TMEM164 (transmembrane protein 164) - Rat Genome Database

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Gene: TMEM164 (transmembrane protein 164) Homo sapiens
Analyze
Symbol: TMEM164
Name: transmembrane protein 164
RGD ID: 1604569
HGNC Page HGNC
Description: Predicted to localize to integral component of membrane; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-hydroxy-5alpha-androstan-3-one; aflatoxin B2.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: bB360B22.3; FLJ20173; FLJ22679; LOC101928589; RP13-360B22.2; uncharacterized LOC101928589; uncharacterized protein LOC101928589
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 EnsemblX110,002,631 - 110,182,734 (+)EnsemblGRCh38hg38GRCh38
GRCh38X110,002,413 - 110,184,251 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X109,245,891 - 109,427,479 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X109,133,018 - 109,303,430 (+)NCBINCBI36hg18NCBI36
CeleraX109,725,502 - 109,900,639 (+)NCBI
Cytogenetic MapXq23NCBI
HuRefX98,867,226 - 99,041,172 (+)NCBIHuRef
CHM1_1X109,157,131 - 109,332,259 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:12477932   PMID:14702039   PMID:15146197   PMID:15342556   PMID:15489334   PMID:15772651   PMID:22658674   PMID:26186194   PMID:28514442   PMID:30737907  


Genomics

Comparative Map Data
TMEM164
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX110,002,631 - 110,182,734 (+)EnsemblGRCh38hg38GRCh38
GRCh38X110,002,413 - 110,184,251 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X109,245,891 - 109,427,479 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X109,133,018 - 109,303,430 (+)NCBINCBI36hg18NCBI36
CeleraX109,725,502 - 109,900,639 (+)NCBI
Cytogenetic MapXq23NCBI
HuRefX98,867,226 - 99,041,172 (+)NCBIHuRef
CHM1_1X109,157,131 - 109,332,259 (+)NCBICHM1_1
Tmem164
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X141,463,343 - 141,626,490 (+)NCBIGRCm39mm39
GRCm39 EnsemblX141,464,402 - 141,626,490 (+)Ensembl
GRCm38X142,680,347 - 142,843,494 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX142,681,406 - 142,843,494 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X139,115,961 - 139,272,781 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X137,927,786 - 138,084,606 (+)NCBImm8
CeleraX126,675,055 - 126,831,458 (+)NCBICelera
Cytogenetic MapXF2NCBI
Tmem164
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X106,288,019 - 106,448,642 (+)NCBI
Rnor_6.0 EnsemblX113,948,654 - 114,110,062 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X113,947,355 - 114,110,064 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X112,397,269 - 112,556,696 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X35,712,709 - 35,875,467 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX105,703,068 - 105,862,182 (+)NCBICelera
Cytogenetic MapXq33NCBI
Tmem164
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554905,673,145 - 5,850,427 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554905,673,204 - 5,850,427 (-)NCBIChiLan1.0ChiLan1.0
TMEM164
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X109,581,210 - 109,756,087 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX109,581,210 - 109,756,087 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X99,111,266 - 99,294,224 (+)NCBIMhudiblu_PPA_v0panPan3
TMEM164
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X83,219,530 - 83,384,900 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX83,219,505 - 83,381,564 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX69,262,609 - 69,461,090 (+)NCBI
ROS_Cfam_1.0X84,835,633 - 85,033,382 (+)NCBI
UMICH_Zoey_3.1X82,312,178 - 82,510,872 (+)NCBI
UNSW_CanFamBas_1.0X84,006,359 - 84,202,570 (+)NCBI
UU_Cfam_GSD_1.0X83,835,339 - 84,035,385 (+)NCBI
Tmem164
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X82,458,485 - 82,616,962 (+)NCBI
SpeTri2.0NW_0049364995,042,638 - 5,199,433 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TMEM164
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX90,105,238 - 90,289,671 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X90,105,293 - 90,289,674 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X103,807,395 - 103,845,060 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TMEM164
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X97,833,179 - 98,007,700 (+)NCBI
ChlSab1.1 EnsemblX97,833,496 - 98,003,343 (+)Ensembl
Vero_WHO_p1.0NW_02366606523,036,283 - 23,225,574 (+)NCBI
Tmem164
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248035,744,576 - 5,914,749 (-)NCBI

Position Markers
L77302  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X109,284,002 - 109,284,094UniSTSGRCh37
Build 36X109,170,658 - 109,170,750RGDNCBI36
CeleraX109,763,636 - 109,763,728RGD
Cytogenetic MapXq22.3UniSTS
HuRefX98,904,720 - 98,904,812UniSTS
DXS8322  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X109,263,848 - 109,264,191UniSTSGRCh37
Build 36X109,150,504 - 109,150,847RGDNCBI36
CeleraX109,743,486 - 109,743,829RGD
Cytogenetic MapXq22.3UniSTS
HuRefX98,884,696 - 98,885,039UniSTS
Whitehead-YAC Contig MapX UniSTS
WI-14027  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X109,420,855 - 109,420,980UniSTSGRCh37
Build 36X109,307,511 - 109,307,636RGDNCBI36
CeleraX109,900,478 - 109,900,603RGD
Cytogenetic MapXq22.3UniSTS
HuRefX99,041,011 - 99,041,136UniSTS
GeneMap99-GB4 RH MapX282.1UniSTS
Whitehead-RH MapX267.4UniSTS
NCBI RH MapX561.2UniSTS
RH41913  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X109,420,591 - 109,420,849UniSTSGRCh37
Build 36X109,307,247 - 109,307,505RGDNCBI36
CeleraX109,900,214 - 109,900,472RGD
Cytogenetic MapXq22.3UniSTS
HuRefX99,040,747 - 99,041,005UniSTS
GeneMap99-GB4 RH MapX292.97UniSTS
NCBI RH MapX561.2UniSTS
DXS6822  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X109,354,533 - 109,354,787UniSTSGRCh37
Build 36X109,241,189 - 109,241,443RGDNCBI36
CeleraX109,834,158 - 109,834,412RGD
Cytogenetic MapXq22.3UniSTS
