MAGT1 (magnesium transporter 1) - Rat Genome Database

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Gene: MAGT1 (magnesium transporter 1) Homo sapiens
Analyze
Symbol: MAGT1
Name: magnesium transporter 1
RGD ID: 731507
HGNC Page HGNC
Description: Exhibits magnesium ion transmembrane transporter activity. Involved in cognition; magnesium ion transport; and protein N-linked glycosylation via asparagine. Localizes to oligosaccharyltransferase complex. Implicated in X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia; congenital disorder of glycosylation Icc; and non-syndromic X-linked intellectual disability.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: bA217H1.1; CDG1CC; DKFZp564K142; dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1; FLJ14726; IAP; implantation-associated protein; magnesium transporter protein 1; MGC64926; MRX95; oligosaccharyl transferase subunit MAGT1; oligosaccharyltransferase 3 homolog B; OST3B; PRO0756; RP11-217H1.1; SLC58A1; XMEN
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100128093  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX77,826,364 - 77,895,593 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX77,825,747 - 77,895,593 (-)EnsemblGRCh38hg38GRCh38
GRCh38X77,825,747 - 77,895,568 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X77,081,244 - 77,151,065 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X76,968,517 - 77,037,583 (-)NCBINCBI36hg18NCBI36
Build 34X76,888,006 - 76,957,072NCBI
CeleraX77,322,738 - 77,391,930 (-)NCBI
Cytogenetic MapXq21.1NCBI
HuRefX70,668,637 - 70,736,760 (-)NCBIHuRef
CHM1_1X76,974,589 - 77,043,753 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:8125298   PMID:11230166   PMID:11483580   PMID:12477932   PMID:12887896   PMID:12975309   PMID:14702039   PMID:15164054   PMID:15489334   PMID:15804357   PMID:15835887   PMID:16303743  
PMID:17207965   PMID:18455129   PMID:19717468   PMID:19946888   PMID:20301507   PMID:21627970   PMID:21796205   PMID:21873635   PMID:21983175   PMID:22190034   PMID:22268729   PMID:22658674  
PMID:22939629   PMID:24130152   PMID:24457600   PMID:25135935   PMID:25609649   PMID:26344197   PMID:26472760   PMID:26496610   PMID:26617690   PMID:26638075   PMID:27173435   PMID:28380382  
PMID:28443643   PMID:28655764   PMID:28692057   PMID:28720733   PMID:29051561   PMID:29180619   PMID:29395067   PMID:29509190   PMID:29568061   PMID:29599191   PMID:30021884   PMID:30385806  
PMID:30463901   PMID:30804502   PMID:30952425   PMID:31036665   PMID:31038761   PMID:31046837   PMID:31056421   PMID:31073040   PMID:31266804   PMID:31337704   PMID:31527615   PMID:31536960  
PMID:31980649   PMID:32633723   PMID:32877691   PMID:33001583   PMID:33144569  


Genomics

Comparative Map Data
MAGT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX77,826,364 - 77,895,593 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX77,825,747 - 77,895,593 (-)EnsemblGRCh38hg38GRCh38
GRCh38X77,825,747 - 77,895,568 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X77,081,244 - 77,151,065 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X76,968,517 - 77,037,583 (-)NCBINCBI36hg18NCBI36
Build 34X76,888,006 - 76,957,072NCBI
CeleraX77,322,738 - 77,391,930 (-)NCBI
Cytogenetic MapXq21.1NCBI
HuRefX70,668,637 - 70,736,760 (-)NCBIHuRef
CHM1_1X76,974,589 - 77,043,753 (-)NCBICHM1_1
Magt1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X105,011,690 - 105,055,408 (-)NCBIGRCm39mm39
GRCm39 EnsemblX105,011,690 - 105,055,512 (-)Ensembl
GRCm38X105,968,084 - 106,011,802 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX105,968,084 - 106,011,906 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X103,163,423 - 103,207,238 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X102,172,936 - 102,214,495 (-)NCBImm8
CeleraX92,821,884 - 92,865,614 (-)NCBICelera
Cytogenetic MapXDNCBI
Magt1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X71,038,489 - 71,079,704 (-)NCBI
Rnor_6.0 EnsemblX77,020,402 - 77,061,667 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X77,023,423 - 77,061,603 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X56,146,028 - 56,184,208 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X94,095,479 - 94,133,659 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X94,168,934 - 94,207,092 (-)NCBI
CeleraX72,353,918 - 72,392,096 (-)NCBICelera
Cytogenetic MapXq22NCBI
Magt1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555571,290,615 - 1,336,198 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555571,294,408 - 1,336,164 (-)NCBIChiLan1.0ChiLan1.0
