ARHGAP6 (Rho GTPase activating protein 6) - Rat Genome Database

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Gene: ARHGAP6 (Rho GTPase activating protein 6) Homo sapiens
Analyze
Symbol: ARHGAP6
Name: Rho GTPase activating protein 6
RGD ID: 1349829
HGNC Page HGNC
Description: Exhibits phospholipase activator activity and phospholipase binding activity. Involved in activation of phospholipase C activity; negative regulation of focal adhesion assembly; and negative regulation of stress fiber assembly. Localizes to cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: rho GTPase-activating protein 6; rho-type GTPase-activating protein 6; Rho-type GTPase-activating protein RhoGAPX-1; RHOGAP6; RHOGAPX-1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX11,117,651 - 11,665,920 (-)EnsemblGRCh38hg38GRCh38
GRCh38X11,137,544 - 11,665,920 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X11,155,664 - 11,684,040 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X11,065,584 - 11,593,742 (-)NCBINCBI36hg18NCBI36
Build 34X10,915,323 - 11,443,478NCBI
CeleraX15,283,114 - 15,812,107 (-)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX8,936,119 - 9,462,624 (-)NCBIHuRef
CHM1_1X11,186,095 - 11,714,183 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:8570618   PMID:9417914   PMID:10699171   PMID:12477932   PMID:12673365   PMID:18434237   PMID:19913121   PMID:19960375   PMID:20628086   PMID:21873635   PMID:22889411   PMID:23251683  
PMID:25798074   PMID:28611215   PMID:30816546   PMID:32203420  


Genomics

Comparative Map Data
ARHGAP6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX11,117,651 - 11,665,920 (-)EnsemblGRCh38hg38GRCh38
GRCh38X11,137,544 - 11,665,920 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X11,155,664 - 11,684,040 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X11,065,584 - 11,593,742 (-)NCBINCBI36hg18NCBI36
Build 34X10,915,323 - 11,443,478NCBI
CeleraX15,283,114 - 15,812,107 (-)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX8,936,119 - 9,462,624 (-)NCBIHuRef
CHM1_1X11,186,095 - 11,714,183 (-)NCBICHM1_1
Arhgap6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X167,578,091 - 168,087,436 (+)NCBIGRCm39mm39
GRCm39 EnsemblX167,578,095 - 168,087,431 (+)Ensembl
GRCm38X168,795,094 - 169,304,440 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX168,795,099 - 169,304,435 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X165,233,031 - 165,742,367 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X164,139,204 - 164,648,540 (+)NCBImm8
CeleraX151,961,093 - 152,469,567 (+)NCBICelera
Cytogenetic MapXF5NCBI
Arhgap6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X24,953,464 - 25,490,003 (-)NCBI
Rnor_6.0 EnsemblX26,315,878 - 26,376,467 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X26,314,561 - 26,845,242 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X26,719,353 - 27,249,921 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X45,638,826 - 46,180,012 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX25,373,362 - 25,904,033 (-)NCBICelera
Cytogenetic MapXq13NCBI
Arhgap6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555441,620,838 - 2,095,220 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555441,619,742 - 2,095,314 (+)NCBIChiLan1.0ChiLan1.0
ARHGAP6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X11,058,207 - 11,582,588 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX11,058,207 - 11,582,115 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X3,767,259 - 4,291,738 (-)NCBIMhudiblu_PPA_v0panPan3
ARHGAP6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X7,704,838 - 8,188,358 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX7,706,156 - 7,951,557 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX7,661,628 - 8,145,052 (-)NCBI
ROS_Cfam_1.0X7,658,026 - 8,140,930 (-)NCBI
UMICH_Zoey_3.1X7,641,326 - 8,124,919 (-)NCBI
UNSW_CanFamBas_1.0X7,677,568 - 8,161,294 (-)NCBI
UU_Cfam_GSD_1.0X7,672,129 - 8,156,977 (-)NCBI
Arhgap6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X1,048,141 - 1,501,946 (-)NCBI
SpeTri2.0NW_0049364701,048,145 - 1,501,970 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ARHGAP6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX7,910,858 - 8,120,386 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X7,910,851 - 8,441,579 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X8,541,109 - 8,686,000 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ARHGAP6
(Chlorocebus sabaeus - African green monkey)
No map positions available.
Arhgap6
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248822,706,827 - 3,211,600 (+)NCBI

Position Markers
DXS1043  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,468,259 - 11,468,412UniSTSGRCh37
GRCh37X11,468,251 - 11,468,398UniSTSGRCh37
Build 36X11,378,172 - 11,378,319RGDNCBI36
CeleraX15,595,722 - 15,595,875UniSTS
CeleraX15,595,714 - 15,595,861RGD
Cytogenetic MapXp22.3UniSTS
HuRefX9,247,290 - 9,247,437UniSTS
HuRefX9,247,298 - 9,247,451UniSTS
Marshfield Genetic MapX18.37RGD
Genethon Genetic MapX17.7UniSTS
TNG Radiation Hybrid MapX2197.0UniSTS
deCODE Assembly MapX21.33UniSTS
Stanford-G3 RH MapX840.0UniSTS
GeneMap99-GB4 RH MapX83.98UniSTS
Whitehead-RH MapX7.7UniSTS
Whitehead-YAC Contig MapX UniSTS
NCBI RH MapX10.7UniSTS
GeneMap99-G3 RH MapX26.0UniSTS
D11S1905  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,192,307 - 11,192,858UniSTSGRCh37
CeleraX15,319,758 - 15,320,309UniSTS
Cytogenetic MapXp22.3UniSTS
Marshfield Genetic Map1142.55UniSTS
Marshfield Genetic Map1142.55RGD
DXS7090  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,497,394 - 11,497,585UniSTSGRCh37
Build 36X11,407,315 - 11,407,506RGDNCBI36
CeleraX15,624,857 - 15,625,048RGD
