GLRB (glycine receptor beta) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: GLRB (glycine receptor beta) Homo sapiens
Analyze
Symbol: GLRB
Name: glycine receptor beta
RGD ID: 731361
HGNC Page HGNC:4329
Description: Enables extracellularly glycine-gated ion channel activity. Contributes to extracellularly glycine-gated chloride channel activity and glycine binding activity. Involved in several processes, including chloride transmembrane transport; neuropeptide signaling pathway; and startle response. Is integral component of plasma membrane. Part of glycine-gated chloride channel complex. Implicated in hyperekplexia 2.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: glycine receptor 58 kDa subunit; glycine receptor subunit beta; glycine receptor, beta subunit; HKPX2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384157,076,150 - 157,172,090 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl4157,076,125 - 157,172,090 (+)EnsemblGRCh38hg38GRCh38
GRCh374157,997,302 - 158,093,242 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364158,216,788 - 158,312,304 (+)NCBINCBI36hg18NCBI36
Build 344158,354,942 - 158,450,454NCBI
Celera4155,340,138 - 155,436,102 (+)NCBI
Cytogenetic Map4q32.1NCBI
HuRef4153,748,311 - 153,844,227 (+)NCBIHuRef
CHM1_14157,974,414 - 158,070,403 (+)NCBICHM1_1
T2T-CHM13v2.04160,421,647 - 160,517,588 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. The activation mechanism of alpha1 homomeric glycine receptors. Beato M, etal., J Neurosci. 2004 Jan 28;24(4):895-906.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7546736   PMID:8717357   PMID:9676428   PMID:10395998   PMID:11496371   PMID:11929858   PMID:12477932   PMID:14563849   PMID:14698963   PMID:14741407   PMID:15028279   PMID:15215304  
PMID:15489334   PMID:15748848   PMID:16344560   PMID:18621921   PMID:18985319   PMID:19020133   PMID:19086053   PMID:19204413   PMID:19705103   PMID:19834535   PMID:19874574   PMID:20201926  
PMID:20301437   PMID:21244100   PMID:21391991   PMID:21829170   PMID:21873635   PMID:22132222   PMID:22535951   PMID:22606311   PMID:23182654   PMID:23184146   PMID:23238346   PMID:23333304  
PMID:24108130   PMID:25531214   PMID:26055424   PMID:26186194   PMID:26613940   PMID:26845851   PMID:27609421   PMID:28167838   PMID:28514442   PMID:28872638   PMID:28883437   PMID:30021884  
PMID:30462859   PMID:31444036   PMID:33961781  


Genomics

Comparative Map Data
GLRB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384157,076,150 - 157,172,090 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl4157,076,125 - 157,172,090 (+)EnsemblGRCh38hg38GRCh38
GRCh374157,997,302 - 158,093,242 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364158,216,788 - 158,312,304 (+)NCBINCBI36hg18NCBI36
Build 344158,354,942 - 158,450,454NCBI
Celera4155,340,138 - 155,436,102 (+)NCBI
Cytogenetic Map4q32.1NCBI
HuRef4153,748,311 - 153,844,227 (+)NCBIHuRef
CHM1_14157,974,414 - 158,070,403 (+)NCBICHM1_1
T2T-CHM13v2.04160,421,647 - 160,517,588 (+)NCBI
Glrb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39380,750,905 - 80,820,994 (-)NCBIGRCm39mm39
GRCm39 Ensembl380,750,906 - 80,820,967 (-)Ensembl
GRCm38380,843,598 - 80,913,660 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl380,843,599 - 80,913,660 (-)EnsemblGRCm38mm10GRCm38
MGSCv37380,647,526 - 80,717,546 (-)NCBIGRCm37mm9NCBIm37
MGSCv36380,929,531 - 80,999,551 (-)NCBImm8
Celera380,847,975 - 80,918,248 (-)NCBICelera
Cytogenetic Map3E3NCBI
cM Map335.71NCBI
Glrb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22166,134,624 - 166,207,509 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl2166,134,626 - 166,207,489 (-)Ensembl
Rnor_6.02179,768,040 - 179,842,612 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2179,769,009 - 179,842,547 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02199,176,881 - 199,251,847 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42172,451,807 - 172,522,841 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12172,401,912 - 172,472,947 (-)NCBI
Celera2160,176,470 - 160,246,571 (-)NCBICelera
Cytogenetic Map2q33NCBI
Glrb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547110,152,156 - 10,238,832 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495547110,153,197 - 10,238,052 (-)NCBIChiLan1.0ChiLan1.0
GLRB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.14161,237,189 - 161,333,035 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4161,236,610 - 161,333,035 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v04149,422,654 - 149,518,669 (+)NCBIMhudiblu_PPA_v0panPan3
GLRB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11554,429,131 - 54,519,844 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1554,429,765 - 54,518,456 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1554,768,588 - 54,860,188 (+)NCBI
ROS_Cfam_1.01555,148,897 - 55,240,783 (+)NCBI
ROS_Cfam_1.0 Ensembl1555,148,838 - 55,241,494 (+)Ensembl
UMICH_Zoey_3.11554,388,996 - 54,480,800 (+)NCBI
UNSW_CanFamBas_1.01554,497,373 - 54,589,168 (+)NCBI
UU_Cfam_GSD_1.01554,812,663 - 54,904,694 (+)NCBI
Glrb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530135,794,322 - 35,881,762 (-)NCBI
SpeTri2.0NW_0049365763,665,128 - 3,752,592 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GLRB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl845,912,938 - 46,034,448 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1845,912,869 - 46,034,455 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2848,009,454 - 48,070,932 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GLRB
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.17103,669,663 - 103,760,005 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl7103,669,616 - 103,760,531 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603783,270,028 - 83,444,133 (+)NCBIVero_WHO_p1.0
Glrb
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248481,298,174 - 1,384,513 (-)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_0046248481,301,051 - 1,383,931 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
SHGC-67413  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374158,092,200 - 158,092,414UniSTSGRCh37
Build 364158,311,650 - 158,311,864RGDNCBI36
Celera4155,435,060 - 155,435,274RGD
Cytogenetic Map4q31.3UniSTS
HuRef4153,843,185 - 153,843,399UniSTS
GeneMap99-GB4 RH Map4644.85UniSTS
NCBI RH Map41625.9UniSTS
SHGC-146895  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374158,037,149 - 158,037,454UniSTSGRCh37
Build 364158,256,599 - 158,256,904RGDNCBI36
Celera4155,380,009 - 155,380,314RGD
Cytogenetic Map4q31.3UniSTS
HuRef4153,788,181 - 153,788,486UniSTS
TNG Radiation Hybrid Map494718.0UniSTS
GLRB_977  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374158,091,661 - 158,092,525UniSTSGRCh37
Build 364158,311,111 - 158,311,975RGDNCBI36
Celera4155,434,521 - 155,435,385RGD
HuRef4153,842,646 - 153,843,510UniSTS
SHGC-59742  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374158,091,984 - 158,092,226UniSTSGRCh37
Build 364158,311,434 - 158,311,676RGDNCBI36
Celera4155,434,844 - 155,435,086RGD
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map3p25.3UniSTS
HuRef39,689,731 - 9,691,067UniSTS
HuRef4153,842,969 - 153,843,211UniSTS
GeneMap99-GB4 RH Map4642.76UniSTS
SHGC-31659  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374158,091,911 - 158,092,123UniSTSGRCh37
Build 364158,311,361 - 158,311,573RGDNCBI36
Celera4155,434,771 - 155,434,983RGD
Cytogenetic Map4q31.3UniSTS
HuRef4153,842,896 - 153,843,108UniSTS
GeneMap99-G3 RH Map48617.0UniSTS
SHGC-50349  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374158,091,953 - 158,092,049UniSTSGRCh37
Build 364158,311,403 - 158,311,499RGDNCBI36
Celera4155,434,813 - 155,434,909RGD
Cytogenetic Map4q31.3UniSTS
HuRef4153,842,938 - 153,843,034UniSTS
TNG Radiation Hybrid Map494742.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1406
