ARHGAP4 (Rho GTPase activating protein 4) - Rat Genome Database

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Gene: ARHGAP4 (Rho GTPase activating protein 4) Homo sapiens
Analyze
Symbol: ARHGAP4
Name: Rho GTPase activating protein 4
RGD ID: 1343373
HGNC Page HGNC:674
Description: Enables identical protein binding activity. Predicted to be involved in negative regulation of cell migration. Located in cytosol and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C1; KIAA0131; p115; RGC1; rho GTPase-activating protein 4; Rho-GAP hematopoietic protein C1; rho-type GTPase-activating protein 4; RhoGAP4; SrGAP4
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
GRCh38X153,907,378 - 153,926,264 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX153,907,367 - 153,934,999 (-)EnsemblGRCh38hg38GRCh38
GRCh37X153,172,832 - 153,191,718 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X152,826,025 - 152,844,892 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X152,693,677 - 152,712,545NCBI
CeleraX153,406,543 - 153,425,434 (-)NCBICelera
Cytogenetic MapXq28NCBI
HuRefX141,824,230 - 141,844,372 (-)NCBIHuRef
CHM1_1X153,047,278 - 153,066,168 (-)NCBICHM1_1
T2T-CHM13v2.0X152,181,090 - 152,199,981 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IDA,IEA,TAS)
cytosol  (IDA,TAS)
growth cone  (IEA,ISO)
microtubule  (IEA)
nucleoplasm  (IDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7981673   PMID:8570618   PMID:8590280   PMID:10655059   PMID:11076863   PMID:11256614   PMID:11754100   PMID:11756498   PMID:12376548   PMID:12414125   PMID:12447388   PMID:12477932  
PMID:12736724   PMID:12787561   PMID:14581471   PMID:15489336   PMID:16381901   PMID:16417406   PMID:18029348   PMID:18489790   PMID:19913121   PMID:20237496   PMID:20628086   PMID:21873635  
PMID:22009749   PMID:22751105   PMID:22965914   PMID:23182705   PMID:24043878   PMID:26344197   PMID:26702831   PMID:26707211   PMID:29117863   PMID:30021884   PMID:30958531   PMID:31753913  
PMID:32203420   PMID:32378260   PMID:33644029   PMID:33961781   PMID:34524873   PMID:35216969   PMID:36288877   PMID:36543142   PMID:37443303  


Genomics

Comparative Map Data
ARHGAP4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X153,907,378 - 153,926,264 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX153,907,367 - 153,934,999 (-)EnsemblGRCh38hg38GRCh38
GRCh37X153,172,832 - 153,191,718 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X152,826,025 - 152,844,892 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X152,693,677 - 152,712,545NCBI
CeleraX153,406,543 - 153,425,434 (-)NCBICelera
Cytogenetic MapXq28NCBI
HuRefX141,824,230 - 141,844,372 (-)NCBIHuRef
CHM1_1X153,047,278 - 153,066,168 (-)NCBICHM1_1
T2T-CHM13v2.0X152,181,090 - 152,199,981 (-)NCBIT2T-CHM13v2.0
Arhgap4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X72,937,958 - 72,954,945 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX72,935,048 - 72,965,476 (-)EnsemblGRCm39 Ensembl
GRCm38X73,894,352 - 73,911,345 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX73,891,442 - 73,921,870 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X71,139,691 - 71,156,637 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X70,147,078 - 70,163,949 (-)NCBIMGSCv36mm8
CeleraX65,146,782 - 65,163,733 (-)NCBICelera
Cytogenetic MapXA7.3NCBI
cM MapX37.45NCBI
Arhgap4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X156,787,566 - 156,802,841 (-)NCBIGRCr8
mRatBN7.2X151,636,071 - 151,651,528 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX151,632,454 - 151,651,128 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX153,777,408 - 153,792,281 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X157,340,624 - 157,355,497 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X155,012,457 - 155,027,330 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X156,873,094 - 156,888,762 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX156,873,849 - 156,888,761 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01152,621,929 - 152,636,830 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X159,824,136 - 159,839,008 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1X159,895,781 - 159,914,456 (-)NCBI
Celera1136,240,986 - 136,255,858 (+)NCBICelera
Cytogenetic MapXq37NCBI
Arhgap4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955580586,986 - 600,299 (-)NCBIChiLan1.0ChiLan1.0
ARHGAP4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X153,952,137 - 153,971,360 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X153,955,743 - 153,975,083 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X143,462,157 - 143,481,496 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X153,349,050 - 153,367,709 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX153,349,050 - 153,367,709 (-)Ensemblpanpan1.1panPan2
ARHGAP4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X121,754,965 - 121,772,209 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX121,755,221 - 121,772,541 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX107,083,712 - 107,100,978 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X124,896,249 - 124,913,499 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX124,896,263 - 124,913,532 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X120,665,512 - 120,682,776 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X123,180,944 - 123,198,176 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X122,942,263 - 122,959,510 (-)NCBIUU_Cfam_GSD_1.0
Arhgap4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X119,053,506 - 119,069,677 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936809791,274 - 807,450 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936809791,275 - 807,448 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ARHGAP4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX124,641,226 - 124,655,279 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X124,641,222 - 124,655,312 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X142,205,952 - 142,220,121 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ARHGAP4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_02366606566,202,566 - 66,224,235 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Arhgap4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624946543,542 - 556,865 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ARHGAP4
54 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
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:150036146-156022206)x3 copy number gain See cases [RCV000050946] ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:149989929-156022206)x3 copy number gain See cases [RCV000050657] ChrX:149989929..156022206 [GRCh38]
ChrX:149158160..155251871 [GRCh37]
ChrX:148908818..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153296806-155699618)x1 copy number loss See cases [RCV000051750] ChrX:153296806..155699618 [GRCh38]
ChrX:152568327..154929279 [GRCh37]
ChrX:152215458..154582473 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153769547-154394658)x2 copy number gain See cases [RCV000052525] ChrX:153769547..154394658 [GRCh38]
ChrX:152688196..153276194 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153777340-154397779)x3 copy number gain See cases [RCV000052527] ChrX:153777340..154397779 [GRCh38]
ChrX:153333946..153626120 [GRCh37]
ChrX:152695989..153279314 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153787044-154397779)x2 copy number gain See cases [RCV000052528] ChrX:153787044..154397779 [GRCh38]
ChrX:153333946..153626120 [GRCh37]
ChrX:152705693..153279314 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] ChrX:152932818..156022206 [GRCh38]
ChrX:152173071..155251871 [GRCh37]
ChrX:151852018..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 copy number gain See cases [RCV000052491] ChrX:153395425..155687381 [GRCh38]
ChrX:152314077..154570236 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153504314-154144797)x2 copy number gain See cases [RCV000052492] ChrX:153504314..154144797 [GRCh38]
ChrX:152422966..153063464 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 copy number gain See cases [RCV000052474] ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:153585420-154427385)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|See cases [RCV000052521] ChrX:153585420..154427385 [GRCh38]
ChrX:152864376..153655730 [GRCh37]
ChrX:152504072..153308924 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153590730-154380801)x2 copy number gain See cases [RCV000052522] ChrX:153590730..154380801 [GRCh38]
ChrX:152864376..153609161 [GRCh37]
ChrX:152509382..153262355 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153714542-154380803)x2 copy number gain See cases [RCV000052523] ChrX:153714542..154380803 [GRCh38]
ChrX:152633191..153262357 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153722500-154367160)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|See cases [RCV000052524] ChrX:153722500..154367160 [GRCh38]
ChrX:152641149..153248722 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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: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 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq28(chrX:153855152-154092314)x2 copy number gain See cases [RCV000135840] ChrX:153855152..154092314 [GRCh38]
ChrX:152773801..153010966 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153296806-154604471)x2 copy number gain See cases [RCV000135451] ChrX:153296806..154604471 [GRCh38]
ChrX:152568327..153832724 [GRCh37]
ChrX:152215458..153485918 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153322656-155522304)x2 copy number gain See cases [RCV000136716] ChrX:153322656..155522304 [GRCh38]
ChrX:152864376..154751965 [GRCh37]
ChrX:152241308..154405159 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:151750863-155522304)x1 copy number loss See cases [RCV000136718] ChrX:151750863..155522304 [GRCh38]
ChrX:150919335..154751965 [GRCh37]
ChrX:150669991..154405159 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153276277-156003242)x3 copy number gain See cases [RCV000137498] ChrX:153276277..156003242 [GRCh38]
ChrX:152465185..155232907 [GRCh37]
ChrX:152118379..154886101 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153667032-154394658)x2 copy number gain See cases [RCV000137536] ChrX:153667032..154394658 [GRCh38]