Cytogenetic MapXp22.3UniSTS
HuRefX9,276,256 - 9,276,447UniSTS
Whitehead-RH MapX9.4UniSTS
Whitehead-YAC Contig MapX UniSTS
NCBI RH MapX10.0UniSTS
RH79902  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,317,122 - 11,317,314UniSTSGRCh37
Build 36X11,227,043 - 11,227,235RGDNCBI36
CeleraX15,444,579 - 15,444,771RGD
Cytogenetic MapXp22.31-p22.1UniSTS
Cytogenetic MapXp22.3UniSTS
HuRefX9,096,745 - 9,096,937UniSTS
RH98500  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,155,714 - 11,155,863UniSTSGRCh37
Build 36X11,065,635 - 11,065,784RGDNCBI36
CeleraX15,283,165 - 15,283,314RGD
Cytogenetic MapXp22.3UniSTS
HuRefX8,936,170 - 8,936,319UniSTS
GeneMap99-GB4 RH MapX83.98UniSTS
AF003642  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,220,867 - 11,221,035UniSTSGRCh37
Build 36X11,130,788 - 11,130,956RGDNCBI36
CeleraX15,348,320 - 15,348,488RGD
Cytogenetic MapXp22.3UniSTS
HuRefX9,000,333 - 9,000,502UniSTS
AF003643  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,203,197 - 11,203,360UniSTSGRCh37
Build 36X11,113,118 - 11,113,281RGDNCBI36
CeleraX15,330,648 - 15,330,811RGD
Cytogenetic MapXp22.3UniSTS
HuRefX8,983,039 - 8,983,202UniSTS
AF003645  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,232,191 - 11,232,456UniSTSGRCh37
Build 36X11,142,112 - 11,142,377RGDNCBI36
CeleraX15,359,644 - 15,359,911RGD
Cytogenetic MapXp22.3UniSTS
HuRefX9,011,659 - 9,011,926UniSTS
AF003646  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,284,082 - 11,284,317UniSTSGRCh37
Build 36X11,194,003 - 11,194,238RGDNCBI36
CeleraX15,411,538 - 15,411,773RGD
Cytogenetic MapXp22.3UniSTS
AF003647  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,220,081 - 11,220,244UniSTSGRCh37
Build 36X11,130,002 - 11,130,165RGDNCBI36
CeleraX15,347,532 - 15,347,697RGD
Cytogenetic MapXp22.3UniSTS
AF003648  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,259,537 - 11,259,739UniSTSGRCh37
Build 36X11,169,458 - 11,169,660RGDNCBI36
CeleraX15,386,993 - 15,387,195RGD
Cytogenetic MapXp22.3UniSTS
HuRefX9,039,108 - 9,039,310UniSTS
AF003655  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,338,845 - 11,339,019UniSTSGRCh37
Build 36X11,248,766 - 11,248,940RGDNCBI36
CeleraX15,466,300 - 15,466,478RGD
Cytogenetic MapXp22.3UniSTS
AF003672  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,156,200 - 11,156,421UniSTSGRCh37
Build 36X11,066,121 - 11,066,342RGDNCBI36
CeleraX15,283,651 - 15,283,872RGD
Cytogenetic MapXp22.3UniSTS
HuRefX8,936,656 - 8,936,877UniSTS
AF003685  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,184,705 - 11,184,878UniSTSGRCh37
Build 36X11,094,626 - 11,094,799RGDNCBI36
CeleraX15,312,156 - 15,312,329RGD
Cytogenetic MapXp22.3UniSTS
HuRefX8,964,627 - 8,964,800UniSTS
DXF22S5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,260,594 - 11,260,787UniSTSGRCh37
Build 36X11,170,515 - 11,170,708RGDNCBI36
CeleraX15,388,050 - 15,388,243RGD
Cytogenetic MapXp22.3UniSTS
DXS1380  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,451,793 - 11,451,896UniSTSGRCh37
Build 36X11,361,714 - 11,361,817RGDNCBI36
CeleraX15,579,256 - 15,579,359RGD
Cytogenetic MapXp22.3UniSTS
HuRefX9,230,907 - 9,231,010UniSTS
DXS1445  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,581,372 - 11,581,514UniSTSGRCh37
Build 36X11,491,293 - 11,491,435RGDNCBI36
CeleraX15,708,477 - 15,708,619RGD
Cytogenetic MapXp22.3UniSTS
HuRefX9,359,477 - 9,359,619UniSTS
DXS1129  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,649,156 - 11,649,342UniSTSGRCh37
Build 36X11,559,077 - 11,559,263RGDNCBI36
CeleraX15,777,447 - 15,777,633RGD
Cytogenetic MapXp22.3UniSTS
HuRefX9,428,083 - 9,428,269UniSTS
DXS1135  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,519,985 - 11,520,256UniSTSGRCh37
Build 36X11,429,906 - 11,430,177RGDNCBI36
CeleraX15,647,828 - 15,648,099RGD
Cytogenetic MapXp22.3UniSTS
HuRefX9,299,394 - 9,299,665UniSTS
GDB:677393  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,315,324 - 11,315,473UniSTSGRCh37
Build 36X11,225,245 - 11,225,394RGDNCBI36
CeleraX15,442,781 - 15,442,930RGD
Cytogenetic MapXp22.31-p22.1UniSTS
Cytogenetic MapXp22.3UniSTS
HuRefX9,094,947 - 9,095,096UniSTS
SHGC-80932  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,321,091 - 11,321,382UniSTSGRCh37
Build 36X11,231,012 - 11,231,303RGDNCBI36
CeleraX15,448,547 - 15,448,838RGD
Cytogenetic MapXp22.3UniSTS
HuRefX9,100,564 - 9,100,855UniSTS
TNG Radiation Hybrid MapX2227.0UniSTS
SHGC-84186  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,451,596 - 11,451,882UniSTSGRCh37
Build 36X11,361,517 - 11,361,803RGDNCBI36
CeleraX15,579,059 - 15,579,345RGD
Cytogenetic MapXp22.3UniSTS
HuRefX9,230,710 - 9,230,996UniSTS
TNG Radiation Hybrid MapX2204.0UniSTS
RH123869  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,172,765 - 11,173,063UniSTSGRCh37
Build 36X11,082,686 - 11,082,984RGDNCBI36
CeleraX15,300,216 - 15,300,514RGD
Cytogenetic MapXp22.3UniSTS
HuRefX8,952,706 - 8,953,004UniSTS
TNG Radiation Hybrid MapX2281.0UniSTS
G62689  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,548,837 - 11,549,130UniSTSGRCh37
Build 36X11,458,758 - 11,459,051RGDNCBI36
CeleraX15,675,772 - 15,676,065RGD
Cytogenetic MapXp22.3UniSTS
HuRefX9,327,265 - 9,327,558UniSTS
TNG Radiation Hybrid MapX2182.0UniSTS
G42692  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,316,604 - 11,316,668UniSTSGRCh37
GRCh37Y6,736,503 - 6,736,567UniSTSGRCh37
Build 36X11,226,525 - 11,226,589RGDNCBI36
CeleraX15,444,061 - 15,444,125RGD
CeleraY2,479,480 - 2,479,544UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic MapXp22.31-p22.1UniSTS
HuRefX9,096,227 - 9,096,291UniSTS
HuRefY4,295,557 - 4,295,621UniSTS
DXS7543  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,164,658 - 11,164,761UniSTSGRCh37
Build 36X11,074,579 - 11,074,682RGDNCBI36
