GLRA2 (glycine receptor alpha 2) - Rat Genome Database

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Gene: GLRA2 (glycine receptor alpha 2) Homo sapiens
Analyze
Symbol: GLRA2
Name: glycine receptor alpha 2
RGD ID: 731909
HGNC Page HGNC
Description: Exhibits extracellularly glycine-gated chloride channel activity; glycine binding activity; and glycine-gated chloride ion channel activity. Is predicted to contribute to chloride channel activity. Involved in several processes, including cellular response to ethanol; cellular response to zinc ion; and chloride transmembrane transport. Localizes to integral component of plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: GLR; glycine receptor alpha 2 subunit; glycine receptor subunit alpha-2; glycine receptor, alpha 2; glycine receptor, alpha-2 polypeptide
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX14,529,298 - 14,731,812 (+)EnsemblGRCh38hg38GRCh38
GRCh38X14,529,298 - 14,731,812 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X14,547,420 - 14,749,934 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X14,457,571 - 14,659,855 (+)NCBINCBI36hg18NCBI36
Build 34X14,307,306 - 14,509,586NCBI
CeleraX18,662,786 - 18,865,313 (+)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX12,306,608 - 12,508,994 (+)NCBIHuRef
CHM1_1X14,577,845 - 14,780,315 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

Additional References at PubMed
PMID:2155780   PMID:8889549   PMID:8973915   PMID:9674912   PMID:11409700   PMID:12477932   PMID:15147510   PMID:15302677   PMID:15489334   PMID:16144831   PMID:16169070   PMID:16344560  
PMID:17207965   PMID:19086053   PMID:19874574   PMID:20237295   PMID:21873635   PMID:21988832   PMID:22606311   PMID:23895467   PMID:26186194   PMID:27382060   PMID:28514442  


Genomics

Comparative Map Data
GLRA2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX14,529,298 - 14,731,812 (+)EnsemblGRCh38hg38GRCh38
GRCh38X14,529,298 - 14,731,812 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X14,547,420 - 14,749,934 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X14,457,571 - 14,659,855 (+)NCBINCBI36hg18NCBI36
Build 34X14,307,306 - 14,509,586NCBI
CeleraX18,662,786 - 18,865,313 (+)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX12,306,608 - 12,508,994 (+)NCBIHuRef
CHM1_1X14,577,845 - 14,780,315 (+)NCBICHM1_1
Glra2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X163,912,013 - 164,110,863 (-)NCBIGRCm39mm39
GRCm39 EnsemblX163,912,013 - 164,110,389 (-)Ensembl
GRCm38X165,129,017 - 165,327,867 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX165,129,017 - 165,327,393 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X161,566,949 - 161,764,913 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X160,473,122 - 160,671,086 (-)NCBImm8
CeleraX148,324,415 - 148,521,647 (-)NCBICelera
Cytogenetic MapXF5NCBI
cM MapX76.75NCBI
Glra2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X29,020,377 - 29,241,666 (+)NCBI
Rnor_6.0 EnsemblX30,612,903 - 30,831,483 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X30,612,894 - 30,832,078 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X31,328,249 - 31,339,757 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X49,755,521 - 49,978,214 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX29,382,208 - 29,602,566 (+)NCBICelera
Cytogenetic MapXq14NCBI
Glra2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555193,492,305 - 3,682,087 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555193,492,313 - 3,682,028 (-)NCBIChiLan1.0ChiLan1.0
GLRA2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X14,431,100 - 14,634,974 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX14,430,441 - 14,634,973 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X7,145,794 - 7,349,911 (+)NCBIMhudiblu_PPA_v0panPan3
GLRA2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X10,859,699 - 11,033,386 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX10,860,476 - 11,033,287 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX10,767,973 - 10,941,335 (+)NCBI
ROS_Cfam_1.0X10,821,842 - 10,995,646 (+)NCBI
UMICH_Zoey_3.1X10,885,482 - 11,058,930 (+)NCBI
UNSW_CanFamBas_1.0X10,876,835 - 11,050,264 (+)NCBI
UU_Cfam_GSD_1.0X10,904,022 - 11,077,824 (+)NCBI
Glra2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X4,014,908 - 4,202,631 (+)NCBI