ChrX:152585681..153276194 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:153813894-154140759)x2 copy number gain See cases [RCV000137153] ChrX:153813894..154140759 [GRCh38]
ChrX:152732543..153059427 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28
pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:153727116-154555423)x2 copy number gain See cases [RCV000138393] ChrX:153727116..154555423 [GRCh38]
ChrX:153333946..153783638 [GRCh37]
ChrX:152645765..153436832 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xq28(chrX:153813894-154383071)x2 copy number gain See cases [RCV000140524] ChrX:153813894..154383071 [GRCh38]
ChrX:153079349..153611431 [GRCh37]
ChrX:152732543..153264625 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153451351-154230630)x2 copy number gain See cases [RCV000140532] ChrX:153451351..154230630 [GRCh38]
ChrX:152716809..153496099 [GRCh37]
ChrX:152370003..153149293 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153802827-154294817)x2 copy number gain See cases [RCV000140537] ChrX:153802827..154294817 [GRCh38]
ChrX:153068282..153523170 [GRCh37]
ChrX:152721476..153176364 [NCBI36]
ChrX:Xq28
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 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq28(chrX:153392250-153934599)x3 copy number gain See cases [RCV000142157] ChrX:153392250..153934599 [GRCh38]
ChrX:152657708..153200052 [GRCh37]
ChrX:152310902..152853246 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:153861449-154140759)x2 copy number gain See cases [RCV000143114] ChrX:153861449..154140759 [GRCh38]
ChrX:152780098..153059427 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 copy number gain See cases [RCV000143002] ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 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 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
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 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:153047627-153555804)x2 copy number gain See cases [RCV000239929] ChrX:153047627..153555804 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152912867-153236360)x2 copy number gain See cases [RCV000239969] ChrX:152912867..153236360 [GRCh37]
ChrX:Xq28
uncertain significance
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: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 Xq28(chrX:152993910-153555804)x2 copy number gain See cases [RCV000240396] ChrX:152993910..153555804 [GRCh37]
ChrX:Xq28
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 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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
NM_001666.5(ARHGAP4):c.1036G>T (p.Ala346Ser) single nucleotide variant Inborn genetic diseases [RCV003267925] ChrX:153913876 [GRCh38]
ChrX:153179330 [GRCh37]
ChrX:Xq28
uncertain significance
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 Xq27.1-28(chrX:139586015-154774957) copy number gain Syndromic X-linked intellectual disability Lubs type [RCV003214133] ChrX:139586015..154774957 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 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 Xq28(chrX:152228560-154930047)x2 copy number gain See cases [RCV000447331] ChrX:152228560..154930047 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:152970475-153524157)x2 copy number gain See cases [RCV000447506] ChrX:152970475..153524157 [GRCh37]
ChrX:Xq28
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 Xq28(chrX:150253008-155233731)x1 copy number loss See cases [RCV000446761] ChrX:150253008..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:152886474-153368990)x2 copy number gain See cases [RCV000448796] ChrX:152886474..153368990 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_001666.5(ARHGAP4):c.2608-6C>T single nucleotide variant not specified [RCV000455465] ChrX:153907968 [GRCh38]
ChrX:153173422 [GRCh37]
ChrX:Xq28
benign
NM_001666.5(ARHGAP4):c.1716T>C (p.His572=) single nucleotide variant not specified [RCV000455489] ChrX:153910800 [GRCh38]
ChrX:153176254 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 copy number gain See cases [RCV000510478] ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153097608-153681801)x2 copy number gain See cases [RCV000510362] ChrX:153097608..153681801 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic|uncertain significance
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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 Xq27.3-28(chrX:146232592-155233731)x1 copy number loss See cases [RCV000511228] ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:151963528-155233731)x1 copy number loss See cases [RCV000510866] ChrX:151963528..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 copy number loss See cases [RCV000510920] ChrX:151311551..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_001666.5(ARHGAP4):c.2509C>G (p.Pro837Ala) single nucleotide variant Inborn genetic diseases [RCV003284637] ChrX:153909168 [GRCh38]
ChrX:153174622 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_153128098)_(153599633_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000645140] ChrX:153128098..153599633 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152899437-153624564)x2 copy number gain See cases [RCV000512403] ChrX:152899437..153624564 [GRCh37]
ChrX:Xq28
pathogenic
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 Xq28(chrX:153138672-153665655) copy number gain Microcytic anemia [RCV000626549] ChrX:153138672..153665655 [GRCh37]
ChrX:Xq28
pathogenic
Single allele duplication not provided [RCV000677999] ChrX:152912867..153236360 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:152398094-153176959)x2 copy number gain not provided [RCV000684736] ChrX:152398094..153176959 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:152628304-153594168)x2 copy number gain not provided [RCV000684738] ChrX:152628304..153594168 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152941302-153438781)x3 copy number gain not provided [RCV000684739] ChrX:152941302..153438781 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq28(chrX:153123907-153431401)x2 copy number gain not provided [RCV000684741] ChrX:153123907..153431401 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
NC_000023.10:g.(?_152954010)_(153599633_?)dup duplication Creatine transporter deficiency [RCV003117500]|Severe neonatal-onset encephalopathy with microcephaly [RCV000707841] ChrX:152954010..153599633 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance
NC_000023.10:g.(?_153128823)_(153416424_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000708432] ChrX:153128823..153416424 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153128118)_(153416424_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000707765] ChrX:153128118..153416424 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153170600)_(153409869_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000708104]|not provided [RCV003117501] ChrX:153170600..153409869 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance|no classifications from unflagged records
NC_000023.10:g.(?_153184286)_(153409869_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000708531] ChrX:153184286..153409869 [GRCh37]
ChrX:Xq28
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 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
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 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:152806628-153626649)x2 copy number gain not provided [RCV000753922] ChrX:152806628..153626649 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153184816-153626794)x3 copy number gain not provided [RCV000753930] ChrX:153184816..153626794 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 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: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)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
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
NM_001666.5(ARHGAP4):c.1033-1347dup duplication not provided [RCV001691437] ChrX:153915223..153915224 [GRCh38]
ChrX:153180677..153180678 [GRCh37]
ChrX:Xq28
benign
NM_001666.5(ARHGAP4):c.1033-1305C>T single nucleotide variant not provided [RCV001693058] ChrX:153915184 [GRCh38]
ChrX:153180638 [GRCh37]
ChrX:Xq28
benign
NM_001666.5(ARHGAP4):c.67+7G>A single nucleotide variant not provided [RCV000967617] ChrX:153926129 [GRCh38]
ChrX:153191583 [GRCh37]
ChrX:Xq28
benign
NM_001666.5(ARHGAP4):c.1881G>A (p.Pro627=) single nucleotide variant not provided [RCV000883606] ChrX:153910547 [GRCh38]
ChrX:153176001 [GRCh37]
ChrX:Xq28
benign
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 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:153174571-153609996) copy number gain Syndromic X-linked intellectual disability Lubs type [RCV000767661] ChrX:153174571..153609996 [GRCh37]
ChrX:Xq28
pathogenic
NM_001666.5(ARHGAP4):c.932C>T (p.Ala311Val) single nucleotide variant not provided [RCV000888479]|not specified [RCV001726363] ChrX:153918932 [GRCh38]
ChrX:153184386 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001666.5(ARHGAP4):c.2415-4G>A single nucleotide variant not provided [RCV000951365] ChrX:153909539 [GRCh38]
ChrX:153174993 [GRCh37]
ChrX:Xq28
benign
NM_001666.5(ARHGAP4):c.237C>A (p.Gly79=) single nucleotide variant not provided [RCV000921117] ChrX:153921640 [GRCh38]
ChrX:153187093 [GRCh37]
ChrX:Xq28
likely benign
NC_000023.10:g.(?_152954020)_(154096327_?)del deletion Adrenoleukodystrophy [RCV000815921] ChrX:152954020..154096327 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153137587)_(153363142_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000794134] ChrX:153137587..153363142 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153128098)_(153363142_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000801357] ChrX:153128098..153363142 [GRCh37]
ChrX:Xq28
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
NC_000023.10:g.(?_152990712)_(153650075_?)del deletion X-linked Emery-Dreifuss muscular dystrophy [RCV000823256] ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153128108)_(153609567_?)dup duplication X-linked Emery-Dreifuss muscular dystrophy [RCV000795425] ChrX:153128108..153609567 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153105400-153438105)x2 copy number gain not provided [RCV000846316] ChrX:153105400..153438105 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153154008-153624566)x2 copy number gain not provided [RCV000846110] ChrX:153154008..153624566 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