CeleraX15,292,109 - 15,292,212RGD
Cytogenetic MapXp22.3UniSTS
HuRefX8,945,114 - 8,945,217UniSTS
DXS7928  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,167,562 - 11,167,668UniSTSGRCh37
Build 36X11,077,483 - 11,077,589RGDNCBI36
CeleraX15,295,013 - 15,295,119RGD
Cytogenetic MapXp22.3UniSTS
HuRefX8,947,424 - 8,947,530UniSTS
GDB:371402  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,316,279 - 11,316,650UniSTSGRCh37
Build 36X11,226,200 - 11,226,571RGDNCBI36
CeleraX15,443,736 - 15,444,107RGD
Cytogenetic MapXp22.31-p22.1UniSTS
Cytogenetic MapXp22.3UniSTS
HuRefX9,095,902 - 9,096,273UniSTS
GDB:574117  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,312,849 - 11,313,028UniSTSGRCh37
Build 36X11,222,770 - 11,222,949RGDNCBI36
CeleraX15,440,306 - 15,440,485RGD
Cytogenetic MapXp22.31-p22.1UniSTS
Cytogenetic MapXp22.3UniSTS
HuRefX9,092,472 - 9,092,651UniSTS
GDB:574121  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,314,737 - 11,315,050UniSTSGRCh37
Build 36X11,224,658 - 11,224,971RGDNCBI36
CeleraX15,442,194 - 15,442,507RGD
Cytogenetic MapXp22.31-p22.1UniSTS
Cytogenetic MapXp22.3UniSTS
HuRefX9,094,360 - 9,094,673UniSTS
GDB:574132  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,316,059 - 11,316,524UniSTSGRCh37
GRCh37Y6,736,647 - 6,737,115UniSTSGRCh37
Build 36X11,225,980 - 11,226,445RGDNCBI36
CeleraX15,443,516 - 15,443,981RGD
CeleraY2,478,932 - 2,479,400UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic MapXp22.31-p22.1UniSTS
HuRefX9,095,682 - 9,096,147UniSTS
HuRefY4,295,701 - 4,296,169UniSTS
GDB:574144  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,316,632 - 11,317,187UniSTSGRCh37
Build 36X11,226,553 - 11,227,108RGDNCBI36
CeleraX15,444,089 - 15,444,644RGD
Cytogenetic MapXp22.31-p22.1UniSTS
Cytogenetic MapXp22.3UniSTS
HuRefX9,096,255 - 9,096,810UniSTS
GDB:574146  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,317,520 - 11,318,872UniSTSGRCh37
Build 36X11,227,441 - 11,228,793RGDNCBI36
CeleraX15,444,977 - 15,446,329RGD
Cytogenetic MapXp22.31-p22.1UniSTS
Cytogenetic MapXp22.3UniSTS
SHGC-108012  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,499,022 - 11,499,328UniSTSGRCh37
Build 36X11,408,943 - 11,409,249RGDNCBI36
CeleraX15,626,485 - 15,626,791RGD
Cytogenetic MapXp22.3UniSTS
HuRefX9,278,328 - 9,278,634UniSTS
TNG Radiation Hybrid MapX2189.0UniSTS
RH46956  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,317,385 - 11,317,515UniSTSGRCh37
Build 36X11,227,306 - 11,227,436RGDNCBI36
CeleraX15,444,842 - 15,444,972RGD
Cytogenetic MapXp22.31-p22.1UniSTS
Cytogenetic MapXp22.3UniSTS
GeneMap99-GB4 RH MapX83.98UniSTS
NCBI RH MapX10.0UniSTS
SHGC-105133  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,633,711 - 11,634,033UniSTSGRCh37
Build 36X11,543,632 - 11,543,954RGDNCBI36
CeleraX15,762,162 - 15,762,484RGD
Cytogenetic MapXp22.3UniSTS
HuRefX9,412,327 - 9,412,649UniSTS
TNG Radiation Hybrid MapX2141.0UniSTS
AMELX  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y6,736,086 - 6,736,302UniSTSGRCh37
GRCh37X11,316,869 - 11,317,085UniSTSGRCh37
Build 36X11,226,790 - 11,227,006RGDNCBI36
CeleraY2,479,745 - 2,479,961UniSTS
CeleraX15,444,326 - 15,444,542RGD
HuRefY4,295,140 - 4,295,356UniSTS
HuRefX9,096,492 - 9,096,708UniSTS
DXS7519  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,204,783 - 11,204,918UniSTSGRCh37
Build 36X11,114,704 - 11,114,839RGDNCBI36
CeleraX15,332,234 - 15,332,369RGD
Cytogenetic MapXp22.3UniSTS
HuRefX8,984,625 - 8,984,760UniSTS
Whitehead-YAC Contig MapX UniSTS
DXS9824  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,391,128 - 11,391,356UniSTSGRCh37
Build 36X11,301,049 - 11,301,277RGDNCBI36
CeleraX15,518,587 - 15,518,815RGD
HuRefX9,170,639 - 9,170,867UniSTS
DXS9825  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,371,275 - 11,371,745UniSTSGRCh37
Build 36X11,281,196 - 11,281,666RGDNCBI36
CeleraX15,498,733 - 15,499,205RGD
HuRefX9,150,578 - 9,151,050UniSTS
AFMa052zc1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,369,112 - 11,369,266UniSTSGRCh37
Build 36X11,279,033 - 11,279,187RGDNCBI36
CeleraX15,496,570 - 15,496,724RGD
Cytogenetic MapXp22.3UniSTS
HuRefX9,148,411 - 9,148,569UniSTS
Whitehead-RH MapX3.9UniSTS
Whitehead-YAC Contig MapX UniSTS
NCBI RH MapX10.0UniSTS
DXS7800  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,187,488 - 11,187,602UniSTSGRCh37
Build 36X11,097,409 - 11,097,523RGDNCBI36
CeleraX15,314,939 - 15,315,053RGD
Cytogenetic MapXp22.3UniSTS
HuRefX8,967,410 - 8,967,524UniSTS
SHGC-34710  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,270,570 - 11,270,719UniSTSGRCh37
Build 36X11,180,491 - 11,180,640RGDNCBI36
CeleraX15,398,026 - 15,398,175RGD
Cytogenetic MapXp22.3UniSTS
HuRefX9,050,364 - 9,050,513UniSTS
Stanford-G3 RH MapX828.0UniSTS
GeneMap99-GB4 RH MapX83.98UniSTS
Whitehead-RH MapX6.1UniSTS
NCBI RH MapX10.0UniSTS
GeneMap99-G3 RH MapX13.0UniSTS
DXS8202  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,281,076 - 11,281,245UniSTSGRCh37
Build 36X11,190,997 - 11,191,166RGDNCBI36
CeleraX15,408,532 - 15,408,701RGD
Cytogenetic MapXp22.3UniSTS
HuRefX9,060,665 - 9,060,834UniSTS
ARHGAP6_4363  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,161,513 - 11,162,315UniSTSGRCh37
Build 36X11,071,434 - 11,072,236RGDNCBI36
CeleraX15,288,964 - 15,289,766RGD
HuRefX8,941,969 - 8,942,771UniSTS
DXS1043  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp22.3UniSTS
Marshfield Genetic MapX18.37UniSTS
Genethon Genetic MapX17.7UniSTS
deCODE Assembly MapX21.33UniSTS
GeneMap99-GB4 RH MapX83.98UniSTS
Whitehead-RH MapX7.7UniSTS
Whitehead-YAC Contig MapX UniSTS
NCBI RH MapX10.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6528
Count of miRNA genes:1351
Interacting mature miRNAs:1762
