NRK (Nik related kinase) - Rat Genome Database

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Gene: NRK (Nik related kinase) Homo sapiens
Analyze
Symbol: NRK
Name: Nik related kinase
RGD ID: 1344667
HGNC Page HGNC:25391
Description: Predicted to enable protein kinase activity. Predicted to be involved in positive regulation of JNK cascade. Predicted to act upstream of or within negative regulation of cell population proliferation; parturition; and regulation of spongiotrophoblast cell proliferation. Predicted to be located in membrane. Predicted to be active in cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp686A17109; FLJ16788; MGC131849; NESK; nik-related protein kinase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X105,821,786 - 105,958,610 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX105,822,539 - 105,958,610 (+)EnsemblGRCh38hg38GRCh38
GRCh37X105,066,532 - 105,202,602 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X104,953,192 - 105,089,258 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X104,872,680 - 105,008,744NCBI
CeleraX105,541,018 - 105,677,081 (+)NCBICelera
Cytogenetic MapXq22.3NCBI
HuRefX94,691,867 - 94,829,421 (+)NCBIHuRef
CHM1_1X104,977,838 - 105,113,888 (+)NCBICHM1_1
T2T-CHM13v2.0X104,253,759 - 104,390,422 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytosol  (IBA)
membrane  (IEA)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11076863   PMID:11230166   PMID:12477932   PMID:12837278   PMID:14702039   PMID:15489334   PMID:15489336   PMID:15772651   PMID:16381901   PMID:21873635   PMID:27634343   PMID:30639242  
PMID:31741433   PMID:31797533   PMID:32162334   PMID:33387038   PMID:36736316   PMID:38459501  


Genomics

Comparative Map Data
NRK
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X105,821,786 - 105,958,610 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX105,822,539 - 105,958,610 (+)EnsemblGRCh38hg38GRCh38
GRCh37X105,066,532 - 105,202,602 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X104,953,192 - 105,089,258 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X104,872,680 - 105,008,744NCBI
CeleraX105,541,018 - 105,677,081 (+)NCBICelera
Cytogenetic MapXq22.3NCBI
HuRefX94,691,867 - 94,829,421 (+)NCBIHuRef
CHM1_1X104,977,838 - 105,113,888 (+)NCBICHM1_1
T2T-CHM13v2.0X104,253,759 - 104,390,422 (+)NCBIT2T-CHM13v2.0
Nrk
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X137,814,980 - 137,911,281 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX137,815,179 - 137,911,281 (+)EnsemblGRCm39 Ensembl
GRCm38X138,914,231 - 139,010,532 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX138,914,430 - 139,010,532 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X135,448,969 - 135,543,631 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X134,260,869 - 134,354,417 (+)NCBIMGSCv36mm8
CeleraX122,184,305 - 122,278,072 (+)NCBICelera
Cytogenetic MapXF1NCBI
cM MapX61.15NCBI
Nrk
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X107,159,154 - 107,256,417 (+)NCBIGRCr8
mRatBN7.2X102,365,765 - 102,462,957 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX102,365,765 - 102,459,657 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX104,503,462 - 104,597,032 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X108,002,202 - 108,095,770 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X105,571,175 - 105,664,734 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X110,065,199 - 110,089,124 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0X109,940,439 - 110,036,361 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX109,940,350 - 110,033,085 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X109,798,013 - 109,890,635 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0X109,913,500 - 109,944,079 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X126,448,334 - 126,541,575 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
CeleraX103,155,670 - 103,249,235 (+)NCBICelera
Cytogenetic MapXq32NCBI
Nrk
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555482,675,645 - 2,797,548 (+)NCBIChiLan1.0ChiLan1.0
NRK
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X105,340,811 - 105,477,642 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X105,344,411 - 105,481,238 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X94,957,923 - 95,094,749 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X105,337,040 - 105,473,338 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX105,337,327 - 105,470,331 (+)Ensemblpanpan1.1panPan2
NRK
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X79,341,449 - 79,488,046 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX79,341,412 - 79,485,661 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX65,486,392 - 65,633,192 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X80,973,839 - 81,118,252 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX80,973,793 - 81,117,892 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X78,456,281 - 78,603,092 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X80,152,102 - 80,292,152 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X79,935,837 - 80,082,696 (+)NCBIUU_Cfam_GSD_1.0
Nrk
