GDI1 (GDP dissociation inhibitor 1) - Rat Genome Database

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Gene: GDI1 (GDP dissociation inhibitor 1) Homo sapiens
Analyze
Symbol: GDI1
Name: GDP dissociation inhibitor 1
RGD ID: 731728
HGNC Page HGNC
Description: Predicted to have Rab GDP-dissociation inhibitor activity and small GTPase binding activity. Involved in negative regulation of protein targeting to membrane. Localizes to cytoplasm and midbody. Implicated in non-syndromic X-linked intellectual disability; non-syndromic X-linked intellectual disability 41; and psychotic disorder.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 1A; FLJ41411; GDI-1; GDIL; guanosine diphosphate dissociation inhibitor 1; mental retardation, X-linked 41; mental retardation, X-linked 48; MRX41; MRX48; oligophrenin-2; OPHN2; rab GDI alpha; rab GDP dissociation inhibitor alpha; rab GDP-dissociation inhibitor, alpha; RABGD1A; RABGDIA; testis secretory sperm-binding protein Li 208a; XAP-4
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 EnsemblX154,436,913 - 154,443,467 (+)EnsemblGRCh38hg38GRCh38
GRCh38X154,437,154 - 154,443,467 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,665,500 - 153,671,814 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,318,715 - 153,325,008 (+)NCBINCBI36hg18NCBI36
Build 34X153,234,158 - 153,235,516NCBI
CeleraX153,826,304 - 153,832,858 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX142,217,606 - 142,249,463 (+)NCBIHuRef
CHM1_1X153,576,897 - 153,583,451 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
axon  (IEA,ISO)
cytoplasm  (IBA,IDA,IEA)
cytosol  (TAS)
Golgi apparatus  (IEA)
midbody  (IDA)
myelin sheath  (IEA)
neuron projection  (ISO)
neuronal cell body  (IEA,ISO)
protein-containing complex  (IEA,ISO)

Molecular Function

References

Additional References at PubMed
PMID:1286667   PMID:2115118   PMID:7513052   PMID:7543319   PMID:7585614   PMID:7744738   PMID:7849400   PMID:8175798   PMID:8248200   PMID:8281148   PMID:8491184   PMID:8733135  
PMID:8826463   PMID:8836150   PMID:9106537   PMID:9490022   PMID:9674910   PMID:10751420   PMID:11076863   PMID:11256614   PMID:11583574   PMID:11741295   PMID:11809807   PMID:12198156  
PMID:12477932   PMID:12777533   PMID:12802062   PMID:14702039   PMID:15166316   PMID:15292224   PMID:15480879   PMID:15489334   PMID:15489336   PMID:15592455   PMID:15647276   PMID:16344560  
PMID:16368544   PMID:16381901   PMID:16596196   PMID:16713569   PMID:17353931   PMID:17568003   PMID:18255255   PMID:18487148   PMID:19570034   PMID:19942850   PMID:19996123   PMID:20381070  
PMID:20562859   PMID:21145461   PMID:21319273   PMID:21565611   PMID:21736009   PMID:21873635   PMID:21900206   PMID:22114354   PMID:22586326   PMID:22863883   PMID:22939629   PMID:23140504  
PMID:23815289   PMID:25346144   PMID:25416956   PMID:25694352   PMID:25737280   PMID:25910212   PMID:25921289   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26618866   PMID:26871637  
PMID:27173435   PMID:27684187   PMID:28302793   PMID:28514442   PMID:29128334   PMID:29229926   PMID:29360040   PMID:29507755   PMID:30561431   PMID:31980649   PMID:32694731  


Genomics

Comparative Map Data
GDI1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX154,436,913 - 154,443,467 (+)EnsemblGRCh38hg38GRCh38
GRCh38X154,437,154 - 154,443,467 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,665,500 - 153,671,814 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,318,715 - 153,325,008 (+)NCBINCBI36hg18NCBI36
Build 34X153,234,158 - 153,235,516NCBI
CeleraX153,826,304 - 153,832,858 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX142,217,606 - 142,249,463 (+)NCBIHuRef
CHM1_1X153,576,897 - 153,583,451 (+)NCBICHM1_1
Gdi1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X73,348,618 - 73,355,473 (+)NCBIGRCm39mm39
GRCm39 EnsemblX73,348,604 - 73,355,468 (+)Ensembl
GRCm38X74,305,012 - 74,311,867 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX74,304,998 - 74,311,862 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X71,550,351 - 71,557,206 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X70,557,976 - 70,564,579 (+)NCBImm8
CeleraX65,558,803 - 65,565,658 (+)NCBICelera
Cytogenetic MapXA7.3NCBI
cM MapX37.97NCBI
Gdi1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X152,087,611 - 152,094,274 (+)NCBI
Rnor_6.0 EnsemblX156,400,736 - 156,407,404 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X156,400,734 - 156,407,396 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01152,140,881 - 152,147,543 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X160,299,115 - 160,305,777 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X160,376,327 - 160,382,037 (-)NCBI
Celera1135,802,481 - 135,809,143 (-)NCBICelera
Cytogenetic MapXq37NCBI
Gdi1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955580934,798 - 941,081 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955580935,021 - 941,081 (+)NCBIChiLan1.0ChiLan1.0
GDI1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X153,749,661 - 153,755,877 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX153,749,661 - 153,755,877 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X143,878,690 - 143,885,251 (+)NCBIMhudiblu_PPA_v0panPan3
GDI1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X122,141,633 - 122,146,724 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX122,141,566 - 122,146,824 (+)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X125,283,325 - 125,288,416 (+)NCBI
UMICH_Zoey_3.1X121,052,346 - 121,057,437 (+)NCBI
UNSW_CanFamBas_1.0X123,567,480 - 123,572,571 (+)NCBI
UU_Cfam_GSD_1.0X123,329,171 - 123,334,262 (+)NCBI
Gdi1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X119,451,096 - 119,457,045 (+)NCBI
SpeTri2.0NW_0049368091,188,793 - 1,194,816 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GDI1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX124,960,834 - 124,967,289 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X124,960,835 - 124,966,833 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X143,687,134 - 143,692,968 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GDI1
(Chlorocebus sabaeus - African green monkey)
No map positions available.
Gdi1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624946902,831 - 908,815 (+)NCBI

Position Markers
SGC32232  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,649,909 - 153,650,059UniSTSGRCh37
Build 36X153,303,103 - 153,303,253RGDNCBI36
CeleraX153,810,963 - 153,811,113RGD
Cytogenetic MapXq28UniSTS
HuRefX142,227,441 - 142,227,591UniSTS
GeneMap99-GB4 RH MapX350.95UniSTS
Whitehead-RH MapX323.1UniSTS
WI-9327  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,664,581 - 153,664,698UniSTSGRCh37
Build 36X153,317,775 - 153,317,892RGDNCBI36
CeleraX153,825,627 - 153,825,744RGD
Cytogenetic MapXq28UniSTS
GeneMap99-GB4 RH MapX353.15UniSTS
Whitehead-RH MapX324.6UniSTS
STS-M78866  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,664,646 - 153,664,733UniSTSGRCh37
Build 36X153,317,840 - 153,317,927RGDNCBI36
CeleraX153,825,692 - 153,825,779RGD
Cytogenetic MapXq28UniSTS
GeneMap99-GB4 RH MapX350.95UniSTS
sWXD2362  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,664,187 - 153,664,785UniSTSGRCh37
Build 36X153,317,381 - 153,317,979RGDNCBI36
CeleraX153,825,233 - 153,825,831RGD
Cytogenetic MapXq28UniSTS
DXS7587  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,664,646 - 153,664,733UniSTSGRCh37
Build 36X153,317,840 - 153,317,927RGDNCBI36
CeleraX153,825,692 - 153,825,779RGD
Cytogenetic MapXq28UniSTS
GDB:548776  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,640,022 - 153,640,441UniSTSGRCh37
Build 36X153,293,216 - 153,293,635RGDNCBI36
CeleraX153,801,080 - 153,801,498RGD
Cytogenetic MapXq28UniSTS
HuRefX142,217,412 - 142,217,830UniSTS
G65817  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,652,227 - 153,653,041UniSTSGRCh37
Build 36X153,305,421 - 153,306,235RGDNCBI36
CeleraX153,813,278 - 153,814,091RGD
Cytogenetic MapXq28UniSTS
HuRefX142,229,784 - 142,230,597UniSTS
G65818  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,652,646 - 153,653,634UniSTSGRCh37
Build 36X153,305,840 - 153,306,828RGDNCBI36
CeleraX153,813,696 - 153,814,684RGD
Cytogenetic MapXq28UniSTS
HuRefX142,230,202 - 142,231,190UniSTS
G65808  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,658,788 - 153,659,688UniSTSGRCh37
Build 36X153,311,982 - 153,312,882RGDNCBI36
CeleraX153,819,834 - 153,820,734RGD
Cytogenetic MapXq28UniSTS
HuRefX142,236,374 - 142,237,274UniSTS
G65809  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,657,895 - 153,658,852UniSTSGRCh37
Build 36X153,311,089 - 153,312,046RGDNCBI36
CeleraX153,818,941 - 153,819,898RGD
Cytogenetic MapXq28UniSTS
HuRefX142,235,481 - 142,236,438UniSTS
G65814  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,646,676 - 153,647,612UniSTSGRCh37
Build 36X153,299,870 - 153,300,806RGDNCBI36
CeleraX153,807,730 - 153,808,666RGD
Cytogenetic MapXq28UniSTS
HuRefX142,224,208 - 142,225,144UniSTS
G65811  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,644,963 - 153,645,901UniSTSGRCh37
Build 36X153,298,157 - 153,299,095RGDNCBI36
CeleraX153,806,017 - 153,806,955RGD
Cytogenetic MapXq28UniSTS
HuRefX142,222,495 - 142,223,433UniSTS
G67208  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,670,040 - 153,670,769UniSTSGRCh37
Build 36X153,323,234 - 153,323,963RGDNCBI36
CeleraX153,831,084 - 153,831,813RGD
Cytogenetic MapXq28UniSTS
HuRefX142,247,689 - 142,248,418UniSTS
G67209  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,668,601 - 153,669,748UniSTSGRCh37
