ATP2B3 (ATPase plasma membrane Ca2+ transporting 3) - Rat Genome Database

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Gene: ATP2B3 (ATPase plasma membrane Ca2+ transporting 3) Homo sapiens
Analyze
Symbol: ATP2B3
Name: ATPase plasma membrane Ca2+ transporting 3
RGD ID: 731628
HGNC Page HGNC
Description: Exhibits calcium-transporting ATPase activity involved in regulation of presynaptic cytosolic calcium ion concentration. Involved in calcium ion export across plasma membrane and regulation of cytosolic calcium ion concentration. Localizes to GABA-ergic synapse; glutamatergic synapse; and plasma membrane. Implicated in X-linked spinocerebellar ataxia 1.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ATPase, Ca++ transporting, plasma membrane 3; cerebellar ataxia 2 (X-linked); CFAP39; cilia and flagella associated protein 39; CLA2; OPCA; plasma membrane calcium ATPase; plasma membrane calcium pump; plasma membrane calcium-transporting ATPase 3; PMCA3; PMCA3a; SCAX1
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 EnsemblX153,517,676 - 153,582,939 (+)EnsemblGRCh38hg38GRCh38
GRCh38X153,517,642 - 153,582,929 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X152,801,580 - 152,848,387 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X152,454,774 - 152,501,581 (+)NCBINCBI36hg18NCBI36
Build 34X152,322,426 - 152,369,234NCBI
CeleraX153,035,263 - 153,082,068 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX141,460,036 - 141,506,946 (+)NCBIHuRef
CHM1_1X152,676,076 - 152,722,878 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1531651   PMID:7989379   PMID:8187550   PMID:8245032   PMID:8634322   PMID:8687195   PMID:8765088   PMID:8889548   PMID:10854409   PMID:11152753   PMID:12477932   PMID:12784250  
PMID:14702039   PMID:15071553   PMID:15101689   PMID:17336174   PMID:18029012   PMID:18029348   PMID:19733838   PMID:20301317   PMID:20811636   PMID:21873635   PMID:22912398   PMID:23416519  
PMID:24082052   PMID:24179102   PMID:24244333   PMID:24639526   PMID:24769233   PMID:25609649   PMID:25953895   PMID:26186194   PMID:26285814   PMID:26344197   PMID:26351028   PMID:26389662  
PMID:27035656   PMID:27632770   PMID:28298427   PMID:28514442   PMID:28712724   PMID:28807751   PMID:30021884   PMID:30948266   PMID:31586073  


Genomics

Comparative Map Data
ATP2B3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX153,517,676 - 153,582,939 (+)EnsemblGRCh38hg38GRCh38
GRCh38X153,517,642 - 153,582,929 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X152,801,580 - 152,848,387 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X152,454,774 - 152,501,581 (+)NCBINCBI36hg18NCBI36
Build 34X152,322,426 - 152,369,234NCBI
CeleraX153,035,263 - 153,082,068 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX141,460,036 - 141,506,946 (+)NCBIHuRef
CHM1_1X152,676,076 - 152,722,878 (+)NCBICHM1_1
Atp2b3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X72,546,356 - 72,632,267 (+)NCBIGRCm39mm39
GRCm39 EnsemblX72,546,692 - 72,614,611 (+)Ensembl
GRCm38X73,502,749 - 73,573,275 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX73,503,086 - 73,571,005 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X70,748,425 - 70,816,344 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X69,755,806 - 69,823,725 (+)NCBImm8
CeleraX64,756,927 - 64,824,859 (+)NCBICelera
Cytogenetic MapXA7.3NCBI
Atp2b3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X151,216,483 - 151,289,069 (+)NCBI
Rnor_6.0 EnsemblX157,239,306 - 157,312,028 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X157,236,400 - 157,312,028 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01152,988,825 - 153,056,732 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X159,400,374 - 159,470,665 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X159,473,827 - 159,544,098 (+)NCBI
Celera1136,605,191 - 136,673,058 (-)NCBICelera
Cytogenetic MapXq37NCBI
Atp2b3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955580269,100 - 333,471 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955580286,092 - 332,657 (+)NCBIChiLan1.0ChiLan1.0
ATP2B3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X152,955,106 - 153,019,445 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX152,955,109 - 153,019,445 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X143,068,171 - 143,133,479 (+)NCBIMhudiblu_PPA_v0panPan3
ATP2B3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X121,355,217 - 121,405,245 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX121,361,239 - 121,403,609 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX106,673,819 - 106,733,766 (+)NCBI
ROS_Cfam_1.0X124,485,607 - 124,545,662 (+)NCBI
UMICH_Zoey_3.1X120,255,434 - 120,315,368 (+)NCBI
UNSW_CanFamBas_1.0X122,770,529 - 122,830,395 (+)NCBI
UU_Cfam_GSD_1.0X122,532,564 - 122,592,473 (+)NCBI
Atp2b3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X118,659,196 - 118,728,749 (+)NCBI
