XK (X-linked Kx blood group) - Rat Genome Database

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Gene: XK (X-linked Kx blood group) Homo sapiens
Analyze
Symbol: XK
Name: X-linked Kx blood group
RGD ID: 1351512
HGNC Page HGNC
Description: Predicted to be involved in several processes, including cellular divalent inorganic cation homeostasis; regulation of axon diameter; and skeletal muscle fiber development. Predicted to localize to integral component of membrane and plasma membrane. Implicated in McLeod syndrome and hematopoietic system disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: Kell blood group precursor (McLeod phenotype); kell complex 37 kDa component; KX; Kx antigen; Kx blood group antigen; MCLDS; membrane transport protein XK; NA; NAC; neuroacanthocytosis; neurocanthocytosis; truncated X-linked Kx blood group; X1k; XK, Kell blood group complex subunit (McLeod syndrome); XK-related protein 1; XKR1
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 EnsemblX37,685,791 - 37,732,130 (+)EnsemblGRCh38hg38GRCh38
GRCh38X37,685,686 - 37,732,130 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X37,545,044 - 37,591,383 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X37,430,052 - 37,476,322 (+)NCBINCBI36hg18NCBI36
Build 34X37,301,324 - 37,347,594NCBI
CeleraX41,682,795 - 41,729,061 (+)NCBI
Cytogenetic MapXp21.1NCBI
HuRefX35,290,888 - 35,336,107 (+)NCBIHuRef
CHM1_1X37,576,264 - 37,622,522 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:871435   PMID:1191546   PMID:3358422   PMID:7737196   PMID:8619554   PMID:9074432   PMID:9593744   PMID:9647734   PMID:9784384   PMID:10426139   PMID:10556484   PMID:10849386  
PMID:11261514   PMID:11703337   PMID:11761473   PMID:11961232   PMID:12477932   PMID:12775719   PMID:12823753   PMID:15107016   PMID:15489334   PMID:17081983   PMID:17302777   PMID:17379193  
PMID:17469188   PMID:19322201   PMID:19380743   PMID:20301334   PMID:20301528   PMID:21145924   PMID:21463873   PMID:21988832   PMID:24635891   PMID:24816235   PMID:26308465  


Genomics

Comparative Map Data
XK
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX37,685,791 - 37,732,130 (+)EnsemblGRCh38hg38GRCh38
GRCh38X37,685,686 - 37,732,130 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X37,545,044 - 37,591,383 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X37,430,052 - 37,476,322 (+)NCBINCBI36hg18NCBI36
Build 34X37,301,324 - 37,347,594NCBI
CeleraX41,682,795 - 41,729,061 (+)NCBI
Cytogenetic MapXp21.1NCBI
HuRefX35,290,888 - 35,336,107 (+)NCBIHuRef
CHM1_1X37,576,264 - 37,622,522 (+)NCBICHM1_1
Xk
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X9,139,023 - 9,179,484 (+)NCBIGRCm39mm39
GRCm39 EnsemblX9,138,995 - 9,179,489 (+)Ensembl
GRCm38X9,272,784 - 9,313,245 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX9,272,756 - 9,313,250 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X8,849,910 - 8,890,371 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X8,429,873 - 8,468,132 (+)NCBImm8
CeleraX7,012,285 - 7,052,336 (+)NCBICelera
Cytogenetic MapXA1.1NCBI
cM MapX4.22NCBI
Xk
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X13,436,412 - 13,472,830 (-)NCBI
Rnor_6.0 EnsemblX14,498,119 - 14,534,473 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X14,497,376 - 14,534,479 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X15,278,669 - 15,315,169 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X25,591,152 - 25,624,913 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X25,644,621 - 25,678,382 (-)NCBI
CeleraX13,951,523 - 13,985,552 (+)NCBICelera
Cytogenetic MapXq12NCBI
Xk
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955587668,070 - 728,959 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955587668,871 - 725,829 (+)NCBIChiLan1.0ChiLan1.0
XK