Build 36X153,321,795 - 153,322,942RGDNCBI36
CeleraX153,829,645 - 153,830,792RGD
Cytogenetic MapXq28UniSTS
HuRefX142,246,250 - 142,247,397UniSTS
G67210  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,667,720 - 153,668,360UniSTSGRCh37
Build 36X153,320,914 - 153,321,554RGDNCBI36
CeleraX153,828,765 - 153,829,404RGD
Cytogenetic MapXq28UniSTS
HuRefX142,245,370 - 142,246,009UniSTS
G67211  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,666,442 - 153,667,637UniSTSGRCh37
Build 36X153,319,636 - 153,320,831RGDNCBI36
CeleraX153,827,487 - 153,828,682RGD
Cytogenetic MapXq28UniSTS
HuRefX142,244,092 - 142,245,287UniSTS
ECD01292  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,641,425 - 153,642,294UniSTSGRCh37
Build 36X153,294,619 - 153,295,488RGDNCBI36
CeleraX153,802,482 - 153,803,351RGD
Cytogenetic MapXq28UniSTS
HuRefX142,218,815 - 142,219,683UniSTS
ECD02625  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,663,396 - 153,664,219UniSTSGRCh37
Build 36X153,316,590 - 153,317,413RGDNCBI36
CeleraX153,824,442 - 153,825,265RGD
Cytogenetic MapXq28UniSTS
HuRefX142,240,982 - 142,241,805UniSTS
ECD02847  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,664,271 - 153,665,086UniSTSGRCh37
Build 36X153,317,465 - 153,318,280RGDNCBI36
CeleraX153,825,317 - 153,826,132RGD
Cytogenetic MapXq28UniSTS
ECD03579  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,649,390 - 153,650,180UniSTSGRCh37
Build 36X153,302,584 - 153,303,374RGDNCBI36
CeleraX153,810,444 - 153,811,234RGD
Cytogenetic MapXq28UniSTS
HuRefX142,226,922 - 142,227,712UniSTS
ECD04044  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,648,540 - 153,649,316UniSTSGRCh37
Build 36X153,301,734 - 153,302,510RGDNCBI36
CeleraX153,809,594 - 153,810,370RGD
Cytogenetic MapXq28UniSTS
HuRefX142,226,072 - 142,226,848UniSTS
ECD04436  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,669,103 - 153,669,867UniSTSGRCh37
Build 36X153,322,297 - 153,323,061RGDNCBI36
CeleraX153,830,147 - 153,830,911RGD
Cytogenetic MapXq28UniSTS
HuRefX142,246,752 - 142,247,516UniSTS
ECD04849  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,669,924 - 153,670,676UniSTSGRCh37
Build 36X153,323,118 - 153,323,870RGDNCBI36
CeleraX153,830,968 - 153,831,720RGD
Cytogenetic MapXq28UniSTS
HuRefX142,247,573 - 142,248,325UniSTS
ECD04850  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,670,724 - 153,671,476UniSTSGRCh37
Build 36X153,323,918 - 153,324,670RGDNCBI36
CeleraX153,831,768 - 153,832,520RGD
Cytogenetic MapXq28UniSTS
HuRefX142,248,373 - 142,249,125UniSTS
ECD04987  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,668,251 - 153,668,999UniSTSGRCh37
Build 36X153,321,445 - 153,322,193RGDNCBI36
CeleraX153,829,295 - 153,830,043RGD
Cytogenetic MapXq28UniSTS
HuRefX142,245,900 - 142,246,648UniSTS
ECD05101  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,646,924 - 153,647,669UniSTSGRCh37
Build 36X153,300,118 - 153,300,863RGDNCBI36
CeleraX153,807,978 - 153,808,723RGD
Cytogenetic MapXq28UniSTS
HuRefX142,224,456 - 142,225,201UniSTS
ECD06265  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,662,448 - 153,663,161UniSTSGRCh37
Build 36X153,315,642 - 153,316,355RGDNCBI36
CeleraX153,823,494 - 153,824,207RGD
Cytogenetic MapXq28UniSTS
HuRefX142,240,034 - 142,240,747UniSTS
ECD06610  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,645,717 - 153,646,421UniSTSGRCh37
Build 36X153,298,911 - 153,299,615RGDNCBI36
CeleraX153,806,771 - 153,807,475RGD
Cytogenetic MapXq28UniSTS
HuRefX142,223,249 - 142,223,953UniSTS
ECD06788  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,661,679 - 153,662,378UniSTSGRCh37
Build 36X153,314,873 - 153,315,572RGDNCBI36
CeleraX153,822,725 - 153,823,424RGD
Cytogenetic MapXq28UniSTS
HuRefX142,239,265 - 142,239,964UniSTS
ECD07050  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,659,401 - 153,660,093UniSTSGRCh37
Build 36X153,312,595 - 153,313,287RGDNCBI36
CeleraX153,820,447 - 153,821,139RGD
Cytogenetic MapXq28UniSTS
HuRefX142,236,987 - 142,237,679UniSTS
ECD07189  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,667,026 - 153,667,714UniSTSGRCh37
Build 36X153,320,220 - 153,320,908RGDNCBI36
CeleraX153,828,071 - 153,828,759RGD
Cytogenetic MapXq28UniSTS
HuRefX142,244,676 - 142,245,364UniSTS
ECD07224  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,640,446 - 153,641,133UniSTSGRCh37
Build 36X153,293,640 - 153,294,327RGDNCBI36
CeleraX153,801,503 - 153,802,190RGD
Cytogenetic MapXq28UniSTS
HuRefX142,217,835 - 142,218,522UniSTS
ECD07225  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,660,888 - 153,661,575UniSTSGRCh37
Build 36X153,314,082 - 153,314,769RGDNCBI36
CeleraX153,821,934 - 153,822,621RGD
Cytogenetic MapXq28UniSTS
HuRefX142,238,474 - 142,239,161UniSTS
ECD07324  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,671,574 - 153,672,258UniSTSGRCh37
Build 36X153,324,768 - 153,325,452RGDNCBI36
CeleraX153,832,618 - 153,833,302RGD
Cytogenetic MapXq28UniSTS
HuRefX142,249,223 - 142,249,907UniSTS
ECD07523  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,665,599 - 153,666,278UniSTSGRCh37
Build 36X153,318,793 - 153,319,472RGDNCBI36
CeleraX153,826,644 - 153,827,323RGD
Cytogenetic MapXq28UniSTS
ECD07603  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,660,137 - 153,660,814UniSTSGRCh37
Build 36X153,313,331 - 153,314,008RGDNCBI36
CeleraX153,821,183 - 153,821,860RGD
Cytogenetic MapXq28UniSTS
HuRefX142,237,723 - 142,238,400UniSTS
ECD07887  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,647,747 - 153,648,416UniSTSGRCh37
Build 36X153,300,941 - 153,301,610RGDNCBI36
CeleraX153,808,801 - 153,809,470RGD
Cytogenetic MapXq28UniSTS
HuRefX142,225,279 - 142,225,948UniSTS
ECD08010  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,666,347 - 153,667,013UniSTSGRCh37
Build 36X153,319,541 - 153,320,207RGDNCBI36
CeleraX153,827,392 - 153,828,058RGD
Cytogenetic MapXq28UniSTS
HuRefX142,243,997 - 142,244,663UniSTS
ECD13703  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,657,178 - 153,657,689UniSTSGRCh37
Build 36X153,310,372 - 153,310,883RGDNCBI36
CeleraX153,818,224 - 153,818,735RGD
Cytogenetic MapXq28UniSTS
HuRefX142,234,764 - 142,235,275UniSTS
ECD16655  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,655,540 - 153,655,971UniSTSGRCh37
Build 36X153,308,734 - 153,309,165RGDNCBI36
CeleraX153,816,587 - 153,817,018RGD
Cytogenetic MapXq28UniSTS
HuRefX142,233,424 - 142,233,855UniSTS
ECD17423  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,640,029 - 153,640,429UniSTSGRCh37
Build 36X153,293,223 - 153,293,623RGDNCBI36
CeleraX153,801,087 - 153,801,486RGD
Cytogenetic MapXq28UniSTS
HuRefX142,217,419 - 142,217,818UniSTS
ECD17986  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,657,932 - 153,658,309UniSTSGRCh37
Build 36X153,311,126 - 153,311,503RGDNCBI36
CeleraX153,818,978 - 153,819,355RGD
Cytogenetic MapXq28UniSTS
HuRefX142,235,518 - 142,235,895UniSTS
ECD20550  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,646,457 - 153,646,737UniSTSGRCh37
Build 36X153,299,651 - 153,299,931RGDNCBI36
CeleraX153,807,511 - 153,807,791RGD
Cytogenetic MapXq28UniSTS
HuRefX142,223,989 - 142,224,269UniSTS
ECD21139  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,656,782 - 153,657,042UniSTSGRCh37
Build 36X153,309,976 - 153,310,236RGDNCBI36
CeleraX153,817,828 - 153,818,088RGD
Cytogenetic MapXq28UniSTS
HuRefX142,234,368 - 142,234,628UniSTS
ECD23405  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,655,246 - 153,655,436UniSTSGRCh37
Build 36X153,308,440 - 153,308,630RGDNCBI36
CeleraX153,816,293 - 153,816,483RGD
Cytogenetic MapXq28UniSTS
HuRefX142,233,130 - 142,233,320UniSTS
REN89465  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,639,278 - 153,639,504UniSTSGRCh37
Build 36X153,292,472 - 153,292,698RGDNCBI36
CeleraX153,800,337 - 153,800,563RGD
Cytogenetic MapXq28UniSTS
HuRefX142,216,668 - 142,216,894UniSTS
REN89467  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,639,514 - 153,639,739UniSTSGRCh37
Build 36X153,292,708 - 153,292,933RGDNCBI36
CeleraX153,800,573 - 153,800,798RGD
Cytogenetic MapXq28UniSTS
HuRefX142,216,904 - 142,217,129UniSTS
REN89469  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,640,030 - 153,640,292UniSTSGRCh37
Build 36X153,293,224 - 153,293,486RGDNCBI36
CeleraX153,801,088 - 153,801,349RGD
Cytogenetic MapXq28UniSTS
HuRefX142,217,420 - 142,217,681UniSTS
REN89470  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,640,274 - 153,640,531UniSTSGRCh37
Build 36X153,293,468 - 153,293,725RGDNCBI36
CeleraX153,801,331 - 153,801,588RGD
Cytogenetic MapXq28UniSTS
HuRefX142,217,663 - 142,217,920UniSTS
REN89471  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,640,529 - 153,640,774UniSTSGRCh37
Build 36X153,293,723 - 153,293,968RGDNCBI36
CeleraX153,801,586 - 153,801,831RGD
Cytogenetic MapXq28UniSTS
HuRefX142,217,918 - 142,218,163UniSTS
REN89472  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,640,722 - 153,640,983UniSTSGRCh37
Build 36X153,293,916 - 153,294,177RGDNCBI36
CeleraX153,801,779 - 153,802,040RGD
Cytogenetic MapXq28UniSTS
HuRefX142,218,111 - 142,218,372UniSTS
REN89473  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,640,960 - 153,641,209UniSTSGRCh37
Build 36X153,294,154 - 153,294,403RGDNCBI36
CeleraX153,802,017 - 153,802,266RGD
Cytogenetic MapXq28UniSTS
HuRefX142,218,349 - 142,218,598UniSTS
REN89474  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,641,185 - 153,641,429UniSTSGRCh37
Build 36X153,294,379 - 153,294,623RGDNCBI36
CeleraX153,802,242 - 153,802,486RGD
Cytogenetic MapXq28UniSTS