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X78,909,811 - 79,031,463 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049364998,629,563 - 8,747,858 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NRK
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX86,534,488 - 86,663,337 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X86,534,467 - 86,663,340 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X100,896,640 - 101,021,685 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NRK
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X93,688,895 - 93,822,776 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX93,689,023 - 93,825,346 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606518,696,953 - 18,832,336 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nrk
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462480310,719,694 - 10,861,120 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NRK
87 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|likely pathogenic|conflicting data from submitters
NM_198465.3(NRK):c.57+2634C>A single nucleotide variant Lung cancer [RCV000102156] ChrX:105825536 [GRCh38]
ChrX:105069529 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.3(NRK):c.580+1217G>C single nucleotide variant Lung cancer [RCV000102157] ChrX:105896740 [GRCh38]
ChrX:105140733 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.3(NRK):c.4513+665C>T single nucleotide variant Lung cancer [RCV000102158] ChrX:105950399 [GRCh38]
ChrX:105194391 [GRCh37]
ChrX:Xq22.3		 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:10679-156022206)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 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xq21.1-23(chrX:77544283-110500317)x1 copy number loss See cases [RCV000051668] ChrX:77544283..110500317 [GRCh38]
ChrX:76799762..109743545 [GRCh37]
ChrX:76686418..109630201 [NCBI36]
ChrX:Xq21.1-23		 pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28		 pathogenic
GRCh38/hg38 Xq22.1-22.3(chrX:101407698-106274188)x1 copy number loss See cases [RCV000051715] ChrX:101407698..106274188 [GRCh38]
ChrX:100772737..105517404 [GRCh37]
ChrX:100549342..105404060 [NCBI36]
ChrX:Xq22.1-22.3		 pathogenic
GRCh38/hg38 Xq22.1-22.3(chrX:102070552-108264804)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051716]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051716]|See cases [RCV000051716] ChrX:102070552..108264804 [GRCh38]
ChrX:101325524..107508034 [GRCh37]
ChrX:101212180..107394690 [NCBI36]
ChrX:Xq22.1-22.3		 pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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: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: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 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25		 pathogenic
GRCh38/hg38 Xq21.31-22.3(chrX:89372737-106174548)x3 copy number gain See cases [RCV000052440] ChrX:89372737..106174548 [GRCh38]
ChrX:88627736..105418541 [GRCh37]
ChrX:88514392..105305197 [NCBI36]
ChrX:Xq21.31-22.3		 pathogenic
GRCh38/hg38 Xq22.1-22.3(chrX:101620923-107632397)x3 copy number gain See cases [RCV000052441] ChrX:101620923..107632397 [GRCh38]
ChrX:100875913..106875627 [GRCh37]
ChrX:100762569..106762283 [NCBI36]
ChrX:Xq22.1-22.3		 pathogenic
GRCh38/hg38 Xq22.3(chrX:105891235-106425782)x2 copy number gain See cases [RCV000052442] ChrX:105891235..106425782 [GRCh38]
ChrX:105135228..105669012 [GRCh37]
ChrX:105021884..105555668 [NCBI36]
ChrX:Xq22.3		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_198465.3(NRK):c.253G>A (p.Asp85Asn) single nucleotide variant Malignant melanoma [RCV000073022] ChrX:105888294 [GRCh38]
ChrX:105132287 [GRCh37]
ChrX:105018943 [NCBI36]
ChrX:Xq22.3		 not provided
NM_198465.3(NRK):c.2358G>A (p.Glu786=) single nucleotide variant Malignant melanoma [RCV000073023] ChrX:105915738 [GRCh38]
ChrX:105159730 [GRCh37]
ChrX:105046386 [NCBI36]
ChrX:Xq22.3		 not provided
NM_198465.3(NRK):c.4294G>A (p.Gly1432Arg) single nucleotide variant Malignant melanoma [RCV000073024] ChrX:105946405 [GRCh38]
ChrX:105190397 [GRCh37]
ChrX:105077053 [NCBI36]
ChrX:Xq22.3		 not provided
NM_198465.3(NRK):c.4295G>A (p.Gly1432Glu) single nucleotide variant Malignant melanoma [RCV000073025] ChrX:105946406 [GRCh38]
ChrX:105190398 [GRCh37]
ChrX:105077054 [NCBI36]
ChrX:Xq22.3		 not provided
NM_198465.3(NRK):c.4383C>T (p.Ile1461=) single nucleotide variant Malignant melanoma [RCV000073026] ChrX:105949604 [GRCh38]
ChrX:105193596 [GRCh37]
ChrX:105080252 [NCBI36]
ChrX:Xq22.3		 not provided
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.32-23(chrX:91829757-113050225)x1 copy number loss Xq21.32q23 deletion [RCV001579312] ChrX:91829757..113050225 [GRCh37]
ChrX:Xq21.32-23		 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)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 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28		 pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq22.1-23(chrX:100597687-111651116)x4 copy number gain See cases [RCV000136029] ChrX:100597687..111651116 [GRCh38]
ChrX:99852684..110894344 [GRCh37]
ChrX:99739340..110781000 [NCBI36]
ChrX:Xq22.1-23		 pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28		 pathogenic