Count of miRNA genes:606
Interacting mature miRNAs:677
Transcripts:ENST00000264428, ENST00000506411, ENST00000509282, ENST00000510970, ENST00000512619, ENST00000515642, ENST00000541722
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 30 589 181 32 19 12 189 23 2207 78 126 113 20 1 6 166 1 2
Low 2001 1566 1152 325 161 193 3966 2014 1505 253 1278 1351 140 1156 2529 3
Below cutoff 303 543 361 238 877 228 187 153 19 77 45 137 11 42 93 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_015823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001166060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001166061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047450075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001741207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002959723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC079403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF094754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF094755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY426990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA437106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD013911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA168145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA528659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB479295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U33267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000264428   ⟹   ENSP00000264428
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4157,076,150 - 157,172,090 (+)Ensembl
RefSeq Acc Id: ENST00000506411   ⟹   ENSP00000422039
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4157,076,204 - 157,138,872 (+)Ensembl
RefSeq Acc Id: ENST00000509282   ⟹   ENSP00000427186
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4157,076,403 - 157,170,806 (+)Ensembl
RefSeq Acc Id: ENST00000510970
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4157,136,365 - 157,138,900 (+)Ensembl
RefSeq Acc Id: ENST00000512619   ⟹   ENSP00000425433
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4157,076,195 - 157,170,905 (+)Ensembl
RefSeq Acc Id: ENST00000515642   ⟹   ENSP00000421044
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4157,076,166 - 157,136,511 (+)Ensembl
RefSeq Acc Id: ENST00000541722   ⟹   ENSP00000441873
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4157,076,125 - 157,172,090 (+)Ensembl
RefSeq Acc Id: NM_000824   ⟹   NP_000815
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384157,076,150 - 157,172,090 (+)NCBI
GRCh374157,997,277 - 158,093,251 (+)NCBI
Build 364158,216,788 - 158,312,304 (+)NCBI Archive
HuRef4153,748,311 - 153,844,227 (+)ENTREZGENE
CHM1_14157,974,414 - 158,070,403 (+)NCBI
T2T-CHM13v2.04160,421,647 - 160,517,588 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001166060   ⟹   NP_001159532
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384157,076,403 - 157,172,090 (+)NCBI
GRCh374157,997,277 - 158,093,251 (+)NCBI
HuRef4153,748,311 - 153,844,227 (+)ENTREZGENE
CHM1_14157,974,692 - 158,070,403 (+)NCBI
T2T-CHM13v2.04160,421,900 - 160,517,588 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001166061   ⟹   NP_001159533
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384157,076,150 - 157,172,090 (+)NCBI
GRCh374157,997,277 - 158,093,251 (+)NCBI
HuRef4153,748,311 - 153,844,227 (+)ENTREZGENE
CHM1_14157,974,414 - 158,070,403 (+)NCBI
T2T-CHM13v2.04160,421,647 - 160,517,588 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008034   ⟹   XP_016863523
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384157,084,606 - 157,172,090 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008035   ⟹   XP_016863524
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384157,076,403 - 157,172,090 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047450075   ⟹   XP_047306031
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384157,076,150 - 157,145,635 (+)NCBI
Reference Sequences
RefSeq Acc Id: NP_000815   ⟸   NM_000824
- Peptide Label: isoform A precursor
- UniProtKB: P48167 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001159533   ⟸   NM_001166061
- Peptide Label: isoform B precursor
- UniProtKB: P48167 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001159532   ⟸   NM_001166060
- Peptide Label: isoform A precursor
- UniProtKB: P48167 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016863524   ⟸   XM_017008035
- Peptide Label: isoform X3
- UniProtKB: P48167 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016863523   ⟸   XM_017008034
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000441873   ⟸   ENST00000541722
RefSeq Acc Id: ENSP00000422039   ⟸   ENST00000506411
RefSeq Acc Id: ENSP00000427186   ⟸   ENST00000509282
RefSeq Acc Id: ENSP00000425433   ⟸   ENST00000512619
RefSeq Acc Id: ENSP00000264428   ⟸   ENST00000264428
RefSeq Acc Id: ENSP00000421044   ⟸   ENST00000515642
RefSeq Acc Id: XP_047306031   ⟸   XM_047450075
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P48167-F1-model_v2 AlphaFold P48167 1-497 view protein structure

Promoters
RGD ID:6868756
Promoter ID:EPDNEW_H7543
Type:initiation region
Name:GLRB_1
Description:glycine receptor beta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384157,076,150 - 157,076,210EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000824.5(GLRB):c.752G>A (p.Gly251Asp) single nucleotide variant Hyperekplexia 2 [RCV000017436] Chr4:157143807 [GRCh38]
Chr4:158064959 [GRCh37]
Chr4:4q32.1
pathogenic
NM_000824.5(GLRB):c.610+5G>A single nucleotide variant Hyperekplexia 2 [RCV000017437] Chr4:157136891 [GRCh38]
Chr4:158058043 [GRCh37]
Chr4:4q32.1
pathogenic|likely pathogenic
NM_000824.5(GLRB):c.596T>G (p.Met199Arg) single nucleotide variant Hyperekplexia 2 [RCV000024246] Chr4:157136872 [GRCh38]
Chr4:158058024 [GRCh37]
Chr4:4q32.1
pathogenic
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2
pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2
pathogenic
GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3 copy number gain See cases [RCV000051788] Chr4:147317283..173675559 [GRCh38]
Chr4:148238435..174596710 [GRCh37]
Chr4:148457885..174833285 [NCBI36]
Chr4:4q31.22-34.1
pathogenic
GRCh38/hg38 4q31.23-35.2(chr4:148356485-189548183)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|See cases [RCV000051789] Chr4:148356485..189548183 [GRCh38]
Chr4:149277637..190469337 [GRCh37]
Chr4:149497087..190706331 [NCBI36]
Chr4:4q31.23-35.2
pathogenic
GRCh38/hg38 4q32.1(chr4:156252927-160451424)x3 copy number gain See cases [RCV000051790] Chr4:156252927..160451424 [GRCh38]
Chr4:157174079..161372576 [GRCh37]
Chr4:157393529..161592026 [NCBI36]
Chr4:4q32.1
pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3
pathogenic
NM_000824.4(GLRB):c.499C>T (p.Arg167Cys) single nucleotide variant Malignant melanoma [RCV000060935] Chr4:157136670 [GRCh38]
Chr4:158057822 [GRCh37]
Chr4:158277272 [NCBI36]
Chr4:4q32.1
not provided
NM_000824.4(GLRB):c.688C>T (p.Gln230Ter) single nucleotide variant Malignant melanoma [RCV000060936] Chr4:157138886 [GRCh38]
Chr4:158060038 [GRCh37]
Chr4:158279488 [NCBI36]
Chr4:4q32.1
not provided
NM_000824.5(GLRB):c.1054G>A (p.Val352Met) single nucleotide variant Hyperekplexia 2 [RCV001945012] Chr4:157152867 [GRCh38]
Chr4:158074019 [GRCh37]
Chr4:4q32.1
uncertain significance
GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1 copy number loss See cases [RCV000135696] Chr4:151299810..160314050 [GRCh38]
Chr4:152220962..161235202 [GRCh37]
Chr4:152440412..161454652 [NCBI36]
Chr4:4q31.3-32.1
likely pathogenic
GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3 copy number gain See cases [RCV000135845] Chr4:145042668..189975519 [GRCh38]
Chr4:145963820..190828225 [GRCh37]
Chr4:146183270..191133668 [NCBI36]
Chr4:4q31.21-35.2
pathogenic
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 copy number gain See cases [RCV000136810] Chr4:138510532..189963195 [GRCh38]