NM_001666.5(ARHGAP4):c.682-352T>C single nucleotide variant Inborn genetic diseases [RCV003272421] ChrX:153919635 [GRCh38]
ChrX:153185089 [GRCh37]
ChrX:Xq28
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
NC_000023.10:g.(?_152014869)_(154563736_?)del deletion Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003122393]|Dyskeratosis congenita [RCV003105406]|not provided [RCV003105407] ChrX:152014869..154563736 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance|no classifications from unflagged records
NC_000023.10:g.(?_153128118)_(153664237_?)dup duplication Heterotopia, periventricular, X-linked dominant [RCV003107402] ChrX:153128118..153664237 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.1033-1187A>G single nucleotide variant not provided [RCV001655037] ChrX:153915066 [GRCh38]
ChrX:153180520 [GRCh37]
ChrX:Xq28
benign
NM_001666.5(ARHGAP4):c.1260C>T (p.Asp420=) single nucleotide variant not provided [RCV000955059] ChrX:153913475 [GRCh38]
ChrX:153178929 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_001666.5(ARHGAP4):c.1290C>T (p.Arg430=) single nucleotide variant not provided [RCV000887375] ChrX:153913445 [GRCh38]
ChrX:153178899 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:153029046-153567369)x3 copy number gain not provided [RCV001007368] ChrX:153029046..153567369 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_152954010)_(153363142_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV001033929] ChrX:152954010..153363142 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153023149-153345755)x2 copy number gain not provided [RCV001007367] ChrX:153023149..153345755 [GRCh37]
ChrX:Xq28
likely pathogenic
NC_000023.10:g.(?_152990712)_(153650075_?)dup duplication X-linked Emery-Dreifuss muscular dystrophy [RCV001031812] ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xq28(chrX:152516781-153368573)x2 copy number gain not provided [RCV001007365] ChrX:152516781..153368573 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xq28(chrX:152372767-155233731) copy number gain Chromosome Xq28 duplication syndrome [RCV002280621]|Syndromic X-linked intellectual disability Lubs type [RCV002280620] ChrX:152372767..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:153113943-153624215)x2 copy number gain not provided [RCV001260058] ChrX:153113943..153624215 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153135257-153594096)x3 copy number gain not provided [RCV001260059] ChrX:153135257..153594096 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152631130-153240286)x3 copy number gain not provided [RCV001260062] ChrX:152631130..153240286 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153858452-154332213)x2 copy number gain Chromosome Xq28 duplication syndrome [RCV001375670] ChrX:153858452..154332213 [GRCh38]
ChrX:Xq28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV001391666] ChrX:153128098..153498669 [GRCh37]
ChrX:Xq28
pathogenic
NM_001666.5(ARHGAP4):c.2113G>A (p.Val705Ile) single nucleotide variant Inborn genetic diseases [RCV002542985]|not provided [RCV001813175] ChrX:153910214 [GRCh38]
ChrX:153175668 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq28(chrX:153905292-154361918) copy number gain Syndromic X-linked intellectual disability Lubs type [RCV000012611] ChrX:153905292..154361918 [GRCh38]
ChrX:Xq28
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
NM_001666.5(ARHGAP4):c.926T>G (p.Val309Gly) single nucleotide variant not specified [RCV001650505] ChrX:153918938 [GRCh38]
ChrX:153184392 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_152014869)_(155171615_?)del deletion 3-Methylglutaconic aciduria type 2 [RCV003119101]|Adrenoleukodystrophy [RCV003119100]|Creatine transporter deficiency [RCV003119103]|Heterotopia, periventricular, X-linked dominant [RCV003109218]|Spastic paraplegia [RCV003109219]|X-linked Emery-Dreifuss muscular dystrophy [RCV003119102] ChrX:152014869..155171615 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_152014869)_(153363122_?)dup duplication Adrenoleukodystrophy [RCV003119105]|not provided [RCV003109220] ChrX:152014869..153363122 [GRCh37]
ChrX:Xq28
uncertain significance|no classifications from unflagged records
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 Xq28(chrX:152970475-153524157) copy number gain not specified [RCV002053204] ChrX:152970475..153524157 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153105394-153421839) copy number gain not specified [RCV002053207] ChrX:153105394..153421839 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153093501-153792322)x2 copy number gain not provided [RCV001834439] ChrX:153093501..153792322 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152740984-153431748)x2 copy number gain not provided [RCV001829153] ChrX:152740984..153431748 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_152986307)_(153593345_?)dup duplication Heterotopia, periventricular, X-linked dominant [RCV001967054] ChrX:152986307..153593345 [GRCh37]
ChrX:Xq28
uncertain significance
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 Xq28(chrX:153135263-153594168) copy number gain not specified [RCV002053209] ChrX:153135263..153594168 [GRCh37]
ChrX:Xq28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV001839062] ChrX:140888048..154656872 [GRCh38]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:153113943-153624020) copy number gain not specified [RCV002053208] ChrX:153113943..153624020 [GRCh37]
ChrX:Xq28
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
NC_000023.10:g.(?_152482081)_(153416424_?)del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001953905] ChrX:152482081..153416424 [GRCh37]
ChrX:Xq28
pathogenic
Single allele deletion Immunodeficiency 33 [RCV002247742]|Splenomegaly [RCV002247743] ChrX:153427468..156004919 [GRCh38]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_152954030)_(153283591_?)dup duplication Spastic paraplegia [RCV003111187]|not provided [RCV003111188] ChrX:152954030..153283591 [GRCh37]
ChrX:Xq28
uncertain significance|no classifications from unflagged records
NC_000023.10:g.(?_153001546)_(154563736_?)dup duplication Adrenoleukodystrophy [RCV003119108] ChrX:153001546..154563736 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:152815772-153624215) copy number gain Global developmental delay [RCV002280663] ChrX:152815772..153624215 [GRCh37]
ChrX:Xq28
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
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 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:142401540-155233731)x1 copy number loss See cases [RCV002292203] ChrX:142401540..155233731 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:152805142-153200052)x2 copy number gain not provided [RCV002474953] ChrX:152805142..153200052 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1 copy number loss not provided [RCV002474567] ChrX:124749464..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
NM_001666.5(ARHGAP4):c.2099C>T (p.Ser700Leu) single nucleotide variant Inborn genetic diseases [RCV003307264] ChrX:153910228 [GRCh38]
ChrX:153175682 [GRCh37]
ChrX:Xq28
likely benign
NM_001666.5(ARHGAP4):c.1066G>A (p.Asp356Asn) single nucleotide variant Inborn genetic diseases [RCV002969223] ChrX:153913846 [GRCh38]
ChrX:153179300 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.157A>G (p.Met53Val) single nucleotide variant Inborn genetic diseases [RCV003012707] ChrX:153921720 [GRCh38]
ChrX:153187173 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.2318T>C (p.Leu773Pro) single nucleotide variant Inborn genetic diseases [RCV002905552] ChrX:153909837 [GRCh38]
ChrX:153175291 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.2188A>G (p.Asn730Asp) single nucleotide variant Inborn genetic diseases [RCV002683721] ChrX:153910054 [GRCh38]
ChrX:153175508 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.2368G>A (p.Gly790Ser) single nucleotide variant Inborn genetic diseases [RCV002865952] ChrX:153909787 [GRCh38]
ChrX:153175241 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.2018C>T (p.Pro673Leu) single nucleotide variant Inborn genetic diseases [RCV002688857] ChrX:153910309 [GRCh38]
ChrX:153175763 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.2328C>G (p.His776Gln) single nucleotide variant Inborn genetic diseases [RCV002880126] ChrX:153909827 [GRCh38]
ChrX:153175281 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.556C>T (p.Arg186Trp) single nucleotide variant Inborn genetic diseases [RCV002688268] ChrX:153920751 [GRCh38]
ChrX:153186205 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.2678G>A (p.Gly893Glu) single nucleotide variant Inborn genetic diseases [RCV002758911] ChrX:153907892 [GRCh38]
ChrX:153173346 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.2666G>A (p.Arg889His) single nucleotide variant Inborn genetic diseases [RCV002784248] ChrX:153907904 [GRCh38]
ChrX:153173358 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.593G>A (p.Arg198Gln) single nucleotide variant Inborn genetic diseases [RCV002924977] ChrX:153920714 [GRCh38]
ChrX:153186168 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.863C>T (p.Thr288Met) single nucleotide variant Inborn genetic diseases [RCV002912359] ChrX:153919001 [GRCh38]
ChrX:153184455 [GRCh37]
ChrX:Xq28
likely benign
NM_001666.5(ARHGAP4):c.2686T>C (p.Ser896Pro) single nucleotide variant Inborn genetic diseases [RCV002848746] ChrX:153907884 [GRCh38]
ChrX:153173338 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.1819C>G (p.Leu607Val) single nucleotide variant Inborn genetic diseases [RCV002888375] ChrX:153910609 [GRCh38]
ChrX:153176063 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.2312A>G (p.Asp771Gly) single nucleotide variant Inborn genetic diseases [RCV002783604] ChrX:153909843 [GRCh38]
ChrX:153175297 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.682-386G>T single nucleotide variant Inborn genetic diseases [RCV002705176] ChrX:153919669 [GRCh38]
ChrX:153185123 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.2002C>A (p.Pro668Thr) single nucleotide variant Inborn genetic diseases [RCV002931001] ChrX:153910325 [GRCh38]
ChrX:153175779 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.2825C>T (p.Thr942Ile) single nucleotide variant Inborn genetic diseases [RCV002804947]|not provided [RCV003434690] ChrX:153907745 [GRCh38]