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X37,846,539 - 37,892,348 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX37,846,539 - 37,892,348 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X30,136,046 - 30,182,541 (+)NCBIMhudiblu_PPA_v0panPan3
XK
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X32,453,404 - 32,498,145 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX32,453,570 - 32,495,110 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX19,801,126 - 19,845,752 (+)NCBI
ROS_Cfam_1.0X32,491,214 - 32,543,437 (+)NCBI
UMICH_Zoey_3.1X32,578,961 - 32,624,840 (+)NCBI
UNSW_CanFamBas_1.0X32,544,040 - 32,588,642 (+)NCBI
UU_Cfam_GSD_1.0X32,592,018 - 32,636,881 (+)NCBI
Xk
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X24,691,389 - 24,745,510 (+)NCBI
SpeTri2.0NW_0049365024,532,100 - 4,584,931 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
XK
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX33,544,730 - 33,602,574 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X33,544,287 - 33,602,576 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X37,205,690 - 37,263,628 (+)NCBISscrofa10.2Sscrofa10.2susScr3
XK
(Chlorocebus sabaeus - African green monkey)
No map positions available.
Xk
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476217,856,746 - 17,915,975 (-)NCBI

Position Markers
SHGC-82907  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X37,562,296 - 37,562,578UniSTSGRCh37
Build 36X37,447,235 - 37,447,517RGDNCBI36
CeleraX41,699,974 - 41,700,256RGD
Cytogenetic MapXp21.1UniSTS
HuRefX35,307,257 - 35,307,539UniSTS
TNG Radiation Hybrid MapX9898.0UniSTS
GDB:373292  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X37,553,368 - 37,553,992UniSTSGRCh37
Build 36X37,438,307 - 37,438,931RGDNCBI36
CeleraX41,691,046 - 41,691,670RGD
Cytogenetic MapXp21.1UniSTS
HuRefX35,298,677 - 35,299,301UniSTS
GDB:373297  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X37,586,758 - 37,587,974UniSTSGRCh37
Build 36X37,471,697 - 37,472,913RGDNCBI36
CeleraX41,724,436 - 41,725,652RGD
Cytogenetic MapXp21.1UniSTS
HuRefX35,331,482 - 35,332,698UniSTS
DXS6997E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X37,591,240 - 37,591,312UniSTSGRCh37
Build 36X37,476,179 - 37,476,251RGDNCBI36
CeleraX41,728,918 - 41,728,990RGD
Cytogenetic MapXp21.1UniSTS
HuRefX35,335,964 - 35,336,036UniSTS
GeneMap99-GB4 RH MapX112.31UniSTS
XK__4911  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X37,590,596 - 37,591,511UniSTSGRCh37
Build 36X37,475,535 - 37,476,450RGDNCBI36
CeleraX41,728,274 - 41,729,189RGD
HuRefX35,335,320 - 35,336,235UniSTS
GDB:373289  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X37,545,203 - 37,545,633UniSTSGRCh37
CeleraX41,682,865 - 41,683,295UniSTS
Cytogenetic MapXp21.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1284
Count of miRNA genes:801
Interacting mature miRNAs:920
Transcripts:ENST00000378616
Prediction methods:Miranda
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 613 88 20 19 119 20 47 57 160 4 65 50 46
Low 1797 2706 1324 373 1148 214 3062 2011 2718 209 1242 1402 172 1 235 2201 4 2
Below cutoff 23 194 362 216 403 215 1218 119 839 168 142 144 1 963 541

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB214532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC233292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC233297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY534238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY655133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY655134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY655135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ062746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB659844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM821167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY926705