MAGT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X77,122,801 - 77,190,690 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX77,122,801 - 77,190,690 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X67,009,590 - 67,078,691 (-)NCBIMhudiblu_PPA_v0panPan3
MAGT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X60,122,021 - 60,186,457 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX60,128,571 - 60,186,507 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX51,135,133 - 51,199,577 (-)NCBI
ROS_Cfam_1.0X61,360,509 - 61,425,186 (-)NCBI
UMICH_Zoey_3.1X59,066,835 - 59,130,908 (-)NCBI
UNSW_CanFamBas_1.0X60,676,273 - 60,741,764 (-)NCBI
UU_Cfam_GSD_1.0X60,264,710 - 60,329,424 (-)NCBI
Magt1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X42,172,097 - 42,212,171 (+)NCBI
SpeTri2.0NW_0049366832,737,545 - 2,775,679 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MAGT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX61,894,237 - 61,958,517 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X61,894,237 - 61,958,511 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X70,812,442 - 70,877,270 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MAGT1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X66,798,408 - 66,829,249 (-)NCBI
ChlSab1.1 EnsemblX66,797,359 - 66,829,263 (-)Ensembl
Vero_WHO_p1.0NW_02366606714,678,349 - 14,732,000 (+)NCBI
Magt1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248363,076,940 - 3,144,004 (+)NCBI

Position Markers
G20677  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X77,081,991 - 77,082,105UniSTSGRCh37
Build 36X76,968,647 - 76,968,761RGDNCBI36
CeleraX77,322,868 - 77,322,982RGD
Cytogenetic MapXq21.1UniSTS
HuRefX70,668,767 - 70,668,881UniSTS
A006B26  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X77,081,991 - 77,082,105UniSTSGRCh37
Build 36X76,968,647 - 76,968,761RGDNCBI36
CeleraX77,322,868 - 77,322,982RGD
Cytogenetic MapXq21.1UniSTS
HuRefX70,668,767 - 70,668,881UniSTS
GeneMap99-GB4 RH MapX246.66UniSTS
DXS7802  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X77,148,713 - 77,148,837UniSTSGRCh37
Build 36X77,035,369 - 77,035,493RGDNCBI36
CeleraX77,389,578 - 77,389,702RGD
Cytogenetic MapXq21.1UniSTS
HuRefX70,734,408 - 70,734,532UniSTS
DXS7160  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X77,113,048 - 77,113,159UniSTSGRCh37
Build 36X76,999,704 - 76,999,815RGDNCBI36
CeleraX77,353,905 - 77,354,016RGD
Cytogenetic MapXq21.1UniSTS
HuRefX70,700,247 - 70,700,358UniSTS
Whitehead-RH MapX197.1UniSTS
Whitehead-YAC Contig MapX UniSTS
WI-17398  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X77,081,889 - 77,082,027UniSTSGRCh37
Build 36X76,968,545 - 76,968,683RGDNCBI36
CeleraX77,322,766 - 77,322,904RGD
Cytogenetic MapXq21.1UniSTS
HuRefX70,668,665 - 70,668,803UniSTS
GeneMap99-GB4 RH MapX246.77UniSTS
Whitehead-RH MapX195.4UniSTS
L17705  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map18q21.31UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21.3UniSTS
D1S1361  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p21.1-p12.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map17q21UniSTS
MARC_15757-15758:1017937100:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X77,111,047 - 77,112,326UniSTSGRCh37
CeleraX77,351,904 - 77,353,183UniSTS
HuRefX70,698,173 - 70,699,525UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2855
Count of miRNA genes:1186
Interacting mature miRNAs:1460
Transcripts:ENST00000358075, ENST00000373336, ENST00000476168
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 2397 2456 1705 616 1592 458 4022 1698 1904 401 1322 1611 174 1 1202 2458 6 2
Low 42 535 21 8 359 7 335 499 1830 18 138 2 1 2 330
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF130104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK172735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL138743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC060842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC329979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ000004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000358075   ⟹   ENSP00000354649
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX77,826,364 - 77,895,593 (-)Ensembl
RefSeq Acc Id: ENST00000373336   ⟹   ENSP00000362433
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX77,868,108 - 77,895,440 (-)Ensembl
RefSeq Acc Id: ENST00000476168
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX77,856,460 - 77,895,424 (-)Ensembl
RefSeq Acc Id: ENST00000610432   ⟹   ENSP00000478379
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX77,826,367 - 77,895,568 (-)Ensembl
RefSeq Acc Id: ENST00000618282   ⟹   ENSP00000480732
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX77,827,461 - 77,895,431 (-)Ensembl