ChrX:153173199 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001666.5(ARHGAP4):c.941C>G (p.Pro314Arg) single nucleotide variant Inborn genetic diseases [RCV002931310] ChrX:153918923 [GRCh38]
ChrX:153184377 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.2819A>C (p.Asp940Ala) single nucleotide variant Inborn genetic diseases [RCV002787289] ChrX:153907751 [GRCh38]
ChrX:153173205 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.1556C>T (p.Pro519Leu) single nucleotide variant Inborn genetic diseases [RCV002827836] ChrX:153911176 [GRCh38]
ChrX:153176630 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.1822G>A (p.Glu608Lys) single nucleotide variant Inborn genetic diseases [RCV002713191] ChrX:153910606 [GRCh38]
ChrX:153176060 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.2302C>T (p.Arg768Trp) single nucleotide variant Inborn genetic diseases [RCV003006970] ChrX:153909853 [GRCh38]
ChrX:153175307 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.2665C>T (p.Arg889Cys) single nucleotide variant Inborn genetic diseases [RCV002984974] ChrX:153907905 [GRCh38]
ChrX:153173359 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.1325C>T (p.Thr442Met) single nucleotide variant Inborn genetic diseases [RCV002984586] ChrX:153913410 [GRCh38]
ChrX:153178864 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.2219C>T (p.Ala740Val) single nucleotide variant Inborn genetic diseases [RCV002668243] ChrX:153910023 [GRCh38]
ChrX:153175477 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.2768G>A (p.Arg923Gln) single nucleotide variant Inborn genetic diseases [RCV002987979] ChrX:153907802 [GRCh38]
ChrX:153173256 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.2110C>A (p.Pro704Thr) single nucleotide variant Inborn genetic diseases [RCV003220489] ChrX:153910217 [GRCh38]
ChrX:153175671 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.10C>T (p.His4Tyr) single nucleotide variant Inborn genetic diseases [RCV003196288] ChrX:153926193 [GRCh38]
ChrX:153191647 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.1000C>T (p.Arg334Cys) single nucleotide variant Inborn genetic diseases [RCV003173790] ChrX:153918864 [GRCh38]
ChrX:153184318 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.956C>G (p.Ala319Gly) single nucleotide variant Inborn genetic diseases [RCV003214808] ChrX:153918908 [GRCh38]
ChrX:153184362 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.2489C>G (p.Ala830Gly) single nucleotide variant Inborn genetic diseases [RCV003202410] ChrX:153909461 [GRCh38]
ChrX:153174915 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.2729C>T (p.Pro910Leu) single nucleotide variant Inborn genetic diseases [RCV003188764] ChrX:153907841 [GRCh38]
ChrX:153173295 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.1601A>G (p.Asn534Ser) single nucleotide variant Inborn genetic diseases [RCV003196189] ChrX:153911131 [GRCh38]
ChrX:153176585 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.2437G>A (p.Ala813Thr) single nucleotide variant Inborn genetic diseases [RCV003173978] ChrX:153909513 [GRCh38]
ChrX:153174967 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.1756C>T (p.Arg586Trp) single nucleotide variant Inborn genetic diseases [RCV003207685] ChrX:153910760 [GRCh38]
ChrX:153176214 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.1779C>A (p.Phe593Leu) single nucleotide variant Inborn genetic diseases [RCV003345624] ChrX:153910737 [GRCh38]
ChrX:153176191 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.197G>A (p.Gly66Asp) single nucleotide variant Inborn genetic diseases [RCV003352378] ChrX:153921680 [GRCh38]
ChrX:153187133 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.2162C>T (p.Ala721Val) single nucleotide variant Inborn genetic diseases [RCV003373972] ChrX:153910080 [GRCh38]
ChrX:153175534 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.2521A>C (p.Thr841Pro) single nucleotide variant Inborn genetic diseases [RCV003350371] ChrX:153909156 [GRCh38]
ChrX:153174610 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.220T>A (p.Phe74Ile) single nucleotide variant Inborn genetic diseases [RCV003361738] ChrX:153921657 [GRCh38]
ChrX:153187110 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.220T>C (p.Phe74Leu) single nucleotide variant Inborn genetic diseases [RCV003350031] ChrX:153921657 [GRCh38]
ChrX:153187110 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:152941303-153549189)x2 copy number gain not provided [RCV003483987] ChrX:152941303..153549189 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152707335-153624154)x2 copy number gain not provided [RCV003483984] ChrX:152707335..153624154 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1 copy number loss not provided [RCV003483929] ChrX:118576752..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq28(chrX:148598351-154943978)x1 copy number loss not provided [RCV003483936] ChrX:148598351..154943978 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152916854-154775938)x2 copy number gain not provided [RCV003483986] ChrX:152916854..154775938 [GRCh37]
ChrX:Xq28
pathogenic
NM_001666.5(ARHGAP4):c.2560C>T (p.Arg854Cys) single nucleotide variant not provided [RCV003432629] ChrX:153909117 [GRCh38]
ChrX:153174571 [GRCh37]
ChrX:Xq28
likely benign
NM_001666.5(ARHGAP4):c.1734C>T (p.Ala578=) single nucleotide variant not provided [RCV003432635] ChrX:153910782 [GRCh38]
ChrX:153176236 [GRCh37]
ChrX:Xq28
likely benign
NM_001666.5(ARHGAP4):c.1242C>G (p.Leu414=) single nucleotide variant not provided [RCV003432636] ChrX:153913493 [GRCh38]
ChrX:153178947 [GRCh37]
ChrX:Xq28
likely benign
NM_001666.5(ARHGAP4):c.864G>A (p.Thr288=) single nucleotide variant not provided [RCV003432639] ChrX:153919000 [GRCh38]
ChrX:153184454 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1 copy number loss not provided [RCV003483930] ChrX:119071609..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
NM_001666.5(ARHGAP4):c.2533G>A (p.Ala845Thr) single nucleotide variant not provided [RCV003432630] ChrX:153909144 [GRCh38]
ChrX:153174598 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.2412C>A (p.Ala804=) single nucleotide variant not provided [RCV003432631] ChrX:153909743 [GRCh38]
ChrX:153175197 [GRCh37]
ChrX:Xq28
likely benign
NM_001666.5(ARHGAP4):c.2217C>A (p.Pro739=) single nucleotide variant not provided [RCV003432634] ChrX:153910025 [GRCh38]
ChrX:153175479 [GRCh37]
ChrX:Xq28
likely benign
NM_001666.5(ARHGAP4):c.2244C>T (p.Val748=) single nucleotide variant not provided [RCV003432633] ChrX:153909911 [GRCh38]
ChrX:153175365 [GRCh37]
ChrX:Xq28
likely benign
NM_001666.5(ARHGAP4):c.682-354G>A single nucleotide variant not provided [RCV003432640] ChrX:153919637 [GRCh38]
ChrX:153185091 [GRCh37]
ChrX:Xq28
likely benign
NM_001666.5(ARHGAP4):c.2801C>T (p.Ser934Phe) single nucleotide variant not provided [RCV003432628] ChrX:153907769 [GRCh38]
ChrX:153173223 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001666.5(ARHGAP4):c.2409C>T (p.Pro803=) single nucleotide variant not provided [RCV003432632] ChrX:153909746 [GRCh38]
ChrX:153175200 [GRCh37]
ChrX:Xq28
likely benign
NM_001666.5(ARHGAP4):c.2822C>T (p.Thr941Met) single nucleotide variant not provided [RCV003432627] ChrX:153907748 [GRCh38]
ChrX:153173202 [GRCh37]
ChrX:Xq28
likely benign
NM_001666.5(ARHGAP4):c.1032+3G>A single nucleotide variant not provided [RCV003432637] ChrX:153918829 [GRCh38]
ChrX:153184283 [GRCh37]
ChrX:Xq28
likely benign
NM_001666.5(ARHGAP4):c.997C>T (p.Leu333=) single nucleotide variant not provided [RCV003432638] ChrX:153918867 [GRCh38]
ChrX:153184321 [GRCh37]
ChrX:Xq28
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:11292
Count of miRNA genes:1181
Interacting mature miRNAs:1548
Transcripts:ENST00000350060, ENST00000370016, ENST00000370028, ENST00000393721, ENST00000404127, ENST00000418750, ENST00000420383, ENST00000422091, ENST00000422918, ENST00000442172, ENST00000442262, ENST00000454164, ENST00000460782, ENST00000461052, ENST00000461739, ENST00000463905, ENST00000466928, ENST00000467421, ENST00000470209, ENST00000470979, ENST00000488269, ENST00000494302, ENST00000494397, ENST00000494813, ENST00000537206
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
ECD01663  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,174,171 - 153,175,028UniSTSGRCh37
Build 36X152,827,365 - 152,828,222RGDNCBI36
CeleraX153,407,885 - 153,408,744RGD
Cytogenetic MapXq28UniSTS
ECD01891  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,187,335 - 153,188,184UniSTSGRCh37
Build 36X152,840,529 - 152,841,378RGDNCBI36
CeleraX153,421,056 - 153,421,905RGD
Cytogenetic MapXq28UniSTS
HuRefX141,839,962 - 141,840,843UniSTS
ECD02574  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,185,570 - 153,186,395UniSTSGRCh37
Build 36X152,838,764 - 152,839,589RGDNCBI36
CeleraX153,419,289 - 153,420,114RGD
Cytogenetic MapXq28UniSTS
HuRefX141,838,195 - 141,839,020UniSTS
ECD02593  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,172,454 - 153,173,278UniSTSGRCh37
Build 36X152,825,648 - 152,826,472RGDNCBI36
CeleraX153,406,167 - 153,406,991RGD
Cytogenetic MapXq28UniSTS
HuRefX141,823,854 - 141,824,678UniSTS
ECD03313  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,177,776 - 153,178,575UniSTSGRCh37
Build 36X152,830,970 - 152,831,769RGDNCBI36
CeleraX153,411,493 - 153,412,293RGD
Cytogenetic MapXq28UniSTS
HuRefX141,830,575 - 141,831,375UniSTS
ECD03408  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,192,627 - 153,193,423UniSTSGRCh37
Build 36X152,845,821 - 152,846,617RGDNCBI36
CeleraX153,426,344 - 153,427,140RGD
Cytogenetic MapXq28UniSTS
HuRefX141,845,285 - 141,846,081UniSTS
ECD03466  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,173,317 - 153,174,111UniSTSGRCh37
Build 36X152,826,511 - 152,827,305RGDNCBI36
CeleraX153,407,030 - 153,407,824RGD
Cytogenetic MapXq28UniSTS
ECD03493  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,178,724 - 153,179,517UniSTSGRCh37
Build 36X152,831,918 - 152,832,711RGDNCBI36
CeleraX153,412,442 - 153,413,235RGD
Cytogenetic MapXq28UniSTS
HuRefX141,831,524 - 141,832,140UniSTS
ECD05564  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,175,950 - 153,176,682UniSTSGRCh37
Build 36X152,829,144 - 152,829,876RGDNCBI36
CeleraX153,409,667 - 153,410,399RGD
Cytogenetic MapXq28UniSTS
ECD06049  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,188,494 - 153,189,213UniSTSGRCh37