GRCh38/hg38 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 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28		 pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic|likely benign
GRCh38/hg38 Xq21.32-23(chrX:93591590-112530092)x3 copy number gain See cases [RCV000139204] ChrX:93591590..112530092 [GRCh38]
ChrX:92846589..111773320 [GRCh37]
ChrX:92733245..111659976 [NCBI36]
ChrX:Xq21.32-23		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28		 pathogenic
GRCh38/hg38 Xq22.3(chrX:105915695-106378058)x3 copy number gain See cases [RCV000141618] ChrX:105915695..106378058 [GRCh38]
ChrX:105159687..105621288 [GRCh37]
ChrX:105046343..105507944 [NCBI36]
ChrX:Xq22.3		 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 Xq21.1-23(chrX:81109470-109442793)x1 copy number loss See cases [RCV000142372] ChrX:81109470..109442793 [GRCh38]
ChrX:80364969..108686022 [GRCh37]
ChrX:80251625..108572678 [NCBI36]
ChrX:Xq21.1-23		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 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 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24		 pathogenic
GRCh37/hg19 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: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)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 Xp22.33-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 Xp22.2-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-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 Xq22.3(chrX:105137256-105666666)x3 copy number gain See cases [RCV000449199] ChrX:105137256..105666666 [GRCh37]
ChrX:Xq22.3		 uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1		 pathogenic
GRCh37/hg19 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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-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-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [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 Xq22.3(chrX:105098359-105625090) copy number gain Abnormal esophagus morphology [RCV000416805] ChrX:105098359..105625090 [GRCh37]
ChrX:Xq22.3		 likely benign
GRCh37/hg19 Xq22.2-23(chrX:103158718-111556067)x2 copy number gain See cases [RCV000448592] ChrX:103158718..111556067 [GRCh37]
ChrX:Xq22.2-23		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq21.31-23(chrX:86776682-114054291)x1 copy number loss See cases [RCV000511514] ChrX:86776682..114054291 [GRCh37]
ChrX:Xq21.31-23		 pathogenic|uncertain significance
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28		 pathogenic|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 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
NM_198465.4(NRK):c.1673A>G (p.Gln558Arg) single nucleotide variant not specified [RCV004291052] ChrX:105909314 [GRCh38]
ChrX:105153306 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.2569C>T (p.Pro857Ser) single nucleotide variant not specified [RCV004291605] ChrX:105922020 [GRCh38]
ChrX:105166012 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.4067T>C (p.Ile1356Thr) single nucleotide variant not specified [RCV004312334] ChrX:105945879 [GRCh38]
ChrX:105189871 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.1331G>C (p.Arg444Pro) single nucleotide variant not specified [RCV004308054] ChrX:105908972 [GRCh38]
ChrX:105152964 [GRCh37]
ChrX:Xq22.3		 uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28		 uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28		 pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28		 pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq22.3(chrX:105152282-105639481)x2 copy number gain not provided [RCV000753696] ChrX:105152282..105639481 [GRCh37]
ChrX:Xq22.3		 benign
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele duplication Autism [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
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3		 pathogenic
NM_198465.4(NRK):c.802G>A (p.Val268Ile) single nucleotide variant not specified [RCV004288331] ChrX:105905300 [GRCh38]
ChrX:105149293 [GRCh37]
ChrX:Xq22.3		 uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
NM_198465.4(NRK):c.3838T>C (p.Leu1280=) single nucleotide variant not provided [RCV000884350] ChrX:105939912 [GRCh38]
ChrX:105183904 [GRCh37]
ChrX:Xq22.3		 benign
NM_198465.4(NRK):c.1313G>A (p.Arg438Gln) single nucleotide variant not provided [RCV000901861] ChrX:105908954 [GRCh38]
ChrX:105152946 [GRCh37]
ChrX:Xq22.3		 benign
NM_198465.4(NRK):c.4154T>C (p.Val1385Ala) single nucleotide variant not provided [RCV000902271]|not specified [RCV004028524] ChrX:105945966 [GRCh38]
ChrX:105189958 [GRCh37]
ChrX:Xq22.3		 likely benign
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_198465.4(NRK):c.1104C>T (p.His368=) single nucleotide variant not provided [RCV000896939] ChrX:105908745 [GRCh38]
ChrX:105152737 [GRCh37]
ChrX:Xq22.3		 benign
NM_198465.4(NRK):c.4707A>G (p.Thr1569=) single nucleotide variant not provided [RCV000925376] ChrX:105955558 [GRCh38]
ChrX:105199550 [GRCh37]
ChrX:Xq22.3		 likely benign
NM_198465.4(NRK):c.2365C>T (p.Pro789Ser) single nucleotide variant not provided [RCV000964271] ChrX:105915745 [GRCh38]
ChrX:105159737 [GRCh37]
ChrX:Xq22.3		 benign