HuRefX142,218,574 - 142,218,819UniSTS
REN89476  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,641,648 - 153,641,879UniSTSGRCh37
Build 36X153,294,842 - 153,295,073RGDNCBI36
CeleraX153,802,705 - 153,802,936RGD
Cytogenetic MapXq28UniSTS
HuRefX142,219,037 - 142,219,268UniSTS
REN89477  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,641,849 - 153,642,098UniSTSGRCh37
Build 36X153,295,043 - 153,295,292RGDNCBI36
CeleraX153,802,906 - 153,803,155RGD
Cytogenetic MapXq28UniSTS
HuRefX142,219,238 - 142,219,487UniSTS
REN89478  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,642,076 - 153,642,341UniSTSGRCh37
Build 36X153,295,270 - 153,295,535RGDNCBI36
CeleraX153,803,133 - 153,803,398RGD
Cytogenetic MapXq28UniSTS
HuRefX142,219,465 - 142,219,730UniSTS
REN89479  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,642,340 - 153,642,592UniSTSGRCh37
Build 36X153,295,534 - 153,295,786RGDNCBI36
CeleraX153,803,397 - 153,803,649RGD
Cytogenetic MapXq28UniSTS
HuRefX142,219,729 - 142,219,981UniSTS
REN89480  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,642,528 - 153,642,753UniSTSGRCh37
Build 36X153,295,722 - 153,295,947RGDNCBI36
CeleraX153,803,585 - 153,803,810RGD
Cytogenetic MapXq28UniSTS
HuRefX142,219,917 - 142,220,142UniSTS
REN89481  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,643,222 - 153,643,477UniSTSGRCh37
Build 36X153,296,416 - 153,296,671RGDNCBI36
CeleraX153,804,278 - 153,804,533RGD
Cytogenetic MapXq28UniSTS
HuRefX142,220,610 - 142,220,865UniSTS
REN89482  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,643,378 - 153,643,633UniSTSGRCh37
Build 36X153,296,572 - 153,296,827RGDNCBI36
CeleraX153,804,434 - 153,804,689RGD
Cytogenetic MapXq28UniSTS
HuRefX142,220,766 - 142,221,021UniSTS
REN89483  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,643,602 - 153,643,849UniSTSGRCh37
Build 36X153,296,796 - 153,297,043RGDNCBI36
CeleraX153,804,658 - 153,804,906RGD
Cytogenetic MapXq28UniSTS
HuRefX142,220,990 - 142,221,238UniSTS
REN89484  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,643,826 - 153,644,055UniSTSGRCh37
Build 36X153,297,020 - 153,297,249RGDNCBI36
CeleraX153,804,883 - 153,805,112RGD
Cytogenetic MapXq28UniSTS
HuRefX142,221,215 - 142,221,444UniSTS
REN89485  
Human AssemblyChrPosition (strand)SourceJBrowse
CeleraX153,805,139 - 153,805,372RGD
Cytogenetic MapXq28UniSTS
HuRefX142,221,472 - 142,221,705UniSTS
REN89487  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,644,966 - 153,645,193UniSTSGRCh37
Build 36X153,298,160 - 153,298,387RGDNCBI36
CeleraX153,806,020 - 153,806,247RGD
Cytogenetic MapXq28UniSTS
HuRefX142,222,498 - 142,222,725UniSTS
REN89489  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,645,723 - 153,645,971UniSTSGRCh37
Build 36X153,298,917 - 153,299,165RGDNCBI36
CeleraX153,806,777 - 153,807,025RGD
Cytogenetic MapXq28UniSTS
HuRefX142,223,255 - 142,223,503UniSTS
REN89490  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,645,965 - 153,646,230UniSTSGRCh37
Build 36X153,299,159 - 153,299,424RGDNCBI36
CeleraX153,807,019 - 153,807,284RGD
Cytogenetic MapXq28UniSTS
HuRefX142,223,497 - 142,223,762UniSTS
REN89491  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,646,205 - 153,646,466UniSTSGRCh37
Build 36X153,299,399 - 153,299,660RGDNCBI36
CeleraX153,807,259 - 153,807,520RGD
Cytogenetic MapXq28UniSTS
HuRefX142,223,737 - 142,223,998UniSTS
REN89492  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,646,443 - 153,646,693UniSTSGRCh37
Build 36X153,299,637 - 153,299,887RGDNCBI36
CeleraX153,807,497 - 153,807,747RGD
Cytogenetic MapXq28UniSTS
HuRefX142,223,975 - 142,224,225UniSTS
REN89493  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,646,669 - 153,646,893UniSTSGRCh37
Build 36X153,299,863 - 153,300,087RGDNCBI36
CeleraX153,807,723 - 153,807,947RGD
Cytogenetic MapXq28UniSTS
HuRefX142,224,201 - 142,224,425UniSTS
REN89494  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,646,839 - 153,647,101UniSTSGRCh37
Build 36X153,300,033 - 153,300,295RGDNCBI36
CeleraX153,807,893 - 153,808,155RGD
Cytogenetic MapXq28UniSTS
HuRefX142,224,371 - 142,224,633UniSTS
REN89495  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,647,100 - 153,647,350UniSTSGRCh37
Build 36X153,300,294 - 153,300,544RGDNCBI36
CeleraX153,808,154 - 153,808,404RGD
Cytogenetic MapXq28UniSTS
HuRefX142,224,632 - 142,224,882UniSTS
REN89497  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,647,557 - 153,647,813UniSTSGRCh37
Build 36X153,300,751 - 153,301,007RGDNCBI36
CeleraX153,808,611 - 153,808,867RGD
Cytogenetic MapXq28UniSTS
HuRefX142,225,089 - 142,225,345UniSTS
REN89498  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,647,799 - 153,648,062UniSTSGRCh37
Build 36X153,300,993 - 153,301,256RGDNCBI36
CeleraX153,808,853 - 153,809,116RGD
Cytogenetic MapXq28UniSTS
HuRefX142,225,331 - 142,225,594UniSTS
REN89499  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,648,041 - 153,648,287UniSTSGRCh37
Build 36X153,301,235 - 153,301,481RGDNCBI36
CeleraX153,809,095 - 153,809,341RGD
Cytogenetic MapXq28UniSTS
HuRefX142,225,573 - 142,225,819UniSTS
REN89500  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,648,262 - 153,648,503UniSTSGRCh37
Build 36X153,301,456 - 153,301,697RGDNCBI36
CeleraX153,809,316 - 153,809,557RGD
Cytogenetic MapXq28UniSTS
HuRefX142,225,794 - 142,226,035UniSTS
REN89501  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,648,480 - 153,648,729UniSTSGRCh37
Build 36X153,301,674 - 153,301,923RGDNCBI36
CeleraX153,809,534 - 153,809,783RGD
Cytogenetic MapXq28UniSTS
HuRefX142,226,012 - 142,226,261UniSTS
REN89502  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,648,722 - 153,648,968UniSTSGRCh37
Build 36X153,301,916 - 153,302,162RGDNCBI36
CeleraX153,809,776 - 153,810,022RGD
Cytogenetic MapXq28UniSTS
HuRefX142,226,254 - 142,226,500UniSTS
REN89503  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,648,849 - 153,649,083UniSTSGRCh37
Build 36X153,302,043 - 153,302,277RGDNCBI36
CeleraX153,809,903 - 153,810,137RGD
Cytogenetic MapXq28UniSTS
HuRefX142,226,381 - 142,226,615UniSTS
REN89504  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,649,060 - 153,649,300UniSTSGRCh37
Build 36X153,302,254 - 153,302,494RGDNCBI36
CeleraX153,810,114 - 153,810,354RGD
Cytogenetic MapXq28UniSTS
HuRefX142,226,592 - 142,226,832UniSTS
REN89505  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,649,291 - 153,649,528UniSTSGRCh37
Build 36X153,302,485 - 153,302,722RGDNCBI36
CeleraX153,810,345 - 153,810,582RGD
Cytogenetic MapXq28UniSTS
HuRefX142,226,823 - 142,227,060UniSTS
REN89506  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,649,501 - 153,649,763UniSTSGRCh37
Build 36X153,302,695 - 153,302,957RGDNCBI36
CeleraX153,810,555 - 153,810,817RGD
Cytogenetic MapXq28UniSTS
HuRefX142,227,033 - 142,227,295UniSTS
REN89507  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,649,753 - 153,649,998UniSTSGRCh37
Build 36X153,302,947 - 153,303,192RGDNCBI36
CeleraX153,810,807 - 153,811,052RGD
Cytogenetic MapXq28UniSTS
HuRefX142,227,285 - 142,227,530UniSTS
REN89508  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,649,975 - 153,650,237UniSTSGRCh37
Build 36X153,303,169 - 153,303,431RGDNCBI36
CeleraX153,811,029 - 153,811,291RGD
Cytogenetic MapXq28UniSTS
HuRefX142,227,507 - 142,227,769UniSTS
REN89512  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,652,016 - 153,652,240UniSTSGRCh37
Build 36X153,305,210 - 153,305,434RGDNCBI36
CeleraX153,813,067 - 153,813,291RGD
Cytogenetic MapXq28UniSTS
HuRefX142,229,573 - 142,229,797UniSTS
REN89513  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,652,082 - 153,652,334UniSTSGRCh37
Build 36X153,305,276 - 153,305,528RGDNCBI36
CeleraX153,813,133 - 153,813,385RGD
Cytogenetic MapXq28UniSTS
HuRefX142,229,639 - 142,229,891UniSTS
REN89514  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,652,642 - 153,652,877UniSTSGRCh37
Build 36X153,305,836 - 153,306,071RGDNCBI36
CeleraX153,813,692 - 153,813,927RGD
Cytogenetic MapXq28UniSTS
HuRefX142,230,198 - 142,230,433UniSTS
REN89515  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,652,868 - 153,653,111UniSTSGRCh37
Build 36X153,306,062 - 153,306,305RGDNCBI36
CeleraX153,813,918 - 153,814,161RGD
Cytogenetic MapXq28UniSTS
HuRefX142,230,424 - 142,230,667UniSTS
REN89516  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,652,974 - 153,653,210UniSTSGRCh37
Build 36X153,306,168 - 153,306,404RGDNCBI36
CeleraX153,814,024 - 153,814,260RGD
Cytogenetic MapXq28UniSTS
HuRefX142,230,530 - 142,230,766UniSTS
REN89517  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,653,475 - 153,653,699UniSTSGRCh37
Build 36X153,306,669 - 153,306,893RGDNCBI36
CeleraX153,814,525 - 153,814,749RGD
Cytogenetic MapXq28UniSTS
HuRefX142,231,031 - 142,231,255UniSTS
REN89518  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,653,664 - 153,653,911UniSTSGRCh37
Build 36X153,306,858 - 153,307,105RGDNCBI36
CeleraX153,814,714 - 153,814,961RGD
Cytogenetic MapXq28UniSTS
HuRefX142,231,220 - 142,231,467UniSTS
REN89519  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,653,881 - 153,654,142UniSTSGRCh37
Build 36X153,307,075 - 153,307,336RGDNCBI36
CeleraX153,814,931 - 153,815,192RGD
Cytogenetic MapXq28UniSTS
HuRefX142,231,437 - 142,231,698UniSTS
REN89520  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,654,028 - 153,654,274UniSTSGRCh37
Build 36X153,307,222 - 153,307,468RGDNCBI36
CeleraX153,815,078 - 153,815,324RGD
Cytogenetic MapXq28UniSTS
HuRefX142,231,584 - 142,231,830UniSTS
REN89522  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,655,222 - 153,655,459UniSTSGRCh37