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY939773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC543982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT838807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT838808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH727540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH727541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH729875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH730936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z32684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000378616   ⟹   ENSP00000367879
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX37,685,791 - 37,732,130 (+)Ensembl
RefSeq Acc Id: NM_021083   ⟹   NP_066569
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X37,685,791 - 37,732,130 (+)NCBI
GRCh37X37,545,133 - 37,591,383 (+)ENTREZGENE
Build 36X37,430,052 - 37,476,322 (+)NCBI Archive
HuRefX35,290,888 - 35,336,107 (+)ENTREZGENE
CHM1_1X37,576,264 - 37,622,522 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011543978   ⟹   XP_011542280
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X37,685,686 - 37,704,307 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_066569   ⟸   NM_021083
- Peptide Label: precursor
- UniProtKB: P51811 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011542280   ⟸   XM_011543978
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000367879   ⟸   ENST00000378616

Promoters
RGD ID:6809411
Promoter ID:HG_KWN:66410
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000080875
Position:
Human AssemblyChrPosition (strand)Source
Build 36X37,429,626 - 37,430,142 (+)MPROMDB
RGD ID:13605020
Promoter ID:EPDNEW_H28694
Type:initiation region
Name:XK_1
Description:X-linked Kx blood group
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28695  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X37,685,791 - 37,685,851EPDNEW
RGD ID:13605022
Promoter ID:EPDNEW_H28695
Type:multiple initiation site
Name:XK_2
Description:X-linked Kx blood group
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28694  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X37,731,707 - 37,731,767EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_021083.4(XK):c.508+1G>A single nucleotide variant McLeod neuroacanthocytosis syndrome [RCV000010418] ChrX:37694549 [GRCh38]
ChrX:37553802 [GRCh37]
ChrX:Xp21.1
pathogenic
NM_021083.4(XK):c.509-1G>A single nucleotide variant McLeod neuroacanthocytosis syndrome [RCV000010419] ChrX:37727635 [GRCh38]
ChrX:37586888 [GRCh37]
ChrX:Xp21.1
pathogenic
XK, 1-BP DEL deletion McLeod neuroacanthocytosis syndrome [RCV000010420] ChrX:Xp21.2-p21.1 pathogenic
NM_021083.4(XK):c.1013del (p.Phe338fs) deletion McLeod neuroacanthocytosis syndrome [RCV000010421] ChrX:37728137 [GRCh38]
ChrX:37587390 [GRCh37]
ChrX:Xp21.1
pathogenic
NM_021083.4(XK):c.880T>C (p.Cys294Arg) single nucleotide variant McLeod neuroacanthocytosis syndrome [RCV000010422] ChrX:37728007 [GRCh38]
ChrX:37587260 [GRCh37]
ChrX:Xp21.1
pathogenic
XK, 13-BP DEL deletion McLeod neuroacanthocytosis syndrome [RCV000010423] ChrX:Xp21.2-p21.1 pathogenic
NM_021083.4(XK):c.941G>A (p.Trp314Ter) single nucleotide variant McLeod neuroacanthocytosis syndrome [RCV000010424] ChrX:37728068 [GRCh38]
ChrX:37587321 [GRCh37]
ChrX:Xp21.1
pathogenic
NM_021083.4(XK):c.895C>T (p.Gln299Ter) single nucleotide variant McLeod neuroacanthocytosis syndrome [RCV000010425] ChrX:37728022 [GRCh38]
ChrX:37587275 [GRCh37]
ChrX:Xp21.1
pathogenic
NM_021083.2(XK):c.245+750A>T single nucleotide variant Lung cancer [RCV000102588] ChrX:37686956 [GRCh38]
ChrX:37546209 [GRCh37]
ChrX:Xp21.1
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.11-11.4(chrX:22420237-38834728)x1 copy number loss See cases [RCV000053063] ChrX:22420237..38834728 [GRCh38]