NM_198465.4(NRK):c.3392A>G (p.Asn1131Ser) single nucleotide variant not provided [RCV000962801] ChrX:105934337 [GRCh38]
ChrX:105178329 [GRCh37]
ChrX:Xq22.3		 benign
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1 copy number loss See cases [RCV002285075] ChrX:77670699..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq22.1-22.3(chrX:102066350-105409822)x1 copy number loss Early Onset Neurological Disease Trait [RCV000993774] ChrX:102066350..105409822 [GRCh37]
ChrX:Xq22.1-22.3		 pathogenic
GRCh37/hg19 Xq22.1-22.3(chrX:101029649-106702784)x1 copy number loss Early Onset Neurological Disease Trait [RCV000993775] ChrX:101029649..106702784 [GRCh37]
ChrX:Xq22.1-22.3		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28		 uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28		 pathogenic
NM_198465.4(NRK):c.157G>A (p.Val53Ile) single nucleotide variant not specified [RCV004311683] ChrX:105880232 [GRCh38]
ChrX:105124225 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.3356G>C (p.Gly1119Ala) single nucleotide variant not specified [RCV004289249] ChrX:105934301 [GRCh38]
ChrX:105178293 [GRCh37]
ChrX:Xq22.3		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_198465.4(NRK):c.2458A>G (p.Ile820Val) single nucleotide variant not specified [RCV004282285] ChrX:105917618 [GRCh38]
ChrX:105161610 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.3281C>A (p.Pro1094His) single nucleotide variant not specified [RCV004305089] ChrX:105925000 [GRCh38]
ChrX:105168992 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.1351G>T (p.Ala451Ser) single nucleotide variant not specified [RCV004300940] ChrX:105908992 [GRCh38]
ChrX:105152984 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.1992C>A (p.Thr664=) single nucleotide variant not provided [RCV000931785] ChrX:105909633 [GRCh38]
ChrX:105153625 [GRCh37]
ChrX:Xq22.3		 likely benign
GRCh37/hg19 Xq22.1-22.3(chrX:102436725-105520605)x1 copy number loss Early Onset Neurological Disease Trait [RCV000993773] ChrX:102436725..105520605 [GRCh37]
ChrX:Xq22.1-22.3		 uncertain significance
GRCh37/hg19 Xq22.3(chrX:104728884-105652106)x0 copy number loss not provided [RCV001007331] ChrX:104728884..105652106 [GRCh37]
ChrX:Xq22.3		 pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28		 pathogenic
GRCh37/hg19 Xq22.3(chrX:105137256-105661848)x3 copy number gain not provided [RCV001259488] ChrX:105137256..105661848 [GRCh37]
ChrX:Xq22.3		 likely benign
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq22.3-23(chrX:104782507-112949573)x2 copy number gain not provided [RCV001795543] ChrX:104782507..112949573 [GRCh37]
ChrX:Xq22.3-23		 likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq22.2-23(chrX:103158718-111556067) copy number gain not specified [RCV002053170] ChrX:103158718..111556067 [GRCh37]
ChrX:Xq22.2-23		 pathogenic
GRCh37/hg19 Xq22.3(chrX:105137256-105666666) copy number gain not specified [RCV002053171] ChrX:105137256..105666666 [GRCh37]
ChrX:Xq22.3		 uncertain significance
GRCh37/hg19 Xq22.1-24(chrX:101982475-116885339) copy number gain not specified [RCV002053166] ChrX:101982475..116885339 [GRCh37]
ChrX:Xq22.1-24		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq22.3(chrX:105066840-106486528) copy number loss Primary ciliary dyskinesia [RCV003236732] ChrX:105066840..106486528 [GRCh37]
ChrX:Xq22.3		 likely pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) copy number loss Turner syndrome [RCV002280672] ChrX:62685885..155233731 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_198465.4(NRK):c.4015T>C (p.Tyr1339His) single nucleotide variant not specified [RCV004328876] ChrX:105943997 [GRCh38]
ChrX:105187989 [GRCh37]
ChrX:Xq22.3		 uncertain significance
GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3 copy number gain not provided [RCV002291535] ChrX:76794355..119282836 [GRCh37]
ChrX:Xq21.1-24		 pathogenic
GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1 copy number loss not provided [RCV002474518] ChrX:93805850..118913329 [GRCh37]
ChrX:Xq21.33-24		 pathogenic
NM_198465.4(NRK):c.2592G>T (p.Lys864Asn) single nucleotide variant not specified [RCV004113594] ChrX:105922043 [GRCh38]
ChrX:105166035 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.2701C>T (p.Arg901Trp) single nucleotide variant not specified [RCV004096457] ChrX:105923208 [GRCh38]
ChrX:105167200 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.2185C>G (p.Arg729Gly) single nucleotide variant not specified [RCV004187149] ChrX:105909826 [GRCh38]
ChrX:105153818 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.1234G>A (p.Ala412Thr) single nucleotide variant not specified [RCV004194358] ChrX:105908875 [GRCh38]
ChrX:105152867 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.4559T>C (p.Ile1520Thr) single nucleotide variant not specified [RCV004202650] ChrX:105953079 [GRCh38]
ChrX:105197071 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.1639G>C (p.Glu547Gln) single nucleotide variant not specified [RCV004160503] ChrX:105909280 [GRCh38]
ChrX:105153272 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.1831C>T (p.Pro611Ser) single nucleotide variant not specified [RCV004088872] ChrX:105909472 [GRCh38]