SpeTri2.0NW_004936809396,883 - 466,372 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ATP2B3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX124,301,709 - 124,357,642 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X124,318,874 - 124,357,653 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X141,865,126 - 141,921,057 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ATP2B3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X127,966,366 - 128,013,900 (+)NCBI
ChlSab1.1 EnsemblX127,966,492 - 128,013,901 (+)Ensembl
Atp2b3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624946247,032 - 307,645 (+)NCBI

Position Markers
DXS7001E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X152,848,118 - 152,848,217UniSTSGRCh37
Build 36X152,501,312 - 152,501,411RGDNCBI36
CeleraX153,081,799 - 153,081,898RGD
Cytogenetic MapXq28UniSTS
HuRefX141,506,677 - 141,506,776UniSTS
GeneMap99-GB4 RH MapX350.52UniSTS
RH80841  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X152,845,804 - 152,846,023UniSTSGRCh37
Build 36X152,498,998 - 152,499,217RGDNCBI36
CeleraX153,079,484 - 153,079,703RGD
Cytogenetic MapXq28UniSTS
HuRefX141,504,361 - 141,504,580UniSTS
GeneMap99-GB4 RH MapX356.42UniSTS
WI-15046  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X152,833,501 - 152,833,650UniSTSGRCh37
Build 36X152,486,695 - 152,486,844RGDNCBI36
CeleraX153,067,183 - 153,067,332RGD
Cytogenetic MapXq28UniSTS
HuRefX141,491,837 - 141,491,986UniSTS
GeneMap99-GB4 RH MapX350.52UniSTS
Whitehead-RH MapX314.8UniSTS
A006S03  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X152,846,695 - 152,846,807UniSTSGRCh37
Build 36X152,499,889 - 152,500,001RGDNCBI36
CeleraX153,080,376 - 153,080,488RGD
Cytogenetic MapXq28UniSTS
HuRefX141,505,254 - 141,505,366UniSTS
GeneMap99-GB4 RH MapX350.52UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:8160
Count of miRNA genes:1391
Interacting mature miRNAs:1826
Transcripts:ENST00000263519, ENST00000349466, ENST00000359149, ENST00000370181, ENST00000370186, ENST00000393842, ENST00000460549, ENST00000496610
Prediction methods:Microtar, 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 89 2 6 1302 1 10 33
Low 401 528 443 2 28 2 250 99 1586 27 169 37 2 4 242 1
Below cutoff 1831 2223 853 382 1110 224 3843 1934 797 177 1122 1233 158 1 1159 2421 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_015896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001001344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001388360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001388361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001388362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF274858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG739902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM680649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM695792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM805938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM986989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ878721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU183973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU790224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU790521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ201779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U15689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U15690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U57971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U60414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U82695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000263519   ⟹   ENSP00000263519
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,536,122 - 153,582,929 (+)Ensembl
RefSeq Acc Id: ENST00000349466   ⟹   ENSP00000343886
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,517,676 - 153,580,589 (+)Ensembl
RefSeq Acc Id: ENST00000359149   ⟹   ENSP00000352062
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,536,122 - 153,580,589 (+)Ensembl
RefSeq Acc Id: ENST00000370186   ⟹   ENSP00000359205
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,517,676 - 153,582,939 (+)Ensembl
RefSeq Acc Id: ENST00000393842   ⟹   ENSP00000377425
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,532,934 - 153,569,962 (+)Ensembl
RefSeq Acc Id: ENST00000460549
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,556,946 - 153,560,824 (+)Ensembl
RefSeq Acc Id: ENST00000496610
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,569,648 - 153,580,569 (+)Ensembl
RefSeq Acc Id: NM_001001344   ⟹   NP_001001344
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,517,642 - 153,582,929 (+)NCBI
GRCh37X152,783,905 - 152,848,387 (+)NCBI
Build 36X152,454,774 - 152,501,581 (+)NCBI Archive
HuRefX141,460,036 - 141,506,946 (+)ENTREZGENE
CHM1_1X152,676,076 - 152,722,878 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001388360   ⟹   NP_001375289
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,517,642 - 153,582,929 (+)NCBI
RefSeq Acc Id: NM_001388361   ⟹   NP_001375290
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,517,642 - 153,582,929 (+)NCBI
RefSeq Acc Id: NM_001388362   ⟹   NP_001375291
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,517,642 - 153,568,201 (+)NCBI