Chr4:139431686..190828225 [GRCh37]
Chr4:139651136..191121344 [NCBI36]
Chr4:4q31.1-35.2
pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 copy number gain See cases [RCV000137721] Chr4:131985253..190095391 [GRCh38]
Chr4:132906408..190828225 [GRCh37]
Chr4:133125858..191250527 [NCBI36]
Chr4:4q28.3-35.2
pathogenic|likely benign
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 copy number gain See cases [RCV000138578] Chr4:125432943..185761887 [GRCh38]
Chr4:126354098..186683041 [GRCh37]
Chr4:126573548..186920035 [NCBI36]
Chr4:4q28.1-35.1
pathogenic|likely benign
GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1 copy number loss See cases [RCV000141861] Chr4:155162982..170959553 [GRCh38]
Chr4:156084134..171880704 [GRCh37]
Chr4:156303584..172117279 [NCBI36]
Chr4:4q32.1-33
pathogenic
GRCh38/hg38 4q32.1(chr4:156633209-157164720)x1 copy number loss See cases [RCV000142707] Chr4:156633209..157164720 [GRCh38]
Chr4:157554361..158085872 [GRCh37]
Chr4:157773811..158305322 [NCBI36]
Chr4:4q32.1
uncertain significance
GRCh38/hg38 4q32.1-32.2(chr4:156499748-163386407)x3 copy number gain See cases [RCV000143621] Chr4:156499748..163386407 [GRCh38]
Chr4:157420900..164307559 [GRCh37]
Chr4:157640350..164527009 [NCBI36]
Chr4:4q32.1-32.2
likely pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 copy number gain See cases [RCV000143559] Chr4:134935616..190036318 [GRCh38]
Chr4:135856771..190957473 [GRCh37]
Chr4:136076221..191194467 [NCBI36]
Chr4:4q28.3-35.2
pathogenic
GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3 copy number gain See cases [RCV000240245] Chr4:136912336..184253252 [GRCh37]
Chr4:4q28.3-35.1
pathogenic
NM_000824.5(GLRB):c.*853T>C single nucleotide variant Hyperekplexia 2 [RCV000259307] Chr4:157171581 [GRCh38]
Chr4:158092733 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.904+4A>T single nucleotide variant Hyperekplexia 2 [RCV000974723]|not provided [RCV001683385] Chr4:157143963 [GRCh38]
Chr4:158065115 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.*542T>A single nucleotide variant Hyperekplexia 2 [RCV000265619] Chr4:157171270 [GRCh38]
Chr4:158092422 [GRCh37]
Chr4:4q32.1
benign
NM_001166061.1(GLRB):c.-182C>G single nucleotide variant Hyperekplexia 2 [RCV000283798] Chr4:157076145 [GRCh38]
Chr4:157997297 [GRCh37]
Chr4:4q32.1
benign|likely benign
NM_000824.5(GLRB):c.-69C>T single nucleotide variant Hyperekplexia 2 [RCV000280353] Chr4:157076258 [GRCh38]
Chr4:157997410 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.1385C>T (p.Ala462Val) single nucleotide variant Hyperekplexia 2 [RCV000911953] Chr4:157170619 [GRCh38]
Chr4:158091771 [GRCh37]
Chr4:4q32.1
benign|likely benign
NM_000824.5(GLRB):c.1037A>G (p.Glu346Gly) single nucleotide variant Hyperekplexia 2 [RCV000268287] Chr4:157152850 [GRCh38]
Chr4:158074002 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.692T>C (p.Phe231Ser) single nucleotide variant Hyperekplexia 2 [RCV000268730] Chr4:157138890 [GRCh38]
Chr4:158060042 [GRCh37]
Chr4:4q32.1
uncertain significance
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 copy number gain See cases [RCV000240392] Chr4:119437495..190904301 [GRCh37]
Chr4:4q26-35.2
pathogenic
NM_000824.5(GLRB):c.122+4T>A single nucleotide variant Hyperekplexia 2 [RCV000300257]|not provided [RCV001618620] Chr4:157078150 [GRCh38]
Chr4:157999302 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.1044A>G (p.Ala348=) single nucleotide variant Hyperekplexia 2 [RCV000316396] Chr4:157152857 [GRCh38]
Chr4:158074009 [GRCh37]
Chr4:4q32.1
benign|likely benign
NM_000824.5(GLRB):c.-26G>T single nucleotide variant Hyperekplexia 2 [RCV000335157]|not provided [RCV001683384] Chr4:157077999 [GRCh38]
Chr4:157999151 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.*903T>C single nucleotide variant Hyperekplexia 2 [RCV000316856] Chr4:157171631 [GRCh38]
Chr4:158092783 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.-102T>C single nucleotide variant Hyperekplexia 2 [RCV000400947] Chr4:157076225 [GRCh38]
Chr4:157997377 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.952G>A (p.Ala318Thr) single nucleotide variant Hyperekplexia 2 [RCV000379815] Chr4:157152765 [GRCh38]
Chr4:158073917 [GRCh37]
Chr4:4q32.1
benign|likely benign
NM_000824.5(GLRB):c.*575T>C single nucleotide variant Hyperekplexia 2 [RCV000303973] Chr4:157171303 [GRCh38]
Chr4:158092455 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.*84G>A single nucleotide variant Hyperekplexia 2 [RCV000338473] Chr4:157170812 [GRCh38]
Chr4:158091964 [GRCh37]
Chr4:4q32.1
benign|likely benign
NM_000824.5(GLRB):c.948T>C (p.Leu316=) single nucleotide variant Hyperekplexia 2 [RCV000320527]|not provided [RCV001672638] Chr4:157152761 [GRCh38]
Chr4:158073913 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.*789A>G single nucleotide variant Hyperekplexia 2 [RCV000361058] Chr4:157171517 [GRCh38]
Chr4:158092669 [GRCh37]
Chr4:4q32.1
likely benign|uncertain significance
NM_000824.5(GLRB):c.-16A>T single nucleotide variant Hyperekplexia 2 [RCV000407517]|not provided [RCV001709619] Chr4:157078009 [GRCh38]
Chr4:157999161 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.297+10C>T single nucleotide variant Hyperekplexia 2 [RCV000407523]|not provided [RCV001675851] Chr4:157122407 [GRCh38]
Chr4:158043559 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.*251A>G single nucleotide variant Hyperekplexia 2 [RCV000408023] Chr4:157170979 [GRCh38]
Chr4:158092131 [GRCh37]
Chr4:4q32.1
benign|likely benign
NM_000824.5(GLRB):c.*301C>T single nucleotide variant Hyperekplexia 2 [RCV000306760] Chr4:157171029 [GRCh38]
Chr4:158092181 [GRCh37]
Chr4:4q32.1
benign|likely benign
NM_000824.5(GLRB):c.611-14G>A single nucleotide variant Hyperekplexia 2 [RCV000363261] Chr4:157138795 [GRCh38]
Chr4:158059947 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.*139G>A single nucleotide variant Hyperekplexia 2 [RCV000385871] Chr4:157170867 [GRCh38]
Chr4:158092019 [GRCh37]
Chr4:4q32.1
benign|likely benign
NM_000824.5(GLRB):c.*1181C>T single nucleotide variant Hyperekplexia 2 [RCV000386724] Chr4:157171909 [GRCh38]
Chr4:158093061 [GRCh37]
Chr4:4q32.1
benign
NM_001166061.1(GLRB):c.-182C>T single nucleotide variant Hyperekplexia 2 [RCV000343447] Chr4:157076145 [GRCh38]
Chr4:157997297 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.*1345A>G single nucleotide variant Hyperekplexia 2 [RCV000344389] Chr4:157172073 [GRCh38]
Chr4:158093225 [GRCh37]
Chr4:4q32.1
benign|likely benign
NM_000824.5(GLRB):c.904+4A>G single nucleotide variant Hyperekplexia 2 [RCV000963144] Chr4:157143963 [GRCh38]
Chr4:158065115 [GRCh37]
Chr4:4q32.1
benign|likely benign
NM_000824.5(GLRB):c.*160G>A single nucleotide variant Hyperekplexia 2 [RCV000293989]|not provided [RCV001636971] Chr4:157170888 [GRCh38]
Chr4:158092040 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.*454A>G single nucleotide variant Hyperekplexia 2 [RCV000345283] Chr4:157171182 [GRCh38]
Chr4:158092334 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.822C>T (p.Tyr274=) single nucleotide variant Hyperekplexia 2 [RCV001083115]|not provided [RCV000597596] Chr4:157143877 [GRCh38]
Chr4:158065029 [GRCh37]
Chr4:4q32.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000824.5(GLRB):c.*505T>A single nucleotide variant Hyperekplexia 2 [RCV000310261] Chr4:157171233 [GRCh38]
Chr4:158092385 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.229+8T>G single nucleotide variant Hyperekplexia 2 [RCV000973913] Chr4:157120670 [GRCh38]
Chr4:158041822 [GRCh37]
Chr4:4q32.1
benign|likely benign
NM_000824.5(GLRB):c.*1040A>G single nucleotide variant Hyperekplexia 2 [RCV000329840] Chr4:157171768 [GRCh38]
Chr4:158092920 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.*1243A>G single nucleotide variant Hyperekplexia 2 [RCV000296528] Chr4:157171971 [GRCh38]