RefSeq Acc Id: NM_001367916   ⟹   NP_001354845
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X77,825,747 - 77,895,435 (-)NCBI
RefSeq Acc Id: NM_032121   ⟹   NP_115497
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X77,826,364 - 77,895,568 (-)NCBI
GRCh37X77,081,861 - 77,151,090 (-)NCBI
Build 36X76,968,517 - 77,037,583 (-)NCBI Archive
CeleraX77,322,738 - 77,391,930 (-)RGD
HuRefX70,668,637 - 70,736,760 (-)ENTREZGENE
CHM1_1X76,974,589 - 77,043,753 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_115497   ⟸   NM_032121
- Peptide Label: isoform 2
- UniProtKB: Q9H0U3 (UniProtKB/Swiss-Prot),   A0A087WU53 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001354845   ⟸   NM_001367916
- Peptide Label: isoform 1 precursor
RefSeq Acc Id: ENSP00000362433   ⟸   ENST00000373336
RefSeq Acc Id: ENSP00000478379   ⟸   ENST00000610432
RefSeq Acc Id: ENSP00000480732   ⟸   ENST00000618282
RefSeq Acc Id: ENSP00000354649   ⟸   ENST00000358075
Protein Domains
Thioredoxin

Promoters
RGD ID:6808699
Promoter ID:HG_KWN:67329
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000373336,   ENST00000373338,   ENST00000395576,   ENST00000395579,   OTTHUMT00000057301
Position:
Human AssemblyChrPosition (strand)Source
Build 36X77,037,329 - 77,037,829 (-)MPROMDB
RGD ID:13627500
Promoter ID:EPDNEW_H29025
Type:initiation region
Name:MAGT1_1
Description:magnesium transporter 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X77,895,431 - 77,895,491EPDNEW
RGD ID:6850556
Promoter ID:EP73024
Type:initiation region
Name:HS_DKFZp564K142
Description:Hypothetical protein DKFZp564K142 similar toimplantation-associated protein.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:No map positions available.

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001367916.1(MAGT1):c.826_826+9del deletion Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV000022873] ChrX:77853892..77853901 [GRCh38]
ChrX:77109389..77109398 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_001367916.1(MAGT1):c.313C>T (p.Arg105Ter) single nucleotide variant Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV000022874]|not provided [RCV000489605] ChrX:77870885 [GRCh38]
ChrX:77126382 [GRCh37]
ChrX:Xq21.1
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
NM_001367916.1(MAGT1):c.836T>G (p.Val279Gly) single nucleotide variant not provided [RCV000088658] ChrX:77841311 [GRCh38]
ChrX:77096808 [GRCh37]
ChrX:Xq21.1
uncertain significance
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 Xq21.1(chrX:77784830-78691660)x2 copy number gain See cases [RCV000050671] ChrX:77784830..78691660 [GRCh38]
ChrX:77040316..77947157 [GRCh37]
ChrX:76926972..77833813 [NCBI36]
ChrX:Xq21.1
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 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(chrX:77829855-77902263)x2 copy number gain See cases [RCV000052437] ChrX:77829855..77902263 [GRCh38]
ChrX:77085352..77130133 [GRCh37]
ChrX:76972008..77044416 [NCBI36]
ChrX:Xq21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-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 Xq21.1(chrX:77829855-78514258)x3 copy number gain See cases [RCV000054212] ChrX:77829855..78514258 [GRCh38]
ChrX:77085352..77769755 [GRCh37]
ChrX:76972008..77656411 [NCBI36]
ChrX:Xq21.1
uncertain significance
GRCh38/hg38 Xq21.1(chrX:77829855-77858051)x2 copy number gain See cases [RCV000054213] ChrX:77829855..77858051 [GRCh38]
ChrX:77085352..77113548 [GRCh37]
ChrX:76972008..77000204 [NCBI36]
ChrX:Xq21.1
uncertain significance
NM_001367916.1(MAGT1):c.932T>G (p.Val311Gly) single nucleotide variant Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV000990877]|not specified [RCV000082292] ChrX:77830865 [GRCh38]
ChrX:77086362 [GRCh37]
ChrX:Xq21.1
benign
NM_001367916.1(MAGT1):c.16C>T (p.Arg6Trp) single nucleotide variant Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV001085781]|not provided [RCV000082293] ChrX:77895395 [GRCh38]
ChrX:77150892 [GRCh37]
ChrX:Xq21.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032121.5(MAGT1):c.45C>T (p.Thr15=) single nucleotide variant not provided [RCV000082294] ChrX:77895462 [GRCh38]
ChrX:77150959 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001367916.1(MAGT1):c.651T>A (p.Thr217=) single nucleotide variant Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV000535332]|not specified [RCV000117576] ChrX:77856754 [GRCh38]
ChrX:77112251 [GRCh37]
ChrX:Xq21.1
benign|likely benign
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_032121.5(MAGT1):c.56G>T (p.Ser19Ile) single nucleotide variant Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV001348117] ChrX:77895451 [GRCh38]
ChrX:77150948 [GRCh37]