RefSeq Acc Id: NM_021949   ⟹   NP_068768
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,517,642 - 153,582,929 (+)NCBI
GRCh37X152,783,905 - 152,848,387 (+)NCBI
Build 36X152,454,774 - 152,501,581 (+)NCBI Archive
HuRefX141,460,036 - 141,506,946 (+)ENTREZGENE
CHM1_1X152,676,076 - 152,722,878 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274689   ⟹   XP_005274746
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,517,678 - 153,582,929 (+)NCBI
GRCh37X152,783,905 - 152,848,387 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274691   ⟹   XP_005274748
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,517,678 - 153,582,929 (+)NCBI
GRCh37X152,783,905 - 152,848,387 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531177   ⟹   XP_011529479
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,517,677 - 153,568,176 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029553   ⟹   XP_016885042
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,535,001 - 153,568,176 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452386   ⟹   XP_024308154
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,517,678 - 153,582,929 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001755693
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,517,731 - 153,582,929 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_068768   ⟸   NM_021949
- Peptide Label: isoform 3a
- UniProtKB: Q16720 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001001344   ⟸   NM_001001344
- Peptide Label: isoform 3b
- UniProtKB: Q16720 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005274746   ⟸   XM_005274689
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_005274748   ⟸   XM_005274691
- Peptide Label: isoform X6
- UniProtKB: Q16720 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529479   ⟸   XM_011531177
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016885042   ⟸   XM_017029553
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024308154   ⟸   XM_024452386
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: ENSP00000352062   ⟸   ENST00000359149
RefSeq Acc Id: ENSP00000359205   ⟸   ENST00000370186
RefSeq Acc Id: ENSP00000343886   ⟸   ENST00000349466
RefSeq Acc Id: ENSP00000377425   ⟸   ENST00000393842
RefSeq Acc Id: ENSP00000263519   ⟸   ENST00000263519
RefSeq Acc Id: NP_001375289   ⟸   NM_001388360
- Peptide Label: isoform 3a
RefSeq Acc Id: NP_001375290   ⟸   NM_001388361
- Peptide Label: isoform 3b
RefSeq Acc Id: NP_001375291   ⟸   NM_001388362
- Peptide Label: isoform 4
Protein Domains
ATP_Ca_trans_C   Cation_ATPase_N

Promoters
RGD ID:6808518
Promoter ID:HG_KWN:68532
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:UC010NUF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,478,591 - 152,479,091 (+)MPROMDB
RGD ID:6808517
Promoter ID:HG_KWN:68533
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:UC004FHU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,479,891 - 152,480,391 (+)MPROMDB
RGD ID:6808516
Promoter ID:HG_KWN:68534
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:OTTHUMT00000060960
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,488,211 - 152,488,711 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001001344.2(ATP2B3):c.2269C>T (p.Pro757Ser) single nucleotide variant not provided [RCV000523289] ChrX:153556361 [GRCh38]
ChrX:152821819 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001001344.2(ATP2B3):c.3320G>A (p.Gly1107Asp) single nucleotide variant Spinocerebellar ataxia, X-linked 1 [RCV000033061]|not provided [RCV000487170] ChrX:153565081 [GRCh38]
ChrX:152830539 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
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
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 Xq28(chrX:150036146-156022206)x3 copy number gain See cases [RCV000050946] ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28
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 Xq28(chrX:149989929-156022206)x3 copy number gain See cases [RCV000050657] ChrX:149989929..156022206 [GRCh38]
ChrX:149158160..155251871 [GRCh37]
ChrX:148908818..154905065 [NCBI36]
ChrX:Xq28
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 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153296806-155699618)x1 copy number loss See cases [RCV000051750] ChrX:153296806..155699618 [GRCh38]
ChrX:152568327..154929279 [GRCh37]
ChrX:152215458..154582473 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28
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 Xp22.33-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 Xq28(chrX:152932818-156022206)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] ChrX:152932818..156022206 [GRCh38]
ChrX:152173071..155251871 [GRCh37]
ChrX:151852018..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 copy number gain See cases [RCV000052491] ChrX:153395425..155687381 [GRCh38]
ChrX:152314077..154570236 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153504314-154144797)x2 copy number gain See cases [RCV000052492] ChrX:153504314..154144797 [GRCh38]