SpeTri2.0NW_0049364704,014,897 - 4,202,625 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GLRA2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX11,111,822 - 11,288,592 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X11,111,655 - 11,288,496 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X12,104,664 - 12,241,644 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GLRA2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X13,000,280 - 13,206,679 (+)NCBI
ChlSab1.1 EnsemblX13,001,160 - 13,205,987 (+)Ensembl
Glra2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624944512,482 - 704,805 (-)NCBI

Position Markers
AFM120xa9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X14,709,307 - 14,709,533UniSTSGRCh37
Build 36X14,619,228 - 14,619,454RGDNCBI36
CeleraX18,824,666 - 18,824,884RGD
Cytogenetic MapXp22.2UniSTS
TNG Radiation Hybrid MapX3554.0UniSTS
DXS987  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X14,709,303 - 14,709,562UniSTSGRCh37
CeleraX18,824,662 - 18,824,913UniSTS
Marshfield Genetic MapX22.18UniSTS
Marshfield Genetic MapX22.18RGD
Genethon Genetic MapX25.5UniSTS
deCODE Assembly MapX28.2UniSTS
Whitehead-YAC Contig MapX UniSTS
DXS7594  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X14,626,132 - 14,626,197UniSTSGRCh37
Build 36X14,536,053 - 14,536,118RGDNCBI36
CeleraX18,741,492 - 18,741,557RGD
Cytogenetic MapXp22.2UniSTS
HuRefX12,385,106 - 12,385,171UniSTS
RH71280  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X14,748,473 - 14,748,636UniSTSGRCh37
Build 36X14,658,394 - 14,658,557RGDNCBI36
CeleraX18,863,858 - 18,864,021RGD
Cytogenetic MapXp22.2UniSTS
HuRefX12,507,547 - 12,507,710UniSTS
GeneMap99-GB4 RH MapX89.4UniSTS
NCBI RH MapX10.0UniSTS
1410  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X14,653,764 - 14,653,840UniSTSGRCh37
Build 36X14,563,685 - 14,563,761RGDNCBI36
CeleraX18,769,123 - 18,769,199RGD
Cytogenetic MapXp22.2UniSTS
HuRefX12,412,959 - 12,413,035UniSTS
GeneMap99-GB4 RH MapX87.55UniSTS
NCBI RH MapX0.8UniSTS
GLYRA1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X14,547,834 - 14,548,194UniSTSGRCh37
Build 36X14,457,755 - 14,458,115RGDNCBI36
CeleraX18,663,200 - 18,663,560RGD
Cytogenetic MapXp22.2UniSTS
HuRefX12,307,022 - 12,307,382UniSTS
GDB:604017  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X14,748,447 - 14,748,593UniSTSGRCh37
Build 36X14,658,368 - 14,658,514RGDNCBI36
CeleraX18,863,832 - 18,863,978RGD
Cytogenetic MapXp22.2UniSTS
HuRefX12,507,521 - 12,507,667UniSTS
DXS7951  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X14,666,034 - 14,666,185UniSTSGRCh37
Build 36X14,575,955 - 14,576,106RGDNCBI36
CeleraX18,781,393 - 18,781,544RGD
Cytogenetic MapXp22.2UniSTS
HuRefX12,425,229 - 12,425,380UniSTS
RH121803  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X14,645,974 - 14,646,250UniSTSGRCh37
Build 36X14,555,895 - 14,556,171RGDNCBI36
CeleraX18,761,333 - 18,761,609RGD
Cytogenetic MapXp22.2UniSTS
HuRefX12,404,946 - 12,405,222UniSTS
TNG Radiation Hybrid MapX3576.0UniSTS
GLRA2_2389  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X14,749,258 - 14,749,895UniSTSGRCh37
Build 36X14,659,179 - 14,659,816RGDNCBI36
CeleraX18,864,637 - 18,865,274RGD
HuRefX12,508,318 - 12,508,955UniSTS
AF026404  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X14,666,010 - 14,666,069UniSTSGRCh37
Build 36X14,575,931 - 14,575,990RGDNCBI36
CeleraX18,781,369 - 18,781,428RGD
Cytogenetic MapXp22.2UniSTS
HuRefX12,425,205 - 12,425,264UniSTS
DXS7091  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X14,546,065 - 14,546,220UniSTSGRCh37
Build 36X14,455,986 - 14,456,141RGDNCBI36
CeleraX18,661,431 - 18,661,586RGD
Cytogenetic MapXp22.2UniSTS
HuRefX12,305,253 - 12,305,408UniSTS
Whitehead-YAC Contig MapX UniSTS
GLRA2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X14,547,952 - 14,548,246UniSTSGRCh37
CeleraX18,663,318 - 18,663,612UniSTS
HuRefX12,307,140 - 12,307,434UniSTS
DXS987  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp22.2UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2176
Count of miRNA genes:792
Interacting mature miRNAs:901
Transcripts:ENST00000218075, ENST00000355020, ENST00000415367, ENST00000443437
Prediction methods:Miranda, Pita, Pita,Targetscan, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 4 2 441 1 2
Low 147 1 118 1 11 1 87 3 1928 13 59 19 2 1 1 59 1