ChrX:Xq21.1
uncertain significance
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 Xq21.1(chrX:77829855-77858051)x3 copy number gain See cases [RCV000133599] ChrX:77829855..77858051 [GRCh38]
ChrX:77085352..77113548 [GRCh37]
ChrX:76972008..77000204 [NCBI36]
ChrX:Xq21.1
uncertain significance
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(chrX:77768771-77928775)x3 copy number gain See cases [RCV000133698] ChrX:77768771..77928775 [GRCh38]
ChrX:77024252..77130133 [GRCh37]
ChrX:76910908..77070928 [NCBI36]
ChrX:Xq21.1
uncertain significance
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 Xq11.1-21.1(chrX:62712219-78605009)x3 copy number gain See cases [RCV000134569] ChrX:62712219..78605009 [GRCh38]
ChrX:61931689..77860506 [GRCh37]
ChrX:61848414..77747162 [NCBI36]
ChrX:Xq11.1-21.1
pathogenic
GRCh38/hg38 Xq21.1(chrX:77798947-77887557)x2 copy number gain See cases [RCV000134544] ChrX:77798947..77887557 [GRCh38]
ChrX:77054444..77143054 [GRCh37]
ChrX:76941100..77029710 [NCBI36]
ChrX:Xq21.1
pathogenic
GRCh38/hg38 Xq21.1(chrX:77798947-77887557)x3 copy number gain See cases [RCV000134545] ChrX:77798947..77887557 [GRCh38]
ChrX:77054444..77143054 [GRCh37]
ChrX:Xq21.1
uncertain significance
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 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31
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 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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 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 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xq21.1(chrX:77784830-77925954)x2 copy number gain See cases [RCV000138273] ChrX:77784830..77925954 [GRCh38]
ChrX:77040316..77130133 [GRCh37]
ChrX:76926972..77068107 [NCBI36]
ChrX:Xq21.1
uncertain significance
GRCh38/hg38 Xq21.1(chrX:77784830-77925954)x3 copy number gain See cases [RCV000138275] ChrX:77784830..77925954 [GRCh38]
ChrX:77040316..77181451 [GRCh37]
ChrX:76926972..77068107 [NCBI36]
ChrX:Xq21.1
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 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 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(chrX:77803550-77890125)x3 copy number gain See cases [RCV000141791] ChrX:77803550..77890125 [GRCh38]
ChrX:77059047..77145622 [GRCh37]
ChrX:76945703..77032278 [NCBI36]
ChrX:Xq21.1
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(chrX:77799457-77890125)x3 copy number gain See cases [RCV000141674] ChrX:77799457..77890125 [GRCh38]
ChrX:77054954..77145622 [GRCh37]
ChrX:Xq21.1
uncertain significance|conflicting data from submitters
GRCh38/hg38 Xq21.1(chrX:77787116-77890125)x3 copy number gain See cases [RCV000142364] ChrX:77787116..77890125 [GRCh38]
ChrX:77042594..77145622 [GRCh37]
ChrX:76929250..77032278 [NCBI36]
ChrX:Xq21.1
uncertain significance
GRCh38/hg38 Xq12-21.1(chrX:66445907-78172208)x3 copy number gain See cases [RCV000142336] ChrX:66445907..78172208 [GRCh38]
ChrX:65665749..77427705 [GRCh37]
ChrX:65582474..77314361 [NCBI36]
ChrX:Xq12-21.1
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 Xq21.1(chrX:77803550-77887501)x3 copy number gain See cases [RCV000143437] ChrX:77803550..77887501 [GRCh38]
ChrX:77059047..77142998 [GRCh37]
ChrX:76945703..77029654 [NCBI36]
ChrX:Xq21.1
uncertain significance
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 Xq21.1(chrX:77799457-77890125)x2 copy number gain See cases [RCV000143382] ChrX:77799457..77890125 [GRCh38]
ChrX:77054954..77145622 [GRCh37]
ChrX:76941610..77032278 [NCBI36]
ChrX:Xq21.1
uncertain significance
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: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 Xp22.33-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
GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1 copy number loss See cases [RCV000511311] ChrX:55240087..78225374 [GRCh37]
ChrX:Xp11.21-q21.1
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
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:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
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:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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
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
NM_001367916.1(MAGT1):c.-9G>A single nucleotide variant Inborn genetic diseases [RCV000623664] ChrX:77895419 [GRCh38]
ChrX:77150916 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001367916.1(MAGT1):c.972A>C (p.Lys324Asn) single nucleotide variant Congenital disorder of glycosylation [RCV000767844]|Congenital disorder of glycosylation, type ICC [RCV000850166] ChrX:77830825 [GRCh38]