Transcripts:ENST00000303025, ENST00000337414, ENST00000380717, ENST00000380718, ENST00000380732, ENST00000380736, ENST00000413512, ENST00000489330, ENST00000491514, ENST00000495242, ENST00000534860
Prediction methods:Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 1105 817 683 3 194 1 1547 586 437 95 675 1196 3 801 939
Low 1221 1586 741 351 998 191 2698 1566 3084 298 666 216 164 1 403 1848 2
Below cutoff 45 578 280 257 644 259 84 24 176 18 82 92 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001287242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_013423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_013427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_109776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB208792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC002366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC003657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC130886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC130890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF012272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF022212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF117067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF177663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF177665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY018118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000303025   ⟹   ENSP00000302312
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,137,544 - 11,265,975 (-)Ensembl
RefSeq Acc Id: ENST00000337414   ⟹   ENSP00000338967
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,137,544 - 11,665,920 (-)Ensembl
RefSeq Acc Id: ENST00000380717   ⟹   ENSP00000370093
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,143,397 - 11,290,478 (-)Ensembl
RefSeq Acc Id: ENST00000380718   ⟹   ENSP00000370094
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,143,397 - 11,665,701 (-)Ensembl
RefSeq Acc Id: ENST00000380736   ⟹   ENSP00000370112
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,137,543 - 11,427,773 (-)Ensembl
RefSeq Acc Id: ENST00000489330
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,137,547 - 11,665,083 (-)Ensembl
RefSeq Acc Id: ENST00000491514
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,169,156 - 11,182,074 (-)Ensembl
RefSeq Acc Id: ENST00000495242   ⟹   ENSP00000435767
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,137,544 - 11,665,701 (-)Ensembl
RefSeq Acc Id: ENST00000657361   ⟹   ENSP00000499351
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,117,651 - 11,266,004 (-)Ensembl
RefSeq Acc Id: NM_001287242   ⟹   NP_001274171
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X11,137,544 - 11,427,818 (-)NCBI
HuRefX8,936,119 - 9,462,624 (-)NCBI
CHM1_1X11,186,095 - 11,476,315 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006125   ⟹   NP_006116
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X11,143,397 - 11,665,920 (-)NCBI
GRCh37X11,155,663 - 11,683,821 (-)RGD
Build 36X11,071,438 - 11,593,742 (-)NCBI Archive
CeleraX15,283,114 - 15,812,107 (-)RGD
HuRefX8,936,119 - 9,462,624 (-)RGD
CHM1_1X11,191,951 - 11,714,183 (-)NCBI
Sequence:
RefSeq Acc Id: NM_013423   ⟹   NP_038267
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X11,137,544 - 11,265,992 (-)NCBI
GRCh37X11,155,663 - 11,683,821 (-)RGD
Build 36X11,065,584 - 11,194,016 (-)NCBI Archive
CeleraX15,283,114 - 15,812,107 (-)RGD
HuRefX8,936,119 - 9,462,624 (-)RGD
CHM1_1X11,186,095 - 11,314,563 (-)NCBI
Sequence:
RefSeq Acc Id: NM_013427   ⟹   NP_038286
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X11,137,544 - 11,665,920 (-)NCBI
GRCh37X11,155,663 - 11,683,821 (-)RGD
Build 36X11,065,584 - 11,593,742 (-)NCBI Archive
CeleraX15,283,114 - 15,812,107 (-)RGD
HuRefX8,936,119 - 9,462,624 (-)RGD
CHM1_1X11,186,095 - 11,714,183 (-)NCBI
Sequence:
RefSeq Acc Id: NR_109776
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X11,137,544 - 11,665,920 (-)NCBI
HuRefX8,936,119 - 9,462,624 (-)NCBI
CHM1_1X11,186,095 - 11,714,183 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_038286   ⟸   NM_013427
- Peptide Label: isoform 1
- UniProtKB: O43182 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_038267   ⟸   NM_013423
- Peptide Label: isoform 4
- UniProtKB: O43182 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_006116   ⟸   NM_006125
- Peptide Label: isoform 3
- UniProtKB: O43182 (UniProtKB/Swiss-Prot),   Q59HG6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001274171   ⟸   NM_001287242
- Peptide Label: isoform 6
- UniProtKB: O43182 (UniProtKB/Swiss-Prot),   Q59HG6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000338967   ⟸   ENST00000337414
RefSeq Acc Id: ENSP00000435767   ⟸   ENST00000495242
RefSeq Acc Id: ENSP00000499351   ⟸   ENST00000657361
RefSeq Acc Id: ENSP00000370112   ⟸   ENST00000380736
RefSeq Acc Id: ENSP00000370093   ⟸   ENST00000380717
RefSeq Acc Id: ENSP00000370094   ⟸   ENST00000380718
RefSeq Acc Id: ENSP00000302312   ⟸   ENST00000303025
Protein Domains
Rho-GAP

Promoters
RGD ID:6808499
Promoter ID:HG_KWN:65989
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat
Transcripts:OTTHUMT00000055765
Position:
Human AssemblyChrPosition (strand)Source
Build 36X11,110,136 - 11,110,636 (-)MPROMDB
RGD ID:6808502
Promoter ID:HG_KWN:65990
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000353663,   NM_013423
Position:
Human AssemblyChrPosition (strand)Source
Build 36X11,193,941 - 11,194,441 (-)MPROMDB
RGD ID:13604728
Promoter ID:EPDNEW_H28548
Type:initiation region
Name:ARHGAP6_2
Description:Rho GTPase activating protein 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28550  EPDNEW_H28551  EPDNEW_H28552  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X11,265,992 - 11,266,052EPDNEW