ChrX:152422966..153063464 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 copy number gain See cases [RCV000052474] ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28
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-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-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
NM_001001344.2(ATP2B3):c.667G>A (p.Asp223Asn) single nucleotide variant Malignant melanoma [RCV000073122] ChrX:153542325 [GRCh38]
ChrX:152807783 [GRCh37]
ChrX:152460977 [NCBI36]
ChrX:Xq28
not provided
NM_001001344.2(ATP2B3):c.3514C>T (p.Arg1172Trp) single nucleotide variant Malignant melanoma [RCV000073123] ChrX:153580149 [GRCh38]
ChrX:152845607 [GRCh37]
ChrX:152498801 [NCBI36]
ChrX:Xq28
not provided
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
NM_001001344.2(ATP2B3):c.2434-3C>A single nucleotide variant not specified [RCV000171447] ChrX:153558109 [GRCh38]
ChrX:152823567 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28
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-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: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-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 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
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 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
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 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
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 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153296806-154604471)x2 copy number gain See cases [RCV000135451] ChrX:153296806..154604471 [GRCh38]
ChrX:152568327..153832724 [GRCh37]
ChrX:152215458..153485918 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
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 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
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 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
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 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
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 Xq28(chrX:153322656-155522304)x2 copy number gain See cases [RCV000136716] ChrX:153322656..155522304 [GRCh38]
ChrX:152864376..154751965 [GRCh37]
ChrX:152241308..154405159 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:151750863-155522304)x1 copy number loss See cases [RCV000136718] ChrX:151750863..155522304 [GRCh38]
ChrX:150919335..154751965 [GRCh37]
ChrX:150669991..154405159 [NCBI36]
ChrX:Xq28
pathogenic
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 Xq28(chrX:153276277-156003242)x3 copy number gain See cases [RCV000137498] ChrX:153276277..156003242 [GRCh38]
ChrX:152465185..155232907 [GRCh37]
ChrX:152118379..154886101 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28
pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
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 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
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 Xq28(chrX:153451351-154230630)x2 copy number gain See cases [RCV000140532] ChrX:153451351..154230630 [GRCh38]
ChrX:152716809..153496099 [GRCh37]
ChrX:152370003..153149293 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28
pathogenic
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 Xq28(chrX:153539888-153560274)x1 copy number loss See cases [RCV000141302] ChrX:153539888..153560274 [GRCh38]
ChrX:152805346..152825732 [GRCh37]
ChrX:152458540..152478926 [NCBI36]
ChrX:Xq28
uncertain significance
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-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 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq28(chrX:153392250-153934599)x3 copy number gain See cases [RCV000142157] ChrX:153392250..153934599 [GRCh38]
ChrX:152657708..153200052 [GRCh37]
ChrX:152310902..152853246 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 copy number gain See cases [RCV000143002] ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
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 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-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 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
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
NM_021949.3(ATP2B3):c.1272_1277del (p.Leu425_Val426del) deletion Aldosterone-producing adrenal cortex adenoma [RCV000149852] ChrX:153548786..153548791 [GRCh38]
ChrX:152814244..152814249 [GRCh37]
ChrX:Xq28
pathogenic
NM_021949.3(ATP2B3):c.1273_1278del (p.Leu425_Val426del) deletion Aldosterone-producing adrenal cortex adenoma [RCV000149854] ChrX:153548789..153548794 [GRCh38]
ChrX:152814247..152814252 [GRCh37]
ChrX:Xq28
pathogenic
NM_021949.3(ATP2B3):c.1277_1282del (p.Val426_Val427del) deletion Aldosterone-producing adrenal cortex adenoma [RCV000149855] ChrX:153548790..153548795 [GRCh38]
ChrX:152814248..152814253 [GRCh37]
ChrX:Xq28
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 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