ChrX:22438354..38693981 [GRCh37]
ChrX:22348275..38578925 [NCBI36]
ChrX:Xp22.11-11.4
pathogenic
GRCh38/hg38 Xp21.1-11.4(chrX:31665506-37921988)x0 copy number loss See cases [RCV000053080] ChrX:31665506..37921988 [GRCh38]
ChrX:31683623..37781241 [GRCh37]
ChrX:31593544..37666185 [NCBI36]
ChrX:Xp21.1-11.4
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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)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: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:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-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 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 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 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 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 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp21.1-11.4(chrX:37723259-38263335)x2 copy number gain See cases [RCV000136935] ChrX:37723259..38263335 [GRCh38]
ChrX:37669767..38122588 [GRCh37]
ChrX:37467451..38007532 [NCBI36]
ChrX:Xp21.1-11.4
uncertain significance
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 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp21.1-11.4(chrX:37564515-37871920)x2 copy number gain See cases [RCV000137210] ChrX:37564515..37871920 [GRCh38]
ChrX:37308687..37616117 [NCBI36]
ChrX:Xp21.1-11.4
benign
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp21.3-11.4(chrX:28234352-37850186)x3 copy number gain See cases [RCV000138078] ChrX:28234352..37850186 [GRCh38]
ChrX:28252469..37709439 [GRCh37]
ChrX:28162390..37594383 [NCBI36]
ChrX:Xp21.3-11.4
likely pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp21.1(chrX:37581547-37703226)x2 copy number gain See cases [RCV000138242] ChrX:37581547..37703226 [GRCh38]
ChrX:37325721..37447418 [NCBI36]
ChrX:Xp21.1
uncertain significance
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp21.3-11.4(chrX:28218244-37855706)x3 copy number gain See cases [RCV000143685] ChrX:28218244..37855706 [GRCh38]
ChrX:28236361..37714959 [GRCh37]
ChrX:28146282..37599903 [NCBI36]
ChrX:Xp21.3-11.4
uncertain significance
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 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-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 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
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:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [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
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp21.1-11.3(chrX:36667388-44316141)x1 copy number loss See cases [RCV000446005] ChrX:36667388..44316141 [GRCh37]
ChrX:Xp21.1-11.3
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 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp21.1-11.4(chrX:37584811-38467647)x2 copy number gain See cases [RCV000510479] ChrX:37584811..38467647 [GRCh37]
ChrX:Xp21.1-11.4
uncertain significance
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 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
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 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_021083.4(XK):c.1015A>T (p.Lys339Ter) single nucleotide variant Inborn genetic diseases [RCV000622910] ChrX:37728142 [GRCh38]
ChrX:37587395 [GRCh37]
ChrX:Xp21.1
pathogenic|likely pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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
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
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp21.1-11.3(chrX:32849282-43713387)x1 copy number loss not provided [RCV001007291] ChrX:32849282..43713387 [GRCh37]
ChrX:Xp21.1-11.3
pathogenic
NM_021083.4(XK):c.765C>T (p.Leu255=) single nucleotide variant not provided [RCV000927427] ChrX:37727892 [GRCh38]