RGD ID:6808498
Promoter ID:HG_KWN:65994
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:ENST00000380736
Position:
Human AssemblyChrPosition (strand)Source
Build 36X11,355,429 - 11,355,929 (-)MPROMDB
RGD ID:13604732
Promoter ID:EPDNEW_H28550
Type:multiple initiation site
Name:ARHGAP6_4
Description:Rho GTPase activating protein 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28548  EPDNEW_H28551  EPDNEW_H28552  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X11,398,260 - 11,398,320EPDNEW
RGD ID:13604734
Promoter ID:EPDNEW_H28551
Type:initiation region
Name:ARHGAP6_1
Description:Rho GTPase activating protein 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28548  EPDNEW_H28550  EPDNEW_H28552  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X11,427,786 - 11,427,846EPDNEW
RGD ID:6808501
Promoter ID:HG_KWN:65995
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000380717,   NM_006125,   NM_013427,   OTTHUMT00000055761,   OTTHUMT00000291400
Position:
Human AssemblyChrPosition (strand)Source
Build 36X11,592,811 - 11,594,327 (-)MPROMDB
RGD ID:13604736
Promoter ID:EPDNEW_H28552
Type:initiation region
Name:ARHGAP6_3
Description:Rho GTPase activating protein 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28548  EPDNEW_H28550  EPDNEW_H28551  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X11,665,920 - 11,665,980EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000023.10:g.11285049_11381288del deletion Amelogenesis imperfecta, type 1E, with snow-capped teeth [RCV000033862] ChrX:11266933..11363172 [GRCh38]
ChrX:11285049..11381288 [GRCh37]
ChrX:Xp22.2
pathogenic
NC_000023.10:g.11633731_11797224del163494 deletion Intellectual disability [RCV000656445] ChrX:11633731..11797224 [GRCh37]
ChrX:Xp22.2
likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_013427.2(ARHGAP6):c.589-13852A>G single nucleotide variant Lung cancer [RCV000102209] ChrX:11268559 [GRCh38]
ChrX:11286679 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_013427.2(ARHGAP6):c.589-141305G>A single nucleotide variant Lung cancer [RCV000102223] ChrX:11396012 [GRCh38]
ChrX:11414132 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_013427.2(ARHGAP6):c.589-156092T>C single nucleotide variant Lung cancer [RCV000102225] ChrX:11410799 [GRCh38]
ChrX:11428919 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_013427.2(ARHGAP6):c.589-162939A>T single nucleotide variant Lung cancer [RCV000102226] ChrX:11417646 [GRCh38]
ChrX:11435766 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_013427.2(ARHGAP6):c.589-178573C>T single nucleotide variant Lung cancer [RCV000102228] ChrX:11433280 [GRCh38]
ChrX:11451400 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_013427.2(ARHGAP6):c.588+174447T>C single nucleotide variant Lung cancer [RCV000102232] ChrX:11489794 [GRCh38]
ChrX:11507914 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.2(chrX:11038216-11190005)x3 copy number gain See cases [RCV000051184] ChrX:11038216..11190005 [GRCh38]
ChrX:11056336..11208125 [GRCh37]
ChrX:10966257..11118046 [NCBI36]
ChrX:Xp22.2
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-11240163)x1 copy number loss See cases [RCV000051034] ChrX:10679..11240163 [GRCh38]
ChrX:60679..11258283 [GRCh37]
ChrX:679..11168204 [NCBI36]
ChrX:Xp22.33-22.2
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 Xp22.31-22.2(chrX:6837101-13719231)x3 copy number gain See cases [RCV000052360] ChrX:6837101..13719231 [GRCh38]
ChrX:6755142..13737350 [GRCh37]
ChrX:6765142..13647271 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:7992018-14435892)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052361]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052361]|See cases [RCV000052361] ChrX:7992018..14435892 [GRCh38]
ChrX:7960059..14454014 [GRCh37]
ChrX:7920059..14363935 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9038047-16646589)x2 copy number gain See cases [RCV000052362] ChrX:9038047..16646589 [GRCh38]
ChrX:9006088..16664712 [GRCh37]
ChrX:8966088..16574633 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9540020-13128124)x1 copy number loss See cases [RCV000053057] ChrX:9540020..13128124 [GRCh38]
ChrX:9508060..13146243 [GRCh37]
ChrX:9468060..13056164 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:3057092-13615172)x1 copy number loss See cases [RCV000053026] ChrX:3057092..13615172 [GRCh38]
ChrX:2975133..13633291 [GRCh37]
ChrX:2985133..13543212 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-11803947)x1 copy number loss See cases [RCV000052968] ChrX:10679..11803947 [GRCh38]
ChrX:60679..11822066 [GRCh37]
ChrX:679..11731987 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10679-21811030)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] ChrX:10679..21811030 [GRCh38]
ChrX:60679..21829148 [GRCh37]
ChrX:679..21739069 [NCBI36]
ChrX:Xp22.33-22.12
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-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 Xp22.2(chrX:11240104-11903527)x3 copy number gain See cases [RCV000054141] ChrX:11240104..11903527 [GRCh38]
ChrX:11258224..11921646 [GRCh37]
ChrX:11168145..11831567 [NCBI36]
ChrX:Xp22.2
uncertain significance
GRCh38/hg38 Xp22.2(chrX:11658644-12174505)x2 copy number gain See cases [RCV000054142] ChrX:11658644..12174505 [GRCh38]
ChrX:11676764..12192624 [GRCh37]
ChrX:11586685..12102545 [NCBI36]
ChrX:Xp22.2
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_013427.2(ARHGAP6):c.1402T>C (p.Leu468=) single nucleotide variant Malignant melanoma [RCV000073043] ChrX:11179380 [GRCh38]
ChrX:11197500 [GRCh37]
ChrX:11107421 [NCBI36]
ChrX:Xp22.2
not provided
NM_001142.2(AMELX):c.113del (p.Pro38fs) deletion Amelogenesis imperfecta, type 1E [RCV000011887] ChrX:11298243 [GRCh38]