HuRefX98,974,175 - 98,974,429UniSTS
Whitehead-YAC Contig MapX UniSTS
AFM234WD6  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X109,360,000 - 109,360,204UniSTSGRCh37
Build 36X109,246,656 - 109,246,860RGDNCBI36
CeleraX109,839,625 - 109,839,829RGD
Cytogenetic MapXq22.3UniSTS
HuRefX98,979,829 - 98,980,030UniSTS
Whitehead-YAC Contig MapX UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:14100
Count of miRNA genes:1457
Interacting mature miRNAs:1950
Transcripts:ENST00000288381, ENST00000372068, ENST00000372072, ENST00000372073, ENST00000461715, ENST00000464177, ENST00000471255, ENST00000497754
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 890 1429 1164 186 1392 66 2960 1022 725 217 808 1485 134 816 1615 3
Low 1549 1561 527 403 558 364 1397 1175 3009 200 652 128 41 1 388 1173 3 2
Below cutoff 1 35 35 1 35 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001353849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK000180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL360224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC085605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP295095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU681952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN349076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000288381   ⟹   ENSP00000288381
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX110,003,115 - 110,177,788 (+)Ensembl
RefSeq Acc Id: ENST00000372068   ⟹   ENSP00000361138
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX110,003,114 - 110,177,788 (+)Ensembl
RefSeq Acc Id: ENST00000372072   ⟹   ENSP00000384075
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX110,002,635 - 110,177,784 (+)Ensembl
RefSeq Acc Id: ENST00000372073   ⟹   ENSP00000361143
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX110,003,095 - 110,177,788 (+)Ensembl
RefSeq Acc Id: ENST00000461715
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX110,065,101 - 110,171,511 (+)Ensembl
RefSeq Acc Id: ENST00000464177
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX110,144,855 - 110,182,734 (+)Ensembl
RefSeq Acc Id: ENST00000471255
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX110,002,687 - 110,067,396 (+)Ensembl
RefSeq Acc Id: ENST00000497754
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX110,002,631 - 110,003,594 (+)Ensembl
RefSeq Acc Id: NM_001353849   ⟹   NP_001340778
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,002,663 - 110,184,251 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353850   ⟹   NP_001340779
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,003,114 - 110,184,251 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353851   ⟹   NP_001340780
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,002,663 - 110,177,788 (+)NCBI
Sequence:
RefSeq Acc Id: NM_017698   ⟹   NP_060168
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,002,663 - 110,177,788 (+)NCBI
GRCh37X109,245,641 - 109,421,016 (+)NCBI
CeleraX109,725,502 - 109,900,639 (+)RGD
HuRefX98,867,226 - 99,041,172 (+)ENTREZGENE
CHM1_1X109,157,131 - 109,332,259 (+)NCBI
Sequence:
RefSeq Acc Id: NM_032227   ⟹   NP_115603
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,003,114 - 110,177,788 (+)NCBI
GRCh37X109,245,641 - 109,421,016 (+)NCBI
Build 36X109,133,018 - 109,303,430 (+)NCBI Archive
CeleraX109,725,502 - 109,900,639 (+)RGD
HuRefX98,867,226 - 99,041,172 (+)ENTREZGENE
CHM1_1X109,157,610 - 109,332,259 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005262205   ⟹   XP_005262262
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,003,066 - 110,177,788 (+)NCBI
GRCh37X109,245,641 - 109,421,016 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005262208   ⟹   XP_005262265
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,004,146 - 110,177,788 (+)NCBI
GRCh37X109,245,641 - 109,421,016 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005262239   ⟹   XP_005262296
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,175,773 - 110,177,788 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531054   ⟹   XP_011529356
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,004,075 - 110,177,788 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531055   ⟹   XP_011529357
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,002,641 - 110,177,788 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029894   ⟹   XP_016885383
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,065,024 - 110,177,788 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029895   ⟹   XP_016885384
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,002,413 - 110,016,711 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029897   ⟹   XP_016885386
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,053,056 - 110,177,788 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029898   ⟹   XP_016885387
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,002,413 - 110,144,878 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029899   ⟹   XP_016885388
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,003,069 - 110,177,788 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029900   ⟹   XP_016885389
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,002,641 - 110,177,788 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_115603   ⟸   NM_032227
- Peptide Label: isoform b
- UniProtKB: Q5U3C3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_060168   ⟸   NM_017698
- Peptide Label: isoform a precursor
- UniProtKB: Q5U3C3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005262262   ⟸   XM_005262205
- Peptide Label: isoform X1
- UniProtKB: Q5U3C3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005262265   ⟸   XM_005262208
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011529357   ⟸   XM_011531055
- Peptide Label: isoform X9
- UniProtKB: Q5U3C3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529356   ⟸   XM_011531054