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-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
NM_001001344.2(ATP2B3):c.3160-2A>G single nucleotide variant not provided [RCV000519719] ChrX:153564919 [GRCh38]
ChrX:152830377 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001001344.2(ATP2B3):c.3338C>T (p.Thr1113Met) single nucleotide variant Inborn genetic diseases [RCV000210622] ChrX:153565099 [GRCh38]
ChrX:152830557 [GRCh37]
ChrX:Xq28
likely 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:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [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
NM_001001344.2(ATP2B3):c.1264G>C (p.Val422Leu) single nucleotide variant not provided [RCV000519105] ChrX:153548780 [GRCh38]
ChrX:152814238 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001001344.2(ATP2B3):c.3518C>T (p.Ala1173Val) single nucleotide variant Spinocerebellar ataxia, X-linked 1 [RCV000610922]|not provided [RCV000973065] ChrX:153580153 [GRCh38]
ChrX:152845611 [GRCh37]
ChrX:Xq28
benign|likely benign
GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
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 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
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:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [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
NM_021949.3(ATP2B3):c.2592G>C (p.Val864=) single nucleotide variant Spinocerebellar ataxia, X-linked 1 [RCV000612702] ChrX:153558270 [GRCh38]
ChrX:152823728 [GRCh37]
ChrX:Xq28
benign
NM_021949.3(ATP2B3):c.1750A>G (p.Ser584Gly) single nucleotide variant not provided [RCV000584941] ChrX:153550213 [GRCh38]
ChrX:152815671 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001001344.2(ATP2B3):c.209-10C>T single nucleotide variant not specified [RCV000600892] ChrX:153541349 [GRCh38]
ChrX:152806807 [GRCh37]
ChrX:Xq28
likely benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
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 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
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:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [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 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:152228560-154930047)x2 copy number gain See cases [RCV000447331] ChrX:152228560..154930047 [GRCh37]
ChrX:Xq28
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:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:150253008-155233731)x1 copy number loss See cases [RCV000446761] ChrX:150253008..155233731 [GRCh37]
ChrX:Xq28
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:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001001344.2(ATP2B3):c.2414C>T (p.Ala805Val) single nucleotide variant not provided [RCV000420729] ChrX:153557004 [GRCh38]
ChrX:152822462 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001001344.2(ATP2B3):c.3313T>A (p.Phe1105Ile) single nucleotide variant Spinocerebellar ataxia, X-linked 1 [RCV000679933] ChrX:153565074 [GRCh38]
ChrX:152830532 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001001344.2(ATP2B3):c.3468C>G (p.Ile1156Met) single nucleotide variant not provided [RCV000424604] ChrX:153580103 [GRCh38]
ChrX:152845561 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001001344.2(ATP2B3):c.193A>G (p.Thr65Ala) single nucleotide variant not provided [RCV000431839] ChrX:153536440 [GRCh38]
ChrX:152801898 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001001344.2(ATP2B3):c.3533C>A (p.Ser1178Tyr) single nucleotide variant not provided [RCV000431881] ChrX:153580168 [GRCh38]
ChrX:152845626 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001001344.2(ATP2B3):c.2315C>T (p.Thr772Ile) single nucleotide variant not provided [RCV000428917] ChrX:153556407 [GRCh38]
ChrX:152821865 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001001344.2(ATP2B3):c.3342+4563T>C single nucleotide variant not provided [RCV000432253] ChrX:153569666 [GRCh38]
ChrX:152835124 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_001001344.2(ATP2B3):c.1198C>G (p.Arg400Gly) single nucleotide variant not provided [RCV000422370] ChrX:153548714 [GRCh38]
ChrX:152814172 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001001344.2(ATP2B3):c.2440G>A (p.Ala814Thr) single nucleotide variant not provided [RCV000432860] ChrX:153558118 [GRCh38]
ChrX:152823576 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001001344.2(ATP2B3):c.2029G>A (p.Val677Met) single nucleotide variant not provided [RCV000440045] ChrX:153553240 [GRCh38]
ChrX:152818698 [GRCh37]
ChrX:Xq28
uncertain significance
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 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
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-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
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 Xq28(chrX:151201777-154741703)x2 copy number gain See cases [RCV000510478] ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28
pathogenic
NM_001001344.2(ATP2B3):c.2412G>C (p.Lys804Asn) single nucleotide variant not provided [RCV000493460] ChrX:153557002 [GRCh38]