ChrX:11316363 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001142.2(AMELX):c.14_22del (p.Ile5_Ala8delinsThr) deletion Amelogenesis imperfecta, type 1E [RCV000011888] ChrX:11294802..11294810 [GRCh38]
ChrX:11312922..11312930 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001142.2(AMELX):c.431del (p.Pro144fs) deletion Amelogenesis imperfecta, type 1E [RCV000011889] ChrX:11298833 [GRCh38]
ChrX:11316953 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001142.2(AMELX):c.110C>T (p.Thr37Ile) single nucleotide variant Amelogenesis imperfecta, type 1E [RCV000011890] ChrX:11298243 [GRCh38]
ChrX:11316363 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001142.2(AMELX):c.529G>T (p.Glu177Ter) single nucleotide variant Amelogenesis imperfecta, type 1E [RCV000011891] ChrX:11298932 [GRCh38]
ChrX:11317052 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001142.2(AMELX):c.166C>A (p.Pro56Thr) single nucleotide variant Amelogenesis imperfecta, type 1E [RCV000011892] ChrX:11298569 [GRCh38]
ChrX:11316689 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001142.2(AMELX):c.499del (p.Leu167fs) deletion Amelogenesis imperfecta, type 1E [RCV000011893] ChrX:11298899 [GRCh38]
ChrX:11317019 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001142.2(AMELX):c.378del (p.Tyr127fs) deletion Amelogenesis imperfecta, type 1E [RCV000011894] ChrX:11298779 [GRCh38]
ChrX:11316899 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001142.2(AMELX):c.2T>C (p.Met1Thr) single nucleotide variant Amelogenesis imperfecta, type 1E [RCV000011895] ChrX:11294790 [GRCh38]
ChrX:11312910 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001142.2(AMELX):c.11G>C (p.Trp4Ser) single nucleotide variant Amelogenesis imperfecta, type 1E [RCV000011896] ChrX:11294799 [GRCh38]
ChrX:11312919 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_013427.3(ARHGAP6):c.1675G>T (p.Gly559Ter) single nucleotide variant not provided [RCV000087220] ChrX:11169639 [GRCh38]
ChrX:11187759 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001142.2(AMELX):c.129G>C (p.Gln43His) single nucleotide variant X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 [RCV000083240] ChrX:11298262 [GRCh38]
ChrX:11316382 [GRCh37]
ChrX:Xp22.2
not provided
NM_001142.2(AMELX):c.131G>A (p.Ser44Asn) single nucleotide variant X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 [RCV000083241] ChrX:11298264 [GRCh38]
ChrX:11316384 [GRCh37]
ChrX:Xp22.2
not provided
NM_001142.2(AMELX):c.132C>A (p.Ser44Arg) single nucleotide variant X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 [RCV000083242] ChrX:11298265 [GRCh38]
ChrX:11316385 [GRCh37]
ChrX:Xp22.2
not provided
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2(chrX:11541839-12655449)x3 copy number gain See cases [RCV000184087] ChrX:11541839..12655449 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_001287242.1(ARHGAP6):c.49-45951_49-41228del deletion Amelogenesis imperfecta, type 1E [RCV000011886] ChrX:11295938..11300658 [GRCh38]
ChrX:11314058..11318778 [GRCh37]
ChrX:Xp22.2
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 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:4082541-12772302)x2 copy number gain See cases [RCV000135636] ChrX:4082541..12772302 [GRCh38]
ChrX:4000582..12790421 [GRCh37]
ChrX:4010582..12700342 [NCBI36]
ChrX:Xp22.33-22.2
likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.2(chrX:11111956-11413717)x2 copy number gain See cases [RCV000135605] ChrX:11111956..11413717 [GRCh38]
ChrX:11130076..11431837 [GRCh37]
ChrX:11039997..11341758 [NCBI36]
ChrX:Xp22.2
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:2936461-17287323)x2 copy number gain See cases [RCV000135895] ChrX:2936461..17287323 [GRCh38]
ChrX:2854502..17305446 [GRCh37]
ChrX:2864502..17215367 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.2(chrX:11623252-11663811)x2 copy number gain See cases [RCV000136744] ChrX:11623252..11663811 [GRCh38]
ChrX:11641372..11681931 [GRCh37]
ChrX:11551293..11591852 [NCBI36]
ChrX:Xp22.2
benign
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-16187419)x1 copy number loss See cases [RCV000137252] ChrX:10679..16187419 [GRCh38]
ChrX:60679..16205542 [GRCh37]
ChrX:679..16115463 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3 copy number gain See cases [RCV000137383] ChrX:10701..21866242 [GRCh38]
ChrX:60701..21884360 [GRCh37]
ChrX:701..21794281 [NCBI36]
ChrX:Xp22.33-22.12
uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.2(chrX:11071625-11718694)x3 copy number gain See cases [RCV000138002] ChrX:11071625..11718694 [GRCh38]
ChrX:11089745..11736814 [GRCh37]
ChrX:10999666..11646735 [NCBI36]
ChrX:Xp22.2
uncertain significance
GRCh38/hg38 Xp22.31-22.2(chrX:9239101-16721153)x1 copy number loss See cases [RCV000137753] ChrX:9239101..16721153 [GRCh38]
ChrX:9207141..16739276 [GRCh37]
ChrX:9167141..16649197 [NCBI36]
ChrX:Xp22.31-22.2
uncertain significance
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:253124-12931344)x1 copy number loss See cases [RCV000138680] ChrX:253124..12931344 [GRCh38]
ChrX:169791..12949463 [GRCh37]
ChrX:109791..12859384 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.2(chrX:11106727-11718694)x3 copy number gain See cases [RCV000139913] ChrX:11106727..11718694 [GRCh38]
ChrX:11124847..11736814 [GRCh37]
ChrX:11034768..11646735 [NCBI36]
ChrX:Xp22.2
likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.2(chrX:11095773-11240163)x2 copy number gain See cases [RCV000142451] ChrX:11095773..11240163 [GRCh38]
ChrX:11113893..11258283 [GRCh37]
ChrX:11023814..11168204 [NCBI36]
ChrX:Xp22.2
uncertain significance
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:251879-16967290)x1 copy number loss See cases [RCV000142053] ChrX:251879..16967290 [GRCh38]