- Peptide Label: isoform X9
- UniProtKB: Q5U3C3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885387   ⟸   XM_017029898
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016885384   ⟸   XM_017029895
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016885389   ⟸   XM_017029900
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016885388   ⟸   XM_017029899
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016885386   ⟸   XM_017029897
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016885383   ⟸   XM_017029894
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: NP_001340778   ⟸   NM_001353849
- Peptide Label: isoform b
- Sequence:
RefSeq Acc Id: NP_001340780   ⟸   NM_001353851
- Peptide Label: isoform c
- Sequence:
RefSeq Acc Id: NP_001340779   ⟸   NM_001353850
- Peptide Label: isoform c
- Sequence:
RefSeq Acc Id: ENSP00000361138   ⟸   ENST00000372068
RefSeq Acc Id: ENSP00000384075   ⟸   ENST00000372072
RefSeq Acc Id: ENSP00000361143   ⟸   ENST00000372073
RefSeq Acc Id: ENSP00000288381   ⟸   ENST00000288381
RefSeq Acc Id: XP_005262296   ⟸   XM_005262239
- Sequence:

Promoters
RGD ID:6808474
Promoter ID:HG_KWN:67745
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000372073,   NM_017698,   NM_032227,   OTTHUMT00000057896,   OTTHUMT00000057899,   OTTHUMT00000057900
Position:
Human AssemblyChrPosition (strand)Source
Build 36X109,132,236 - 109,132,997 (+)MPROMDB
RGD ID:13627860
Promoter ID:EPDNEW_H29205
Type:initiation region
Name:TMEM164_2
Description:transmembrane protein 164
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29206  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,002,425 - 110,002,485EPDNEW
RGD ID:13627864
Promoter ID:EPDNEW_H29206
Type:initiation region
Name:TMEM164_1
Description:transmembrane protein 164
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29205  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,003,114 - 110,003,174EPDNEW

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
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: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)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:10679-156013167)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-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 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 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 Xq21.1-23(chrX:77544283-110500317)x1 copy number loss See cases [RCV000051668] ChrX:77544283..110500317 [GRCh38]
ChrX:76799762..109743545 [GRCh37]
ChrX:76686418..109630201 [NCBI36]
ChrX:Xq21.1-23
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 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: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: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 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
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 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
pathogenic
GRCh38/hg38 Xq23(chrX:109690866-110088881)x2 copy number gain See cases [RCV000052444] ChrX:109690866..110088881 [GRCh38]
ChrX:108934095..109332109 [GRCh37]
ChrX:108820751..109218765 [NCBI36]
ChrX:Xq23
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
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
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: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: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: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 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 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 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: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(chrX:109505229-110588158)x3 copy number gain See cases [RCV000136581] ChrX:109505229..110588158 [GRCh38]
ChrX:108748458..109831386 [GRCh37]
ChrX:108635114..109718042 [NCBI36]
ChrX:Xq23
uncertain significance
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 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 Xq22.1-23(chrX:100597687-111651116)x4 copy number gain See cases [RCV000136029] ChrX:100597687..111651116 [GRCh38]
ChrX:99852684..110894344 [GRCh37]
ChrX:99739340..110781000 [NCBI36]
ChrX:Xq22.1-23
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 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 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 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 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 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 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 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 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 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 Xq21.32-23(chrX:93591590-112530092)x3 copy number gain See cases [RCV000139204] ChrX:93591590..112530092 [GRCh38]
ChrX:92846589..111773320 [GRCh37]
ChrX:92733245..111659976 [NCBI36]
ChrX:Xq21.32-23
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-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-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 Xq23(chrX:110132832-111177628)x3 copy number gain See cases [RCV000141767] ChrX:110132832..111177628 [GRCh38]
ChrX:109376060..110420856 [GRCh37]
ChrX:109262716..110307512 [NCBI36]
ChrX:Xq23
uncertain significance
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
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 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 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 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-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 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 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 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)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