ChrX:105153464 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.4400G>T (p.Cys1467Phe) single nucleotide variant not specified [RCV004135315] ChrX:105949621 [GRCh38]
ChrX:105193613 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.3246T>G (p.Asn1082Lys) single nucleotide variant not specified [RCV004145522] ChrX:105924965 [GRCh38]
ChrX:105168957 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.4277T>C (p.Phe1426Ser) single nucleotide variant not specified [RCV004140010] ChrX:105946388 [GRCh38]
ChrX:105190380 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.3119T>C (p.Ile1040Thr) single nucleotide variant not specified [RCV004175556] ChrX:105924838 [GRCh38]
ChrX:105168830 [GRCh37]
ChrX:Xq22.3		 likely benign
NM_198465.4(NRK):c.3236G>A (p.Gly1079Glu) single nucleotide variant not specified [RCV004162491] ChrX:105924955 [GRCh38]
ChrX:105168947 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.3752G>A (p.Arg1251His) single nucleotide variant not specified [RCV004234254] ChrX:105937535 [GRCh38]
ChrX:105181527 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.2344A>G (p.Ile782Val) single nucleotide variant not specified [RCV004129354] ChrX:105912750 [GRCh38]
ChrX:105156742 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.3505G>T (p.Ala1169Ser) single nucleotide variant not specified [RCV004069928] ChrX:105935175 [GRCh38]
ChrX:105179167 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.4094A>G (p.Asp1365Gly) single nucleotide variant not specified [RCV004206865] ChrX:105945906 [GRCh38]
ChrX:105189898 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.3341A>G (p.Asn1114Ser) single nucleotide variant not specified [RCV004181140] ChrX:105934286 [GRCh38]
ChrX:105178278 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.3044C>T (p.Ala1015Val) single nucleotide variant not specified [RCV004202917] ChrX:105924763 [GRCh38]
ChrX:105168755 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.2740C>T (p.Pro914Ser) single nucleotide variant not specified [RCV004119033] ChrX:105923247 [GRCh38]
ChrX:105167239 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.1924G>C (p.Gly642Arg) single nucleotide variant not specified [RCV004191203] ChrX:105909565 [GRCh38]
ChrX:105153557 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.2584G>A (p.Asp862Asn) single nucleotide variant not specified [RCV004183582] ChrX:105922035 [GRCh38]
ChrX:105166027 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.2780G>A (p.Ser927Asn) single nucleotide variant not specified [RCV004156791] ChrX:105923287 [GRCh38]
ChrX:105167279 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.25G>A (p.Asp9Asn) single nucleotide variant not specified [RCV004133551] ChrX:105822870 [GRCh38]
ChrX:105066863 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.4363A>C (p.Ile1455Leu) single nucleotide variant not specified [RCV004278221] ChrX:105949584 [GRCh38]
ChrX:105193576 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.4495G>A (p.Asp1499Asn) single nucleotide variant not specified [RCV004248144] ChrX:105949716 [GRCh38]
ChrX:105193708 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.2180G>T (p.Arg727Leu) single nucleotide variant not specified [RCV004272291] ChrX:105909821 [GRCh38]
ChrX:105153813 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.3325G>A (p.Gly1109Arg) single nucleotide variant not specified [RCV004348533] ChrX:105934270 [GRCh38]
ChrX:105178262 [GRCh37]
ChrX:Xq22.3		 likely benign
NM_198465.4(NRK):c.1828A>G (p.Ile610Val) single nucleotide variant not specified [RCV004363409] ChrX:105909469 [GRCh38]
ChrX:105153461 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.527G>T (p.Arg176Leu) single nucleotide variant not specified [RCV004361131] ChrX:105895470 [GRCh38]
ChrX:105139463 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.2395C>T (p.His799Tyr) single nucleotide variant not specified [RCV004334718] ChrX:105915775 [GRCh38]
ChrX:105159767 [GRCh37]
ChrX:Xq22.3		 uncertain significance
GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1 copy number loss not provided [RCV003483927] ChrX:91274467..126799984 [GRCh37]
ChrX:Xq21.31-25		 pathogenic
GRCh37/hg19 Xq21.33-22.3(chrX:96349060-106950847)x3 copy number gain not provided [RCV003485308] ChrX:96349060..106950847 [GRCh37]
ChrX:Xq21.33-22.3		 pathogenic
GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3 copy number gain not provided [RCV003485304] ChrX:77212972..118576590 [GRCh37]
ChrX:Xq21.1-24		 pathogenic
NM_198465.4(NRK):c.206G>A (p.Arg69Gln) single nucleotide variant not provided [RCV003432300] ChrX:105881733 [GRCh38]
ChrX:105125726 [GRCh37]
ChrX:Xq22.3		 likely benign
NM_198465.4(NRK):c.336A>G (p.Ala112=) single nucleotide variant not provided [RCV003432302] ChrX:105888377 [GRCh38]
ChrX:105132370 [GRCh37]
ChrX:Xq22.3		 likely benign
NM_198465.4(NRK):c.3740G>A (p.Arg1247Gln) single nucleotide variant not provided [RCV003488157] ChrX:105937523 [GRCh38]
ChrX:105181515 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.312A>G (p.Lys104=) single nucleotide variant not provided [RCV003432301] ChrX:105888353 [GRCh38]
ChrX:105132346 [GRCh37]
ChrX:Xq22.3		 likely benign