ChrX:168546..16985413 [GRCh37]
ChrX:108546..16895334 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 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 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.2(chrX:10544684-11145505)x2 copy number gain See cases [RCV000143592] ChrX:10544684..11145505 [GRCh38]
ChrX:10512724..11163625 [GRCh37]
ChrX:10472724..11073546 [NCBI36]
ChrX:Xp22.2
uncertain significance
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 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
NC_000023.10:g.11600773_12249902del649130 deletion Intellectual disability [RCV000656444] ChrX:11600773..12249902 [GRCh37]
ChrX:Xp22.2
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
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 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:71267-12032064)x1 copy number loss See cases [RCV000240338] ChrX:71267..12032064 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
NM_001142.2(AMELX):c.219C>T (p.His73=) single nucleotide variant not specified [RCV000250301] ChrX:11298622 [GRCh38]
ChrX:11316742 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.2(chrX:11258243-14177713)x1 copy number loss See cases [RCV000448381] ChrX:11258243..14177713 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_013427.3(ARHGAP6):c.589-12_589-10del deletion not specified [RCV000454383] ChrX:11254717..11254719 [GRCh38]
ChrX:11272837..11272839 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2
pathogenic
GRCh37/hg19 Xp22.2(chrX:10810471-11339263)x3 copy number gain See cases [RCV000511422] ChrX:10810471..11339263 [GRCh37]
ChrX:Xp22.2
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_001142.2(AMELX):c.280G>A (p.Val94Met) single nucleotide variant Inborn genetic diseases [RCV000623827] ChrX:11298683 [GRCh38]
ChrX:11316803 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:168546-16404364)x1 copy number loss not provided [RCV000684181] ChrX:168546..16404364 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3 copy number gain not provided [RCV000684187] ChrX:201704..20682168 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-18601364)x1 copy number loss not provided [RCV000684182] ChrX:168546..18601364 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1 copy number loss not provided [RCV000684183] ChrX:168546..23785738 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.2(chrX:11091133-11291610)x2 copy number gain not provided [RCV000684272] ChrX:11091133..11291610 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.2(chrX:11622217-12676877)x2 copy number gain not provided [RCV000684273] ChrX:11622217..12676877 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2(chrX:10989343-11572991)x3 copy number gain not provided [RCV000753380] ChrX:10989343..11572991 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.2(chrX:11532401-11935042)x2 copy number gain not provided [RCV000753381] ChrX:11532401..11935042 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.2(chrX:11644490-12054572)x3 copy number gain not provided [RCV000753383] ChrX:11644490..12054572 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.2(chrX:11544117-11935042)x2 copy number gain not provided [RCV000753382] ChrX:11544117..11935042 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Primary amenorrhea [RCV000754474] ChrX:11249664..11996670 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_013427.3(ARHGAP6):c.479G>T (p.Gly160Val) single nucleotide variant not provided [RCV000906945] ChrX:11664350 [GRCh38]
ChrX:11682470 [GRCh37]
ChrX:Xp22.2
likely benign
NM_013427.3(ARHGAP6):c.2523G>A (p.Leu841=) single nucleotide variant not provided [RCV000899067] ChrX:11139265 [GRCh38]
ChrX:11157385 [GRCh37]
ChrX:Xp22.2
benign
NM_013427.3(ARHGAP6):c.1578C>A (p.Leu526=) single nucleotide variant not provided [RCV000967596] ChrX:11178151 [GRCh38]
ChrX:11196271 [GRCh37]
ChrX:Xp22.2
benign
NM_001142.2(AMELX):c.336C>A (p.Ile112=) single nucleotide variant not provided [RCV000923680] ChrX:11298739 [GRCh38]
ChrX:11316859 [GRCh37]
ChrX:Xp22.2
benign
NM_013427.3(ARHGAP6):c.570C>T (p.Tyr190=) single nucleotide variant not provided [RCV000882798] ChrX:11664259 [GRCh38]
ChrX:11682379 [GRCh37]
ChrX:Xp22.2
benign
NM_013427.3(ARHGAP6):c.2719C>G (p.Pro907Ala) single nucleotide variant not provided [RCV000879364] ChrX:11139069 [GRCh38]
ChrX:11157189 [GRCh37]
ChrX:Xp22.2
benign
NM_001142.2(AMELX):c.436G>T (p.Val146Leu) single nucleotide variant not provided [RCV000901771] ChrX:11298839 [GRCh38]
ChrX:11316959 [GRCh37]
ChrX:Xp22.2
benign
NM_013427.3(ARHGAP6):c.1908-5G>T single nucleotide variant not provided [RCV000926240] ChrX:11144253 [GRCh38]
ChrX:11162373 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392) copy number gain not provided [RCV000767802] ChrX:801301..23768392 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_013427.3(ARHGAP6):c.2710G>T (p.Val904Leu) single nucleotide variant not provided [RCV000898610] ChrX:11139078 [GRCh38]
ChrX:11157198 [GRCh37]
ChrX:Xp22.2
benign
NM_013427.3(ARHGAP6):c.2244C>T (p.Asp748=) single nucleotide variant not provided [RCV000900341] ChrX:11142246 [GRCh38]
ChrX:11160366 [GRCh37]
ChrX:Xp22.2
likely benign
NM_013427.3(ARHGAP6):c.2079G>A (p.Ser693=) single nucleotide variant not provided [RCV000899209] ChrX:11144077 [GRCh38]
ChrX:11162197 [GRCh37]
ChrX:Xp22.2
benign
NM_001142.2(AMELX):c.539C>A (p.Pro180Gln) single nucleotide variant not provided [RCV000921606] ChrX:11298942 [GRCh38]
ChrX:11317062 [GRCh37]
ChrX:Xp22.2
likely benign
NM_013427.3(ARHGAP6):c.295C>T (p.Leu99Phe) single nucleotide variant not provided [RCV000940693] ChrX:11664534 [GRCh38]