Chr4:158093123 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.527+7T>C single nucleotide variant Hyperekplexia 2 [RCV000625065] Chr4:157136705 [GRCh38]
Chr4:158057857 [GRCh37]
Chr4:4q32.1
benign|likely benign
NM_000824.5(GLRB):c.*162A>G single nucleotide variant Hyperekplexia 2 [RCV000351055] Chr4:157170890 [GRCh38]
Chr4:158092042 [GRCh37]
Chr4:4q32.1
likely benign|uncertain significance
NM_000824.5(GLRB):c.*1013A>T single nucleotide variant Hyperekplexia 2 [RCV000262933] Chr4:157171741 [GRCh38]
Chr4:158092893 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.4(GLRB):c.*1367T>C single nucleotide variant Hyperekplexia [RCV000259866] Chr4:157172095 [GRCh38]
Chr4:158093247 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.*467dup duplication Hyperekplexia [RCV000408331] Chr4:157171194..157171195 [GRCh38]
Chr4:158092346..158092347 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.1365CAA[1] (p.Asn456del) microsatellite Hyperekplexia 2 [RCV000650383]|Hyperekplexia [RCV000373316] Chr4:157170597..157170599 [GRCh38]
Chr4:158091749..158091751 [GRCh37]
Chr4:4q32.1
likely benign|uncertain significance
NM_000824.5(GLRB):c.*996del deletion Hyperekplexia [RCV000373947] Chr4:157171718 [GRCh38]
Chr4:158092870 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.*516G>A single nucleotide variant Hyperekplexia 2 [RCV000357994] Chr4:157171244 [GRCh38]
Chr4:158092396 [GRCh37]
Chr4:4q32.1
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3 copy number gain See cases [RCV000510713] Chr4:153890440..190957473 [GRCh37]
Chr4:4q31.3-35.2
pathogenic
GRCh37/hg19 4q31.3-32.2(chr4:153203431-162912359)x1 copy number loss See cases [RCV000511404] Chr4:153203431..162912359 [GRCh37]
Chr4:4q31.3-32.2
pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2
pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2
pathogenic
NM_000824.5(GLRB):c.798C>T (p.Val266=) single nucleotide variant Hyperekplexia 2 [RCV000650386] Chr4:157143853 [GRCh38]
Chr4:158065005 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.1221dup (p.Val408fs) duplication Hyperekplexia 2 [RCV000650385] Chr4:157170449..157170450 [GRCh38]
Chr4:158091601..158091602 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.798_800delinsGATGATGGGGGT (p.Gly267delinsMetMetGlyVal) indel Hyperekplexia 2 [RCV000650384] Chr4:157143853..157143855 [GRCh38]
Chr4:158065005..158065007 [GRCh37]
Chr4:4q32.1
uncertain significance
GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3 copy number gain See cases [RCV000512542] Chr4:156465633..190957473 [GRCh37]
Chr4:4q32.1-35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q31.3-32.1(chr4:154763131-158404825)x1 copy number loss not provided [RCV000682474] Chr4:154763131..158404825 [GRCh37]
Chr4:4q31.3-32.1
likely pathogenic
GRCh37/hg19 4q32.1-35.1(chr4:157552397-183831253)x3 copy number gain not provided [RCV000682475] Chr4:157552397..183831253 [GRCh37]
Chr4:4q32.1-35.1
pathogenic
NM_000824.5(GLRB):c.472del (p.Gln158fs) deletion Hyperekplexia 2 [RCV000706970] Chr4:157136641 [GRCh38]
Chr4:158057793 [GRCh37]
Chr4:4q32.1
pathogenic
NM_000824.5(GLRB):c.448dup (p.Ser150fs) duplication Hyperekplexia 2 [RCV000696337] Chr4:157136613..157136614 [GRCh38]
Chr4:158057765..158057766 [GRCh37]
Chr4:4q32.1
pathogenic
NM_000824.5(GLRB):c.123-2A>G single nucleotide variant Hyperekplexia 2 [RCV000696345] Chr4:157120554 [GRCh38]
Chr4:158041706 [GRCh37]
Chr4:4q32.1
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q32.1(chr4:157964285-158115848)x3 copy number gain not provided [RCV000744075] Chr4:157964285..158115848 [GRCh37]
Chr4:4q32.1
benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_000824.5(GLRB):c.122+230T>C single nucleotide variant not provided [RCV001648167] Chr4:157078376 [GRCh38]
Chr4:157999528 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.122+1G>A single nucleotide variant Hyperekplexia 2 [RCV000987485] Chr4:157078147 [GRCh38]
Chr4:157999299 [GRCh37]
Chr4:4q32.1
pathogenic
NM_000824.5(GLRB):c.*750G>A single nucleotide variant Hyperekplexia 2 [RCV001149508] Chr4:157171478 [GRCh38]
Chr4:158092630 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.230-199del deletion not provided [RCV001643664] Chr4:157122131 [GRCh38]
Chr4:158043283 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.149G>A (p.Arg50Gln) single nucleotide variant Hyperekplexia 2 [RCV001147868] Chr4:157120582 [GRCh38]
Chr4:158041734 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.1020G>A (p.Gly340=) single nucleotide variant Hyperekplexia 2 [RCV000929311] Chr4:157152833 [GRCh38]
Chr4:158073985 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.786G>A (p.Leu262=) single nucleotide variant not provided [RCV000923146] Chr4:157143841 [GRCh38]
Chr4:158064993 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.1230T>C (p.Thr410=) single nucleotide variant Hyperekplexia 2 [RCV002065989]|not provided [RCV000923368] Chr4:157170464 [GRCh38]
Chr4:158091616 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.1414C>A (p.Arg472=) single nucleotide variant not provided [RCV000927032] Chr4:157170648 [GRCh38]
Chr4:158091800 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.1380C>T (p.Pro460=) single nucleotide variant Hyperekplexia 2 [RCV000926121] Chr4:157170614 [GRCh38]
Chr4:158091766 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.765C>T (p.Cys255=) single nucleotide variant Hyperekplexia 2 [RCV000887721] Chr4:157143820 [GRCh38]
Chr4:158064972 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.222C>T (p.Asn74=) single nucleotide variant Hyperekplexia 2 [RCV000900535] Chr4:157120655 [GRCh38]
Chr4:158041807 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.624T>C (p.Thr208=) single nucleotide variant Hyperekplexia 2 [RCV000967638] Chr4:157138822 [GRCh38]
Chr4:158059974 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.242A>G (p.Asp81Gly) single nucleotide variant Hyperekplexia 2 [RCV000797404] Chr4:157122342 [GRCh38]
Chr4:158043494 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.185G>A (p.Arg62Lys) single nucleotide variant Hyperekplexia 2 [RCV000806578] Chr4:157120618 [GRCh38]
Chr4:158041770 [GRCh37]
Chr4:4q32.1
likely benign|uncertain significance
GRCh37/hg19 4q31.3-32.1(chr4:154907679-159012980)x1 copy number loss not provided [RCV000848578] Chr4:154907679..159012980 [GRCh37]
Chr4:4q31.3-32.1
uncertain significance
NM_000824.5(GLRB):c.423T>C (p.Pro141=) single nucleotide variant Hyperekplexia 2 [RCV001149411] Chr4:157136594 [GRCh38]
Chr4:158057746 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.*594A>T single nucleotide variant Hyperekplexia 2 [RCV001149506] Chr4:157171322 [GRCh38]
Chr4:158092474 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.*782T>C single nucleotide variant Hyperekplexia 2 [RCV001149509] Chr4:157171510 [GRCh38]
Chr4:158092662 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.*787C>T single nucleotide variant Hyperekplexia 2 [RCV001149510] Chr4:157171515 [GRCh38]
Chr4:158092667 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.-29-8T>C single nucleotide variant Hyperekplexia 2 [RCV001147865] Chr4:157077988 [GRCh38]
Chr4:157999140 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.37A>G (p.Ile13Val) single nucleotide variant Hyperekplexia 2 [RCV001147866] Chr4:157078061 [GRCh38]
Chr4:157999213 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.92A>G (p.Lys31Arg) single nucleotide variant Hyperekplexia 2 [RCV001147867] Chr4:157078116 [GRCh38]
Chr4:157999268 [GRCh37]
Chr4:4q32.1
benign|likely benign
NM_000824.5(GLRB):c.377A>T (p.Asp126Val) single nucleotide variant Hyperekplexia 2 [RCV001149410] Chr4:157136548 [GRCh38]
Chr4:158057700 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.541C>G (p.Leu181Val) single nucleotide variant Hyperekplexia 2 [RCV001149412] Chr4:157136817 [GRCh38]
Chr4:158057969 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.*334T>C single nucleotide variant Hyperekplexia 2 [RCV001147958] Chr4:157171062 [GRCh38]