Below cutoff 1665 1005 621 149 696 81 2060 920 1270 198 916 709 71 475 1325 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001118885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001118886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001171942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA081959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC003658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC003683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH004873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY437083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY437084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC045547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR450343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA495302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X52008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000218075   ⟹   ENSP00000218075
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX14,529,536 - 14,731,812 (+)Ensembl
RefSeq Acc Id: ENST00000355020   ⟹   ENSP00000347123
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX14,529,772 - 14,730,570 (+)Ensembl
RefSeq Acc Id: ENST00000415367   ⟹   ENSP00000391606
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX14,531,146 - 14,607,247 (+)Ensembl
RefSeq Acc Id: ENST00000443437   ⟹   ENSP00000387756
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX14,529,298 - 14,731,809 (+)Ensembl
RefSeq Acc Id: NM_001118885   ⟹   NP_001112357
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X14,529,298 - 14,731,812 (+)NCBI
GRCh37X14,547,420 - 14,749,934 (+)ENTREZGENE
HuRefX12,306,608 - 12,508,994 (+)ENTREZGENE
CHM1_1X14,577,845 - 14,780,315 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001118886   ⟹   NP_001112358
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X14,529,536 - 14,731,812 (+)NCBI
GRCh37X14,547,420 - 14,749,934 (+)ENTREZGENE
HuRefX12,306,608 - 12,508,994 (+)ENTREZGENE
CHM1_1X14,577,845 - 14,780,315 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001171942   ⟹   NP_001165413
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X14,529,298 - 14,731,812 (+)NCBI
GRCh37X14,547,420 - 14,749,934 (+)ENTREZGENE
HuRefX12,306,608 - 12,508,994 (+)ENTREZGENE
CHM1_1X14,577,845 - 14,780,315 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002063   ⟹   NP_002054
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X14,529,536 - 14,731,812 (+)NCBI
GRCh37X14,547,420 - 14,749,934 (+)ENTREZGENE
Build 36X14,457,571 - 14,659,855 (+)NCBI Archive
HuRefX12,306,608 - 12,508,994 (+)ENTREZGENE
CHM1_1X14,577,845 - 14,780,315 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724487   ⟹   XP_006724550
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X14,530,053 - 14,730,950 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545496   ⟹   XP_011543798
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X14,529,310 - 14,730,950 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029427   ⟹   XP_016884916
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X14,529,326 - 14,730,577 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029428   ⟹   XP_016884917
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X14,529,532 - 14,730,577 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029429   ⟹   XP_016884918
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X14,529,532 - 14,730,577 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452365   ⟹   XP_024308133
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X14,529,523 - 14,730,950 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452366   ⟹   XP_024308134
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X14,529,383 - 14,730,577 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001112357 (Get FASTA)   NCBI Sequence Viewer  
  NP_001112358 (Get FASTA)   NCBI Sequence Viewer  
  NP_001165413 (Get FASTA)   NCBI Sequence Viewer  
  NP_002054 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724550 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543798 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884916 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884917 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884918 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308133 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308134 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB38272 (Get FASTA)   NCBI Sequence Viewer  
  AAB38273 (Get FASTA)   NCBI Sequence Viewer  
  AAC35290 (Get FASTA)   NCBI Sequence Viewer  
  AAH32864 (Get FASTA)   NCBI Sequence Viewer  
  AAR87842 (Get FASTA)   NCBI Sequence Viewer  
  AAR87843 (Get FASTA)   NCBI Sequence Viewer  
  BAF82250 (Get FASTA)   NCBI Sequence Viewer  
  BAG35485 (Get FASTA)   NCBI Sequence Viewer  
  BAH12535 (Get FASTA)   NCBI Sequence Viewer  
  BAH12541 (Get FASTA)   NCBI Sequence Viewer  
  CAA36257 (Get FASTA)   NCBI Sequence Viewer  
  CAG29339 (Get FASTA)   NCBI Sequence Viewer  
  EAW98858 (Get FASTA)   NCBI Sequence Viewer  