Build 36X153,308,416 - 153,308,653RGDNCBI36
CeleraX153,816,269 - 153,816,506RGD
Cytogenetic MapXq28UniSTS
HuRefX142,233,106 - 142,233,343UniSTS
REN89523  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,655,437 - 153,655,668UniSTSGRCh37
Build 36X153,308,631 - 153,308,862RGDNCBI36
CeleraX153,816,484 - 153,816,715RGD
Cytogenetic MapXq28UniSTS
HuRefX142,233,321 - 142,233,552UniSTS
REN89524  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,655,648 - 153,655,888UniSTSGRCh37
Build 36X153,308,842 - 153,309,082RGDNCBI36
CeleraX153,816,695 - 153,816,935RGD
Cytogenetic MapXq28UniSTS
HuRefX142,233,532 - 142,233,772UniSTS
REN89530  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,656,787 - 153,657,044UniSTSGRCh37
Build 36X153,309,981 - 153,310,238RGDNCBI36
CeleraX153,817,833 - 153,818,090RGD
Cytogenetic MapXq28UniSTS
HuRefX142,234,373 - 142,234,630UniSTS
REN89531  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,657,178 - 153,657,435UniSTSGRCh37
Build 36X153,310,372 - 153,310,629RGDNCBI36
CeleraX153,818,224 - 153,818,481RGD
Cytogenetic MapXq28UniSTS
HuRefX142,234,764 - 142,235,021UniSTS
REN89532  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,657,417 - 153,657,650UniSTSGRCh37
Build 36X153,310,611 - 153,310,844RGDNCBI36
CeleraX153,818,463 - 153,818,696RGD
Cytogenetic MapXq28UniSTS
HuRefX142,235,003 - 142,235,236UniSTS
REN89533  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,657,614 - 153,657,865UniSTSGRCh37
Build 36X153,310,808 - 153,311,059RGDNCBI36
CeleraX153,818,660 - 153,818,911RGD
Cytogenetic MapXq28UniSTS
HuRefX142,235,200 - 142,235,451UniSTS
REN89535  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,658,048 - 153,658,309UniSTSGRCh37
Build 36X153,311,242 - 153,311,503RGDNCBI36
CeleraX153,819,094 - 153,819,355RGD
Cytogenetic MapXq28UniSTS
HuRefX142,235,634 - 142,235,895UniSTS
REN89536  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,658,211 - 153,658,436UniSTSGRCh37
Build 36X153,311,405 - 153,311,630RGDNCBI36
CeleraX153,819,257 - 153,819,482RGD
Cytogenetic MapXq28UniSTS
HuRefX142,235,797 - 142,236,022UniSTS
REN89537  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,658,786 - 153,659,011UniSTSGRCh37
Build 36X153,311,980 - 153,312,205RGDNCBI36
CeleraX153,819,832 - 153,820,057RGD
Cytogenetic MapXq28UniSTS
HuRefX142,236,372 - 142,236,597UniSTS
REN89538  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,659,007 - 153,659,252UniSTSGRCh37
Build 36X153,312,201 - 153,312,446RGDNCBI36
CeleraX153,820,053 - 153,820,298RGD
Cytogenetic MapXq28UniSTS
HuRefX142,236,593 - 142,236,838UniSTS
REN89539  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,659,225 - 153,659,470UniSTSGRCh37
Build 36X153,312,419 - 153,312,664RGDNCBI36
CeleraX153,820,271 - 153,820,516RGD
Cytogenetic MapXq28UniSTS
HuRefX142,236,811 - 142,237,056UniSTS
REN89540  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,659,449 - 153,659,690UniSTSGRCh37
Build 36X153,312,643 - 153,312,884RGDNCBI36
CeleraX153,820,495 - 153,820,736RGD
Cytogenetic MapXq28UniSTS
HuRefX142,237,035 - 142,237,276UniSTS
REN89541  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,659,667 - 153,659,919UniSTSGRCh37
Build 36X153,312,861 - 153,313,113RGDNCBI36
CeleraX153,820,713 - 153,820,965RGD
Cytogenetic MapXq28UniSTS
HuRefX142,237,253 - 142,237,505UniSTS
REN89543  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,660,144 - 153,660,370UniSTSGRCh37
Build 36X153,313,338 - 153,313,564RGDNCBI36
CeleraX153,821,190 - 153,821,416RGD
Cytogenetic MapXq28UniSTS
HuRefX142,237,730 - 142,237,956UniSTS
REN89545  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,660,577 - 153,660,814UniSTSGRCh37
Build 36X153,313,771 - 153,314,008RGDNCBI36
CeleraX153,821,623 - 153,821,860RGD
Cytogenetic MapXq28UniSTS
HuRefX142,238,163 - 142,238,400UniSTS
REN89546  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,660,789 - 153,661,035UniSTSGRCh37
Build 36X153,313,983 - 153,314,229RGDNCBI36
CeleraX153,821,835 - 153,822,081RGD
Cytogenetic MapXq28UniSTS
HuRefX142,238,375 - 142,238,621UniSTS
REN89547  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,661,014 - 153,661,282UniSTSGRCh37
Build 36X153,314,208 - 153,314,476RGDNCBI36
CeleraX153,822,060 - 153,822,328RGD
Cytogenetic MapXq28UniSTS
HuRefX142,238,600 - 142,238,868UniSTS
REN89548  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,661,263 - 153,661,507UniSTSGRCh37
Build 36X153,314,457 - 153,314,701RGDNCBI36
CeleraX153,822,309 - 153,822,553RGD
Cytogenetic MapXq28UniSTS
HuRefX142,238,849 - 142,239,093UniSTS
REN89549  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,661,486 - 153,661,732UniSTSGRCh37
Build 36X153,314,680 - 153,314,926RGDNCBI36
CeleraX153,822,532 - 153,822,778RGD
Cytogenetic MapXq28UniSTS
HuRefX142,239,072 - 142,239,318UniSTS
REN89550  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,661,706 - 153,661,974UniSTSGRCh37
Build 36X153,314,900 - 153,315,168RGDNCBI36
CeleraX153,822,752 - 153,823,020RGD
Cytogenetic MapXq28UniSTS
HuRefX142,239,292 - 142,239,560UniSTS
REN89552  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,662,209 - 153,662,458UniSTSGRCh37
Build 36X153,315,403 - 153,315,652RGDNCBI36
CeleraX153,823,255 - 153,823,504RGD
Cytogenetic MapXq28UniSTS
HuRefX142,239,795 - 142,240,044UniSTS
REN89553  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,662,445 - 153,662,706UniSTSGRCh37
Build 36X153,315,639 - 153,315,900RGDNCBI36
CeleraX153,823,491 - 153,823,752RGD
Cytogenetic MapXq28UniSTS
HuRefX142,240,031 - 142,240,292UniSTS
REN89554  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,662,683 - 153,662,954UniSTSGRCh37
Build 36X153,315,877 - 153,316,148RGDNCBI36
CeleraX153,823,729 - 153,824,000RGD
Cytogenetic MapXq28UniSTS
HuRefX142,240,269 - 142,240,540UniSTS
REN89555  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,662,932 - 153,663,163UniSTSGRCh37
Build 36X153,316,126 - 153,316,357RGDNCBI36
CeleraX153,823,978 - 153,824,209RGD
Cytogenetic MapXq28UniSTS
HuRefX142,240,518 - 142,240,749UniSTS
REN89556  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,663,146 - 153,663,415UniSTSGRCh37
Build 36X153,316,340 - 153,316,609RGDNCBI36
CeleraX153,824,192 - 153,824,461RGD
Cytogenetic MapXq28UniSTS
HuRefX142,240,732 - 142,241,001UniSTS
REN89557  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,663,390 - 153,663,629UniSTSGRCh37
Build 36X153,316,584 - 153,316,823RGDNCBI36
CeleraX153,824,436 - 153,824,675RGD
Cytogenetic MapXq28UniSTS
HuRefX142,240,976 - 142,241,215UniSTS
REN89558  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,663,608 - 153,663,851UniSTSGRCh37
Build 36X153,316,802 - 153,317,045RGDNCBI36
CeleraX153,824,654 - 153,824,897RGD
Cytogenetic MapXq28UniSTS
HuRefX142,241,194 - 142,241,437UniSTS
REN89559  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,663,831 - 153,664,076UniSTSGRCh37
Build 36X153,317,025 - 153,317,270RGDNCBI36
CeleraX153,824,877 - 153,825,122RGD
Cytogenetic MapXq28UniSTS
HuRefX142,241,417 - 142,241,662UniSTS
REN89560  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,664,073 - 153,664,325UniSTSGRCh37
Build 36X153,317,267 - 153,317,519RGDNCBI36
CeleraX153,825,119 - 153,825,371RGD
Cytogenetic MapXq28UniSTS
HuRefX142,241,659 - 142,241,911UniSTS
REN89561  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,664,312 - 153,664,578UniSTSGRCh37
Build 36X153,317,506 - 153,317,772RGDNCBI36
CeleraX153,825,358 - 153,825,624RGD
Cytogenetic MapXq28UniSTS
HuRefX142,241,898 - 142,242,164UniSTS
REN89562  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,664,577 - 153,664,825UniSTSGRCh37
Build 36X153,317,771 - 153,318,019RGDNCBI36
CeleraX153,825,623 - 153,825,871RGD
Cytogenetic MapXq28UniSTS
REN89563  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,664,822 - 153,665,086UniSTSGRCh37
Build 36X153,318,016 - 153,318,280RGDNCBI36
CeleraX153,825,868 - 153,826,132RGD
Cytogenetic MapXq28UniSTS
REN89564  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,665,069 - 153,665,335UniSTSGRCh37
Build 36X153,318,263 - 153,318,529RGDNCBI36
CeleraX153,826,115 - 153,826,380RGD
Cytogenetic MapXq28UniSTS
REN89565  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,665,310 - 153,665,561UniSTSGRCh37
Build 36X153,318,504 - 153,318,755RGDNCBI36
CeleraX153,826,355 - 153,826,606RGD
Cytogenetic MapXq28UniSTS
REN89566  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,665,495 - 153,665,745UniSTSGRCh37
Build 36X153,318,689 - 153,318,939RGDNCBI36
CeleraX153,826,540 - 153,826,790RGD
Cytogenetic MapXq28UniSTS
REN89567  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,665,601 - 153,665,831UniSTSGRCh37
Build 36X153,318,795 - 153,319,025RGDNCBI36
CeleraX153,826,646 - 153,826,876RGD
Cytogenetic MapXq28UniSTS
REN89568  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,665,813 - 153,666,062UniSTSGRCh37
Build 36X153,319,007 - 153,319,256RGDNCBI36
CeleraX153,826,858 - 153,827,107RGD
Cytogenetic MapXq28UniSTS
REN89569  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,666,042 - 153,666,283UniSTSGRCh37
Build 36X153,319,236 - 153,319,477RGDNCBI36
CeleraX153,827,087 - 153,827,328RGD
Cytogenetic MapXq28UniSTS
REN89570  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,666,280 - 153,666,526UniSTSGRCh37
Build 36X153,319,474 - 153,319,720RGDNCBI36
CeleraX153,827,325 - 153,827,571RGD
Cytogenetic MapXq28UniSTS
HuRefX142,243,930 - 142,244,176UniSTS
REN89571  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,666,503 - 153,666,745UniSTSGRCh37
Build 36X153,319,697 - 153,319,939RGDNCBI36
CeleraX153,827,548 - 153,827,790RGD
Cytogenetic MapXq28UniSTS
HuRefX142,244,153 - 142,244,395UniSTS