NM_198465.4(NRK):c.2163A>G (p.Glu721=) single nucleotide variant not provided [RCV003432303] ChrX:105909804 [GRCh38]
ChrX:105153796 [GRCh37]
ChrX:Xq22.3		 likely benign
NM_198465.4(NRK):c.2302C>G (p.Gln768Glu) single nucleotide variant not provided [RCV003432304] ChrX:105912708 [GRCh38]
ChrX:105156700 [GRCh37]
ChrX:Xq22.3		 benign
NM_198465.4(NRK):c.3576C>G (p.Val1192=) single nucleotide variant not provided [RCV003432305] ChrX:105935246 [GRCh38]
ChrX:105179238 [GRCh37]
ChrX:Xq22.3		 likely benign
GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731) copy number loss not specified [RCV003986202] ChrX:103405294..155233731 [GRCh37]
ChrX:Xq22.2-28		 pathogenic
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3 copy number gain not provided [RCV003885530] ChrX:67292994..155240074 [GRCh37]
ChrX:Xq12-28		 pathogenic
NM_198465.4(NRK):c.4675C>T (p.Arg1559Cys) single nucleotide variant not provided [RCV003884916] ChrX:105955526 [GRCh38]
ChrX:105199518 [GRCh37]
ChrX:Xq22.3		 likely benign
NM_198465.4(NRK):c.1124C>T (p.Thr375Ile) single nucleotide variant not specified [RCV004493571] ChrX:105908765 [GRCh38]
ChrX:105152757 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.1337T>G (p.Phe446Cys) single nucleotide variant not specified [RCV004493573] ChrX:105908978 [GRCh38]
ChrX:105152970 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.2218G>A (p.Glu740Lys) single nucleotide variant not specified [RCV004493576] ChrX:105909859 [GRCh38]
ChrX:105153851 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.3365C>T (p.Pro1122Leu) single nucleotide variant not specified [RCV004493582] ChrX:105934310 [GRCh38]
ChrX:105178302 [GRCh37]
ChrX:Xq22.3		 likely benign
NM_198465.4(NRK):c.1186C>T (p.Pro396Ser) single nucleotide variant not specified [RCV004493572] ChrX:105908827 [GRCh38]
ChrX:105152819 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.2918A>G (p.Asn973Ser) single nucleotide variant not specified [RCV004493580] ChrX:105923425 [GRCh38]
ChrX:105167417 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.3557A>G (p.Asn1186Ser) single nucleotide variant not specified [RCV004493583] ChrX:105935227 [GRCh38]
ChrX:105179219 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.3585A>G (p.Ala1195=) single nucleotide variant not specified [RCV004493584] ChrX:105935255 [GRCh38]
ChrX:105179247 [GRCh37]
ChrX:Xq22.3		 likely benign
NM_198465.4(NRK):c.3764T>C (p.Val1255Ala) single nucleotide variant not specified [RCV004493585] ChrX:105937547 [GRCh38]
ChrX:105181539 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.3846C>A (p.Asn1282Lys) single nucleotide variant not specified [RCV004493586] ChrX:105939920 [GRCh38]
ChrX:105183912 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.2369C>T (p.Ser790Phe) single nucleotide variant not specified [RCV004493577] ChrX:105915749 [GRCh38]
ChrX:105159741 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.2660C>A (p.Thr887Lys) single nucleotide variant not specified [RCV004493579] ChrX:105923167 [GRCh38]
ChrX:105167159 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.3174G>C (p.Glu1058Asp) single nucleotide variant not specified [RCV004493581] ChrX:105924893 [GRCh38]
ChrX:105168885 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.793G>A (p.Ala265Thr) single nucleotide variant not specified [RCV004493588] ChrX:105905291 [GRCh38]
ChrX:105149284 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.978A>T (p.Leu326Phe) single nucleotide variant not specified [RCV004493590] ChrX:105906546 [GRCh38]
ChrX:105150539 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.4606C>T (p.Arg1536Cys) single nucleotide variant not specified [RCV004493587] ChrX:105953126 [GRCh38]
ChrX:105197118 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.2093G>T (p.Arg698Ile) single nucleotide variant not specified [RCV004493575] ChrX:105909734 [GRCh38]
ChrX:105153726 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.2446G>A (p.Ala816Thr) single nucleotide variant not specified [RCV004493578] ChrX:105917606 [GRCh38]
ChrX:105161598 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.841G>A (p.Gly281Arg) single nucleotide variant not specified [RCV004493589] ChrX:105905339 [GRCh38]
ChrX:105149332 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.1350G>T (p.Gln450His) single nucleotide variant not specified [RCV004638709] ChrX:105908991 [GRCh38]
ChrX:105152983 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.4375C>T (p.Gln1459Ter) single nucleotide variant Autism [RCV004698708] ChrX:105949596 [GRCh38]
ChrX:105193588 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.3260A>G (p.Asp1087Gly) single nucleotide variant not specified [RCV004638708] ChrX:105924979 [GRCh38]
ChrX:105168971 [GRCh37]
ChrX:Xq22.3		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2 copy number gain Klinefelter syndrome [RCV004579655] ChrX:2757837..156030895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
NM_198465.4(NRK):c.932C>T (p.Pro311Leu) single nucleotide variant not specified [RCV004638707] ChrX:105906500 [GRCh38]
ChrX:105150493 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.1405C>G (p.Pro469Ala) single nucleotide variant not specified [RCV004638710] ChrX:105909046 [GRCh38]