  EAW98859 (Get FASTA)   NCBI Sequence Viewer  
  EAW98860 (Get FASTA)   NCBI Sequence Viewer  
  P23416 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_002054   ⟸   NM_002063
- Peptide Label: isoform A precursor
- UniProtKB: P23416 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001112358   ⟸   NM_001118886
- Peptide Label: isoform B precursor
- UniProtKB: P23416 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001165413   ⟸   NM_001171942
- Peptide Label: isoform C
- UniProtKB: P23416 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001112357   ⟸   NM_001118885
- Peptide Label: isoform A precursor
- UniProtKB: P23416 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006724550   ⟸   XM_006724487
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011543798   ⟸   XM_011545496
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016884916   ⟸   XM_017029427
- Peptide Label: isoform X1
- UniProtKB: P23416 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884918   ⟸   XM_017029429
- Peptide Label: isoform X3
- UniProtKB: P23416 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884917   ⟸   XM_017029428
- Peptide Label: isoform X3
- UniProtKB: P23416 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024308134   ⟸   XM_024452366
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024308133   ⟸   XM_024452365
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000218075   ⟸   ENST00000218075
RefSeq Acc Id: ENSP00000391606   ⟸   ENST00000415367
RefSeq Acc Id: ENSP00000387756   ⟸   ENST00000443437
RefSeq Acc Id: ENSP00000347123   ⟸   ENST00000355020
Protein Domains
Neur_chan_LBD

Promoters
RGD ID:13604776
Promoter ID:EPDNEW_H28572
Type:initiation region
Name:GLRA2_1
Description:glycine receptor alpha 2
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
GRCh38X14,529,536 - 14,529,596EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_002063.3(GLRA2):c.494+3831G>A single nucleotide variant Lung cancer [RCV000102426] ChrX:14585237 [GRCh38]
ChrX:14603359 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9038047-16646589)x2 copy number gain See cases [RCV000052362] ChrX:9038047..16646589 [GRCh38]
ChrX:9006088..16664712 [GRCh37]
ChrX:8966088..16574633 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10679-21811030)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] ChrX:10679..21811030 [GRCh38]
ChrX:60679..21829148 [GRCh37]
ChrX:679..21739069 [NCBI36]
ChrX:Xp22.33-22.12
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:2936461-17287323)x2 copy number gain See cases [RCV000135895] ChrX:2936461..17287323 [GRCh38]
ChrX:2854502..17305446 [GRCh37]
ChrX:2864502..17215367 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-16187419)x1 copy number loss See cases [RCV000137252] ChrX:10679..16187419 [GRCh38]
ChrX:60679..16205542 [GRCh37]
ChrX:679..16115463 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3 copy number gain See cases [RCV000137383] ChrX:10701..21866242 [GRCh38]
ChrX:60701..21884360 [GRCh37]
ChrX:701..21794281 [NCBI36]
ChrX:Xp22.33-22.12
uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.2-21.2(chrX:12254555-30410580)x1 copy number loss See cases [RCV000138069] ChrX:12254555..30410580 [GRCh38]
ChrX:12272674..30428697 [GRCh37]
ChrX:12182595..30338618 [NCBI36]
ChrX:Xp22.2-21.2
pathogenic|likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9239101-16721153)x1 copy number loss See cases [RCV000137753] ChrX:9239101..16721153 [GRCh38]
ChrX:9207141..16739276 [GRCh37]
ChrX:9167141..16649197 [NCBI36]
ChrX:Xp22.31-22.2
uncertain significance
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:251879-16967290)x1 copy number loss See cases [RCV000142053] ChrX:251879..16967290 [GRCh38]
ChrX:168546..16985413 [GRCh37]
ChrX:108546..16895334 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.2-22.12(chrX:12856740-19380317)x2 copy number gain See cases [RCV000143774] ChrX:12856740..19380317 [GRCh38]
ChrX:12874859..19398435 [GRCh37]
ChrX:12784780..19308356 [NCBI36]
ChrX:Xp22.2-22.12
likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.2(chrX:13911950-14708620)x2 copy number gain See cases [RCV000207441] ChrX:13911950..14708620 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_002063.4(GLRA2):c.202+4G>T single nucleotide variant not provided [RCV000584920] ChrX:14532376 [GRCh38]