REN89572  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,666,724 - 153,666,978UniSTSGRCh37
Build 36X153,319,918 - 153,320,172RGDNCBI36
CeleraX153,827,769 - 153,828,023RGD
Cytogenetic MapXq28UniSTS
HuRefX142,244,374 - 142,244,628UniSTS
REN89573  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,666,955 - 153,667,197UniSTSGRCh37
Build 36X153,320,149 - 153,320,391RGDNCBI36
CeleraX153,828,000 - 153,828,242RGD
Cytogenetic MapXq28UniSTS
HuRefX142,244,605 - 142,244,847UniSTS
REN89574  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,667,185 - 153,667,409UniSTSGRCh37
Build 36X153,320,379 - 153,320,603RGDNCBI36
CeleraX153,828,230 - 153,828,454RGD
Cytogenetic MapXq28UniSTS
HuRefX142,244,835 - 142,245,059UniSTS
REN89575  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,667,396 - 153,667,642UniSTSGRCh37
Build 36X153,320,590 - 153,320,836RGDNCBI36
CeleraX153,828,441 - 153,828,687RGD
Cytogenetic MapXq28UniSTS
HuRefX142,245,046 - 142,245,292UniSTS
REN89576  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,667,610 - 153,667,869UniSTSGRCh37
Build 36X153,320,804 - 153,321,063RGDNCBI36
CeleraX153,828,655 - 153,828,914RGD
Cytogenetic MapXq28UniSTS
HuRefX142,245,260 - 142,245,519UniSTS
REN89577  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,667,846 - 153,668,104UniSTSGRCh37
Build 36X153,321,040 - 153,321,298RGDNCBI36
CeleraX153,828,891 - 153,829,148RGD
Cytogenetic MapXq28UniSTS
HuRefX142,245,496 - 142,245,753UniSTS
REN89578  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,668,084 - 153,668,311UniSTSGRCh37
Build 36X153,321,278 - 153,321,505RGDNCBI36
CeleraX153,829,128 - 153,829,355RGD
Cytogenetic MapXq28UniSTS
HuRefX142,245,733 - 142,245,960UniSTS
REN89579  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,668,284 - 153,668,555UniSTSGRCh37
Build 36X153,321,478 - 153,321,749RGDNCBI36
CeleraX153,829,328 - 153,829,599RGD
Cytogenetic MapXq28UniSTS
HuRefX142,245,933 - 142,246,204UniSTS
REN89580  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,668,537 - 153,668,780UniSTSGRCh37
Build 36X153,321,731 - 153,321,974RGDNCBI36
CeleraX153,829,581 - 153,829,824RGD
Cytogenetic MapXq28UniSTS
HuRefX142,246,186 - 142,246,429UniSTS
REN89581  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,668,754 - 153,668,991UniSTSGRCh37
Build 36X153,321,948 - 153,322,185RGDNCBI36
CeleraX153,829,798 - 153,830,035RGD
Cytogenetic MapXq28UniSTS
HuRefX142,246,403 - 142,246,640UniSTS
REN89582  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,668,963 - 153,669,210UniSTSGRCh37
Build 36X153,322,157 - 153,322,404RGDNCBI36
CeleraX153,830,007 - 153,830,254RGD
Cytogenetic MapXq28UniSTS
HuRefX142,246,612 - 142,246,859UniSTS
REN89583  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,669,182 - 153,669,407UniSTSGRCh37
Build 36X153,322,376 - 153,322,601RGDNCBI36
CeleraX153,830,226 - 153,830,451RGD
Cytogenetic MapXq28UniSTS
HuRefX142,246,831 - 142,247,056UniSTS
REN89584  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,669,388 - 153,669,620UniSTSGRCh37
Build 36X153,322,582 - 153,322,814RGDNCBI36
CeleraX153,830,432 - 153,830,664RGD
Cytogenetic MapXq28UniSTS
HuRefX142,247,037 - 142,247,269UniSTS
REN89585  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,669,603 - 153,669,869UniSTSGRCh37
Build 36X153,322,797 - 153,323,063RGDNCBI36
CeleraX153,830,647 - 153,830,913RGD
Cytogenetic MapXq28UniSTS
HuRefX142,247,252 - 142,247,518UniSTS
REN89586  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,669,859 - 153,670,113UniSTSGRCh37
Build 36X153,323,053 - 153,323,307RGDNCBI36
CeleraX153,830,903 - 153,831,157RGD
Cytogenetic MapXq28UniSTS
HuRefX142,247,508 - 142,247,762UniSTS
REN89587  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,670,092 - 153,670,347UniSTSGRCh37
Build 36X153,323,286 - 153,323,541RGDNCBI36
CeleraX153,831,136 - 153,831,391RGD
Cytogenetic MapXq28UniSTS
HuRefX142,247,741 - 142,247,996UniSTS
REN89588  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,670,295 - 153,670,550UniSTSGRCh37
Build 36X153,323,489 - 153,323,744RGDNCBI36
CeleraX153,831,339 - 153,831,594RGD
Cytogenetic MapXq28UniSTS
HuRefX142,247,944 - 142,248,199UniSTS
REN89589  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,670,547 - 153,670,780UniSTSGRCh37
Build 36X153,323,741 - 153,323,974RGDNCBI36
CeleraX153,831,591 - 153,831,824RGD
Cytogenetic MapXq28UniSTS
HuRefX142,248,196 - 142,248,429UniSTS
REN89590  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,670,765 - 153,671,020UniSTSGRCh37
Build 36X153,323,959 - 153,324,214RGDNCBI36
CeleraX153,831,809 - 153,832,064RGD
Cytogenetic MapXq28UniSTS
HuRefX142,248,414 - 142,248,669UniSTS
REN89591  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,670,998 - 153,671,246UniSTSGRCh37
Build 36X153,324,192 - 153,324,440RGDNCBI36
CeleraX153,832,042 - 153,832,290RGD
Cytogenetic MapXq28UniSTS
HuRefX142,248,647 - 142,248,895UniSTS
REN89592  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,671,223 - 153,671,464UniSTSGRCh37
Build 36X153,324,417 - 153,324,658RGDNCBI36
CeleraX153,832,267 - 153,832,508RGD
Cytogenetic MapXq28UniSTS
HuRefX142,248,872 - 142,249,113UniSTS
REN89593  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,671,441 - 153,671,668UniSTSGRCh37
Build 36X153,324,635 - 153,324,862RGDNCBI36
CeleraX153,832,485 - 153,832,712RGD
Cytogenetic MapXq28UniSTS
HuRefX142,249,090 - 142,249,317UniSTS
REN89594  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,671,633 - 153,671,907UniSTSGRCh37
Build 36X153,324,827 - 153,325,101RGDNCBI36
CeleraX153,832,677 - 153,832,951RGD
Cytogenetic MapXq28UniSTS
HuRefX142,249,282 - 142,249,556UniSTS
REN89595  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,671,905 - 153,672,173UniSTSGRCh37
Build 36X153,325,099 - 153,325,367RGDNCBI36
CeleraX153,832,949 - 153,833,217RGD
Cytogenetic MapXq28UniSTS
HuRefX142,249,554 - 142,249,822UniSTS
REN89596  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,672,060 - 153,672,285UniSTSGRCh37
Build 36X153,325,254 - 153,325,479RGDNCBI36
CeleraX153,833,104 - 153,833,329RGD
Cytogenetic MapXq28UniSTS
HuRefX142,249,709 - 142,249,934UniSTS
stSG604031  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,640,269 - 153,641,444UniSTSGRCh37
Build 36X153,293,463 - 153,294,638RGDNCBI36
CeleraX153,801,326 - 153,802,501RGD
HuRefX142,217,658 - 142,218,834UniSTS
stSG604033  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,642,452 - 153,643,846UniSTSGRCh37
Build 36X153,295,646 - 153,297,040RGDNCBI36
CeleraX153,803,509 - 153,804,903RGD
HuRefX142,219,841 - 142,221,235UniSTS
stSG604034  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,644,260 - 153,645,736UniSTSGRCh37
Build 36X153,297,454 - 153,298,930RGDNCBI36
CeleraX153,805,314 - 153,806,790RGD
HuRefX142,221,647 - 142,223,268UniSTS
stSG604035  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,645,732 - 153,646,891UniSTSGRCh37
Build 36X153,298,926 - 153,300,085RGDNCBI36
CeleraX153,806,786 - 153,807,945RGD
HuRefX142,223,264 - 142,224,423UniSTS
stSG604036  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,646,872 - 153,648,105UniSTSGRCh37
Build 36X153,300,066 - 153,301,299RGDNCBI36
CeleraX153,807,926 - 153,809,159RGD
HuRefX142,224,404 - 142,225,637UniSTS
stSG604037  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,648,086 - 153,649,572UniSTSGRCh37
Build 36X153,301,280 - 153,302,766RGDNCBI36
CeleraX153,809,140 - 153,810,626RGD
HuRefX142,225,618 - 142,227,104UniSTS
stSG604044  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,659,982 - 153,660,984UniSTSGRCh37
Build 36X153,313,176 - 153,314,178RGDNCBI36
CeleraX153,821,028 - 153,822,030RGD
HuRefX142,237,568 - 142,238,570UniSTS
stSG604045  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,660,980 - 153,662,133UniSTSGRCh37
Build 36X153,314,174 - 153,315,327RGDNCBI36
CeleraX153,822,026 - 153,823,179RGD
HuRefX142,238,566 - 142,239,719UniSTS
stSG604046  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,662,114 - 153,663,498UniSTSGRCh37
Build 36X153,315,308 - 153,316,692RGDNCBI36
CeleraX153,823,160 - 153,824,544RGD
HuRefX142,239,700 - 142,241,084UniSTS
stSG604051  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,668,629 - 153,669,826UniSTSGRCh37
Build 36X153,321,823 - 153,323,020RGDNCBI36
CeleraX153,829,673 - 153,830,870RGD
Cytogenetic MapXq28UniSTS
HuRefX142,246,278 - 142,247,475UniSTS
stSG604052  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,669,807 - 153,670,988UniSTSGRCh37
Build 36X153,323,001 - 153,324,182RGDNCBI36
CeleraX153,830,851 - 153,832,032RGD
Cytogenetic MapXq28UniSTS
HuRefX142,247,456 - 142,248,637UniSTS
stSG604053  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,670,971 - 153,671,974UniSTSGRCh37
Build 36X153,324,165 - 153,325,168RGDNCBI36
CeleraX153,832,015 - 153,833,018RGD
HuRefX142,248,620 - 142,249,623UniSTS
TAZ__5218  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,649,435 - 153,650,228UniSTSGRCh37
Build 36X153,302,629 - 153,303,422RGDNCBI36
CeleraX153,810,489 - 153,811,282RGD
HuRefX142,226,967 - 142,227,760UniSTS
GDI1__6799  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,671,175 - 153,671,983UniSTSGRCh37
Build 36X153,324,369 - 153,325,177RGDNCBI36
CeleraX153,832,219 - 153,833,027RGD
HuRefX142,248,824 - 142,249,632UniSTS
DXS7010E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,649,749 - 153,649,900UniSTSGRCh37
Build 36X153,302,943 - 153,303,094RGDNCBI36
CeleraX153,810,803 - 153,810,954RGD
Cytogenetic MapXq28UniSTS
HuRefX142,227,281 - 142,227,432UniSTS
GeneMap99-GB4 RH MapX350.95UniSTS
RH77733  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,671,663 - 153,671,806UniSTSGRCh37