ChrX:105153038 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.1065G>C (p.Gln355His) single nucleotide variant not specified [RCV004650453] ChrX:105908283 [GRCh38]
ChrX:105152275 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.4401C>G (p.Cys1467Trp) single nucleotide variant not specified [RCV004650454] ChrX:105949622 [GRCh38]
ChrX:105193614 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.1870G>C (p.Ala624Pro) single nucleotide variant not specified [RCV004650455] ChrX:105909511 [GRCh38]
ChrX:105153503 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.3433G>A (p.Ala1145Thr) single nucleotide variant not specified [RCV004650457] ChrX:105934378 [GRCh38]
ChrX:105178370 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.940C>T (p.Arg314Trp) single nucleotide variant not specified [RCV004638711] ChrX:105906508 [GRCh38]
ChrX:105150501 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NM_198465.4(NRK):c.3577T>A (p.Ser1193Thr) single nucleotide variant NRK-related condition [RCV004732012] ChrX:105935247 [GRCh38]
ChrX:105179239 [GRCh37]
ChrX:Xq22.3		 uncertain significance
NC_000023.10:g.(?_54610638)_(154689386_?)dup duplication Hereditary factor VIII deficiency disease [RCV004768478] ChrX:54610638..154689386 [GRCh37]
ChrX:Xp11.22-q28		 uncertain significance
NM_198465.4(NRK):c.4480C>T (p.Leu1494Phe) single nucleotide variant NRK-related condition [RCV004759197] ChrX:105949701 [GRCh38]
ChrX:105193693 [GRCh37]
ChrX:Xq22.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4593
Count of miRNA genes:940
Interacting mature miRNAs:1123
Transcripts:ENST00000243300, ENST00000428173, ENST00000536164, ENST00000540278
Prediction methods:Microtar, Miranda, Pita, Pita,Targetscan, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407095426GWAS744402_Hthyroxine measurement QTL GWAS744402 (human)9e-32thyroxine measurementblood thyroxine level (CMO:0001288)X105857587105857588Human
406991584GWAS640560_Hbody height QTL GWAS640560 (human)0.000007body height (VT:0001253)body height (CMO:0000106)X105908290105908291Human
406955602GWAS604578_Hthyroxine-binding globulin measurement QTL GWAS604578 (human)4e-12thyroxine-binding globulin measurementX105913663105913664Human
407052441GWAS701417_Hthyroxine measurement QTL GWAS701417 (human)6e-14thyroxine measurementblood thyroxine level (CMO:0001288)X105907672105907673Human
407360825GWAS1009801_Htriiodothyronine measurement QTL GWAS1009801 (human)1e-15triiodothyronine measurementblood triiodothyronine level (CMO:0001291)X105848286105848287Human

Markers in Region
L77816  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X105,103,588 - 105,103,654UniSTSGRCh37
Build 36X104,990,244 - 104,990,310RGDNCBI36
CeleraX105,578,066 - 105,578,132RGD
Cytogenetic MapXq22.3UniSTS
HuRefX94,729,901 - 94,729,967UniSTS
DXS87  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X105,108,781 - 105,109,800UniSTSGRCh37
GRCh37X105,109,233 - 105,109,459UniSTSGRCh37
Build 36X104,995,437 - 104,996,456RGDNCBI36
CeleraX105,583,712 - 105,583,938UniSTS
CeleraX105,583,260 - 105,584,279RGD
Cytogenetic MapXq12-q26UniSTS
Cytogenetic MapXq22.3UniSTS
HuRefX94,736,171 - 94,736,397UniSTS
HuRefX94,735,719 - 94,736,738UniSTS
px-41g5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X105,199,814 - 105,199,916UniSTSGRCh37
Build 36X105,086,470 - 105,086,572RGDNCBI36
CeleraX105,674,296 - 105,674,398RGD
HuRefX94,826,641 - 94,826,743UniSTS
SHGC-34675  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X105,200,952 - 105,201,101UniSTSGRCh37
Build 36X105,087,608 - 105,087,757RGDNCBI36
CeleraX105,675,434 - 105,675,583RGD
Cytogenetic MapXq22.3UniSTS
HuRefX94,827,779 - 94,827,928UniSTS
GeneMap99-GB4 RH MapX294.21UniSTS
Whitehead-RH MapX271.1UniSTS
NCBI RH MapX553.2UniSTS
GeneMap99-G3 RH MapX3181.0UniSTS
SHGC-36254  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X105,201,238 - 105,201,378UniSTSGRCh37
Build 36X105,087,894 - 105,088,034RGDNCBI36
CeleraX105,675,720 - 105,675,860RGD
Cytogenetic MapXq22.3UniSTS
HuRefX94,828,063 - 94,828,203UniSTS
Stanford-G3 RH MapX3144.0UniSTS
GeneMap99-G3 RH MapX3165.0UniSTS
L77860  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X105,101,335 - 105,101,445UniSTSGRCh37
Build 36X104,987,991 - 104,988,101RGDNCBI36
CeleraX105,575,813 - 105,575,923RGD
Cytogenetic MapXq22.3UniSTS
HuRefX94,727,956 - 94,728,066UniSTS
RH70201  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X105,200,935 - 105,201,068UniSTSGRCh37
Build 36X105,087,591 - 105,087,724RGDNCBI36
CeleraX105,675,417 - 105,675,550RGD
Cytogenetic MapXq22.3UniSTS
HuRefX94,827,762 - 94,827,895UniSTS
GeneMap99-GB4 RH MapX281.12UniSTS
NCBI RH MapX541.9UniSTS
DXS87  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq22.3UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2278 2751 2226 4326 1626 2121 6 537 710 379 2159 5783 5242 24 3188 1 766 1631 1472 162 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK131549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC108702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX538345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF548072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z68339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z70274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z97356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000243300   ⟹   ENSP00000434830