ChrX:152822460 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001001344.2(ATP2B3):c.3594G>T (p.Lys1198Asn) single nucleotide variant Global developmental delay [RCV000491103]|Spinocerebellar ataxia, X-linked 1 [RCV001329442] ChrX:153580229 [GRCh38]
ChrX:152845687 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001001344.2(ATP2B3):c.244A>G (p.Arg82Gly) single nucleotide variant not provided [RCV000494614] ChrX:153541394 [GRCh38]
ChrX:152806852 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 copy number loss See cases [RCV000511228] ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:152559822-153104847)x3 copy number gain See cases [RCV000511269] ChrX:152559822..153104847 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:151963528-155233731)x1 copy number loss See cases [RCV000510866] ChrX:151963528..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 copy number loss See cases [RCV000510920] ChrX:151311551..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_021949.3(ATP2B3):c.*258C>A single nucleotide variant not provided [RCV000597253] ChrX:153580261 [GRCh38]
ChrX:152845719 [GRCh37]
ChrX:Xq28
uncertain significance
NM_021949.3(ATP2B3):c.1473A>G (p.Gly491=) single nucleotide variant Spinocerebellar ataxia, X-linked 1 [RCV000615988] ChrX:153549631 [GRCh38]
ChrX:152815089 [GRCh37]
ChrX:Xq28
benign
NM_001001344.2(ATP2B3):c.2473A>G (p.Ile825Val) single nucleotide variant Inborn genetic diseases [RCV000622643] ChrX:153558151 [GRCh38]
ChrX:152823609 [GRCh37]
ChrX:Xq28
uncertain significance
NM_021949.3(ATP2B3):c.2839+14G>T single nucleotide variant Spinocerebellar ataxia, X-linked 1 [RCV000601168] ChrX:153559956 [GRCh38]
ChrX:152825414 [GRCh37]
ChrX:Xq28
benign
NM_021949.3(ATP2B3):c.2326+11C>T single nucleotide variant Spinocerebellar ataxia, X-linked 1 [RCV000604491] ChrX:153556429 [GRCh38]
ChrX:152821887 [GRCh37]
ChrX:Xq28
benign
NM_021949.3(ATP2B3):c.3052-5C>T single nucleotide variant Spinocerebellar ataxia, X-linked 1 [RCV000607214]|not provided [RCV000949122] ChrX:153562130 [GRCh38]
ChrX:152827588 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NM_021949.3(ATP2B3):c.790+17G>C single nucleotide variant Spinocerebellar ataxia, X-linked 1 [RCV000612189] ChrX:153542465 [GRCh38]
ChrX:152807923 [GRCh37]
ChrX:Xq28
benign
NM_001001344.2(ATP2B3):c.1099C>T (p.Leu367=) single nucleotide variant not provided [RCV000513347] ChrX:153547975 [GRCh38]
ChrX:152813433 [GRCh37]
ChrX:Xq28
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_021949.3(ATP2B3):c.214G>A (p.Ala72Thr) single nucleotide variant not provided [RCV000659182] ChrX:153541364 [GRCh38]
ChrX:152806822 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:152398094-153176959)x2 copy number gain not provided [RCV000684736] ChrX:152398094..153176959 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:152628304-153594168)x2 copy number gain not provided [RCV000684738] ChrX:152628304..153594168 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
Single allele deletion Familial thoracic aortic aneurysm and aortic dissection [RCV000256227] ChrX:153502980..153530518 [GRCh38]
ChrX:152768438..152795976 [GRCh37]
ChrX:Xq28
pathogenic
BGN, 21-KB DEL (SCV000266570) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV000256220]|Meester-loeys syndrome [RCV000412612] ChrX:153501969..153522529 [GRCh38]
ChrX:152767424..152787984 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:152770714-152865451)x2 copy number gain not provided [RCV000753921] ChrX:152770714..152865451 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq28(chrX:152806628-153626649)x2 copy number gain not provided [RCV000753922] ChrX:152806628..153626649 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
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:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [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-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [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
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
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
NM_001001344.2(ATP2B3):c.208+7C>A single nucleotide variant not provided [RCV000902360] ChrX:153536462 [GRCh38]
ChrX:152801920 [GRCh37]
ChrX:Xq28
benign
NM_001001344.2(ATP2B3):c.216G>A (p.Ala72=) single nucleotide variant not provided [RCV000969388] ChrX:153541366 [GRCh38]
ChrX:152806824 [GRCh37]
ChrX:Xq28
benign
NM_001001344.2(ATP2B3):c.2133G>A (p.Thr711=) single nucleotide variant not provided [RCV000923316] ChrX:153556123 [GRCh38]
ChrX:152821581 [GRCh37]
ChrX:Xq28
benign
NM_001001344.2(ATP2B3):c.387G>C (p.Pro129=) single nucleotide variant not provided [RCV000925904] ChrX:153541537 [GRCh38]
ChrX:152806995 [GRCh37]
ChrX:Xq28
benign
NM_001001344.2(ATP2B3):c.3471G>A (p.Pro1157=) single nucleotide variant not provided [RCV000879525] ChrX:153580106 [GRCh38]
ChrX:152845564 [GRCh37]
ChrX:Xq28
benign
NM_001001344.2(ATP2B3):c.2700G>A (p.Ala900=) single nucleotide variant not provided [RCV000902456] ChrX:153559803 [GRCh38]
ChrX:152825261 [GRCh37]
ChrX:Xq28
likely benign
