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001502991] Chr1:244858850 [GRCh38]
Chr1:245022152 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1350C>T (p.Cys450=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001491273] Chr1:244858155 [GRCh38]
Chr1:245021457 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.2334C>T (p.Asn778=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001475887] Chr1:244855442 [GRCh38]
Chr1:245018744 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.2052C>T (p.Asn684=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001462043] Chr1:244856019 [GRCh38]
Chr1:245019321 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.129C>T (p.Asp43=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001479869] Chr1:244864179 [GRCh38]
Chr1:245027481 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1968A>G (p.Glu656=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001459766] Chr1:244856103 [GRCh38]
Chr1:245019405 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.390C>T (p.Asp130=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001477458] Chr1:244863918 [GRCh38]
Chr1:245027220 [GRCh37]
Chr1:1q44
likely benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant Epileptic encephalopathy, early infantile, 54 [RCV001650487] Chr1:244860438 [GRCh38]
Chr1:245023740 [GRCh37]
Chr1:1q44
uncertain significance
NM_031844.3(HNRNPU):c.813T>G (p.Ser271=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001467179] Chr1:244862525 [GRCh38]
Chr1:245025827 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1929A>C (p.Pro643=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001464100] Chr1:244856142 [GRCh38]
Chr1:245019444 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1614+7A>G single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001478339] Chr1:244857591 [GRCh38]
Chr1:245020893 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1893T>C (p.His631=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001439383] Chr1:244856476 [GRCh38]
Chr1:245019778 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1743+8G>A single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001458099] Chr1:244856720 [GRCh38]
Chr1:245020022 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.30G>A (p.Lys10=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001417223] Chr1:244864278 [GRCh38]
Chr1:245027580 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.531C>A (p.Arg177=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001431801] Chr1:244863777 [GRCh38]
Chr1:245027079 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1744-11dup duplication heterogeneous nuclear ribonucleoprotein G, human [RCV001518937] Chr1:244856629..244856630 [GRCh38]
Chr1:245019931..245019932 [GRCh37]
Chr1:1q44
benign
NM_031844.3(HNRNPU):c.2059T>C (p.Ser687Pro) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001469524] Chr1:244856012 [GRCh38]
Chr1:245019314 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1654C>T (p.Leu552=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001406868] Chr1:244856817 [GRCh38]
Chr1:245020119 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.609G>A (p.Ala203=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001428029] Chr1:244863699 [GRCh38]
Chr1:245027001 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.804-7C>T single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001430199] Chr1:244862541 [GRCh38]
Chr1:245025843 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.384G>A (p.Ser128=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001426365] Chr1:244863924 [GRCh38]
Chr1:245027226 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.2256_2260del (p.Tyr753fs) deletion heterogeneous nuclear ribonucleoprotein G, human [RCV001386190] Chr1:244855516..244855520 [GRCh38]
Chr1:245018818..245018822 [GRCh37]
Chr1:1q44
pathogenic
NM_031844.3(HNRNPU):c.1395A>G (p.Pro465=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001437221] Chr1:244858110 [GRCh38]
Chr1:245021412 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.1338G>T (p.Pro446=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001393815] Chr1:244858167 [GRCh38]
Chr1:245021469 [GRCh37]
Chr1:1q44
likely benign
NM_031844.3(HNRNPU):c.603C>G (p.Pro201=) single nucleotide variant heterogeneous nuclear ribonucleoprotein G, human [RCV001477271] Chr1:244863705 [GRCh38]