ChrX:77086322 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_032121.5(MAGT1):c.67G>A (p.Val23Ile) single nucleotide variant Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV001080344]|not provided [RCV000513945] ChrX:77895440 [GRCh38]
ChrX:77150937 [GRCh37]
ChrX:Xq21.1
benign|likely benign
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 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 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
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 Xq13.1-21.1(chrX:71316395-84337550)x3 copy number gain See cases [RCV000447565] ChrX:71316395..84337550 [GRCh37]
ChrX:Xq13.1-21.1
uncertain significance
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 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:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-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 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1(chrX:77054991-77145622)x2 copy number gain See cases [RCV000512110] ChrX:77054991..77145622 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001367916.1(MAGT1):c.14G>A (p.Trp5Ter) single nucleotide variant Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV000850121]|not provided [RCV000479226] ChrX:77895397 [GRCh38]
ChrX:77150894 [GRCh37]
ChrX:Xq21.1
pathogenic
GRCh37/hg19 Xq21.1(chrX:77059047-77145622)x2 copy number gain See cases [RCV000510512] ChrX:77059047..77145622 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xq21.1(chrX:77032238-77144366)x3 copy number gain not provided [RCV000509173] ChrX:77032238..77144366 [GRCh37]
ChrX:Xq21.1
not provided
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 Xq21.1(chrX:77054991-77144366)x3 copy number gain See cases [RCV000510454] ChrX:77054991..77144366 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xq21.1(chrX:76959723-77242763)x3 copy number gain See cases [RCV000510582] ChrX:76959723..77242763 [GRCh37]
ChrX:Xq21.1
likely pathogenic
GRCh37/hg19 Xq21.1(chrX:77042594-77145641)x3 copy number gain See cases [RCV000511556] ChrX:77042594..77145641 [GRCh37]
ChrX:Xq21.1
likely benign
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 Xq21.1(chrX:77042599-77142922)x3 copy number gain See cases [RCV000511892] ChrX:77042599..77142922 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
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 Xq21.1(chrX:77042599-77145622)x2 copy number gain See cases [RCV000511383] ChrX:77042599..77145622 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xq21.1(chrX:77136497-77331185)x1 copy number loss See cases [RCV000512032] ChrX:77136497..77331185 [GRCh37]
ChrX:Xq21.1
uncertain significance
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: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
GRCh37/hg19 Xq21.1(chrX:77145640-77173912)x3 copy number gain See cases [RCV000510831] ChrX:77145640..77173912 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24
pathogenic
NM_001367916.1(MAGT1):c.992+1G>A single nucleotide variant Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV000533972]|Inherited Immunodeficiency Diseases [RCV001027590] ChrX:77830804 [GRCh38]
ChrX:77086301 [GRCh37]
ChrX:Xq21.1
likely pathogenic|uncertain significance
GRCh37/hg19 Xq21.1(chrX:77054955-77142998)x3 copy number gain See cases [RCV000512268] ChrX:77054955..77142998 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xq21.1(chrX:77054954-77144366)x2 copy number gain See cases [RCV000512161] ChrX:77054954..77144366 [GRCh37]
ChrX:Xq21.1
likely benign
NM_032121.5(MAGT1):c.58C>T (p.Arg20Trp) single nucleotide variant Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV000649030] ChrX:77895449 [GRCh38]
ChrX:77150946 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001367916.1(MAGT1):c.127C>T (p.Gln43Ter) single nucleotide variant Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV000649031] ChrX:77875573 [GRCh38]
ChrX:77131070 [GRCh37]
ChrX:Xq21.1
pathogenic
NC_000023.10:g.(?_77084697)_(77131114_?)dup duplication Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV000649032] ChrX:77084697..77131114 [GRCh37]
ChrX:Xq21.1
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
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xq21.1(chrX:76820808-78113526)x3 copy number gain not provided [RCV000684349] ChrX:76820808..78113526 [GRCh37]
ChrX:Xq21.1
likely pathogenic
GRCh37/hg19 Xq21.1(chrX:76902857-77454045)x2 copy number gain not provided [RCV000684350] ChrX:76902857..77454045 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_001367916.1(MAGT1):c.348dup (p.Ala117fs) duplication Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV000701956] ChrX:77870849..77870850 [GRCh38]