GRCh37X153,188,494 - 153,190,065UniSTSGRCh37
Build 36X152,841,688 - 152,842,407RGDNCBI36
CeleraX153,422,215 - 153,423,786UniSTS
CeleraX153,422,215 - 153,422,934RGD
Cytogenetic MapXq28UniSTS
HuRefX141,841,153 - 141,841,872UniSTS
HuRefX141,841,153 - 141,842,724UniSTS
ECD06262  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,183,696 - 153,184,409UniSTSGRCh37
Build 36X152,836,890 - 152,837,603RGDNCBI36
CeleraX153,417,415 - 153,418,128RGD
Cytogenetic MapXq28UniSTS
HuRefX141,836,321 - 141,837,034UniSTS
ECD06263  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,186,478 - 153,187,191UniSTSGRCh37
Build 36X152,839,672 - 152,840,385RGDNCBI36
CeleraX153,420,199 - 153,420,912RGD
Cytogenetic MapXq28UniSTS
HuRefX141,839,105 - 141,839,818UniSTS
ECD06489  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,175,139 - 153,175,846UniSTSGRCh37
Build 36X152,828,333 - 152,829,040RGDNCBI36
CeleraX153,408,856 - 153,409,563RGD
Cytogenetic MapXq28UniSTS
HuRefX141,828,010 - 141,828,717UniSTS
ECD06685  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,184,505 - 153,185,207UniSTSGRCh37
Build 36X152,837,699 - 152,838,401RGDNCBI36
CeleraX153,418,224 - 153,418,926RGD
Cytogenetic MapXq28UniSTS
HuRefX141,837,130 - 141,837,832UniSTS
ECD07152  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,190,054 - 153,190,743UniSTSGRCh37
Build 36X152,843,248 - 152,843,937RGDNCBI36
CeleraX153,423,775 - 153,424,464RGD
Cytogenetic MapXq28UniSTS
HuRefX141,842,713 - 141,843,402UniSTS
ECD08096  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,191,955 - 153,192,619UniSTSGRCh37
Build 36X152,845,149 - 152,845,813RGDNCBI36
CeleraX153,425,675 - 153,426,336RGD
Cytogenetic MapXq28UniSTS
HuRefX141,844,613 - 141,845,277UniSTS
ECD10046  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,167,794 - 153,168,406UniSTSGRCh37
Build 36X152,820,988 - 152,821,600RGDNCBI36
CeleraX153,401,474 - 153,402,086RGD
Cytogenetic MapXq28UniSTS
HuRefX141,825,958 - 141,826,570UniSTS
ECD14724  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,167,150 - 153,167,637UniSTSGRCh37
GRCh37X153,167,104 - 153,167,637UniSTSGRCh37
Build 36X152,820,298 - 152,820,831RGDNCBI36
CeleraX153,400,784 - 153,401,317RGD
CeleraX153,400,830 - 153,401,317UniSTS
Cytogenetic MapXq28UniSTS
HuRefX141,825,268 - 141,825,801UniSTS
HuRefX141,825,314 - 141,825,801UniSTS
ECD15241  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,190,878 - 153,191,353UniSTSGRCh37
Build 36X152,844,072 - 152,844,547RGDNCBI36
CeleraX153,424,599 - 153,425,073RGD
Cytogenetic MapXq28UniSTS
HuRefX141,843,537 - 141,844,011UniSTS
ECD19737  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,180,189 - 153,180,500UniSTSGRCh37
Build 36X152,833,383 - 152,833,694RGDNCBI36
CeleraX153,413,907 - 153,414,218RGD
Cytogenetic MapXq28UniSTS
HuRefX141,832,812 - 141,833,123UniSTS
ECD21346  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,189,586 - 153,189,838UniSTSGRCh37
Build 36X152,842,780 - 152,843,032RGDNCBI36
CeleraX153,423,307 - 153,423,559RGD
Cytogenetic MapXq28UniSTS
HuRefX141,842,245 - 141,842,497UniSTS
ECD23199  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,168,608 - 153,168,804UniSTSGRCh37
Build 36X152,821,802 - 152,821,998RGDNCBI36
CeleraX153,402,288 - 153,402,484RGD
Cytogenetic MapXq28UniSTS
HuRefX141,826,772 - 141,826,968UniSTS
REN88088  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,167,207 - 153,167,441UniSTSGRCh37
Build 36X152,820,401 - 152,820,635RGDNCBI36
CeleraX153,400,887 - 153,401,121RGD
Cytogenetic MapXq28UniSTS
HuRefX141,825,371 - 141,825,605UniSTS
REN88089  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,167,418 - 153,167,682UniSTSGRCh37
Build 36X152,820,612 - 152,820,876RGDNCBI36
CeleraX153,401,098 - 153,401,362RGD
Cytogenetic MapXq28UniSTS
HuRefX141,825,582 - 141,825,846UniSTS
REN88090  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,167,659 - 153,167,905UniSTSGRCh37
Build 36X152,820,853 - 152,821,099RGDNCBI36
CeleraX153,401,339 - 153,401,585RGD
Cytogenetic MapXq28UniSTS
HuRefX141,825,823 - 141,826,069UniSTS
REN88091  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,167,885 - 153,168,128UniSTSGRCh37
Build 36X152,821,079 - 152,821,322RGDNCBI36
CeleraX153,401,565 - 153,401,808RGD
Cytogenetic MapXq28UniSTS
HuRefX141,826,049 - 141,826,292UniSTS
REN88092  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,168,114 - 153,168,362UniSTSGRCh37
Build 36X152,821,308 - 152,821,556RGDNCBI36
CeleraX153,401,794 - 153,402,042RGD
Cytogenetic MapXq28UniSTS
HuRefX141,826,278 - 141,826,526UniSTS
REN88093  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,168,314 - 153,168,573UniSTSGRCh37
Build 36X152,821,508 - 152,821,767RGDNCBI36
CeleraX153,401,994 - 153,402,253RGD
Cytogenetic MapXq28UniSTS
HuRefX141,826,478 - 141,826,737UniSTS
REN88094  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,168,552 - 153,168,811UniSTSGRCh37
Build 36X152,821,746 - 152,822,005RGDNCBI36
CeleraX153,402,232 - 153,402,491RGD
Cytogenetic MapXq28UniSTS
HuRefX141,826,716 - 141,826,975UniSTS
REN88111  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,172,512 - 153,172,764UniSTSGRCh37
Build 36X152,825,706 - 152,825,958RGDNCBI36
CeleraX153,406,225 - 153,406,477RGD
Cytogenetic MapXq28UniSTS
HuRefX141,823,912 - 141,824,164UniSTS
REN88112  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,172,743 - 153,172,976UniSTSGRCh37
Build 36X152,825,937 - 152,826,170RGDNCBI36
CeleraX153,406,456 - 153,406,689RGD
Cytogenetic MapXq28UniSTS
HuRefX141,824,143 - 141,824,376UniSTS
REN88113  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,172,963 - 153,173,217UniSTSGRCh37
Build 36X152,826,157 - 152,826,411RGDNCBI36
CeleraX153,406,676 - 153,406,930RGD
Cytogenetic MapXq28UniSTS
HuRefX141,824,363 - 141,824,617UniSTS
REN88114  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,173,177 - 153,173,410UniSTSGRCh37
Build 36X152,826,371 - 152,826,604RGDNCBI36
CeleraX153,406,890 - 153,407,123RGD
Cytogenetic MapXq28UniSTS
HuRefX141,824,577 - 141,824,810UniSTS
REN88115  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,173,383 - 153,173,638UniSTSGRCh37
Build 36X152,826,577 - 152,826,832RGDNCBI36
CeleraX153,407,096 - 153,407,351RGD
Cytogenetic MapXq28UniSTS
HuRefX141,824,783 - 141,825,038UniSTS
REN88116  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,173,629 - 153,173,893UniSTSGRCh37
Build 36X152,826,823 - 152,827,087RGDNCBI36
CeleraX153,407,342 - 153,407,606RGD
Cytogenetic MapXq28UniSTS
REN88117  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,173,880 - 153,174,111UniSTSGRCh37
Build 36X152,827,074 - 152,827,305RGDNCBI36
CeleraX153,407,593 - 153,407,824RGD
Cytogenetic MapXq28UniSTS
REN88118  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,174,083 - 153,174,310UniSTSGRCh37
Build 36X152,827,277 - 152,827,504RGDNCBI36
CeleraX153,407,796 - 153,408,024RGD
Cytogenetic MapXq28UniSTS
REN88119  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,174,291 - 153,174,538UniSTSGRCh37
Build 36X152,827,485 - 152,827,732RGDNCBI36
CeleraX153,408,005 - 153,408,252RGD
Cytogenetic MapXq28UniSTS
HuRefX141,827,159 - 141,827,406UniSTS
REN88120  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,174,512 - 153,174,765UniSTSGRCh37
Build 36X152,827,706 - 152,827,959RGDNCBI36
CeleraX153,408,226 - 153,408,479RGD
Cytogenetic MapXq28UniSTS
HuRefX141,827,380 - 141,827,633UniSTS
REN88121  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,174,743 - 153,174,992UniSTSGRCh37
Build 36X152,827,937 - 152,828,186RGDNCBI36
CeleraX153,408,457 - 153,408,708RGD
Cytogenetic MapXq28UniSTS
HuRefX141,827,611 - 141,827,862UniSTS
REN88122  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,174,929 - 153,175,161UniSTSGRCh37
Build 36X152,828,123 - 152,828,355RGDNCBI36
CeleraX153,408,645 - 153,408,878RGD
Cytogenetic MapXq28UniSTS
HuRefX141,827,799 - 141,828,032UniSTS
REN88123  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,175,138 - 153,175,393UniSTSGRCh37
Build 36X152,828,332 - 152,828,587RGDNCBI36
CeleraX153,408,855 - 153,409,110RGD
Cytogenetic MapXq28UniSTS
HuRefX141,828,009 - 141,828,264UniSTS
REN88124  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,175,374 - 153,175,627UniSTSGRCh37
Build 36X152,828,568 - 152,828,821RGDNCBI36
CeleraX153,409,091 - 153,409,344RGD
Cytogenetic MapXq28UniSTS
HuRefX141,828,245 - 141,828,498UniSTS
REN88125  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,175,553 - 153,175,822UniSTSGRCh37
Build 36X152,828,747 - 152,829,016RGDNCBI36
CeleraX153,409,270 - 153,409,539RGD
Cytogenetic MapXq28UniSTS
HuRefX141,828,424 - 141,828,693UniSTS
REN88126  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,175,819 - 153,176,048UniSTSGRCh37
Build 36X152,829,013 - 152,829,242RGDNCBI36
CeleraX153,409,536 - 153,409,765RGD
Cytogenetic MapXq28UniSTS
HuRefX141,828,690 - 141,828,919UniSTS
REN88127  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,176,029 - 153,176,262UniSTSGRCh37
Build 36X152,829,223 - 152,829,456RGDNCBI36
CeleraX153,409,746 - 153,409,979RGD
Cytogenetic MapXq28UniSTS
HuRefX141,828,900 - 141,829,133UniSTS
REN88128  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,176,260 - 153,176,498UniSTSGRCh37
Build 36X152,829,454 - 152,829,692RGDNCBI36
CeleraX153,409,977 - 153,410,215RGD
Cytogenetic MapXq28UniSTS
REN88129  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,176,458 - 153,176,709UniSTSGRCh37
Build 36X152,829,652 - 152,829,903RGDNCBI36
CeleraX153,410,175 - 153,410,426RGD
Cytogenetic MapXq28UniSTS
REN88130  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,176,686 - 153,176,913UniSTSGRCh37
Build 36X152,829,880 - 152,830,107RGDNCBI36
CeleraX153,410,403 - 153,410,630RGD
Cytogenetic MapXq28UniSTS
REN88131  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,176,867 - 153,177,091UniSTSGRCh37
Build 36X152,830,061 - 152,830,285RGDNCBI36
CeleraX153,410,584 - 153,410,808RGD
Cytogenetic MapXq28UniSTS
REN88132  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,177,033 - 153,177,303UniSTSGRCh37
Build 36X152,830,227 - 152,830,497RGDNCBI36
CeleraX153,410,750 - 153,411,020RGD
Cytogenetic MapXq28UniSTS
HuRefX141,829,832 - 141,830,102UniSTS
REN88133  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,177,282 - 153,177,541UniSTSGRCh37
Build 36X152,830,476 - 152,830,735RGDNCBI36
CeleraX153,410,999 - 153,411,258RGD
Cytogenetic MapXq28UniSTS
HuRefX141,830,081 - 141,830,340UniSTS
REN88134  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,177,481 - 153,177,719UniSTSGRCh37