Chr4:158092214 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.24del (p.Phe9_Leu10insTer) deletion Hyperekplexia 2 [RCV000809084] Chr4:157078047 [GRCh38]
Chr4:157999199 [GRCh37]
Chr4:4q32.1
pathogenic
NC_000004.12:g.(?_157170412)_(157170748_?)del deletion Hyperekplexia 2 [RCV000821931] Chr4:157170412..157170748 [GRCh38]
Chr4:158091564..158091900 [GRCh37]
Chr4:4q32.1
likely pathogenic
NM_000824.5(GLRB):c.*202T>C single nucleotide variant Hyperekplexia 2 [RCV001147957] Chr4:157170930 [GRCh38]
Chr4:158092082 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.1385C>G (p.Ala462Gly) single nucleotide variant Hyperekplexia 2 [RCV001147058] Chr4:157170619 [GRCh38]
Chr4:158091771 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.*23A>G single nucleotide variant Hyperekplexia 2 [RCV001147059] Chr4:157170751 [GRCh38]
Chr4:158091903 [GRCh37]
Chr4:4q32.1
benign
GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3 copy number gain not provided [RCV000849686] Chr4:124873497..185278662 [GRCh37]
Chr4:4q28.1-35.1
pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3 copy number gain not provided [RCV000849098] Chr4:151174061..190957473 [GRCh37]
Chr4:4q31.3-35.2
pathogenic
NM_000824.5(GLRB):c.961C>T (p.Pro321Ser) single nucleotide variant Hyperekplexia 2 [RCV001223661] Chr4:157152774 [GRCh38]
Chr4:158073926 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.-89C>T single nucleotide variant Hyperekplexia 2 [RCV001146959] Chr4:157076238 [GRCh38]
Chr4:157997390 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.229+154A>G single nucleotide variant not provided [RCV001639065] Chr4:157120816 [GRCh38]
Chr4:158041968 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.611-66A>G single nucleotide variant not provided [RCV001613595] Chr4:157138743 [GRCh38]
Chr4:158059895 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.297+86C>T single nucleotide variant not provided [RCV001650057] Chr4:157122483 [GRCh38]
Chr4:158043635 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.229+138T>C single nucleotide variant not provided [RCV001615015] Chr4:157120800 [GRCh38]
Chr4:158041952 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.831= (p.Thr277=) variation Hyperekplexia 2 [RCV000954820] Chr4:157143886 [GRCh38]
Chr4:158065038 [GRCh37]
Chr4:4q32.1
benign
NC_000004.12:g.157076115G>A single nucleotide variant Hyperekplexia 2 [RCV001146958] Chr4:157076115 [GRCh38]
Chr4:157997267 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.307G>A (p.Val103Ile) single nucleotide variant Hyperekplexia 2 [RCV001066515] Chr4:157136478 [GRCh38]
Chr4:158057630 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.210G>A (p.Arg70=) single nucleotide variant Hyperekplexia 2 [RCV001149409] Chr4:157120643 [GRCh38]
Chr4:158041795 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.*694T>C single nucleotide variant Hyperekplexia 2 [RCV001149507] Chr4:157171422 [GRCh38]
Chr4:158092574 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.1338C>T (p.Asn446=) single nucleotide variant Hyperekplexia 2 [RCV002065828]|not provided [RCV000912440] Chr4:157170572 [GRCh38]
Chr4:158091724 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.230-198C>T single nucleotide variant not provided [RCV001641283] Chr4:157122132 [GRCh38]
Chr4:158043284 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.123-118dup duplication not provided [RCV001641498] Chr4:157120433..157120434 [GRCh38]
Chr4:158041585..158041586 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.751+178del deletion not provided [RCV001709801] Chr4:157139122 [GRCh38]
Chr4:158060274 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.1197+196G>A single nucleotide variant not provided [RCV001669172] Chr4:157153206 [GRCh38]
Chr4:158074358 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.229+82G>A single nucleotide variant not provided [RCV001652378] Chr4:157120744 [GRCh38]
Chr4:158041896 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.123-117G>A single nucleotide variant not provided [RCV001652064] Chr4:157120439 [GRCh38]
Chr4:158041591 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.230-165C>T single nucleotide variant not provided [RCV001725439] Chr4:157122165 [GRCh38]
Chr4:158043317 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.1431_1452dup (p.Phe485fs) duplication Hyperekplexia 2 [RCV001245713] Chr4:157170661..157170662 [GRCh38]
Chr4:158091813..158091814 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.1342C>T (p.Leu448Phe) single nucleotide variant Hyperekplexia 2 [RCV001069938] Chr4:157170576 [GRCh38]
Chr4:158091728 [GRCh37]
Chr4:4q32.1
uncertain significance
GRCh37/hg19 4q32.1(chr4:156578400-158404825)x1 copy number loss not provided [RCV001005608] Chr4:156578400..158404825 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.*997A>T single nucleotide variant Hyperekplexia 2 [RCV001145209] Chr4:157171725 [GRCh38]
Chr4:158092877 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.*437A>G single nucleotide variant Hyperekplexia 2 [RCV001147959] Chr4:157171165 [GRCh38]
Chr4:158092317 [GRCh37]
Chr4:4q32.1
uncertain significance
GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3 copy number gain not provided [RCV001537926] Chr4:131303317..168722402 [GRCh37]
Chr4:4q28.3-32.3
pathogenic
NM_000824.5(GLRB):c.226A>C (p.Lys76Gln) single nucleotide variant Hyperekplexia 2 [RCV001305466] Chr4:157120659 [GRCh38]
Chr4:158041811 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.298-6del deletion Hyperekplexia 2 [RCV001317663] Chr4:157136463 [GRCh38]
Chr4:158057615 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.34T>G (p.Leu12Val) single nucleotide variant Hyperekplexia 2 [RCV001324001] Chr4:157078058 [GRCh38]
Chr4:157999210 [GRCh37]
Chr4:4q32.1
uncertain significance
GRCh37/hg19 4q32.1-34.1(chr4:157771352-172496278) copy number loss Autism with high cognitive abilities [RCV001352663] Chr4:157771352..172496278 [GRCh37]
Chr4:4q32.1-34.1
pathogenic
NM_000824.5(GLRB):c.120A>G (p.Pro40=) single nucleotide variant Hyperekplexia 2 [RCV001421566] Chr4:157078144 [GRCh38]
Chr4:157999296 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.123-7C>T single nucleotide variant Hyperekplexia 2 [RCV001494492] Chr4:157120549 [GRCh38]
Chr4:158041701 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.297+1G>T single nucleotide variant Hyperekplexia 2 [RCV001378213] Chr4:157122398 [GRCh38]
Chr4:158043550 [GRCh37]
Chr4:4q32.1
likely pathogenic
NM_000824.5(GLRB):c.205C>T (p.Pro69Ser) single nucleotide variant Hyperekplexia 2 [RCV001452467] Chr4:157120638 [GRCh38]
Chr4:158041790 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.736T>C (p.Tyr246His) single nucleotide variant Hyperekplexia 2 [RCV001503834] Chr4:157138934 [GRCh38]
Chr4:158060086 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.610+7A>C single nucleotide variant Hyperekplexia 2 [RCV001501815] Chr4:157136893 [GRCh38]
Chr4:158058045 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.1133G>A (p.Gly378Glu) single nucleotide variant Hyperekplexia 2 [RCV001490039] Chr4:157152946 [GRCh38]
Chr4:158074098 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.634C>T (p.Arg212Ter) single nucleotide variant Hyperekplexia 2 [RCV001390948] Chr4:157138832 [GRCh38]
Chr4:158059984 [GRCh37]
Chr4:4q32.1
pathogenic
NM_000824.5(GLRB):c.297+71T>C single nucleotide variant not provided [RCV001612610] Chr4:157122468 [GRCh38]
Chr4:158043620 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.313A>G (p.Ile105Val) single nucleotide variant Hyperekplexia 2 [RCV001452548] Chr4:157136484 [GRCh38]
Chr4:158057636 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.831T>C (p.Thr277=) single nucleotide variant Hyperekplexia 2 [RCV001515474] Chr4:157143886 [GRCh38]
Chr4:158065038 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.132A>C (p.Ser44=) single nucleotide variant Hyperekplexia 2 [RCV001441474] Chr4:157120565 [GRCh38]