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 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: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
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
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:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
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 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-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 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24
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
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:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [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: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 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 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
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: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: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 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1
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 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
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-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [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 Xq22.3-23(chrX:107370001-110989043)x1 copy number loss See cases [RCV000447004] ChrX:107370001..110989043 [GRCh37]
ChrX:Xq22.3-23
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:168546-155233731)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:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
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 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
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 Xq22.2-23(chrX:103158718-111556067)x2 copy number gain See cases [RCV000448592] ChrX:103158718..111556067 [GRCh37]
ChrX:Xq22.2-23
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-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
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 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
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 Xq21.31-23(chrX:86776682-114054291)x1 copy number loss See cases [RCV000511514] ChrX:86776682..114054291 [GRCh37]
ChrX:Xq21.31-23
pathogenic|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:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
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 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
Single allele duplication Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis [RCV000677949] ChrX:109412385..109552503 [GRCh37]
ChrX:Xq23
uncertain significance
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 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
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 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
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: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 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
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
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 Xq22.3-23(chrX:105973323-110619655)x1 copy number loss not provided [RCV001007332] ChrX:105973323..110619655 [GRCh37]
ChrX:Xq22.3-23
likely 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 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq23(chrX:109275164-109662016)x3 copy number gain not provided [RCV000847328] ChrX:109275164..109662016 [GRCh37]
ChrX:Xq23
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 Xq23(chrX:109418639-110180983)x1 copy number loss not provided [RCV001007333] ChrX:109418639..110180983 [GRCh37]
ChrX:Xq23
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 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
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 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
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 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
pathogenic
Single allele duplication Schizophrenia [RCV000754364] ChrX:110074915..115196481 [GRCh38]
ChrX:Xq23
likely 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 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_032227.4(TMEM164):c.587-1G>C single nucleotide variant not provided [RCV001280790] ChrX:110171419 [GRCh38]
ChrX:109414647 [GRCh37]
ChrX:Xq23
uncertain significance
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26217 AgrOrtholog
COSMIC TMEM164 COSMIC
Ensembl Genes ENSG00000157600 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000288381 UniProtKB/TrEMBL
  ENSP00000361138 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000361143 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000384075 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000288381 UniProtKB/TrEMBL
  ENST00000372068 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000372072 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000372073 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000157600 GTEx
HGNC ID HGNC:26217 ENTREZGENE
Human Proteome Map TMEM164 Human Proteome Map
InterPro TMEM164 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84187 UniProtKB/Swiss-Prot
NCBI Gene 84187 ENTREZGENE
PANTHER PTHR20948 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TMEM164 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA145148045 PharmGKB
UniProt Q5U3C3 ENTREZGENE
  Q9H617_HUMAN UniProtKB/TrEMBL
  TM164_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B3KSQ8 UniProtKB/Swiss-Prot
  F5H2P2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-01-28 TMEM164  transmembrane protein 164  LOC101928589  uncharacterized LOC101928589  Data Merged 737654 PROVISIONAL