Build 36X152,830,675 - 152,830,913RGDNCBI36
CeleraX153,411,198 - 153,411,436RGD
Cytogenetic MapXq28UniSTS
HuRefX141,830,280 - 141,830,518UniSTS
REN88135  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,177,700 - 153,177,959UniSTSGRCh37
Build 36X152,830,894 - 152,831,153RGDNCBI36
CeleraX153,411,417 - 153,411,676RGD
Cytogenetic MapXq28UniSTS
HuRefX141,830,499 - 141,830,758UniSTS
REN88136  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,177,949 - 153,178,209UniSTSGRCh37
Build 36X152,831,143 - 152,831,403RGDNCBI36
CeleraX153,411,666 - 153,411,926RGD
Cytogenetic MapXq28UniSTS
HuRefX141,830,748 - 141,831,008UniSTS
REN88137  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,178,184 - 153,178,443UniSTSGRCh37
Build 36X152,831,378 - 152,831,637RGDNCBI36
CeleraX153,411,901 - 153,412,160RGD
Cytogenetic MapXq28UniSTS
HuRefX141,830,983 - 141,831,242UniSTS
REN88138  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,178,383 - 153,178,634UniSTSGRCh37
Build 36X152,831,577 - 152,831,828RGDNCBI36
CeleraX153,412,100 - 153,412,352RGD
Cytogenetic MapXq28UniSTS
HuRefX141,831,182 - 141,831,434UniSTS
REN88139  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,178,573 - 153,178,802UniSTSGRCh37
Build 36X152,831,767 - 152,831,996RGDNCBI36
CeleraX153,412,291 - 153,412,520RGD
Cytogenetic MapXq28UniSTS
HuRefX141,831,373 - 141,831,602UniSTS
REN88140  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,178,781 - 153,179,051UniSTSGRCh37
Build 36X152,831,975 - 152,832,245RGDNCBI36
CeleraX153,412,499 - 153,412,769RGD
Cytogenetic MapXq28UniSTS
REN88141  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,179,049 - 153,179,286UniSTSGRCh37
Build 36X152,832,243 - 152,832,480RGDNCBI36
CeleraX153,412,767 - 153,413,004RGD
Cytogenetic MapXq28UniSTS
REN88142  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,179,281 - 153,179,524UniSTSGRCh37
Build 36X152,832,475 - 152,832,718RGDNCBI36
CeleraX153,412,999 - 153,413,242RGD
Cytogenetic MapXq28UniSTS
HuRefX141,831,904 - 141,832,147UniSTS
REN88143  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,179,500 - 153,179,747UniSTSGRCh37
Build 36X152,832,694 - 152,832,941RGDNCBI36
CeleraX153,413,218 - 153,413,465RGD
Cytogenetic MapXq28UniSTS
HuRefX141,832,123 - 141,832,370UniSTS
REN88144  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,179,708 - 153,179,949UniSTSGRCh37
Build 36X152,832,902 - 152,833,143RGDNCBI36
CeleraX153,413,426 - 153,413,667RGD
Cytogenetic MapXq28UniSTS
HuRefX141,832,331 - 141,832,572UniSTS
REN88145  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,180,182 - 153,180,415UniSTSGRCh37
Build 36X152,833,376 - 152,833,609RGDNCBI36
CeleraX153,413,900 - 153,414,133RGD
Cytogenetic MapXq28UniSTS
HuRefX141,832,805 - 141,833,038UniSTS
REN88146  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,180,404 - 153,180,654UniSTSGRCh37
Build 36X152,833,598 - 152,833,848RGDNCBI36
CeleraX153,414,122 - 153,414,372RGD
Cytogenetic MapXq28UniSTS
HuRefX141,833,027 - 141,833,277UniSTS
REN88147  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,180,643 - 153,180,897UniSTSGRCh37
Build 36X152,833,837 - 152,834,091RGDNCBI36
CeleraX153,414,361 - 153,414,616RGD
Cytogenetic MapXq28UniSTS
HuRefX141,833,266 - 141,833,521UniSTS
REN88148  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,180,839 - 153,181,101UniSTSGRCh37
Build 36X152,834,033 - 152,834,295RGDNCBI36
CeleraX153,414,558 - 153,414,820RGD
Cytogenetic MapXq28UniSTS
HuRefX141,833,463 - 141,833,725UniSTS
REN88149  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,181,123 - 153,181,370UniSTSGRCh37
GRCh37X153,181,123 - 153,182,192UniSTSGRCh37
Build 36X152,834,317 - 152,834,564RGDNCBI36
CeleraX153,414,842 - 153,415,911UniSTS
CeleraX153,414,842 - 153,415,089RGD
Cytogenetic MapXq28UniSTS
HuRefX141,833,747 - 141,833,994UniSTS
HuRefX141,833,747 - 141,834,816UniSTS
REN88150  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,181,324 - 153,181,583UniSTSGRCh37
Build 36X152,834,518 - 152,834,777RGDNCBI36
CeleraX153,415,043 - 153,415,302RGD
Cytogenetic MapXq28UniSTS
HuRefX141,833,948 - 141,834,207UniSTS
REN88151  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,181,581 - 153,181,831UniSTSGRCh37
Build 36X152,834,775 - 152,835,025RGDNCBI36
CeleraX153,415,300 - 153,415,550RGD
Cytogenetic MapXq28UniSTS
HuRefX141,834,205 - 141,834,455UniSTS
REN88152  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,181,802 - 153,182,057UniSTSGRCh37
Build 36X152,834,996 - 152,835,251RGDNCBI36
CeleraX153,415,521 - 153,415,776RGD
Cytogenetic MapXq28UniSTS
HuRefX141,834,426 - 141,834,681UniSTS
REN88153  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,181,989 - 153,182,227UniSTSGRCh37
Build 36X152,835,183 - 152,835,421RGDNCBI36
CeleraX153,415,708 - 153,415,946RGD
Cytogenetic MapXq28UniSTS
HuRefX141,834,613 - 141,834,851UniSTS
REN88154  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,182,798 - 153,183,051UniSTSGRCh37
Build 36X152,835,992 - 152,836,245RGDNCBI36
CeleraX153,416,517 - 153,416,770RGD
Cytogenetic MapXq28UniSTS
HuRefX141,835,423 - 141,835,676UniSTS
REN88155  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,183,028 - 153,183,270UniSTSGRCh37
Build 36X152,836,222 - 152,836,464RGDNCBI36
CeleraX153,416,747 - 153,416,989RGD
Cytogenetic MapXq28UniSTS
HuRefX141,835,653 - 141,835,895UniSTS
REN88156  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,183,247 - 153,183,500UniSTSGRCh37
Build 36X152,836,441 - 152,836,694RGDNCBI36
CeleraX153,416,966 - 153,417,219RGD
Cytogenetic MapXq28UniSTS
HuRefX141,835,872 - 141,836,125UniSTS
REN88157  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,183,490 - 153,183,751UniSTSGRCh37
Build 36X152,836,684 - 152,836,945RGDNCBI36
CeleraX153,417,209 - 153,417,470RGD
Cytogenetic MapXq28UniSTS
HuRefX141,836,115 - 141,836,376UniSTS
REN88158  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,183,730 - 153,183,984UniSTSGRCh37
Build 36X152,836,924 - 152,837,178RGDNCBI36
CeleraX153,417,449 - 153,417,703RGD
Cytogenetic MapXq28UniSTS
HuRefX141,836,355 - 141,836,609UniSTS
REN88159  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,183,961 - 153,184,208UniSTSGRCh37
Build 36X152,837,155 - 152,837,402RGDNCBI36
CeleraX153,417,680 - 153,417,927RGD
Cytogenetic MapXq28UniSTS
HuRefX141,836,586 - 141,836,833UniSTS
REN88160  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,184,192 - 153,184,439UniSTSGRCh37
Build 36X152,837,386 - 152,837,633RGDNCBI36
CeleraX153,417,911 - 153,418,158RGD
Cytogenetic MapXq28UniSTS
HuRefX141,836,817 - 141,837,064UniSTS
REN88161  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,184,386 - 153,184,629UniSTSGRCh37
Build 36X152,837,580 - 152,837,823RGDNCBI36
CeleraX153,418,105 - 153,418,348RGD
Cytogenetic MapXq28UniSTS
HuRefX141,837,011 - 141,837,254UniSTS
REN88162  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,184,620 - 153,184,859UniSTSGRCh37
Build 36X152,837,814 - 152,838,053RGDNCBI36
CeleraX153,418,339 - 153,418,578RGD
Cytogenetic MapXq28UniSTS
HuRefX141,837,245 - 141,837,484UniSTS
REN88163  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,184,836 - 153,185,086UniSTSGRCh37
Build 36X152,838,030 - 152,838,280RGDNCBI36
CeleraX153,418,555 - 153,418,805RGD
Cytogenetic MapXq28UniSTS
HuRefX141,837,461 - 141,837,711UniSTS
REN88164  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,184,993 - 153,185,230UniSTSGRCh37
Build 36X152,838,187 - 152,838,424RGDNCBI36
CeleraX153,418,712 - 153,418,949RGD
Cytogenetic MapXq28UniSTS
HuRefX141,837,618 - 141,837,855UniSTS
REN88165  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,185,092 - 153,185,352UniSTSGRCh37
Build 36X152,838,286 - 152,838,546RGDNCBI36
CeleraX153,418,811 - 153,419,071RGD
Cytogenetic MapXq28UniSTS
HuRefX141,837,717 - 141,837,977UniSTS
REN88166  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,185,522 - 153,185,746UniSTSGRCh37
Build 36X152,838,716 - 152,838,940RGDNCBI36
CeleraX153,419,241 - 153,419,465RGD
Cytogenetic MapXq28UniSTS
HuRefX141,838,147 - 141,838,371UniSTS
REN88167  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,185,737 - 153,185,967UniSTSGRCh37
Build 36X152,838,931 - 152,839,161RGDNCBI36
CeleraX153,419,456 - 153,419,686RGD
Cytogenetic MapXq28UniSTS
HuRefX141,838,362 - 141,838,592UniSTS
REN88168  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,185,936 - 153,186,168UniSTSGRCh37
Build 36X152,839,130 - 152,839,362RGDNCBI36
CeleraX153,419,655 - 153,419,887RGD
Cytogenetic MapXq28UniSTS
HuRefX141,838,561 - 141,838,793UniSTS
REN88169  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,186,150 - 153,186,400UniSTSGRCh37
Build 36X152,839,344 - 152,839,594RGDNCBI36
CeleraX153,419,869 - 153,420,119RGD
Cytogenetic MapXq28UniSTS
HuRefX141,838,775 - 141,839,025UniSTS
REN88170  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,186,367 - 153,186,616UniSTSGRCh37
Build 36X152,839,561 - 152,839,810RGDNCBI36
CeleraX153,420,086 - 153,420,337RGD
Cytogenetic MapXq28UniSTS
HuRefX141,838,992 - 141,839,243UniSTS
REN88171  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,186,609 - 153,186,857UniSTSGRCh37
Build 36X152,839,803 - 152,840,051RGDNCBI36
CeleraX153,420,330 - 153,420,578RGD
Cytogenetic MapXq28UniSTS
HuRefX141,839,236 - 141,839,484UniSTS
REN88172  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,186,839 - 153,187,068UniSTSGRCh37
Build 36X152,840,033 - 152,840,262RGDNCBI36
CeleraX153,420,560 - 153,420,789RGD
Cytogenetic MapXq28UniSTS
HuRefX141,839,466 - 141,839,695UniSTS
REN88173  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,186,949 - 153,187,194UniSTSGRCh37
Build 36X152,840,143 - 152,840,388RGDNCBI36
CeleraX153,420,670 - 153,420,915RGD
Cytogenetic MapXq28UniSTS
HuRefX141,839,576 - 141,839,821UniSTS
REN88174  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,187,172 - 153,187,431UniSTSGRCh37
Build 36X152,840,366 - 152,840,625RGDNCBI36
CeleraX153,420,893 - 153,421,152RGD
Cytogenetic MapXq28UniSTS
HuRefX141,839,799 - 141,840,058UniSTS
REN88175  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,187,413 - 153,187,638UniSTSGRCh37
Build 36X152,840,607 - 152,840,832RGDNCBI36
CeleraX153,421,134 - 153,421,359RGD
Cytogenetic MapXq28UniSTS
HuRefX141,840,040 - 141,840,265UniSTS
REN88176  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,187,610 - 153,187,868UniSTSGRCh37
Build 36X152,840,804 - 152,841,062RGDNCBI36
CeleraX153,421,331 - 153,421,589RGD
Cytogenetic MapXq28UniSTS
REN88177  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,187,841 - 153,188,106UniSTSGRCh37