Chr1:245027007 [GRCh37]
Chr1:1q44
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5048 AgrOrtholog
COSMIC HNRNPU COSMIC
Ensembl Genes ENSG00000153187 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000283179 UniProtKB/TrEMBL
  ENSP00000393151 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000410728 UniProtKB/TrEMBL
  ENSP00000479468 UniProtKB/TrEMBL
  ENSP00000482621 UniProtKB/TrEMBL
  ENSP00000490988 UniProtKB/TrEMBL
  ENSP00000491215 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000491263 UniProtKB/TrEMBL
  ENSP00000491294 UniProtKB/TrEMBL
  ENSP00000491305 UniProtKB/TrEMBL
  ENSP00000491340 UniProtKB/TrEMBL
  ENSP00000491491 UniProtKB/TrEMBL
  ENSP00000491601 UniProtKB/TrEMBL
  ENSP00000491685 UniProtKB/TrEMBL
  ENSP00000491807 UniProtKB/TrEMBL
  ENSP00000491903 UniProtKB/TrEMBL
  ENSP00000492010 UniProtKB/TrEMBL
  ENSP00000492573 UniProtKB/TrEMBL
  ENSP00000492620 UniProtKB/TrEMBL
Ensembl Transcript ENST00000283179 UniProtKB/TrEMBL
  ENST00000440865 UniProtKB/TrEMBL
  ENST00000444376 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000475997 UniProtKB/TrEMBL
  ENST00000483966 UniProtKB/TrEMBL
  ENST00000489705 UniProtKB/TrEMBL
  ENST00000638230 UniProtKB/TrEMBL
  ENST00000638301 UniProtKB/TrEMBL
  ENST00000638475 UniProtKB/TrEMBL
  ENST00000638716 UniProtKB/TrEMBL
  ENST00000639628 UniProtKB/TrEMBL
  ENST00000639824 UniProtKB/TrEMBL
  ENST00000639880 UniProtKB/TrEMBL
  ENST00000640001 UniProtKB/TrEMBL
  ENST00000640056 UniProtKB/TrEMBL
  ENST00000640119 UniProtKB/TrEMBL
  ENST00000640218 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000640306 UniProtKB/TrEMBL
  ENST00000640440 UniProtKB/TrEMBL
Gene3D-CATH 1.10.720.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.120.920 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000153187 GTEx
HGNC ID HGNC:5048 ENTREZGENE
Human Proteome Map HNRNPU Human Proteome Map
InterPro B30.2/SPRY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  B30.2/SPRY_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ConA-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  hnRNP_U UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAP_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPRY_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPRY_hnRNP_U UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3192 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3192 ENTREZGENE
OMIM 602869 OMIM
  617391 OMIM
PANTHER PTHR12381:SF11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPRY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162391486 PharmGKB
PROSITE B302_SPRY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPRY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49899 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF68906 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WVI9_HUMAN UniProtKB/TrEMBL
  A0A087WZF3_HUMAN UniProtKB/TrEMBL
  A0A1W2PNG3_HUMAN UniProtKB/TrEMBL
  A0A1W2PP22_HUMAN UniProtKB/TrEMBL
  A0A1W2PP34_HUMAN UniProtKB/TrEMBL
  A0A1W2PP35_HUMAN UniProtKB/TrEMBL
  A0A1W2PPE9_HUMAN UniProtKB/TrEMBL
  A0A1W2PPH7_HUMAN UniProtKB/TrEMBL
  A0A1W2PPL4_HUMAN UniProtKB/TrEMBL
  A0A1W2PPS1_HUMAN UniProtKB/TrEMBL
  A0A1W2PQ74_HUMAN UniProtKB/TrEMBL
  A0A1W2PQD4_HUMAN UniProtKB/TrEMBL
  A0A1W2PQL0_HUMAN UniProtKB/TrEMBL
  A0A1W2PRI6_HUMAN UniProtKB/TrEMBL
  A0A1W2PRZ7_HUMAN UniProtKB/TrEMBL
  A0A1X7SBS1_HUMAN UniProtKB/TrEMBL
  HNRPU_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5RI18_HUMAN UniProtKB/TrEMBL
  Q96BA7 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary O75507 UniProtKB/Swiss-Prot
  Q8N174 UniProtKB/Swiss-Prot
  Q96HY9 UniProtKB/Swiss-Prot
  Q9BQ09 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-07 HNRNPU  heterogeneous nuclear ribonucleoprotein U    heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)  Symbol and/or name change 5135510 APPROVED
2016-04-05 HNRNPU  heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)  HNRNPU-AS1  HNRNPU antisense RNA 1  Data Merged 737654 PROVISIONAL
2012-08-21 HNRNPU-AS1  HNRNPU antisense RNA 1  HNRNPU-AS1  HNRNPU antisense RNA 1 (non-protein coding)  Symbol and/or name change 5135510 APPROVED
2011-09-01 HNRNPU-AS1  HNRNPU antisense RNA 1 (non-protein coding)  NCRNA00201  non-protein coding RNA 201  Symbol and/or name change 5135510 APPROVED