Build 36X153,324,857 - 153,325,000RGDNCBI36
CeleraX153,832,707 - 153,832,850RGD
Cytogenetic MapXq28UniSTS
HuRefX142,249,312 - 142,249,455UniSTS
GeneMap99-GB4 RH MapX350.95UniSTS
RH68908  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,664,432 - 153,664,612UniSTSGRCh37
Build 36X153,317,626 - 153,317,806RGDNCBI36
CeleraX153,825,478 - 153,825,658RGD
Cytogenetic MapXq28UniSTS
HuRefX142,242,018 - 142,242,198UniSTS
GeneMap99-GB4 RH MapX350.95UniSTS
GDI1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,670,900 - 153,670,995UniSTSGRCh37
Build 36X153,324,094 - 153,324,189RGDNCBI36
CeleraX153,831,944 - 153,832,039RGD
HuRefX142,248,549 - 142,248,644UniSTS
ATP6AP1__4395  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,664,212 - 153,664,850UniSTSGRCh37
Build 36X153,317,406 - 153,318,044RGDNCBI36
CeleraX153,825,258 - 153,825,896RGD
G54832  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,645,945 - 153,646,878UniSTSGRCh37
CeleraX153,806,999 - 153,807,932UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,223,477 - 142,224,410UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5556
Count of miRNA genes:1206
Interacting mature miRNAs:1584
Transcripts:ENST00000415109, ENST00000434049, ENST00000445564, ENST00000447750, ENST00000460984, ENST00000465640, ENST00000468483, ENST00000471972, ENST00000475976, ENST00000476540, ENST00000481304, ENST00000485143, ENST00000489589, ENST00000491154
Prediction methods:Microtar, Miranda, Pita, Pita,Microtar, Pita,Targetscan, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


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 1
Medium 2432 2974 1717 616 1936 458 4355 2190 3708 418 1446 1608 171 1204 2788 4
Low 3 15 9 8 14 7 1 7 25 1 12 5 4 1 1 2
Below cutoff 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB101741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC244090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF400433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX936385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D45021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA133083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB005169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF212243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF212248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L05086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L44140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U14623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X74608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X79353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X79354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X87194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000415109   ⟹   ENSP00000396215
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,437,166 - 154,439,052 (+)Ensembl
RefSeq Acc Id: ENST00000434049   ⟹   ENSP00000416195
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,437,164 - 154,440,189 (+)Ensembl
RefSeq Acc Id: ENST00000445564   ⟹   ENSP00000394752
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,437,154 - 154,439,972 (+)Ensembl
RefSeq Acc Id: ENST00000447750   ⟹   ENSP00000394071
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,437,154 - 154,443,467 (+)Ensembl
RefSeq Acc Id: ENST00000460984
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,442,049 - 154,442,718 (+)Ensembl
RefSeq Acc Id: ENST00000465640
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,441,766 - 154,442,728 (+)Ensembl
RefSeq Acc Id: ENST00000468483
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,440,524 - 154,443,465 (+)Ensembl
RefSeq Acc Id: ENST00000471972
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,440,268 - 154,441,390 (+)Ensembl
RefSeq Acc Id: ENST00000475976
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,437,154 - 154,439,251 (+)Ensembl
RefSeq Acc Id: ENST00000476540
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,440,651 - 154,442,098 (+)Ensembl
RefSeq Acc Id: ENST00000481304
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,437,189 - 154,440,500 (+)Ensembl
RefSeq Acc Id: ENST00000485143
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,437,660 - 154,439,093 (+)Ensembl
RefSeq Acc Id: ENST00000489589
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,439,993 - 154,442,242 (+)Ensembl
RefSeq Acc Id: ENST00000491154
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,438,006 - 154,443,465 (+)Ensembl
RefSeq Acc Id: ENST00000630693   ⟹   ENSP00000486715
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,436,913 - 154,439,765 (+)Ensembl
RefSeq Acc Id: NM_001493   ⟹   NP_001484
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,437,154 - 154,443,467 (+)NCBI
GRCh37X153,665,259 - 153,671,814 (+)ENTREZGENE
Build 36X153,318,715 - 153,325,008 (+)NCBI Archive
HuRefX142,217,606 - 142,249,463 (+)ENTREZGENE
CHM1_1X153,576,897 - 153,583,451 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001484 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA21558 (Get FASTA)   NCBI Sequence Viewer  
  AAA92648 (Get FASTA)   NCBI Sequence Viewer  
  AAC15851 (Get FASTA)   NCBI Sequence Viewer  
  AAH00317 (Get FASTA)   NCBI Sequence Viewer  
  AAH12201 (Get FASTA)   NCBI Sequence Viewer  
  AAK92482 (Get FASTA)   NCBI Sequence Viewer  
  AAV38687 (Get FASTA)   NCBI Sequence Viewer  
  AEE61218 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33549 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33550 (Get FASTA)   NCBI Sequence Viewer  
  BAA08078 (Get FASTA)   NCBI Sequence Viewer  
  BAC80330 (Get FASTA)   NCBI Sequence Viewer  
  BAC80331 (Get FASTA)   NCBI Sequence Viewer  
  BAC80332 (Get FASTA)   NCBI Sequence Viewer  
  BAC80333 (Get FASTA)   NCBI Sequence Viewer  
  BAC80334 (Get FASTA)   NCBI Sequence Viewer  
  BAC80335 (Get FASTA)   NCBI Sequence Viewer  
  BAC80336 (Get FASTA)   NCBI Sequence Viewer  
  BAC80337 (Get FASTA)   NCBI Sequence Viewer  
  BAC80338 (Get FASTA)   NCBI Sequence Viewer  
  BAC80339 (Get FASTA)   NCBI Sequence Viewer  
  BAC80340 (Get FASTA)   NCBI Sequence Viewer  
  BAC80341 (Get FASTA)   NCBI Sequence Viewer  
  BAC80342 (Get FASTA)   NCBI Sequence Viewer  
  BAC80343 (Get FASTA)   NCBI Sequence Viewer  
  BAC80344 (Get FASTA)   NCBI Sequence Viewer  
  BAC80345 (Get FASTA)   NCBI Sequence Viewer  
  BAC80346 (Get FASTA)   NCBI Sequence Viewer  
  BAC80347 (Get FASTA)   NCBI Sequence Viewer  
  BAC80348 (Get FASTA)   NCBI Sequence Viewer  
  BAC80349 (Get FASTA)   NCBI Sequence Viewer  
  BAC80360 (Get FASTA)   NCBI Sequence Viewer  
  BAC80361 (Get FASTA)   NCBI Sequence Viewer  
  BAC80362 (Get FASTA)   NCBI Sequence Viewer  
  BAC80363 (Get FASTA)   NCBI Sequence Viewer  
  BAC80364 (Get FASTA)   NCBI Sequence Viewer  
  BAC80365 (Get FASTA)   NCBI Sequence Viewer  
  BAC80366 (Get FASTA)   NCBI Sequence Viewer  
  BAC80367 (Get FASTA)   NCBI Sequence Viewer  
  BAC80368 (Get FASTA)   NCBI Sequence Viewer  
  BAC80369 (Get FASTA)   NCBI Sequence Viewer  
  BAC80370 (Get FASTA)   NCBI Sequence Viewer  
  BAC80371 (Get FASTA)   NCBI Sequence Viewer  
  BAC80372 (Get FASTA)   NCBI Sequence Viewer  
  BAC80373 (Get FASTA)   NCBI Sequence Viewer  
  BAC80374 (Get FASTA)   NCBI Sequence Viewer  
  BAC80375 (Get FASTA)   NCBI Sequence Viewer  
  BAC80376 (Get FASTA)   NCBI Sequence Viewer  
  BAC80377 (Get FASTA)   NCBI Sequence Viewer  
  BAC80378 (Get FASTA)   NCBI Sequence Viewer  
  BAC80379 (Get FASTA)   NCBI Sequence Viewer  
  BAC80390 (Get FASTA)   NCBI Sequence Viewer  
  BAC80391 (Get FASTA)   NCBI Sequence Viewer  
  BAC80392 (Get FASTA)   NCBI Sequence Viewer  
  BAC80393 (Get FASTA)   NCBI Sequence Viewer  
  BAC80394 (Get FASTA)   NCBI Sequence Viewer  
  BAC80395 (Get FASTA)   NCBI Sequence Viewer  
  BAC80396 (Get FASTA)   NCBI Sequence Viewer  
  BAC80397 (Get FASTA)   NCBI Sequence Viewer  
  BAC80398 (Get FASTA)   NCBI Sequence Viewer  
  BAC80399 (Get FASTA)   NCBI Sequence Viewer  
  BAC80400 (Get FASTA)   NCBI Sequence Viewer  
  BAC80401 (Get FASTA)   NCBI Sequence Viewer  
  BAC80402 (Get FASTA)   NCBI Sequence Viewer  
  BAC80403 (Get FASTA)   NCBI Sequence Viewer  
  BAC80404 (Get FASTA)   NCBI Sequence Viewer  
  BAC80405 (Get FASTA)   NCBI Sequence Viewer  
  BAC80406 (Get FASTA)   NCBI Sequence Viewer  
  BAC80407 (Get FASTA)   NCBI Sequence Viewer  
  BAC80408 (Get FASTA)   NCBI Sequence Viewer  
  BAC80409 (Get FASTA)   NCBI Sequence Viewer  
  BAC80420 (Get FASTA)   NCBI Sequence Viewer  
  BAC80421 (Get FASTA)   NCBI Sequence Viewer  
  BAC80422 (Get FASTA)   NCBI Sequence Viewer  
  BAC80423 (Get FASTA)   NCBI Sequence Viewer  
  BAC80424 (Get FASTA)   NCBI Sequence Viewer  
  BAC80425 (Get FASTA)   NCBI Sequence Viewer  
  BAC80426 (Get FASTA)   NCBI Sequence Viewer  
  BAC80427 (Get FASTA)   NCBI Sequence Viewer  
  BAC80428 (Get FASTA)   NCBI Sequence Viewer  
  BAC80429 (Get FASTA)   NCBI Sequence Viewer  
  BAC80430 (Get FASTA)   NCBI Sequence Viewer  
  BAC80431 (Get FASTA)   NCBI Sequence Viewer  
  BAC80432 (Get FASTA)   NCBI Sequence Viewer  
  BAC80433 (Get FASTA)   NCBI Sequence Viewer  
  BAC80434 (Get FASTA)   NCBI Sequence Viewer  
  BAC80435 (Get FASTA)   NCBI Sequence Viewer  
  BAC80436 (Get FASTA)   NCBI Sequence Viewer  
  BAC80437 (Get FASTA)   NCBI Sequence Viewer  
  BAC80438 (Get FASTA)   NCBI Sequence Viewer  
  BAC80439 (Get FASTA)   NCBI Sequence Viewer  
  BAC81116 (Get FASTA)   NCBI Sequence Viewer  
  BAG57985 (Get FASTA)   NCBI Sequence Viewer  