Chr4:158041717 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.1114C>T (p.Gln372Ter) single nucleotide variant Hyperekplexia 2 [RCV001729861] Chr4:157152927 [GRCh38]
Chr4:158074079 [GRCh37]
Chr4:4q32.1
pathogenic
NM_000824.5(GLRB):c.1478G>A (p.Trp493Ter) single nucleotide variant not provided [RCV001797343] Chr4:157170712 [GRCh38]
Chr4:158091864 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.149G>T (p.Arg50Leu) single nucleotide variant Hyperekplexia 2 [RCV001892387] Chr4:157120582 [GRCh38]
Chr4:158041734 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.500G>A (p.Arg167His) single nucleotide variant Hyperekplexia 2 [RCV001929402] Chr4:157136671 [GRCh38]
Chr4:158057823 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.848T>C (p.Leu283Pro) single nucleotide variant Hyperekplexia 2 [RCV002025595] Chr4:157143903 [GRCh38]
Chr4:158065055 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.1028C>T (p.Ser343Phe) single nucleotide variant Hyperekplexia 2 [RCV001930086] Chr4:157152841 [GRCh38]
Chr4:158073993 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.415T>C (p.Trp139Arg) single nucleotide variant Hyperekplexia 2 [RCV001949876] Chr4:157136586 [GRCh38]
Chr4:158057738 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.929C>T (p.Ala310Val) single nucleotide variant Hyperekplexia 2 [RCV001930058] Chr4:157152742 [GRCh38]
Chr4:158073894 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.1399C>T (p.Pro467Ser) single nucleotide variant Hyperekplexia 2 [RCV001950341] Chr4:157170633 [GRCh38]
Chr4:158091785 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.1428T>A (p.Tyr476Ter) single nucleotide variant Hyperekplexia 2 [RCV002021847] Chr4:157170662 [GRCh38]
Chr4:158091814 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.749C>G (p.Thr250Arg) single nucleotide variant Hyperekplexia 2 [RCV002004736] Chr4:157138947 [GRCh38]
Chr4:158060099 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.465T>C (p.Asp155=) single nucleotide variant Hyperekplexia 2 [RCV002042546] Chr4:157136636 [GRCh38]
Chr4:158057788 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.1415G>A (p.Arg472Gln) single nucleotide variant Hyperekplexia 2 [RCV001982703] Chr4:157170649 [GRCh38]
Chr4:158091801 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.766G>A (p.Val256Met) single nucleotide variant Hyperekplexia 2 [RCV001893747] Chr4:157143821 [GRCh38]
Chr4:158064973 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.1381C>A (p.Pro461Thr) single nucleotide variant Hyperekplexia 2 [RCV002021653] Chr4:157170615 [GRCh38]
Chr4:158091767 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.97A>G (p.Lys33Glu) single nucleotide variant Hyperekplexia 2 [RCV002044237] Chr4:157078121 [GRCh38]
Chr4:157999273 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.1197+4A>T single nucleotide variant Hyperekplexia 2 [RCV001928788] Chr4:157153014 [GRCh38]
Chr4:158074166 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.745G>A (p.Gly249Ser) single nucleotide variant Hyperekplexia 2 [RCV002024686] Chr4:157138943 [GRCh38]
Chr4:158060095 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.323G>C (p.Arg108Thr) single nucleotide variant Hyperekplexia 2 [RCV001910277] Chr4:157136494 [GRCh38]
Chr4:158057646 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.1213T>G (p.Cys405Gly) single nucleotide variant Hyperekplexia 2 [RCV002024146] Chr4:157170447 [GRCh38]
Chr4:158091599 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.59C>T (p.Ala20Val) single nucleotide variant Hyperekplexia 2 [RCV001964562] Chr4:157078083 [GRCh38]
Chr4:157999235 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.212T>G (p.Ile71Arg) single nucleotide variant Hyperekplexia 2 [RCV002006848] Chr4:157120645 [GRCh38]
Chr4:158041797 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.122+3A>G single nucleotide variant Hyperekplexia 2 [RCV002039661] Chr4:157078149 [GRCh38]
Chr4:157999301 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.1448del (p.Phe483fs) deletion Hyperekplexia 2 [RCV002044477] Chr4:157170680 [GRCh38]
Chr4:158091832 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.1117G>C (p.Ala373Pro) single nucleotide variant Hyperekplexia 2 [RCV001913122] Chr4:157152930 [GRCh38]
Chr4:158074082 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.325C>A (p.Gln109Lys) single nucleotide variant Hyperekplexia 2 [RCV001967865] Chr4:157136496 [GRCh38]
Chr4:158057648 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.567G>C (p.Leu189Phe) single nucleotide variant Hyperekplexia 2 [RCV001946444] Chr4:157136843 [GRCh38]
Chr4:158057995 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.121T>C (p.Ser41Pro) single nucleotide variant Hyperekplexia 2 [RCV001909799] Chr4:157078145 [GRCh38]
Chr4:157999297 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.1194G>T (p.Leu398Phe) single nucleotide variant Hyperekplexia 2 [RCV002004033] Chr4:157153007 [GRCh38]
Chr4:158074159 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.587G>A (p.Arg196His) single nucleotide variant Hyperekplexia 2 [RCV001935454] Chr4:157136863 [GRCh38]
Chr4:158058015 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.49G>A (p.Val17Met) single nucleotide variant Hyperekplexia 2 [RCV002000346] Chr4:157078073 [GRCh38]
Chr4:157999225 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.331T>C (p.Trp111Arg) single nucleotide variant Hyperekplexia 2 [RCV002013466] Chr4:157136502 [GRCh38]
Chr4:158057654 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.1456T>G (p.Leu486Val) single nucleotide variant Hyperekplexia 2 [RCV001975850] Chr4:157170690 [GRCh38]
Chr4:158091842 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.1466A>G (p.Asn489Ser) single nucleotide variant Hyperekplexia 2 [RCV001996516] Chr4:157170700 [GRCh38]
Chr4:158091852 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.448A>G (p.Ser150Gly) single nucleotide variant Hyperekplexia 2 [RCV001883126] Chr4:157136619 [GRCh38]
Chr4:158057771 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.272T>C (p.Phe91Ser) single nucleotide variant Hyperekplexia 2 [RCV001887918] Chr4:157122372 [GRCh38]
Chr4:158043524 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.540T>C (p.Thr180=) single nucleotide variant Hyperekplexia 2 [RCV002037962] Chr4:157136816 [GRCh38]
Chr4:158057968 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.751+5G>A single nucleotide variant Hyperekplexia 2 [RCV002049208] Chr4:157138954 [GRCh38]
Chr4:158060106 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.496T>C (p.Phe166Leu) single nucleotide variant Hyperekplexia 2 [RCV001916489] Chr4:157136667 [GRCh38]
Chr4:158057819 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.1285G>A (p.Asp429Asn) single nucleotide variant Hyperekplexia 2 [RCV001935208] Chr4:157170519 [GRCh38]
Chr4:158091671 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.1129G>T (p.Gly377Cys) single nucleotide variant Hyperekplexia 2 [RCV001995633] Chr4:157152942 [GRCh38]
Chr4:158074094 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.586C>T (p.Arg196Cys) single nucleotide variant Hyperekplexia 2 [RCV001954402] Chr4:157136862 [GRCh38]
Chr4:158058014 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.52G>A (p.Glu18Lys) single nucleotide variant Hyperekplexia 2 [RCV001880455] Chr4:157078076 [GRCh38]
Chr4:157999228 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.1004C>T (p.Ala335Val) single nucleotide variant Hyperekplexia 2 [RCV001920794] Chr4:157152817 [GRCh38]
Chr4:158073969 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.653G>A (p.Gly218Glu) single nucleotide variant Hyperekplexia 2 [RCV001931728] Chr4:157138851 [GRCh38]
Chr4:158060003 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.1197+3A>G single nucleotide variant Hyperekplexia 2 [RCV001956649] Chr4:157153013 [GRCh38]