ChrX:77126346..77126347 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_032121.5(MAGT1):c.65_66del (p.Lys22fs) deletion Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV000694705] ChrX:77895441..77895442 [GRCh38]
ChrX:77150938..77150939 [GRCh37]
ChrX:Xq21.1
pathogenic|likely benign
GRCh37/hg19 Xq21.1(chrX:76709799-77196518)x2 copy number gain not provided [RCV000753611] ChrX:76709799..77196518 [GRCh37]
ChrX:Xq21.1
benign
GRCh37/hg19 Xq21.1(chrX:77030645-77123745)x0 copy number loss not provided [RCV000753612] ChrX:77030645..77123745 [GRCh37]
ChrX:Xq21.1
benign
GRCh37/hg19 Xq21.1(chrX:77030645-77205047)x0 copy number loss not provided [RCV000753613] ChrX:77030645..77205047 [GRCh37]
ChrX:Xq21.1
benign
GRCh37/hg19 Xq21.1(chrX:77082895-77123745)x0 copy number loss not provided [RCV000753614] ChrX:77082895..77123745 [GRCh37]
ChrX:Xq21.1
benign
GRCh37/hg19 Xq21.1(chrX:77086428-77123745)x0 copy number loss not provided [RCV000753615] ChrX:77086428..77123745 [GRCh37]
ChrX:Xq21.1
benign
GRCh37/hg19 Xq21.1(chrX:77086428-77160534)x0 copy number loss not provided [RCV000753616] ChrX:77086428..77160534 [GRCh37]
ChrX:Xq21.1
benign
GRCh37/hg19 Xq21.1(chrX:77105685-77160534)x0 copy number loss not provided [RCV000753617] ChrX:77105685..77160534 [GRCh37]
ChrX:Xq21.1
benign
GRCh37/hg19 Xq21.1(chrX:77106045-77123745)x0 copy number loss not provided [RCV000753618] ChrX:77106045..77123745 [GRCh37]
ChrX:Xq21.1
benign
GRCh37/hg19 Xq21.1(chrX:77106045-77161634)x0 copy number loss not provided [RCV000753619] ChrX:77106045..77161634 [GRCh37]
ChrX:Xq21.1
benign
GRCh37/hg19 Xq21.1(chrX:77121695-77161634)x0 copy number loss not provided [RCV000753620] ChrX:77121695..77161634 [GRCh37]
ChrX:Xq21.1
benign
GRCh37/hg19 Xq21.1(chrX:77121795-77123745)x0 copy number loss not provided [RCV000753621] ChrX:77121795..77123745 [GRCh37]
ChrX:Xq21.1
benign
GRCh37/hg19 Xq21.1(chrX:77122745-77123745)x0 copy number loss not provided [RCV000753622] ChrX:77122745..77123745 [GRCh37]
ChrX:Xq21.1
benign
GRCh37/hg19 Xq21.1(chrX:77122745-77160534)x0 copy number loss not provided [RCV000753623] ChrX:77122745..77160534 [GRCh37]
ChrX:Xq21.1
benign
GRCh37/hg19 Xq21.1(chrX:77122845-77160534)x0 copy number loss not provided [RCV000753624] ChrX:77122845..77160534 [GRCh37]
ChrX:Xq21.1
benign
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 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:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [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: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 Xq21.1(chrX:76707749-77398963)x2 copy number gain not provided [RCV001007316] ChrX:76707749..77398963 [GRCh37]
ChrX:Xq21.1
uncertain significance
NC_000023.10:g.(?_77150786)_(77151023_?)dup duplication Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV001032441] ChrX:77150786..77151023 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_032121.5(MAGT1):c.368+1G>C single nucleotide variant Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV001047215] ChrX:77875427 [GRCh38]
ChrX:77130924 [GRCh37]
ChrX:Xq21.1
likely pathogenic
NM_001367916.1(MAGT1):c.895C>T (p.Arg299Ter) single nucleotide variant Congenital disorder of glycosylation [RCV000767845]|Congenital disorder of glycosylation, type ICC [RCV000850167] ChrX:77841252 [GRCh38]
ChrX:77096749 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_001367916.1(MAGT1):c.342A>T (p.Ile114=) single nucleotide variant not provided [RCV000905531] ChrX:77870856 [GRCh38]
ChrX:77126353 [GRCh37]
ChrX:Xq21.1
benign
NM_001367916.1(MAGT1):c.842T>G (p.Leu281Ter) single nucleotide variant Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV000767846] ChrX:77841305 [GRCh38]
ChrX:77096802 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_001367916.1(MAGT1):c.511G>A (p.Ala171Thr) single nucleotide variant Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV000920394] ChrX:77857377 [GRCh38]
ChrX:77112874 [GRCh37]
ChrX:Xq21.1
benign
NM_001367916.1(MAGT1):c.-5C>T single nucleotide variant Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV000797948] ChrX:77895415 [GRCh38]
ChrX:77150912 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001367916.1(MAGT1):c.583C>T (p.Leu195Phe) single nucleotide variant Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV000816289] ChrX:77856822 [GRCh38]
ChrX:77112319 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001367916.1(MAGT1):c.397A>T (p.Met133Leu) single nucleotide variant Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV000807527] ChrX:77857491 [GRCh38]
ChrX:77112988 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001367916.1(MAGT1):c.824_825dup (p.Asn276fs) duplication not provided [RCV000788512] ChrX:77853901..77853902 [GRCh38]