NM_021949.3(ATP2B3):c.2105G>A (p.Arg702His) single nucleotide variant not provided [RCV000996033] ChrX:153556095 [GRCh38]
ChrX:152821553 [GRCh37]
ChrX:Xq28
uncertain significance
NM_021949.3(ATP2B3):c.2213G>A (p.Arg738Gln) single nucleotide variant not provided [RCV000996034] ChrX:153556203 [GRCh38]
ChrX:152821661 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001001344.2(ATP2B3):c.3342+4513G>A single nucleotide variant not provided [RCV000996035] ChrX:153569616 [GRCh38]
ChrX:152835074 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001001344.2(ATP2B3):c.3342+4613C>A single nucleotide variant not provided [RCV000996036] ChrX:153569716 [GRCh38]
ChrX:152835174 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001001344.2(ATP2B3):c.3284G>A (p.Arg1095Gln) single nucleotide variant Spinocerebellar ataxia, X-linked 1 [RCV000790994] ChrX:153565045 [GRCh38]
ChrX:152830503 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001001344.2(ATP2B3):c.197C>T (p.Ser66Leu) single nucleotide variant Fetal akinesia sequence [RCV000855493] ChrX:153536444 [GRCh38]
ChrX:152801902 [GRCh37]
ChrX:Xq28
likely pathogenic
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 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
NM_001001344.2(ATP2B3):c.831C>T (p.Thr277=) single nucleotide variant not provided [RCV000969763] ChrX:153543083 [GRCh38]
ChrX:152808541 [GRCh37]
ChrX:Xq28
benign
NM_001001344.2(ATP2B3):c.1863C>A (p.Gly621=) single nucleotide variant not provided [RCV000914560] ChrX:153553074 [GRCh38]
ChrX:152818532 [GRCh37]
ChrX:Xq28
likely benign
NM_001001344.2(ATP2B3):c.2314A>G (p.Thr772Ala) single nucleotide variant Neonatal hypotonia [RCV000856694] ChrX:153556406 [GRCh38]
ChrX:152821864 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001001344.2(ATP2B3):c.687C>A (p.Gly229=) single nucleotide variant not provided [RCV000936953] ChrX:153542345 [GRCh38]
ChrX:152807803 [GRCh37]
ChrX:Xq28
likely benign
NM_001001344.2(ATP2B3):c.694A>C (p.Ile232Leu) single nucleotide variant not provided [RCV000892727] ChrX:153542352 [GRCh38]
ChrX:152807810 [GRCh37]
ChrX:Xq28
likely benign
NM_001001344.2(ATP2B3):c.407-6G>A single nucleotide variant not provided [RCV000882980] ChrX:153541663 [GRCh38]
ChrX:152807121 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_001001344.2(ATP2B3):c.2721G>A (p.Ser907=) single nucleotide variant not provided [RCV000915701] ChrX:153559824 [GRCh38]
ChrX:152825282 [GRCh37]
ChrX:Xq28
likely benign
NM_001001344.2(ATP2B3):c.1066G>C (p.Glu356Gln) single nucleotide variant not provided [RCV000797173] ChrX:153547942 [GRCh38]
ChrX:152813400 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001001344.2(ATP2B3):c.324C>T (p.Asp108=) single nucleotide variant not provided [RCV000976762] ChrX:153541474 [GRCh38]
ChrX:152806932 [GRCh37]
ChrX:Xq28
likely benign
NM_001001344.2(ATP2B3):c.1233A>G (p.Val411=) single nucleotide variant not provided [RCV000938083] ChrX:153548749 [GRCh38]
ChrX:152814207 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq28(chrX:152405258-152942804)x3 copy number gain not provided [RCV000848589] ChrX:152405258..152942804 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:152765599-152970126)x3 copy number gain not provided [RCV000848856] ChrX:152765599..152970126 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:152822964-152916854)x2 copy number gain not provided [RCV000847345] ChrX:152822964..152916854 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001001344.2(ATP2B3):c.600C>T (p.Asn200=) single nucleotide variant not provided [RCV000916783] ChrX:153541862 [GRCh38]
ChrX:152807320 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq28(chrX:152398094-153086545)x2 copy number gain not provided [RCV000848454] ChrX:152398094..153086545 [GRCh37]
ChrX:Xq28
uncertain significance
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 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
NM_021949.3(ATP2B3):c.*278G>C single nucleotide variant not provided [RCV000996037] ChrX:153580281 [GRCh38]
ChrX:152845739 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001001344.2(ATP2B3):c.1635C>T (p.Cys545=) single nucleotide variant not provided [RCV000909008] ChrX:153550098 [GRCh38]
ChrX:152815556 [GRCh37]
ChrX:Xq28
benign
NM_001001344.2(ATP2B3):c.1293G>A (p.Glu431=) single nucleotide variant not provided [RCV000969764] ChrX:153548809 [GRCh38]
ChrX:152814267 [GRCh37]
ChrX:Xq28
benign
NM_001001344.2(ATP2B3):c.3162C>A (p.Val1054=) single nucleotide variant not provided [RCV000883604] ChrX:153564923 [GRCh38]
ChrX:152830381 [GRCh37]
ChrX:Xq28
benign
NM_001001344.2(ATP2B3):c.1686C>G (p.Arg562=) single nucleotide variant not provided [RCV000896940] ChrX:153550149 [GRCh38]
ChrX:152815607 [GRCh37]
ChrX:Xq28
benign|likely benign
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_001001344.2(ATP2B3):c.1224G>A (p.Pro408=) single nucleotide variant not provided [RCV000888887] ChrX:153548740 [GRCh38]
ChrX:152814198 [GRCh37]
ChrX:Xq28
benign
NM_001001344.2(ATP2B3):c.588G>A (p.Thr196=) single nucleotide variant not provided [RCV000907533] ChrX:153541850 [GRCh38]