Chr4:158074165 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.455A>G (p.Asn152Ser) single nucleotide variant Hyperekplexia 2 [RCV001878227] Chr4:157136626 [GRCh38]
Chr4:158057778 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.1081G>A (p.Glu361Lys) single nucleotide variant Hyperekplexia 2 [RCV001937336] Chr4:157152894 [GRCh38]
Chr4:158074046 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.722G>A (p.Gly241Asp) single nucleotide variant Hyperekplexia 2 [RCV001973900] Chr4:157138920 [GRCh38]
Chr4:158060072 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.1114C>A (p.Gln372Lys) single nucleotide variant Hyperekplexia 2 [RCV001937899] Chr4:157152927 [GRCh38]
Chr4:158074079 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.611-15T>A single nucleotide variant Hyperekplexia 2 [RCV001898165] Chr4:157138794 [GRCh38]
Chr4:158059946 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.1254T>G (p.Asn418Lys) single nucleotide variant Hyperekplexia 2 [RCV002033100] Chr4:157170488 [GRCh38]
Chr4:158091640 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.1285G>C (p.Asp429His) single nucleotide variant Hyperekplexia 2 [RCV001881558] Chr4:157170519 [GRCh38]
Chr4:158091671 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.668T>C (p.Leu223Ser) single nucleotide variant Hyperekplexia 2 [RCV002049847] Chr4:157138866 [GRCh38]
Chr4:158060018 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.481A>T (p.Ile161Phe) single nucleotide variant Hyperekplexia 2 [RCV001918315] Chr4:157136652 [GRCh38]
Chr4:158057804 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.873C>A (p.Asn291Lys) single nucleotide variant Hyperekplexia 2 [RCV001997261] Chr4:157143928 [GRCh38]
Chr4:158065080 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.1172C>T (p.Thr391Ile) single nucleotide variant Hyperekplexia 2 [RCV002049979] Chr4:157152985 [GRCh38]
Chr4:158074137 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.1339G>A (p.Gly447Arg) single nucleotide variant Hyperekplexia 2 [RCV002051343] Chr4:157170573 [GRCh38]
Chr4:158091725 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.1380_1382del (p.Pro461del) deletion Hyperekplexia 2 [RCV002019734] Chr4:157170612..157170614 [GRCh38]
Chr4:158091764..158091766 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.335A>T (p.Asn112Ile) single nucleotide variant Hyperekplexia 2 [RCV001977292] Chr4:157136506 [GRCh38]
Chr4:158057658 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.914C>T (p.Ser305Leu) single nucleotide variant Hyperekplexia 2 [RCV001886130] Chr4:157152727 [GRCh38]
Chr4:158073879 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.7T>G (p.Phe3Val) single nucleotide variant Hyperekplexia 2 [RCV001866957] Chr4:157078031 [GRCh38]
Chr4:157999183 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.371del (p.Gly124fs) deletion Hyperekplexia 2 [RCV001958945] Chr4:157136539 [GRCh38]
Chr4:158057691 [GRCh37]
Chr4:4q32.1
pathogenic
NM_000824.5(GLRB):c.713T>C (p.Ile238Thr) single nucleotide variant Hyperekplexia 2 [RCV001930754] Chr4:157138911 [GRCh38]
Chr4:158060063 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.544T>C (p.Ser182Pro) single nucleotide variant Hyperekplexia 2 [RCV001897644] Chr4:157136820 [GRCh38]
Chr4:158057972 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.782C>T (p.Thr261Ile) single nucleotide variant Hyperekplexia 2 [RCV001880908] Chr4:157143837 [GRCh38]
Chr4:158064989 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.1375C>G (p.Pro459Ala) single nucleotide variant Hyperekplexia 2 [RCV001997790] Chr4:157170609 [GRCh38]
Chr4:158091761 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.567G>T (p.Leu189Phe) single nucleotide variant Hyperekplexia 2 [RCV001906800] Chr4:157136843 [GRCh38]
Chr4:158057995 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.1371G>C (p.Lys457Asn) single nucleotide variant Hyperekplexia 2 [RCV001982079] Chr4:157170605 [GRCh38]
Chr4:158091757 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.904+3A>G single nucleotide variant Hyperekplexia 2 [RCV002018823] Chr4:157143962 [GRCh38]
Chr4:158065114 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.1479G>T (p.Trp493Cys) single nucleotide variant Hyperekplexia 2 [RCV001960468] Chr4:157170713 [GRCh38]
Chr4:158091865 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.719A>G (p.Tyr240Cys) single nucleotide variant Hyperekplexia 2 [RCV002049573] Chr4:157138917 [GRCh38]
Chr4:158060069 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.95G>A (p.Gly32Glu) single nucleotide variant Hyperekplexia 2 [RCV001991810] Chr4:157078119 [GRCh38]
Chr4:157999271 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.1271G>T (p.Gly424Val) single nucleotide variant Hyperekplexia 2 [RCV001917827] Chr4:157170505 [GRCh38]
Chr4:158091657 [GRCh37]
Chr4:4q32.1
uncertain significance
NC_000004.11:g.(?_157999177)_(158043569_?)dup duplication Hyperekplexia 2 [RCV001958031] Chr4:157999177..158043569 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.511G>A (p.Val171Ile) single nucleotide variant Hyperekplexia 2 [RCV001976723] Chr4:157136682 [GRCh38]
Chr4:158057834 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.127C>G (p.Gln43Glu) single nucleotide variant Hyperekplexia 2 [RCV002048050] Chr4:157120560 [GRCh38]
Chr4:158041712 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.538A>G (p.Thr180Ala) single nucleotide variant Hyperekplexia 2 [RCV001902972] Chr4:157136814 [GRCh38]
Chr4:158057966 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.250G>A (p.Val84Ile) single nucleotide variant Hyperekplexia 2 [RCV001952203] Chr4:157122350 [GRCh38]
Chr4:158043502 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.123-14TC[3] microsatellite Hyperekplexia 2 [RCV002016849] Chr4:157120542..157120543 [GRCh38]
Chr4:158041694..158041695 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.1390C>A (p.Pro464Thr) single nucleotide variant Hyperekplexia 2 [RCV001956988] Chr4:157170624 [GRCh38]
Chr4:158091776 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.844G>A (p.Val282Ile) single nucleotide variant Hyperekplexia 2 [RCV002031207] Chr4:157143899 [GRCh38]
Chr4:158065051 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.853T>G (p.Trp285Gly) single nucleotide variant Hyperekplexia 2 [RCV001918141] Chr4:157143908 [GRCh38]
Chr4:158065060 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_000824.5(GLRB):c.453C>G (p.Ala151=) single nucleotide variant Hyperekplexia 2 [RCV002105101] Chr4:157136624 [GRCh38]
Chr4:158057776 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.752-13T>C single nucleotide variant Hyperekplexia 2 [RCV002147846] Chr4:157143794 [GRCh38]
Chr4:158064946 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.752-6T>C single nucleotide variant Hyperekplexia 2 [RCV002085190] Chr4:157143801 [GRCh38]
Chr4:158064953 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.1458G>C (p.Leu486Phe) single nucleotide variant Hyperekplexia 2 [RCV002170162] Chr4:157170692 [GRCh38]
Chr4:158091844 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.1198-16C>A single nucleotide variant Hyperekplexia 2 [RCV002124665] Chr4:157170416 [GRCh38]
Chr4:158091568 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.298-19G>A single nucleotide variant Hyperekplexia 2 [RCV002195062] Chr4:157136450 [GRCh38]
Chr4:158057602 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.951C>T (p.Ala317=) single nucleotide variant Hyperekplexia 2 [RCV002215331] Chr4:157152764 [GRCh38]
Chr4:158073916 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.904+13A>G single nucleotide variant Hyperekplexia 2 [RCV002095233] Chr4:157143972 [GRCh38]
Chr4:158065124 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.945C>T (p.Thr315=) single nucleotide variant Hyperekplexia 2 [RCV002094046] Chr4:157152758 [GRCh38]