ChrX:77109398..77109399 [GRCh37]
ChrX:Xq21.1
likely pathogenic
NM_001367916.1(MAGT1):c.399del (p.Met133fs) deletion Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV000812589] ChrX:77857489 [GRCh38]
ChrX:77112986 [GRCh37]
ChrX:Xq21.1
likely pathogenic
NM_001367916.1(MAGT1):c.676_680del (p.Phe226fs) deletion Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV000819562] ChrX:77855583..77855587 [GRCh38]
ChrX:77111080..77111084 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_001367916.1(MAGT1):c.827-1_838del deletion Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV000814433] ChrX:77841309..77841321 [GRCh38]
ChrX:77096806..77096818 [GRCh37]
ChrX:Xq21.1
likely pathogenic
NM_001367916.1(MAGT1):c.641_642insGA (p.Phe214fs) insertion Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV000803993] ChrX:77856763..77856764 [GRCh38]
ChrX:77112260..77112261 [GRCh37]
ChrX:Xq21.1
pathogenic
GRCh37/hg19 Xq21.1(chrX:77145640-77176642)x2 copy number gain not provided [RCV000848693] ChrX:77145640..77176642 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001367916.1(MAGT1):c.273-5T>C single nucleotide variant not provided [RCV000914452] ChrX:77870930 [GRCh38]
ChrX:77126427 [GRCh37]
ChrX:Xq21.1
likely benign
GRCh37/hg19 Xq13.3-21.31(chrX:74667077-90312981)x1 copy number loss not provided [RCV000847338] ChrX:74667077..90312981 [GRCh37]
ChrX:Xq13.3-21.31
pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
NM_001367916.1(MAGT1):c.502del (p.Arg168fs) deletion Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV000850122] ChrX:77857386 [GRCh38]
ChrX:77112883 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_001367916.1(MAGT1):c.616C>T (p.Arg206Ter) single nucleotide variant Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV000850123] ChrX:77856789 [GRCh38]
ChrX:77112286 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_001367916.1(MAGT1):c.459dup (p.Tyr154fs) duplication Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV000850124] ChrX:77857428..77857429 [GRCh38]
ChrX:77112925..77112926 [GRCh37]
ChrX:Xq21.1
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
NM_001367916.1(MAGT1):c.958A>G (p.Ile320Val) single nucleotide variant Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV001228943] ChrX:77830839 [GRCh38]
ChrX:77086336 [GRCh37]
ChrX:Xq21.1
uncertain significance
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 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.1(chrX:77084717-77131094)x3 copy number gain not provided [RCV000996090] ChrX:77084717..77131094 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_032121.5(MAGT1):c.3G>A (p.Met1Ile) single nucleotide variant Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV000914491] ChrX:77895504 [GRCh38]
ChrX:77151001 [GRCh37]
ChrX:Xq21.1
benign
NM_001367916.1(MAGT1):c.480T>C (p.Gly160=) single nucleotide variant not provided [RCV000980757] ChrX:77857408 [GRCh38]
ChrX:77112905 [GRCh37]
ChrX:Xq21.1
likely benign
NM_001367916.1(MAGT1):c.449G>A (p.Arg150Gln) single nucleotide variant Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV000923666] ChrX:77857439 [GRCh38]
ChrX:77112936 [GRCh37]
ChrX:Xq21.1
likely benign
NM_001367916.1(MAGT1):c.207G>A (p.Pro69=) single nucleotide variant Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV000923794] ChrX:77875493 [GRCh38]
ChrX:77130990 [GRCh37]
ChrX:Xq21.1
benign
NM_001367916.1(MAGT1):c.-16A>G single nucleotide variant Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV000959724] ChrX:77895426 [GRCh38]
ChrX:77150923 [GRCh37]
ChrX:Xq21.1
benign
NM_001367916.1(MAGT1):c.17G>C (p.Arg6Pro) single nucleotide variant Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV000926563] ChrX:77895394 [GRCh38]
ChrX:77150891 [GRCh37]
ChrX:Xq21.1
benign
NM_001367916.1(MAGT1):c.763-10T>A single nucleotide variant Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV001201811] ChrX:77853974 [GRCh38]
ChrX:77109471 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001367916.1(MAGT1):c.154C>T (p.Pro52Ser) single nucleotide variant Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV001233891] ChrX:77875546 [GRCh38]
ChrX:77131043 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001367916.1(MAGT1):c.10C>T (p.Arg4Cys) single nucleotide variant Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV001245399] ChrX:77895401 [GRCh38]
ChrX:77150898 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001367916.1(MAGT1):c.-10A>T single nucleotide variant Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV001245602] ChrX:77895420 [GRCh38]