ChrX:37587145 [GRCh37]
ChrX:Xp21.1
likely benign
NM_021083.4(XK):c.450C>G (p.Pro150=) single nucleotide variant not provided [RCV000923625] ChrX:37694490 [GRCh38]
ChrX:37553743 [GRCh37]
ChrX:Xp21.1
likely benign
NM_021083.4(XK):c.1108T>G (p.Tyr370Asp) single nucleotide variant not provided [RCV000861539] ChrX:37728235 [GRCh38]
ChrX:37587488 [GRCh37]
ChrX:Xp21.1
benign
NM_021083.4(XK):c.492C>T (p.Asp164=) single nucleotide variant not provided [RCV000918238] ChrX:37694532 [GRCh38]
ChrX:37553785 [GRCh37]
ChrX:Xp21.1
benign
NM_021083.4(XK):c.417G>T (p.Ala139=) single nucleotide variant not provided [RCV000921105] ChrX:37694457 [GRCh38]
ChrX:37553710 [GRCh37]
ChrX:Xp21.1
likely benign
NM_021083.4(XK):c.617T>C (p.Leu206Pro) single nucleotide variant not provided [RCV000982740] ChrX:37727744 [GRCh38]
ChrX:37586997 [GRCh37]
ChrX:Xp21.1
benign
NM_021083.4(XK):c.150C>T (p.Leu50=) single nucleotide variant not provided [RCV000860843] ChrX:37686111 [GRCh38]
ChrX:37545364 [GRCh37]
ChrX:Xp21.1
benign
GRCh37/hg19 Xp21.1(chrX:37448237-37568108)x3 copy number gain not provided [RCV000849168] ChrX:37448237..37568108 [GRCh37]
ChrX:Xp21.1
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 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp21.1(chrX:37448237-37563710)x2 copy number gain not provided [RCV000846285] ChrX:37448237..37563710 [GRCh37]
ChrX:Xp21.1
uncertain significance
NM_021083.4(XK):c.412C>T (p.Arg138Trp) single nucleotide variant not provided [RCV001245691] ChrX:37694452 [GRCh38]
ChrX:37553705 [GRCh37]
ChrX:Xp21.1
uncertain significance
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_021083.4(XK):c.1221G>A (p.Pro407=) single nucleotide variant not provided [RCV000861202] ChrX:37728348 [GRCh38]
ChrX:37587601 [GRCh37]
ChrX:Xp21.1
benign
Single allele deletion Retinitis pigmentosa 15 [RCV001251576] ChrX:35820200..38547007 [GRCh37]
ChrX:Xp21.1-11.4
pathogenic
GRCh37/hg19 Xp21.1-11.4(chrX:37472900-37879310)x2 copy number gain not provided [RCV001007295] ChrX:37472900..37879310 [GRCh37]
ChrX:Xp21.1-11.4
uncertain significance
NC_000023.10:g.(?_30326313)_(41000684_?)del deletion Ornithine carbamoyltransferase deficiency [RCV001033914] ChrX:30326313..41000684 [GRCh37]
ChrX:Xp21.2-11.4
pathogenic
GRCh37/hg19 Xp21.1-11.4(chrX:37487291-38568933)x3 copy number gain not provided [RCV001258967] ChrX:37487291..38568933 [GRCh37]
ChrX:Xp21.1-11.4
uncertain significance
GRCh37/hg19 Xp21.1(chrX:37221175-37549799)x3 copy number gain not provided [RCV001258966] ChrX:37221175..37549799 [GRCh37]
ChrX:Xp21.1
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12811 AgrOrtholog
COSMIC XK COSMIC
Ensembl Genes ENSG00000047597 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000367879 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000378616 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000047597 GTEx
HGNC ID HGNC:12811 ENTREZGENE
Human Proteome Map XK Human Proteome Map
InterPro XK-rel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7504 UniProtKB/Swiss-Prot
NCBI Gene 7504 ENTREZGENE
OMIM 300842 OMIM
  314850 OMIM
Pfam XK-related UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37410 PharmGKB
UniProt A0A0A1E0F2_HUMAN UniProtKB/TrEMBL
  A0A221C5P1_HUMAN UniProtKB/TrEMBL
  A0A2R3WH08_HUMAN UniProtKB/TrEMBL
  A0A346FY29_HUMAN UniProtKB/TrEMBL
  P51811 ENTREZGENE
  Q2Z218_HUMAN UniProtKB/TrEMBL
  XK_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q4TTN6 UniProtKB/Swiss-Prot
  Q8IUK6 UniProtKB/Swiss-Prot
  Q9UC77 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-06-24 XK  X-linked Kx blood group    X-linked Kx blood group (McLeod syndrome)  Symbol and/or name change 5135510 APPROVED
2011-08-16 XK  X-linked Kx blood group (McLeod syndrome)  XK  X-linked Kx blood group (McLeod syndrome)  Symbol and/or name change 5135510 APPROVED