Chr4:158073910 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.752-15G>A single nucleotide variant Hyperekplexia 2 [RCV002113521] Chr4:157143792 [GRCh38]
Chr4:158064944 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.816G>A (p.Gly272=) single nucleotide variant Hyperekplexia 2 [RCV002087243] Chr4:157143871 [GRCh38]
Chr4:158065023 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.1198-15A>T single nucleotide variant Hyperekplexia 2 [RCV002093924] Chr4:157170417 [GRCh38]
Chr4:158091569 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.527+12T>A single nucleotide variant Hyperekplexia 2 [RCV002150896] Chr4:157136710 [GRCh38]
Chr4:158057862 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.838A>G (p.Ile280Val) single nucleotide variant Hyperekplexia 2 [RCV002116912] Chr4:157143893 [GRCh38]
Chr4:158065045 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.1293A>G (p.Glu431=) single nucleotide variant Hyperekplexia 2 [RCV002096599] Chr4:157170527 [GRCh38]
Chr4:158091679 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.751+11T>C single nucleotide variant Hyperekplexia 2 [RCV002104267] Chr4:157138960 [GRCh38]
Chr4:158060112 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.45G>A (p.Leu15=) single nucleotide variant Hyperekplexia 2 [RCV002109332] Chr4:157078069 [GRCh38]
Chr4:157999221 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.144T>A (p.Leu48=) single nucleotide variant Hyperekplexia 2 [RCV002194706] Chr4:157120577 [GRCh38]
Chr4:158041729 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.298-19G>T single nucleotide variant Hyperekplexia 2 [RCV002205086] Chr4:157136450 [GRCh38]
Chr4:158057602 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.610+18T>A single nucleotide variant Hyperekplexia 2 [RCV002215291] Chr4:157136904 [GRCh38]
Chr4:158058056 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.298-20C>T single nucleotide variant Hyperekplexia 2 [RCV002151872] Chr4:157136449 [GRCh38]
Chr4:158057601 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.1386G>A (p.Ala462=) single nucleotide variant Hyperekplexia 2 [RCV002193200] Chr4:157170620 [GRCh38]
Chr4:158091772 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.648G>A (p.Gln216=) single nucleotide variant Hyperekplexia 2 [RCV002149600] Chr4:157138846 [GRCh38]
Chr4:158059998 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.1197+20A>G single nucleotide variant Hyperekplexia 2 [RCV002077841] Chr4:157153030 [GRCh38]
Chr4:158074182 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.846T>C (p.Val282=) single nucleotide variant Hyperekplexia 2 [RCV002196942] Chr4:157143901 [GRCh38]
Chr4:158065053 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.229+15T>C single nucleotide variant Hyperekplexia 2 [RCV002083087] Chr4:157120677 [GRCh38]
Chr4:158041829 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.882G>A (p.Ala294=) single nucleotide variant Hyperekplexia 2 [RCV002098344] Chr4:157143937 [GRCh38]
Chr4:158065089 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.627T>A (p.Asp209Glu) single nucleotide variant Hyperekplexia 2 [RCV002198360] Chr4:157138825 [GRCh38]
Chr4:158059977 [GRCh37]
Chr4:4q32.1
benign
NM_000824.5(GLRB):c.945C>A (p.Thr315=) single nucleotide variant Hyperekplexia 2 [RCV002200056] Chr4:157152758 [GRCh38]
Chr4:158073910 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.297+7T>C single nucleotide variant Hyperekplexia 2 [RCV002137795] Chr4:157122404 [GRCh38]
Chr4:158043556 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.905-15T>C single nucleotide variant Hyperekplexia 2 [RCV002141797] Chr4:157152703 [GRCh38]
Chr4:158073855 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.951C>G (p.Ala317=) single nucleotide variant Hyperekplexia 2 [RCV002155306] Chr4:157152764 [GRCh38]
Chr4:158073916 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.546A>C (p.Ser182=) single nucleotide variant Hyperekplexia 2 [RCV002144295] Chr4:157136822 [GRCh38]
Chr4:158057974 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.123-16_123-14del deletion Hyperekplexia 2 [RCV002121314] Chr4:157120538..157120540 [GRCh38]
Chr4:158041690..158041692 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.565T>C (p.Leu189=) single nucleotide variant Hyperekplexia 2 [RCV002204575] Chr4:157136841 [GRCh38]
Chr4:158057993 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.945C>G (p.Thr315=) single nucleotide variant Hyperekplexia 2 [RCV002217677] Chr4:157152758 [GRCh38]
Chr4:158073910 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.777C>A (p.Ile259=) single nucleotide variant Hyperekplexia 2 [RCV002083520] Chr4:157143832 [GRCh38]
Chr4:158064984 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.369G>A (p.Arg123=) single nucleotide variant Hyperekplexia 2 [RCV002181282] Chr4:157136540 [GRCh38]
Chr4:158057692 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.1290T>C (p.Phe430=) single nucleotide variant Hyperekplexia 2 [RCV002176047] Chr4:157170524 [GRCh38]
Chr4:158091676 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.298-13A>C single nucleotide variant Hyperekplexia 2 [RCV002184848] Chr4:157136456 [GRCh38]
Chr4:158057608 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.600A>G (p.Gln200=) single nucleotide variant Hyperekplexia 2 [RCV002200069] Chr4:157136876 [GRCh38]
Chr4:158058028 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.207C>G (p.Pro69=) single nucleotide variant Hyperekplexia 2 [RCV002135857] Chr4:157120640 [GRCh38]
Chr4:158041792 [GRCh37]
Chr4:4q32.1
likely benign
NM_000824.5(GLRB):c.405C>T (p.Tyr135=) single nucleotide variant Hyperekplexia 2 [RCV002144618] Chr4:157136576 [GRCh38]
Chr4:158057728 [GRCh37]
Chr4:4q32.1
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4329 AgrOrtholog
COSMIC GLRB COSMIC
Ensembl Genes ENSG00000109738 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000264428 ENTREZGENE
  ENSP00000264428.4 UniProtKB/Swiss-Prot
  ENSP00000421044.1 UniProtKB/TrEMBL
  ENSP00000422039.1 UniProtKB/TrEMBL
  ENSP00000425433.1 UniProtKB/TrEMBL
  ENSP00000427186 ENTREZGENE
  ENSP00000427186.1 UniProtKB/Swiss-Prot
  ENSP00000441873 ENTREZGENE
  ENSP00000441873.1 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000264428 ENTREZGENE
  ENST00000264428.9 UniProtKB/Swiss-Prot
  ENST00000506411.5 UniProtKB/TrEMBL
  ENST00000509282 ENTREZGENE
  ENST00000509282.1 UniProtKB/Swiss-Prot
  ENST00000512619.5 UniProtKB/TrEMBL
  ENST00000515642.5 UniProtKB/TrEMBL
  ENST00000541722 ENTREZGENE
  ENST00000541722.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.58.390 UniProtKB/Swiss-Prot
  2.70.170.10 UniProtKB/Swiss-Prot
GTEx ENSG00000109738 GTEx
HGNC ID HGNC:4329 ENTREZGENE
Human Proteome Map GLRB Human Proteome Map
InterPro Glycine_rcpt_B UniProtKB/Swiss-Prot
  Neur_chan_lig-bd UniProtKB/Swiss-Prot
  Neur_chan_lig-bd_sf UniProtKB/Swiss-Prot
  Neur_channel UniProtKB/Swiss-Prot
  Neuro-gated_channel_TM_sf UniProtKB/Swiss-Prot
  Neuro_actylchol_rec UniProtKB/Swiss-Prot
  Neurotrans-gated_channel_TM UniProtKB/Swiss-Prot
  Neurotransmitter_ion_chnl_CS UniProtKB/Swiss-Prot
KEGG Report hsa:2743 UniProtKB/Swiss-Prot
NCBI Gene 2743 ENTREZGENE
OMIM 138492 OMIM
  614619 OMIM
PANTHER PTHR18945 UniProtKB/Swiss-Prot
  PTHR18945:SF29 UniProtKB/Swiss-Prot
Pfam Neur_chan_LBD UniProtKB/Swiss-Prot
  Neur_chan_memb UniProtKB/Swiss-Prot
PharmGKB PA28730 PharmGKB
PRINTS GLYRBETA UniProtKB/Swiss-Prot
  NRIONCHANNEL UniProtKB/Swiss-Prot
PROSITE NEUROTR_ION_CHANNEL UniProtKB/Swiss-Prot
Superfamily-SCOP SSF63712 UniProtKB/Swiss-Prot
  SSF90112 UniProtKB/Swiss-Prot
TIGRFAMs LIC UniProtKB/Swiss-Prot
UniProt D6R9Y9_HUMAN UniProtKB/TrEMBL
  D6RD86_HUMAN UniProtKB/TrEMBL
  GLRB_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8K3K2 UniProtKB/Swiss-Prot
  D3DP23 UniProtKB/Swiss-Prot
  F5GWE1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 GLRB  glycine receptor beta  GLRB  glycine receptor, beta  Symbol and/or name change 5135510 APPROVED