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX105,822,539 - 105,958,610 (+)Ensembl
Ensembl Acc Id: ENST00000428173   ⟹   ENSP00000438378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX105,822,581 - 105,939,947 (+)Ensembl
Ensembl Acc Id: ENST00000536164   ⟹   ENSP00000438785
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX105,822,553 - 105,895,363 (+)Ensembl
Ensembl Acc Id: ENST00000540278   ⟹   ENSP00000438148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX105,948,438 - 105,956,593 (+)Ensembl
RefSeq Acc Id: NM_198465   ⟹   NP_940867
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X105,822,539 - 105,958,610 (+)NCBI
GRCh37X105,066,536 - 105,202,602 (+)RGD
GRCh37X105,066,536 - 105,202,602 (+)NCBI
Build 36X104,953,192 - 105,089,258 (+)NCBI Archive
CeleraX105,541,018 - 105,677,081 (+)RGD
HuRefX94,691,867 - 94,829,421 (+)ENTREZGENE
CHM1_1X104,977,838 - 105,113,888 (+)NCBI
T2T-CHM13v2.0X104,254,349 - 104,390,422 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724632   ⟹   XP_006724695
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X105,822,539 - 105,958,610 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724633   ⟹   XP_006724696
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X105,822,539 - 105,958,610 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724634   ⟹   XP_006724697
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X105,822,539 - 105,958,610 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530887   ⟹   XP_011529189
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X105,821,786 - 105,958,610 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054326657   ⟹   XP_054182632
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X104,254,349 - 104,390,422 (+)NCBI
RefSeq Acc Id: XM_054326658   ⟹   XP_054182633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X104,254,349 - 104,390,422 (+)NCBI
RefSeq Acc Id: XM_054326659   ⟹   XP_054182634
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X104,254,349 - 104,390,422 (+)NCBI
RefSeq Acc Id: XM_054326660   ⟹   XP_054182635
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X104,253,759 - 104,390,422 (+)NCBI
RefSeq Acc Id: NP_940867   ⟸   NM_198465
- UniProtKB: Q5H9K2 (UniProtKB/Swiss-Prot),   Q32ND6 (UniProtKB/Swiss-Prot),   Q6ZMP2 (UniProtKB/Swiss-Prot),   Q7Z2Y5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006724695   ⟸   XM_006724632
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006724696   ⟸   XM_006724633
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006724697   ⟸   XM_006724634
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011529189   ⟸   XM_011530887
- Peptide Label: isoform X3
- Sequence:
Ensembl Acc Id: ENSP00000438378   ⟸   ENST00000428173
Ensembl Acc Id: ENSP00000434830   ⟸   ENST00000243300
Ensembl Acc Id: ENSP00000438785   ⟸   ENST00000536164
Ensembl Acc Id: ENSP00000438148   ⟸   ENST00000540278
RefSeq Acc Id: XP_054182635   ⟸   XM_054326660
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054182632   ⟸   XM_054326657
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054182633   ⟸   XM_054326658
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054182634   ⟸   XM_054326659
- Peptide Label: isoform X4
Protein Domains
CNH   Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q7Z2Y5-F1-model_v2 AlphaFold Q7Z2Y5 1-1582 view protein structure

Promoters
RGD ID:13627774
Promoter ID:EPDNEW_H29162
Type:initiation region
Name:NRK_1
Description:Nik related kinase
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
GRCh38X105,822,608 - 105,822,668EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25391 AgrOrtholog
COSMIC NRK COSMIC
Ensembl Genes ENSG00000123572 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000243300 ENTREZGENE
  ENST00000243300.14 UniProtKB/Swiss-Prot
  ENST00000428173.3 UniProtKB/TrEMBL
  ENST00000536164.5 UniProtKB/Swiss-Prot
  ENST00000540278.1 UniProtKB/TrEMBL
Gene3D-CATH Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000123572 GTEx
HGNC ID HGNC:25391 ENTREZGENE
Human Proteome Map NRK Human Proteome Map
InterPro CNH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STE20_Ser-Thr_kinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:203447 UniProtKB/Swiss-Prot
NCBI Gene 203447 ENTREZGENE
OMIM 300791 OMIM
PANTHER MISSHAPEN LIKE KINASE 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NIK-RELATED PROTEIN KINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CNH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134869113 PharmGKB
PROSITE CNH UniProtKB/Swiss-Prot
  PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CNH UniProtKB/Swiss-Prot
  S_TKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B7Z1I7_HUMAN UniProtKB/TrEMBL
  F5H049_HUMAN UniProtKB/TrEMBL
  L0R517_HUMAN UniProtKB/TrEMBL
  NRK_HUMAN UniProtKB/Swiss-Prot
  Q32ND6 ENTREZGENE
  Q5H9K2 ENTREZGENE
  Q6ZMP2 ENTREZGENE
  Q7Z2Y5 ENTREZGENE
UniProt Secondary Q32ND6 UniProtKB/Swiss-Prot
  Q5H9K2 UniProtKB/Swiss-Prot
  Q6ZMP2 UniProtKB/Swiss-Prot