ChrX:152807308 [GRCh37]
ChrX:Xq28
benign
NM_001001344.2(ATP2B3):c.330C>A (p.Thr110=) single nucleotide variant not provided [RCV000908260] ChrX:153541480 [GRCh38]
ChrX:152806938 [GRCh37]
ChrX:Xq28
benign
NM_001001344.2(ATP2B3):c.3566G>A (p.Gly1189Asp) single nucleotide variant not provided [RCV000886464] ChrX:153580201 [GRCh38]
ChrX:152845659 [GRCh37]
ChrX:Xq28
likely benign
NM_001001344.2(ATP2B3):c.1763G>A (p.Arg588His) single nucleotide variant not provided [RCV000935842] ChrX:153550226 [GRCh38]
ChrX:152815684 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xq28(chrX:152516781-153368573)x2 copy number gain not provided [RCV001007365] ChrX:152516781..153368573 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xq28(chrX:152631130-153240286)x3 copy number gain not provided [RCV001260062] ChrX:152631130..153240286 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001001344.3(ATP2B3):c.1976C>T (p.Pro659Leu) single nucleotide variant Spinocerebellar ataxia, X-linked 1 [RCV001329440] ChrX:153553187 [GRCh38]
ChrX:152818645 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001001344.3(ATP2B3):c.2086C>T (p.Arg696Cys) single nucleotide variant Spinocerebellar ataxia, X-linked 1 [RCV001352913] ChrX:153556076 [GRCh38]
ChrX:152821534 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001001344.3(ATP2B3):c.2158G>C (p.Gly720Arg) single nucleotide variant Spinocerebellar ataxia, X-linked 1 [RCV001335485] ChrX:153556148 [GRCh38]
ChrX:152821606 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:152649825-152988014) copy number gain Rett syndrome [RCV001291983] ChrX:152649825..152988014 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001001344.3(ATP2B3):c.3316C>T (p.Arg1106Trp) single nucleotide variant Spinocerebellar ataxia, X-linked 1 [RCV001329441] ChrX:153565077 [GRCh38]
ChrX:152830535 [GRCh37]
ChrX:Xq28
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:816 AgrOrtholog
COSMIC ATP2B3 COSMIC
Ensembl Genes ENSG00000067842 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000263519 UniProtKB/Swiss-Prot
  ENSP00000343886 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000352062 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000359205 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000377425 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000263519 UniProtKB/Swiss-Prot
  ENST00000349466 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000359149 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000370186 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000393842 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.1110.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.1000 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000067842 GTEx
HGNC ID HGNC:816 ENTREZGENE
Human Proteome Map ATP2B3 Human Proteome Map
InterPro ATP_Ca_trans_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_P-typ_cation-transptr_C UniProtKB/Swiss-Prot
  ATPase_P-typ_cation-transptr_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_P-typ_cyto_dom_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_P-typ_P_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_P-typ_TM_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_P-typ_transduc_dom_A_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HAD-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HAD_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-type_ATPase_IIB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P_typ_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P_typ_ATPase_HD_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:492 UniProtKB/Swiss-Prot
NCBI Gene 492 ENTREZGENE
OMIM 300014 OMIM
  302500 OMIM
Pfam ATP_Ca_trans_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cation_ATPase_C UniProtKB/Swiss-Prot
  Cation_ATPase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25109 PharmGKB
PROSITE ATPASE_E1_E2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Cation_ATPase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56784 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81653 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81660 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81665 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs ATPase-IIB_Ca UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_P-type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A1L3B5_HUMAN UniProtKB/TrEMBL
  A1X4Q0_HUMAN UniProtKB/TrEMBL
  AT2B3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B7WNR8 UniProtKB/Swiss-Prot
  B7WNY5 UniProtKB/Swiss-Prot
  Q12995 UniProtKB/Swiss-Prot
  Q16858 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-21 ATP2B3  ATPase plasma membrane Ca2+ transporting 3  CLA2  cerebellar ataxia 2 (X-linked)  Data Merged 737654 PROVISIONAL
2016-02-16 ATP2B3  ATPase plasma membrane Ca2+ transporting 3    ATPase, Ca++ transporting, plasma membrane 3  Symbol and/or name change 5135510 APPROVED
2011-08-23 ATP2B3  ATPase, Ca++ transporting, plasma membrane 3  ATP2B3  ATPase, Ca++ transporting, plasma membrane 3  Symbol and/or name change 5135510 APPROVED