Build 36X152,841,035 - 152,841,300RGDNCBI36
CeleraX153,421,562 - 153,421,827RGD
Cytogenetic MapXq28UniSTS
REN88178  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,188,083 - 153,188,335UniSTSGRCh37
Build 36X152,841,277 - 152,841,529RGDNCBI36
CeleraX153,421,804 - 153,422,056RGD
Cytogenetic MapXq28UniSTS
HuRefX141,840,742 - 141,840,994UniSTS
REN88179  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,188,328 - 153,188,585UniSTSGRCh37
Build 36X152,841,522 - 152,841,779RGDNCBI36
CeleraX153,422,049 - 153,422,306RGD
Cytogenetic MapXq28UniSTS
HuRefX141,840,987 - 141,841,244UniSTS
REN88180  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,188,572 - 153,188,833UniSTSGRCh37
Build 36X152,841,766 - 152,842,027RGDNCBI36
CeleraX153,422,293 - 153,422,554RGD
Cytogenetic MapXq28UniSTS
HuRefX141,841,231 - 141,841,492UniSTS
REN88181  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,188,822 - 153,189,048UniSTSGRCh37
Build 36X152,842,016 - 152,842,242RGDNCBI36
CeleraX153,422,543 - 153,422,769RGD
Cytogenetic MapXq28UniSTS
HuRefX141,841,481 - 141,841,707UniSTS
REN88182  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,189,025 - 153,189,271UniSTSGRCh37
Build 36X152,842,219 - 152,842,465RGDNCBI36
CeleraX153,422,746 - 153,422,992RGD
Cytogenetic MapXq28UniSTS
HuRefX141,841,684 - 141,841,930UniSTS
REN88183  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,189,431 - 153,189,663UniSTSGRCh37
Build 36X152,842,625 - 152,842,857RGDNCBI36
CeleraX153,423,152 - 153,423,384RGD
Cytogenetic MapXq28UniSTS
HuRefX141,842,090 - 141,842,322UniSTS
REN88184  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,189,655 - 153,189,880UniSTSGRCh37
Build 36X152,842,849 - 152,843,074RGDNCBI36
CeleraX153,423,376 - 153,423,601RGD
Cytogenetic MapXq28UniSTS
HuRefX141,842,314 - 141,842,539UniSTS
REN88185  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,189,878 - 153,190,141UniSTSGRCh37
Build 36X152,843,072 - 152,843,335RGDNCBI36
CeleraX153,423,599 - 153,423,862RGD
Cytogenetic MapXq28UniSTS
HuRefX141,842,537 - 141,842,800UniSTS
REN88186  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,190,119 - 153,190,358UniSTSGRCh37
Build 36X152,843,313 - 152,843,552RGDNCBI36
CeleraX153,423,840 - 153,424,079RGD
Cytogenetic MapXq28UniSTS
HuRefX141,842,778 - 141,843,017UniSTS
REN88187  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,190,335 - 153,190,584UniSTSGRCh37
Build 36X152,843,529 - 152,843,778RGDNCBI36
CeleraX153,424,056 - 153,424,305RGD
Cytogenetic MapXq28UniSTS
HuRefX141,842,994 - 141,843,243UniSTS
REN88188  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,190,556 - 153,190,794UniSTSGRCh37
Build 36X152,843,750 - 152,843,988RGDNCBI36
CeleraX153,424,277 - 153,424,515RGD
Cytogenetic MapXq28UniSTS
HuRefX141,843,215 - 141,843,453UniSTS
REN88189  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,190,761 - 153,191,012UniSTSGRCh37
Build 36X152,843,955 - 152,844,206RGDNCBI36
CeleraX153,424,482 - 153,424,733RGD
Cytogenetic MapXq28UniSTS
HuRefX141,843,420 - 141,843,671UniSTS
REN88190  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,190,999 - 153,191,251UniSTSGRCh37
Build 36X152,844,193 - 152,844,445RGDNCBI36
CeleraX153,424,720 - 153,424,972RGD
Cytogenetic MapXq28UniSTS
HuRefX141,843,658 - 141,843,910UniSTS
REN88191  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,191,224 - 153,191,466UniSTSGRCh37
Build 36X152,844,418 - 152,844,660RGDNCBI36
CeleraX153,424,945 - 153,425,186RGD
Cytogenetic MapXq28UniSTS
HuRefX141,843,883 - 141,844,124UniSTS
REN88192  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,191,398 - 153,191,622UniSTSGRCh37
Build 36X152,844,592 - 152,844,816RGDNCBI36
CeleraX153,425,118 - 153,425,342RGD
Cytogenetic MapXq28UniSTS
HuRefX141,844,056 - 141,844,280UniSTS
REN88193  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,191,999 - 153,192,228UniSTSGRCh37
Build 36X152,845,193 - 152,845,422RGDNCBI36
CeleraX153,425,719 - 153,425,945RGD
Cytogenetic MapXq28UniSTS
HuRefX141,844,657 - 141,844,886UniSTS
REN88194  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,192,213 - 153,192,440UniSTSGRCh37
Build 36X152,845,407 - 152,845,634RGDNCBI36
CeleraX153,425,930 - 153,426,157RGD
Cytogenetic MapXq28UniSTS
HuRefX141,844,871 - 141,845,098UniSTS
REN88195  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,192,422 - 153,192,673UniSTSGRCh37
Build 36X152,845,616 - 152,845,867RGDNCBI36
CeleraX153,426,139 - 153,426,390RGD
Cytogenetic MapXq28UniSTS
HuRefX141,845,080 - 141,845,331UniSTS
REN88196  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,192,664 - 153,192,906UniSTSGRCh37
Build 36X152,845,858 - 152,846,100RGDNCBI36
CeleraX153,426,381 - 153,426,623RGD
Cytogenetic MapXq28UniSTS
HuRefX141,845,322 - 141,845,564UniSTS
REN88197  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,192,863 - 153,193,123UniSTSGRCh37
Build 36X152,846,057 - 152,846,317RGDNCBI36
CeleraX153,426,580 - 153,426,840RGD
Cytogenetic MapXq28UniSTS
HuRefX141,845,521 - 141,845,781UniSTS
REN88198  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,193,118 - 153,193,360UniSTSGRCh37
Build 36X152,846,312 - 152,846,554RGDNCBI36
CeleraX153,426,835 - 153,427,077RGD
Cytogenetic MapXq28UniSTS
HuRefX141,845,776 - 141,846,018UniSTS
REN88199  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,193,282 - 153,193,507UniSTSGRCh37
Build 36X152,846,476 - 152,846,701RGDNCBI36
CeleraX153,426,999 - 153,427,224RGD
Cytogenetic MapXq28UniSTS
HuRefX141,845,940 - 141,846,165UniSTS
stSG603684  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,176,682 - 153,178,105UniSTSGRCh37
Build 36X152,829,876 - 152,831,299RGDNCBI36
CeleraX153,410,399 - 153,411,822RGD
stSG603685  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,178,087 - 153,179,185UniSTSGRCh37
Build 36X152,831,281 - 152,832,379RGDNCBI36
CeleraX153,411,804 - 153,412,903RGD
HuRefX141,830,886 - 141,831,808UniSTS
stSG603686  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,179,225 - 153,180,447UniSTSGRCh37
Build 36X152,832,419 - 152,833,641RGDNCBI36
CeleraX153,412,943 - 153,414,165RGD
HuRefX141,831,848 - 141,833,070UniSTS
stSG603688  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,181,945 - 153,183,324UniSTSGRCh37
Build 36X152,835,139 - 152,836,518RGDNCBI36
CeleraX153,415,664 - 153,417,043RGD
HuRefX141,834,569 - 141,835,949UniSTS
stSG603689  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,183,337 - 153,184,754UniSTSGRCh37
Build 36X152,836,531 - 152,837,948RGDNCBI36
CeleraX153,417,056 - 153,418,473RGD
HuRefX141,835,962 - 141,837,379UniSTS
stSG603690  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,184,733 - 153,185,734UniSTSGRCh37
Build 36X152,837,927 - 152,838,928RGDNCBI36
CeleraX153,418,452 - 153,419,453RGD
HuRefX141,837,358 - 141,838,359UniSTS
stSG603691  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,185,717 - 153,185,914UniSTSGRCh37
Build 36X152,838,911 - 152,839,108RGDNCBI36
CeleraX153,419,436 - 153,419,633RGD
HuRefX141,838,342 - 141,838,539UniSTS
stSG603692  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,185,937 - 153,187,063UniSTSGRCh37
Build 36X152,839,131 - 152,840,257RGDNCBI36
CeleraX153,419,656 - 153,420,784RGD
HuRefX141,838,562 - 141,839,690UniSTS
stSG603693  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,187,142 - 153,188,206UniSTSGRCh37
Build 36X152,840,336 - 152,841,400RGDNCBI36
CeleraX153,420,863 - 153,421,927RGD
HuRefX141,839,769 - 141,840,865UniSTS
stSG603694  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,188,185 - 153,188,490UniSTSGRCh37
Build 36X152,841,379 - 152,841,684RGDNCBI36
CeleraX153,421,906 - 153,422,211RGD
HuRefX141,840,844 - 141,841,149UniSTS
stSG603695  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,188,494 - 153,189,605UniSTSGRCh37
Build 36X152,841,688 - 152,842,799RGDNCBI36
CeleraX153,422,215 - 153,423,326RGD
HuRefX141,841,153 - 141,842,264UniSTS
stSG603696  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,189,744 - 153,190,945UniSTSGRCh37
Build 36X152,842,938 - 152,844,139RGDNCBI36
CeleraX153,423,465 - 153,424,666RGD
HuRefX141,842,403 - 141,843,604UniSTS
stSG603698  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,192,244 - 153,193,380UniSTSGRCh37
Build 36X152,845,438 - 152,846,574RGDNCBI36
CeleraX153,425,961 - 153,427,097RGD
HuRefX141,844,902 - 141,846,038UniSTS
DXS8147  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,172,842 - 153,172,964UniSTSGRCh37
Build 36X152,826,036 - 152,826,158RGDNCBI36
CeleraX153,406,555 - 153,406,677RGD
Cytogenetic MapXq28UniSTS
HuRefX141,824,242 - 141,824,364UniSTS
RH25354  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,173,092 - 153,173,208UniSTSGRCh37
Build 36X152,826,286 - 152,826,402RGDNCBI36
CeleraX153,406,805 - 153,406,921RGD
Cytogenetic MapXq28UniSTS
HuRefX141,824,492 - 141,824,608UniSTS
GeneMap99-GB4 RH MapX350.95UniSTS
ARHGAP4_4362  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,172,840 - 153,173,405UniSTSGRCh37
Build 36X152,826,034 - 152,826,599RGDNCBI36
CeleraX153,406,553 - 153,407,118RGD
HuRefX141,824,240 - 141,824,805UniSTS


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 1919 1879 1272 262 1935 138 2195 792 1755 272 1197 1362 125 1194 1159 1
Low 499 1110 442 356 15 321 2141 1398 1958 140 243 221 44 1 10 1629 4 2
Below cutoff 18 12 6 1 6 20 5 17 7 16 30 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001164741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AI249937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY183123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D50921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LS482301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U52112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X78817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z68128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000350060   ⟹   ENSP00000203786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,907,378 - 153,926,264 (-)Ensembl
RefSeq Acc Id: ENST00000370016   ⟹   ENSP00000359033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,907,454 - 153,926,244 (-)Ensembl
RefSeq Acc Id: ENST00000370028   ⟹   ENSP00000359045
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,907,376 - 153,926,260 (-)Ensembl
RefSeq Acc Id: ENST00000393721   ⟹   ENSP00000377322
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,907,367 - 153,926,254 (-)Ensembl
RefSeq Acc Id: ENST00000404127   ⟹   ENSP00000385042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,907,469 - 153,926,305 (-)Ensembl