ChrX:77150917 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001367916.1(MAGT1):c.736C>T (p.His246Tyr) single nucleotide variant Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV001047276] ChrX:77855527 [GRCh38]
ChrX:77111024 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001367916.1(MAGT1):c.160A>G (p.Ile54Val) single nucleotide variant Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV001233412] ChrX:77875540 [GRCh38]
ChrX:77131037 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001367916.1(MAGT1):c.431C>T (p.Ala144Val) single nucleotide variant Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV001196555] ChrX:77857457 [GRCh38]
ChrX:77112954 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001367916.1(MAGT1):c.265G>A (p.Val89Ile) single nucleotide variant Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV001206551] ChrX:77875435 [GRCh38]
ChrX:77130932 [GRCh37]
ChrX:Xq21.1
uncertain significance
NC_000023.10:g.(?_77084697)_(77264780_?)dup duplication Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV001032982] ChrX:77084697..77264780 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001367916.1(MAGT1):c.849G>A (p.Met283Ile) single nucleotide variant Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV001248108] ChrX:77841298 [GRCh38]
ChrX:77096795 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001367916.1(MAGT1):c.948G>A (p.Trp316Ter) single nucleotide variant Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV001253584] ChrX:77830849 [GRCh38]
ChrX:77086346 [GRCh37]
ChrX:Xq21.1
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
NM_032121.5(MAGT1):c.71C>A (p.Ser24Ter) single nucleotide variant Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV001317407] ChrX:77895436 [GRCh38]
ChrX:77150933 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001367916.1(MAGT1):c.-3A>G single nucleotide variant Congenital disorder of glycosylation, type ICC [RCV001291763] ChrX:77895413 [GRCh38]
ChrX:77150910 [GRCh37]
ChrX:Xq21.1
uncertain significance
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_001367916.1(MAGT1):c.753G>A (p.Thr251=) single nucleotide variant Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV001349523] ChrX:77855510 [GRCh38]
ChrX:77111007 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001367916.1(MAGT1):c.89A>G (p.Gln30Arg) single nucleotide variant Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV001343018] ChrX:77895322 [GRCh38]
ChrX:77150819 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_001367916.1(MAGT1):c.148A>G (p.Lys50Glu) single nucleotide variant Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV001350834] ChrX:77875552 [GRCh38]
ChrX:77131049 [GRCh37]
ChrX:Xq21.1
uncertain significance
NC_000023.10:g.(?_77150786)_(77151023_?)dup duplication Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV001325668] ChrX:77150786..77151023 [GRCh37]
ChrX:Xq21.1
uncertain significance
NC_000023.10:g.(?_77084717)_(77131114_?)dup duplication Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV001339825] ChrX:77084717..77131114 [GRCh37]
ChrX:Xq21.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28880 AgrOrtholog
COSMIC MAGT1 COSMIC
Ensembl Genes ENSG00000102158 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000354649 UniProtKB/TrEMBL
  ENSP00000362433 UniProtKB/Swiss-Prot
  ENSP00000478379 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000480732 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000358075 UniProtKB/TrEMBL
  ENST00000373336 UniProtKB/Swiss-Prot
  ENST00000610432 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000618282 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.30.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000102158 GTEx
HGNC ID HGNC:28880 ENTREZGENE
Human Proteome Map MAGT1 Human Proteome Map
InterPro Mg_transporter-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OligosaccharylTrfase_OST3/OST6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thioredoxin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84061 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 84061 ENTREZGENE
OMIM 300715 OMIM
  300716 OMIM
  300853 OMIM
  301031 OMIM
PANTHER PTHR12692 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12692:SF2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam OST3_OST6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162394900 PharmGKB
Superfamily-SCOP SSF52833 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WU53 ENTREZGENE, UniProtKB/TrEMBL
  MAGT1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2RAR4 UniProtKB/Swiss-Prot
  D3DTE3 UniProtKB/Swiss-Prot
  Q53G00 UniProtKB/Swiss-Prot
  Q6P577 UniProtKB/Swiss-Prot
  Q8NBN6 UniProtKB/Swiss-Prot