  BAG58286 (Get FASTA)   NCBI Sequence Viewer  
  BAG64332 (Get FASTA)   NCBI Sequence Viewer  
  CAA55908 (Get FASTA)   NCBI Sequence Viewer  
  CAA55909 (Get FASTA)   NCBI Sequence Viewer  
  CAG47054 (Get FASTA)   NCBI Sequence Viewer  
  CAG47072 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43142 (Get FASTA)   NCBI Sequence Viewer  
  EAW72709 (Get FASTA)   NCBI Sequence Viewer  
  EAW72710 (Get FASTA)   NCBI Sequence Viewer  
  EAW72711 (Get FASTA)   NCBI Sequence Viewer  
  P31150 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001484   ⟸   NM_001493
- UniProtKB: P31150 (UniProtKB/Swiss-Prot),   A0A0S2Z3X8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000396215   ⟸   ENST00000415109
RefSeq Acc Id: ENSP00000394752   ⟸   ENST00000445564
RefSeq Acc Id: ENSP00000394071   ⟸   ENST00000447750
RefSeq Acc Id: ENSP00000416195   ⟸   ENST00000434049
RefSeq Acc Id: ENSP00000486715   ⟸   ENST00000630693

Promoters
RGD ID:6808874
Promoter ID:HG_KWN:68653
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001493,   OTTHUMT00000144416,   OTTHUMT00000144418,   OTTHUMT00000144419,   OTTHUMT00000286447,   OTTHUMT00000286448,   OTTHUMT00000286449,   OTTHUMT00000316572
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,317,601 - 153,320,167 (+)MPROMDB
RGD ID:6853254
Promoter ID:EP74448
Type:initiation region
Name:HS_GDI1
Description:GDP dissociation inhibitor 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,318,711 - 153,318,771EPD
RGD ID:6808876
Promoter ID:HG_KWN:68654
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:OTTHUMT00000081650,   OTTHUMT00000144417,   OTTHUMT00000144420,   OTTHUMT00000144421,   OTTHUMT00000316573,   UC004FLJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,322,646 - 153,323,167 (+)MPROMDB
RGD ID:13628622
Promoter ID:EPDNEW_H29549
Type:initiation region
Name:GDI1_2
Description:GDP dissociation inhibitor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29550  EPDNEW_H29551  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,436,976 - 154,437,036EPDNEW
RGD ID:13628624
Promoter ID:EPDNEW_H29550
Type:initiation region
Name:GDI1_1
Description:GDP dissociation inhibitor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29549  EPDNEW_H29551  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,437,165 - 154,437,225EPDNEW
RGD ID:13628626
Promoter ID:EPDNEW_H29551
Type:initiation region
Name:GDI1_3
Description:GDP dissociation inhibitor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29549  EPDNEW_H29550  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,440,485 - 154,440,545EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001493.3(GDI1):c.1184_1185AG[1] (p.Ser396fs) microsatellite X-Linked Mental Retardation 41 [RCV000022824] ChrX:154442420..154442421 [GRCh38]
ChrX:153670767..153670768 [GRCh37]
ChrX:Xq28
pathogenic
NM_001493.3(GDI1):c.275T>C (p.Leu92Pro) single nucleotide variant X-Linked Mental Retardation 41 [RCV000012392] ChrX:154439027 [GRCh38]
ChrX:153667373 [GRCh37]
ChrX:Xq28
pathogenic
NM_001493.3(GDI1):c.208C>T (p.Arg70Ter) single nucleotide variant X-Linked Mental Retardation 41 [RCV000012393] ChrX:154438819 [GRCh38]
ChrX:153667165 [GRCh37]
ChrX:Xq28
pathogenic
NM_001493.3(GDI1):c.1268G>C (p.Arg423Pro) single nucleotide variant X-Linked Mental Retardation 41 [RCV000012394] ChrX:154442596 [GRCh38]
ChrX:153670943 [GRCh37]
ChrX:Xq28
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
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 Xq28(chrX:154394598-154554969)x1 copy number loss See cases [RCV000051760] ChrX:154394598..154554969 [GRCh38]
ChrX:153622940..153783184 [GRCh37]
ChrX:153276134..153436378 [NCBI36]
ChrX:Xq28
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:153932045-155611794)x3 copy number gain See cases [RCV000052529] ChrX:153932045..155611794 [GRCh38]
ChrX:152850692..154494649 [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 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 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:154336596-154642063)x2 copy number gain See cases [RCV000054320] ChrX:154336596..154642063 [GRCh38]
ChrX:153564946..153870337 [GRCh37]
ChrX:153218140..153523531 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq28(chrX:154348522-154594454)x2 copy number gain See cases [RCV000054321] ChrX:154348522..154594454 [GRCh38]
ChrX:153576890..153822717 [GRCh37]
ChrX:153230084..153475911 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq28(chrX:154394598-154626056)x2 copy number gain See cases [RCV000054322] ChrX:154394598..154626056 [GRCh38]
ChrX:153622940..153854307 [GRCh37]
ChrX:153276134..153507501 [NCBI36]
ChrX:Xq28
uncertain significance
NM_001493.3(GDI1):c.154-3C>T single nucleotide variant History of neurodevelopmental disorder [RCV000716934]|not provided [RCV000949637]|not specified [RCV000117137] ChrX:154438762 [GRCh38]
ChrX:153667108 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity
NM_001493.3(GDI1):c.219T>C (p.Asn73=) single nucleotide variant History of neurodevelopmental disorder [RCV000715406]|not specified [RCV000117138] ChrX:154438830 [GRCh38]
ChrX:153667176 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001493.3(GDI1):c.324C>T (p.Ser108=) single nucleotide variant History of neurodevelopmental disorder [RCV000716973]|not provided [RCV000950885]|not specified [RCV000117139] ChrX:154439076 [GRCh38]
ChrX:153667422 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_001493.3(GDI1):c.1167C>T (p.Pro389=) single nucleotide variant not provided [RCV000173742] ChrX:154442404 [GRCh38]
ChrX:153670751 [GRCh37]
ChrX:Xq28
conflicting interpretations of pathogenicity|uncertain significance
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:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 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 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 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 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: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 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 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 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 Xq28(chrX:154348522-154770053)x2 copy number gain See cases [RCV000140492] ChrX:154348522..154770053 [GRCh38]
ChrX:153576890..153998328 [GRCh37]
ChrX:153230084..153651522 [NCBI36]
ChrX:Xq28
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 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: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 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 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 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 Xq13.3-28(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
NM_001493.3(GDI1):c.696C>T (p.Gly232=) single nucleotide variant not provided [RCV000930874]|not specified [RCV000192523] ChrX:154440483 [GRCh38]
ChrX:153668830 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_001493.3(GDI1):c.1104G>A (p.Pro368=) single nucleotide variant not provided [RCV000180572] ChrX:154442223 [GRCh38]
ChrX:153670570 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_001493.3(GDI1):c.226C>G (p.Leu76Val) single nucleotide variant not provided [RCV000514221] ChrX:154438837 [GRCh38]
ChrX:153667183 [GRCh37]
ChrX:Xq28
uncertain significance
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 Xq28(chrX:153627408-154089925)x2 copy number gain See cases [RCV000240046] ChrX:153627408..154089925 [GRCh37]
ChrX:Xq28
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:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
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:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..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 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
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:168546-155196888)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 Xq28(chrX:150253008-155233731)x1 copy number loss See cases [RCV000446761] ChrX:150253008..155233731 [GRCh37]
ChrX:Xq28
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:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001493.3(GDI1):c.46-11C>A single nucleotide variant not provided [RCV000423051] ChrX:154438512 [GRCh38]
ChrX:153666858 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_001493.3(GDI1):c.309G>A (p.Lys103=) single nucleotide variant not specified [RCV000419604] ChrX:154439061 [GRCh38]
ChrX:153667407 [GRCh37]
ChrX:Xq28
likely benign
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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..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 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:70297-155246585)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_001493.3(GDI1):c.194C>T (p.Ser65Leu) single nucleotide variant not provided [RCV000482246] ChrX:154438805 [GRCh38]
ChrX:153667151 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001493.3(GDI1):c.1283C>T (p.Ala428Val) single nucleotide variant X-Linked Mental Retardation 41 [RCV001197554]|not provided [RCV000478709] ChrX:154442611 [GRCh38]
ChrX:153670958 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001493.3(GDI1):c.1191+12G>A single nucleotide variant not specified [RCV000500914] ChrX:154442440 [GRCh38]
ChrX:153670787 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 copy number gain See cases [RCV000510478] ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28
pathogenic