ChrX:14550498 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2(chrX:14597341-15101123)x3 copy number gain See cases [RCV000445927] ChrX:14597341..15101123 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3 copy number gain not provided [RCV000684187] ChrX:201704..20682168 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:168546-16404364)x1 copy number loss not provided [RCV000684181] ChrX:168546..16404364 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-18601364)x1 copy number loss not provided [RCV000684182] ChrX:168546..18601364 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1 copy number loss not provided [RCV000684183] ChrX:168546..23785738 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2 copy number gain not provided [RCV001007235] ChrX:1240318..20986848 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392) copy number gain not provided [RCV000767802] ChrX:801301..23768392 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_002063.4(GLRA2):c.494+3_494+6dup duplication not provided [RCV000999325] ChrX:14581408..14581409 [GRCh38]
ChrX:14599530..14599531 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849766] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849768] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
NM_002063.4(GLRA2):c.887C>T (p.Thr296Met) single nucleotide variant not provided [RCV000999327] ChrX:14609162 [GRCh38]
ChrX:14627284 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 copy number gain not provided [RCV000849574] ChrX:2190434..23795839 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
NM_002063.4(GLRA2):c.1089C>T (p.Asp363=) single nucleotide variant not provided [RCV000961787] ChrX:14730215 [GRCh38]
ChrX:14748337 [GRCh37]
ChrX:Xp22.2
benign
NM_002063.4(GLRA2):c.494+5G>A single nucleotide variant not provided [RCV000999326] ChrX:14581411 [GRCh38]
ChrX:14599533 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-17502124)x1 copy number loss not provided [RCV001007200] ChrX:168546..17502124 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.2(chrX:10478359-15357092)x3 copy number gain not provided [RCV001259461] ChrX:10478359..15357092 [GRCh37]
ChrX:Xp22.2
likely pathogenic
GRCh37/hg19 Xp22.2(chrX:14718204-15192555)x3 copy number gain not provided [RCV001259460] ChrX:14718204..15192555 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4327 AgrOrtholog
COSMIC GLRA2 COSMIC
Ensembl Genes ENSG00000101958 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000218075 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000347123 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000387756 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000391606 UniProtKB/TrEMBL
Ensembl Transcript ENST00000218075 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000355020 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000415367 UniProtKB/TrEMBL
  ENST00000443437 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.70.170.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000101958 GTEx
HGNC ID HGNC:4327 ENTREZGENE
Human Proteome Map GLRA2 Human Proteome Map
InterPro GABAA/Glycine_rcpt UniProtKB/Swiss-Prot
  Glycine_rcpt_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glycine_rcpt_A2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neur_chan_lig-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neur_chan_lig-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neur_channel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neuro-gated_channel_TM_sf UniProtKB/Swiss-Prot
  Neurotrans-gated_channel_TM UniProtKB/Swiss-Prot
  Neurotransmitter_ion_chnl_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2742 UniProtKB/Swiss-Prot
NCBI Gene 2742 ENTREZGENE
OMIM 305990 OMIM
PANTHER PTHR18945 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR18945:SF28 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Neur_chan_LBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neur_chan_memb UniProtKB/Swiss-Prot
PharmGKB PA28728 PharmGKB
PRINTS GABAARECEPTR UniProtKB/Swiss-Prot
  GLYRALPHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLYRALPHA2 UniProtKB/Swiss-Prot
  NRIONCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE NEUROTR_ION_CHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF63712 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF90112 UniProtKB/Swiss-Prot
TIGRFAMs LIC UniProtKB/Swiss-Prot
UniProt C9JBL4_HUMAN UniProtKB/TrEMBL
  GLRA2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8K0J6 UniProtKB/Swiss-Prot
  B2R6I8 UniProtKB/Swiss-Prot
  B7Z4F5 UniProtKB/Swiss-Prot
  J3KQ59 UniProtKB/Swiss-Prot
  Q53YX7 UniProtKB/Swiss-Prot
  Q6ICQ0 UniProtKB/Swiss-Prot
  Q99862 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 GLRA2  glycine receptor alpha 2    glycine receptor, alpha 2  Symbol and/or name change 5135510 APPROVED