ChrX:11682654 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_013427.3(ARHGAP6):c.1239G>A (p.Leu413=) single nucleotide variant not provided [RCV000894382] ChrX:11186270 [GRCh38]
ChrX:11204390 [GRCh37]
ChrX:Xp22.2
benign
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_001142.2(AMELX):c.143del (p.Pro48fs) deletion Amelogenesis imperfecta [RCV000789003] ChrX:11298275 [GRCh38]
ChrX:11316395 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 copy number gain not provided [RCV000849574] ChrX:2190434..23795839 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.2(chrX:11091134-11291611)x2 copy number gain not provided [RCV000847203] ChrX:11091134..11291611 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-22.13(chrX:168546-17502124)x1 copy number loss not provided [RCV001007200] ChrX:168546..17502124 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:2703632-14129100)x2 copy number gain not provided [RCV000847649] ChrX:2703632..14129100 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2 copy number gain not provided [RCV001007235] ChrX:1240318..20986848 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
NM_013427.3(ARHGAP6):c.1599C>T (p.Ala533=) single nucleotide variant not provided [RCV000881139] ChrX:11178130 [GRCh38]
ChrX:11196250 [GRCh37]
ChrX:Xp22.2
benign
NM_013427.3(ARHGAP6):c.171G>A (p.Ala57=) single nucleotide variant not provided [RCV000922583] ChrX:11664658 [GRCh38]
ChrX:11682778 [GRCh37]
ChrX:Xp22.2
likely benign
NM_013427.3(ARHGAP6):c.589-9G>T single nucleotide variant not provided [RCV000974667] ChrX:11254716 [GRCh38]
ChrX:11272836 [GRCh37]
ChrX:Xp22.2
likely benign
NM_013427.3(ARHGAP6):c.2776C>T (p.Leu926=) single nucleotide variant not provided [RCV000883863] ChrX:11139012 [GRCh38]
ChrX:11157132 [GRCh37]
ChrX:Xp22.2
benign
NM_013427.3(ARHGAP6):c.2191C>A (p.Pro731Thr) single nucleotide variant not provided [RCV000885732] ChrX:11142299 [GRCh38]
ChrX:11160419 [GRCh37]
ChrX:Xp22.2
likely benign
NM_013427.3(ARHGAP6):c.2082G>A (p.Glu694=) single nucleotide variant not provided [RCV000906069] ChrX:11144074 [GRCh38]
ChrX:11162194 [GRCh37]
ChrX:Xp22.2
likely benign
NM_013427.3(ARHGAP6):c.2505C>T (p.Ala835=) single nucleotide variant not provided [RCV000897801] ChrX:11139283 [GRCh38]
ChrX:11157403 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001142.2(AMELX):c.144+8G>C single nucleotide variant not provided [RCV000918480] ChrX:11298285 [GRCh38]
ChrX:11316405 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_001142.2(AMELX):c.474G>A (p.Leu158=) single nucleotide variant not provided [RCV000911252] ChrX:11298877 [GRCh38]
ChrX:11316997 [GRCh37]
ChrX:Xp22.2
benign
NM_013427.3(ARHGAP6):c.331_333del (p.Glu111del) deletion not provided [RCV000913707] ChrX:11664496..11664498 [GRCh38]
ChrX:11682616..11682618 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001142.2(AMELX):c.570G>C (p.Val190=) single nucleotide variant not provided [RCV000935106] ChrX:11298973 [GRCh38]
ChrX:11317093 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.2(chrX:11520757-11941532)x3 copy number gain not provided [RCV001007261] ChrX:11520757..11941532 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.2(chrX:10578932-11326337)x2 copy number gain See cases [RCV001264398] ChrX:10578932..11326337 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.2(chrX:10478359-15357092)x3 copy number gain not provided [RCV001259461] ChrX:10478359..15357092 [GRCh37]
ChrX:Xp22.2
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_013427.3(ARHGAP6):c.1765G>A (p.Ala589Thr) single nucleotide variant Neurodevelopmental disorder [RCV001262663] ChrX:11169549 [GRCh38]
ChrX:11187669 [GRCh37]
ChrX:Xp22.2
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:676 AgrOrtholog
COSMIC ARHGAP6 COSMIC
Ensembl Genes ENSG00000047648 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000302312 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000338967 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000370093 UniProtKB/TrEMBL
  ENSP00000370094 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000370112 UniProtKB/Swiss-Prot
  ENSP00000435767 UniProtKB/Swiss-Prot
  ENSP00000499351 UniProtKB/TrEMBL
Ensembl Transcript ENST00000303025 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000337414 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000380717 UniProtKB/TrEMBL
  ENST00000380718 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000380736 UniProtKB/Swiss-Prot
  ENST00000495242 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000657361 UniProtKB/TrEMBL
Gene3D-CATH 1.10.555.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000047648 GTEx
HGNC ID HGNC:676 ENTREZGENE
Human Proteome Map ARHGAP6 Human Proteome Map
InterPro ARHGAP6_RhoGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rho_GTPase_activation_prot UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGAP6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RHOGAP6/36 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGAP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:395 UniProtKB/Swiss-Prot
NCBI Gene 395 ENTREZGENE
OMIM 300118 OMIM
PANTHER PTHR12635 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12635:SF6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RhoGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24960 PharmGKB
PROSITE RHOGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RhoGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DN07_HUMAN UniProtKB/TrEMBL
  H7BYE6_HUMAN UniProtKB/TrEMBL
  O43182 ENTREZGENE
  Q59HG6 ENTREZGENE, UniProtKB/TrEMBL
  RHG06_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2RWQ0 UniProtKB/Swiss-Prot
  O43437 UniProtKB/Swiss-Prot
  Q9P1B3 UniProtKB/Swiss-Prot
  Q9UK81 UniProtKB/Swiss-Prot
  Q9UK82 UniProtKB/Swiss-Prot