RefSeq Acc Id: ENST00000418750   ⟹   ENSP00000411712
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,918,940 - 153,921,404 (-)Ensembl
RefSeq Acc Id: ENST00000420383   ⟹   ENSP00000397533
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,907,377 - 153,926,244 (-)Ensembl
RefSeq Acc Id: ENST00000422091   ⟹   ENSP00000413782
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,920,715 - 153,926,860 (-)Ensembl
RefSeq Acc Id: ENST00000422918   ⟹   ENSP00000398019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,913,228 - 153,920,631 (-)Ensembl
RefSeq Acc Id: ENST00000442172   ⟹   ENSP00000408656
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,909,741 - 153,912,785 (-)Ensembl
RefSeq Acc Id: ENST00000442262   ⟹   ENSP00000398259
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,920,708 - 153,928,419 (-)Ensembl
RefSeq Acc Id: ENST00000454164   ⟹   ENSP00000412437
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,909,468 - 153,911,101 (-)Ensembl
RefSeq Acc Id: ENST00000460782
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,920,412 - 153,921,400 (-)Ensembl
RefSeq Acc Id: ENST00000461052   ⟹   ENSP00000473840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,918,842 - 153,926,757 (-)Ensembl
RefSeq Acc Id: ENST00000461739
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,909,819 - 153,910,519 (-)Ensembl
RefSeq Acc Id: ENST00000463905
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,913,524 - 153,914,253 (-)Ensembl
RefSeq Acc Id: ENST00000466928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,907,439 - 153,909,658 (-)Ensembl
RefSeq Acc Id: ENST00000467421
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,909,508 - 153,910,871 (-)Ensembl
RefSeq Acc Id: ENST00000470209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,907,454 - 153,926,244 (-)Ensembl
RefSeq Acc Id: ENST00000470979
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,920,739 - 153,928,354 (-)Ensembl
RefSeq Acc Id: ENST00000488269   ⟹   ENSP00000473936
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,918,962 - 153,922,248 (-)Ensembl
RefSeq Acc Id: ENST00000494302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,907,454 - 153,926,244 (-)Ensembl
RefSeq Acc Id: ENST00000494397
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,907,415 - 153,912,737 (-)Ensembl
RefSeq Acc Id: ENST00000494813
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,913,210 - 153,934,999 (-)Ensembl
RefSeq Acc Id: ENST00000700282   ⟹   ENSP00000514915
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,907,952 - 153,921,662 (-)Ensembl
RefSeq Acc Id: NM_001164741   ⟹   NP_001158213
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,907,378 - 153,926,264 (-)NCBI
GRCh37X153,172,830 - 153,191,777 (-)NCBI
CeleraX153,406,543 - 153,425,434 (-)RGD
HuRefX141,824,230 - 141,844,372 (-)ENTREZGENE
CHM1_1X153,047,278 - 153,066,168 (-)NCBI
T2T-CHM13v2.0X152,181,090 - 152,199,981 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001666   ⟹   NP_001657
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,907,378 - 153,926,264 (-)NCBI
GRCh37X153,172,830 - 153,191,777 (-)NCBI
Build 36X152,826,025 - 152,844,892 (-)NCBI Archive
CeleraX153,406,543 - 153,425,434 (-)RGD
HuRefX141,824,230 - 141,844,372 (-)ENTREZGENE
CHM1_1X153,047,278 - 153,066,168 (-)NCBI
T2T-CHM13v2.0X152,181,090 - 152,199,981 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001657   ⟸   NM_001666
- Peptide Label: isoform 2
- UniProtKB: Q14144 (UniProtKB/Swiss-Prot),   Q86UY3 (UniProtKB/Swiss-Prot),   P98171 (UniProtKB/Swiss-Prot),   Q9UGE8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001158213   ⟸   NM_001164741
- Peptide Label: isoform 1
- UniProtKB: A0A2X0SF61 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000359033   ⟸   ENST00000370016
RefSeq Acc Id: ENSP00000359045   ⟸   ENST00000370028
RefSeq Acc Id: ENSP00000412437   ⟸   ENST00000454164
RefSeq Acc Id: ENSP00000408656   ⟸   ENST00000442172
RefSeq Acc Id: ENSP00000398259   ⟸   ENST00000442262
RefSeq Acc Id: ENSP00000203786   ⟸   ENST00000350060
RefSeq Acc Id: ENSP00000411712   ⟸   ENST00000418750
RefSeq Acc Id: ENSP00000385042   ⟸   ENST00000404127
RefSeq Acc Id: ENSP00000377322   ⟸   ENST00000393721
RefSeq Acc Id: ENSP00000397533   ⟸   ENST00000420383
RefSeq Acc Id: ENSP00000473936   ⟸   ENST00000488269
RefSeq Acc Id: ENSP00000473840   ⟸   ENST00000461052
RefSeq Acc Id: ENSP00000398019   ⟸   ENST00000422918
RefSeq Acc Id: ENSP00000413782   ⟸   ENST00000422091
RefSeq Acc Id: ENSP00000514915   ⟸   ENST00000700282
Protein Domains
F-BAR   Rho-GAP   SH3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P98171-F1-model_v2 AlphaFold P98171 1-946 view protein structure

Promoters
RGD ID:6808996
Promoter ID:HG_KWN:68580
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000061122,   OTTHUMT00000061123,   OTTHUMT00000061124,   OTTHUMT00000061125,   OTTHUMT00000316202,   UC004FJJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,827,791 - 152,829,857 (-)MPROMDB
RGD ID:6808497
Promoter ID:HG_KWN:68581
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000061126,   OTTHUMT00000127795
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,831,606 - 152,832,257 (-)MPROMDB
RGD ID:6808494
Promoter ID:HG_KWN:68583
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Jurkat,   Lymphoblastoid
Transcripts:OTTHUMT00000127791
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,838,861 - 152,840,147 (-)MPROMDB
RGD ID:6808496
Promoter ID:HG_KWN:68584
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000316210,   OTTHUMT00000316211
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,840,356 - 152,840,962 (-)MPROMDB
RGD ID:6808493
Promoter ID:HG_KWN:68585
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000061120
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,840,771 - 152,841,872 (-)MPROMDB
RGD ID:6808679
Promoter ID:HG_KWN:68586
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000370016,   ENST00000370028,   ENST00000393721,   NM_001666,   OTTHUMT00000061118,   OTTHUMT00000127571,   OTTHUMT00000127792,   OTTHUMT00000127793,   OTTHUMT00000127794,   OTTHUMT00000316209
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,844,821 - 152,846,247 (-)MPROMDB
RGD ID:6808495
Promoter ID:HG_KWN:68587
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000316207,   OTTHUMT00000316208
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,846,721 - 152,847,347 (-)MPROMDB
RGD ID:6808706
Promoter ID:HG_KWN:68590
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000370009,   ENST00000370011,   ENST00000393710,   ENST00000393712,   OTTHUMT00000061108,   OTTHUMT00000061110,   OTTHUMT00000061113,   OTTHUMT00000061114,   OTTHUMT00000061115,   OTTHUMT00000130128,   OTTHUMT00000130130,   OTTHUMT00000130131,   OTTHUMT00000316205,   OTTHUMT00000316206
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,853,576 - 152,854,357 (-)MPROMDB
RGD ID:13628548
Promoter ID:EPDNEW_H29512
Type:initiation region
Name:ARHGAP4_3
Description:Rho GTPase activating protein 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29513  EPDNEW_H29514  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,907,944 - 153,908,004EPDNEW
RGD ID:13628550
Promoter ID:EPDNEW_H29513
Type:initiation region
Name:ARHGAP4_2
Description:Rho GTPase activating protein 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29512  EPDNEW_H29514  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,909,191 - 153,909,251EPDNEW
RGD ID:13628552
Promoter ID:EPDNEW_H29514
Type:initiation region
Name:ARHGAP4_1
Description:Rho GTPase activating protein 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29512  EPDNEW_H29513  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,926,264 - 153,926,324EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:674 AgrOrtholog
COSMIC ARHGAP4 COSMIC
Ensembl Genes ENSG00000089820 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000350060 ENTREZGENE
  ENST00000350060.10 UniProtKB/Swiss-Prot
  ENST00000370016.5 UniProtKB/TrEMBL
  ENST00000370028 ENTREZGENE
  ENST00000370028.7 UniProtKB/Swiss-Prot
  ENST00000393721.5 UniProtKB/TrEMBL
  ENST00000404127.6 UniProtKB/TrEMBL
  ENST00000418750.5 UniProtKB/TrEMBL
  ENST00000420383.5 UniProtKB/TrEMBL
  ENST00000422091.1 UniProtKB/TrEMBL
  ENST00000422918.5 UniProtKB/TrEMBL
  ENST00000442172.1 UniProtKB/TrEMBL
  ENST00000442262.5 UniProtKB/TrEMBL
  ENST00000454164.5 UniProtKB/TrEMBL
  ENST00000461052.5 UniProtKB/TrEMBL
  ENST00000700282.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.555.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.1270.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 Domains UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000089820 GTEx
HGNC ID HGNC:674 ENTREZGENE
Human Proteome Map ARHGAP4 Human Proteome Map
InterPro AH/BAR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  F_BAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FCH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rho_GTPase_activation_prot UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGAP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  srGAP4_SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:393 UniProtKB/Swiss-Prot
NCBI Gene 393 ENTREZGENE
OMIM 300023 OMIM
PANTHER RHO GTPASE-ACTIVATING PROTEIN 4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SLIT-ROBO RHO GTPASE ACTIVATING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24958 PharmGKB
PROSITE F_BAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RHOGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF103657 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50044 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0B4J1X7_HUMAN UniProtKB/TrEMBL
  A0A2X0SF61 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TPJ2_HUMAN UniProtKB/TrEMBL
  C9J5M2_HUMAN UniProtKB/TrEMBL
  C9JLA8_HUMAN UniProtKB/TrEMBL
  E7EQN5_HUMAN UniProtKB/TrEMBL
  E9PCM6_HUMAN UniProtKB/TrEMBL
  F8WAR0_HUMAN UniProtKB/TrEMBL
  H7C120_HUMAN UniProtKB/TrEMBL
  H7C2Z8_HUMAN UniProtKB/TrEMBL
  H7C3G3_HUMAN UniProtKB/TrEMBL
  H7C3K8_HUMAN UniProtKB/TrEMBL
  P98171 ENTREZGENE
  Q14144 ENTREZGENE
  Q6PJ34_HUMAN UniProtKB/TrEMBL
  Q86UY3 ENTREZGENE
  Q9UGE8 ENTREZGENE, UniProtKB/TrEMBL
  RHG04_HUMAN UniProtKB/Swiss-Prot
  S4R314_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q14144 UniProtKB/Swiss-Prot
  Q86UY3 UniProtKB/Swiss-Prot