NM_001493.3(GDI1):c.804G>T (p.Val268=) single nucleotide variant not specified [RCV000499982] ChrX:154441180 [GRCh38]
ChrX:153669527 [GRCh37]
ChrX:Xq28
likely benign
NM_001493.3(GDI1):c.338G>A (p.Gly113Glu) single nucleotide variant not specified [RCV000499956] ChrX:154439090 [GRCh38]
ChrX:153667436 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001493.3(GDI1):c.473T>C (p.Phe158Ser) single nucleotide variant not provided [RCV000498377] ChrX:154440025 [GRCh38]
ChrX:153668372 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001493.3(GDI1):c.587+6G>A single nucleotide variant not specified [RCV000503072] ChrX:154440145 [GRCh38]
ChrX:153668492 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153097608-153681801)x2 copy number gain See cases [RCV000510362] ChrX:153097608..153681801 [GRCh37]
ChrX:Xq28
pathogenic
NM_001493.3(GDI1):c.193T>A (p.Ser65Thr) single nucleotide variant not specified [RCV000503006] ChrX:154438804 [GRCh38]
ChrX:153667150 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
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:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [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
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001493.3(GDI1):c.412C>T (p.Arg138Trp) single nucleotide variant Inborn genetic diseases [RCV000624361] ChrX:154439964 [GRCh38]
ChrX:153668311 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001493.3(GDI1):c.819+1G>A single nucleotide variant Inborn genetic diseases [RCV000624228] ChrX:154441196 [GRCh38]
ChrX:153669543 [GRCh37]
ChrX:Xq28
likely pathogenic
NC_000023.10:g.(?_153295726)_(153786885_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000645139] ChrX:153295726..153786885 [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
NM_001493.3(GDI1):c.117C>T (p.Tyr39=) single nucleotide variant not provided [RCV000512794] ChrX:154438594 [GRCh38]
ChrX:153666940 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq28(chrX:153138672-153665655) copy number gain Microcytic anemia [RCV000626549] ChrX:153138672..153665655 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153576750-154563104)x1 copy number loss See cases [RCV000663390] ChrX:153576750..154563104 [GRCh37]
ChrX:Xq28
pathogenic
NM_001493.3(GDI1):c.570G>A (p.Ala190=) single nucleotide variant History of neurodevelopmental disorder [RCV000715918]|not provided [RCV000903996] ChrX:154440122 [GRCh38]
ChrX:153668469 [GRCh37]
ChrX:Xq28
benign
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 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq28(chrX:153581543-153858492)x2 copy number gain not provided [RCV000684413] ChrX:153581543..153858492 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153621005-153868484)x4 copy number gain not provided [RCV000684414] ChrX:153621005..153868484 [GRCh37]
ChrX:Xq28
uncertain significance
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 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:153560741-153761134)x2 copy number gain not provided [RCV000684744] ChrX:153560741..153761134 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153560741-153858492)x2,3 copy number gain not provided [RCV000684745] ChrX:153560741..153858492 [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
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
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
NM_001493.3(GDI1):c.909C>T (p.Ile303=) single nucleotide variant History of neurodevelopmental disorder [RCV000718720] ChrX:154441712 [GRCh38]
ChrX:153670059 [GRCh37]
ChrX:Xq28
likely benign
NM_001493.3(GDI1):c.383C>G (p.Ala128Gly) single nucleotide variant History of neurodevelopmental disorder [RCV000718130] ChrX:154439135 [GRCh38]
ChrX:153667481 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001493.3(GDI1):c.865G>C (p.Asp289His) single nucleotide variant History of neurodevelopmental disorder [RCV000719697] ChrX:154441668 [GRCh38]
ChrX:153670015 [GRCh37]
ChrX:Xq28
uncertain significance
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 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:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_001493.3(GDI1):c.992-4C>T single nucleotide variant not provided [RCV000924766] ChrX:154442107 [GRCh38]
ChrX:153670454 [GRCh37]
ChrX:Xq28
benign
NM_001493.3(GDI1):c.450C>T (p.Phe150=) single nucleotide variant not provided [RCV000901866] ChrX:154440002 [GRCh38]
ChrX:153668349 [GRCh37]
ChrX:Xq28
benign
NM_001493.3(GDI1):c.936C>T (p.Asn312=) single nucleotide variant not provided [RCV000898675] ChrX:154441739 [GRCh38]
ChrX:153670086 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_001493.3(GDI1):c.1237A>G (p.Thr413Ala) single nucleotide variant not provided [RCV000782056] ChrX:154442565 [GRCh38]
ChrX:153670912 [GRCh37]
ChrX:Xq28
likely benign
NM_001493.3(GDI1):c.588C>T (p.Asp196=) single nucleotide variant not provided [RCV000976071] ChrX:154440375 [GRCh38]
ChrX:153668722 [GRCh37]
ChrX:Xq28
benign
NM_001493.3(GDI1):c.645C>T (p.Ser215=) single nucleotide variant not provided [RCV000930258] ChrX:154440432 [GRCh38]
ChrX:153668779 [GRCh37]
ChrX:Xq28
likely benign
NC_000023.10:g.(?_152954020)_(154096327_?)del deletion Adrenoleukodystrophy [RCV000815921] ChrX:152954020..154096327 [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 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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:153609873-153815499)x3 copy number gain not provided [RCV000847592] ChrX:153609873..153815499 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
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:153556428-153868487)x2 copy number gain not provided [RCV000845970] ChrX:153556428..153868487 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153566612-153731506)x2 copy number gain not provided [RCV000847027] ChrX:153566612..153731506 [GRCh37]
ChrX:Xq28
uncertain significance
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 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_001493.3(GDI1):c.1280C>T (p.Thr427Met) single nucleotide variant not provided [RCV000930319] ChrX:154442608 [GRCh38]
ChrX:153670955 [GRCh37]
ChrX:Xq28
benign
NM_001493.3(GDI1):c.771C>T (p.Asp257=) single nucleotide variant not provided [RCV000917987] ChrX:154441147 [GRCh38]
ChrX:153669494 [GRCh37]
ChrX:Xq28
benign
NM_001493.3(GDI1):c.102C>T (p.Asp34=) single nucleotide variant not provided [RCV000933501] ChrX:154438579 [GRCh38]
ChrX:153666925 [GRCh37]
ChrX:Xq28
likely benign
NM_001493.3(GDI1):c.1060_1064del (p.Ser354fs) deletion X-Linked Mental Retardation 41 [RCV001252003] ChrX:154442178..154442182 [GRCh38]
ChrX:153670525..153670529 [GRCh37]
ChrX:Xq28
pathogenic
NM_001493.3(GDI1):c.471C>T (p.Thr157=) single nucleotide variant not provided [RCV001200557] ChrX:154440023 [GRCh38]
ChrX:153668370 [GRCh37]
ChrX:Xq28
likely 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
NM_001493.3(GDI1):c.788del (p.Gly263fs) deletion X-Linked Mental Retardation 41 [RCV001253206] ChrX:154441163 [GRCh38]
ChrX:153669510 [GRCh37]
ChrX:Xq28
likely 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
NM_001493.3(GDI1):c.1173_1174insACATGAT (p.Asp392delinsThrTer) insertion Intellectual disability [RCV001255375]|X-Linked Mental Retardation 41 [RCV001253739] ChrX:154442406..154442407 [GRCh38]
ChrX:153670753..153670754 [GRCh37]
ChrX:Xq28
pathogenic
NM_001493.3(GDI1):c.1192-5T>C single nucleotide variant not specified [RCV001255480] ChrX:154442515 [GRCh38]
ChrX:153670862 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001493.3(GDI1):c.578G>T (p.Arg193Leu) single nucleotide variant Intellectual disability [RCV001260618] ChrX:154440130 [GRCh38]
ChrX:153668477 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4226 AgrOrtholog
COSMIC GDI1 COSMIC
Ensembl Genes ENSG00000203879 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000394071 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000394752 UniProtKB/TrEMBL
  ENSP00000396215 UniProtKB/TrEMBL
  ENSP00000416195 UniProtKB/TrEMBL
  ENSP00000486715 UniProtKB/TrEMBL
Ensembl Transcript ENST00000415109 UniProtKB/TrEMBL
  ENST00000434049 UniProtKB/TrEMBL
  ENST00000445564 UniProtKB/TrEMBL
  ENST00000447750 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000630693 UniProtKB/TrEMBL
Gene3D-CATH 3.50.50.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000203879 GTEx
HGNC ID HGNC:4226 ENTREZGENE
Human Proteome Map GDI1 Human Proteome Map
InterPro FAD/NAD-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GDP_dissociation_inhibitor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RabGDI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2664 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2664 ENTREZGENE
OMIM 300104 OMIM
  300849 OMIM
PANTHER PTHR11787 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam GDI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28641 PharmGKB
PRINTS RABGDI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RABGDIREP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51905 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z3X8 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z426_HUMAN UniProtKB/TrEMBL
  F8WCU0_HUMAN UniProtKB/TrEMBL
  F8WE59_HUMAN UniProtKB/TrEMBL
  G5E9U5_HUMAN UniProtKB/TrEMBL
  GDIA_HUMAN UniProtKB/Swiss-Prot
  L8EC88_HUMAN UniProtKB/TrEMBL
  P31150 ENTREZGENE
UniProt Secondary P50394 UniProtKB/Swiss-Prot
  Q6FG50 UniProtKB/Swiss-Prot
  Q7Z2G6 UniProtKB/Swiss-Prot
  Q7Z2G9 UniProtKB/Swiss-Prot
  Q7Z2H5 UniProtKB/Swiss-Prot
  Q7Z2I6 UniProtKB/Swiss-Prot