HCFC1 (host cell factor C1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: HCFC1 (host cell factor C1) Homo sapiens
Analyze
Symbol: HCFC1
Name: host cell factor C1
RGD ID: 1345622
HGNC Page HGNC
Description: Exhibits several functions, including activating transcription factor binding activity; identical protein binding activity; and transcription coactivator activity. Involved in several processes, including histone H4 acetylation; positive regulation of macromolecule metabolic process; and protein stabilization. Localizes to cytoplasm; neuronal cell body; and nucleoplasm. Colocalizes with Ada2/Gcn5/Ada3 transcription activator complex and SAGA-type complex. Implicated in methylmalonic acidemia and homocysteinemia cblX type.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: C1 factor; CFF; HCF; HCF-1; HCF1; HFC1; host cell factor 1; mental retardation, X-linked 3; MGC70925; MRX3; PPP1R89; VCAF; VP16 accessory protein
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 EnsemblX153,947,557 - 153,971,818 (-)EnsemblGRCh38hg38GRCh38
GRCh38X153,947,556 - 153,972,360 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,213,008 - 153,237,269 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X152,866,202 - 152,890,013 (-)NCBINCBI36hg18NCBI36
Build 34X152,733,854 - 152,751,024NCBI
CeleraX153,446,719 - 153,470,530 (-)NCBI
Cytogenetic MapXq28NCBI
HuRefX141,865,579 - 141,889,655 (-)NCBIHuRef
CHM1_1X153,087,420 - 153,111,232 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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

Human Phenotype
2-3 toe syndactyly  (IAGP)
Athetosis  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autistic behavior  (IAGP)
Babinski sign  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Brachycephaly  (IAGP)
Broad nasal tip  (IAGP)
Chorea  (IAGP)
Clinodactyly of the 2nd toe  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Downslanted palpebral fissures  (IAGP)
Drooling  (IAGP)
Facial palsy  (IAGP)
Failure to thrive  (IAGP)
Generalized hypotonia  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Global developmental delay  (IAGP)
Homocystinuria  (IAGP)
Hypsarrhythmia  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, profound  (IAGP)
Intellectual disability, severe  (IAGP)
Long palpebral fissure  (IAGP)
Long philtrum  (IAGP)
Macrocephaly  (IAGP)
Meckel diverticulum  (IAGP)
Methylmalonic acidemia  (IAGP)
Methylmalonic aciduria  (IAGP)
Microcephaly  (IAGP)
Midface retrusion  (IAGP)
Mild neurosensory hearing impairment  (IAGP)
Moderate sensorineural hearing impairment  (IAGP)
Neurodevelopmental abnormality  (IAGP)
Obesity  (IAGP)
Periorbital fullness  (IAGP)
Pes planus  (IAGP)
Poor speech  (IAGP)
Pyloric stenosis  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Short stature  (IAGP)
Shortening of all distal phalanges of the fingers  (IAGP)
Small for gestational age  (IAGP)
Thick lower lip vermilion  (IAGP)
Thin upper lip vermilion  (IAGP)
Urinary incontinence  (IAGP)
Widened subarachnoid space  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:1448082   PMID:1605216   PMID:1870093   PMID:7590226   PMID:7597030   PMID:7829097   PMID:7876203   PMID:8392914   PMID:8454622   PMID:8661027   PMID:9199328   PMID:9271389  
PMID:9315674   PMID:9389645   PMID:9658067   PMID:9822615   PMID:9889203   PMID:10623756   PMID:10629049   PMID:10637318   PMID:10675337   PMID:10779346   PMID:10821850   PMID:10871379  
PMID:10958670   PMID:10976766   PMID:11340173   PMID:11384994   PMID:11733490   PMID:12149646   PMID:12235138   PMID:12244100   PMID:12271126   PMID:12456665   PMID:12477932   PMID:12670868  
PMID:12743030   PMID:14532282   PMID:14983011   PMID:15190068   PMID:15199122   PMID:15200950   PMID:15489334   PMID:15522876   PMID:15705566   PMID:15931389   PMID:15960975   PMID:15966902  
PMID:16042417   PMID:16227571   PMID:16624878   PMID:16633736   PMID:16964243   PMID:17081983   PMID:17567994   PMID:17578910   PMID:17612494   PMID:17643375   PMID:17846119   PMID:17998332  
PMID:18029348   PMID:18271526   PMID:18343819   PMID:18391022   PMID:18520591   PMID:18585351   PMID:18838386   PMID:18838538   PMID:19131338   PMID:19188440   PMID:19292868   PMID:19322201  
PMID:19615732   PMID:19763085   PMID:19815555   PMID:19913121   PMID:19946888   PMID:20018852   PMID:20091349   PMID:20126307   PMID:20133788   PMID:20200153   PMID:20211142   PMID:20301503  
PMID:20305087   PMID:20360068   PMID:20479123   PMID:20516061   PMID:20622854   PMID:20628086   PMID:20805357   PMID:21081666   PMID:21145461   PMID:21285374   PMID:21295698   PMID:21319273  
PMID:21484256   PMID:21642991   PMID:21653943   PMID:21670149   PMID:21873635   PMID:21903422   PMID:21909281   PMID:22371484   PMID:22412018   PMID:22586326   PMID:22683710   PMID:22863883  
PMID:22883232   PMID:22939629   PMID:23000143   PMID:23022380   PMID:23045687   PMID:23353889   PMID:23539139   PMID:23583719   PMID:23629655   PMID:23870121   PMID:24011988   PMID:24211834  
PMID:24311690   PMID:24332808   PMID:24457600   PMID:24703950   PMID:24748658   PMID:24981860   PMID:25036637   PMID:25332235   PMID:25437553   PMID:25451922   PMID:25468996   PMID:25472883  
PMID:25595573   PMID:25609649   PMID:25740848   PMID:25798074   PMID:25900982   PMID:25921289   PMID:26075789   PMID:26186194   PMID:26305326   PMID:26344197   PMID:26416890   PMID:26419610  
PMID:26496610   PMID:26522729   PMID:26638075   PMID:26678539   PMID:26831064   PMID:26949251   PMID:26972000   PMID:27009953   PMID:27294441   PMID:27320910   PMID:27563068   PMID:27576892  
PMID:27634302   PMID:27684187   PMID:27703004   PMID:27705803   PMID:28242625   PMID:28481362   PMID:28486698   PMID:28514442   PMID:28515276   PMID:29053956   PMID:29180619   PMID:29229926  
PMID:29459360   PMID:29490077   PMID:29507755   PMID:29844126   PMID:29845934   PMID:29941490   PMID:29955894   PMID:29991511   PMID:30021884   PMID:30196744   PMID:30224358   PMID:30415952  
PMID:30463901   PMID:30585266   PMID:30585729   PMID:30804502   PMID:30833792   PMID:30948266   PMID:31048545   PMID:31076518   PMID:31091453   PMID:31180492   PMID:31227231   PMID:31536960  
PMID:31586073   PMID:31693902   PMID:32296183   PMID:32416067   PMID:32479599   PMID:32786267  


Genomics

Comparative Map Data
HCFC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX153,947,557 - 153,971,818 (-)EnsemblGRCh38hg38GRCh38
GRCh38X153,947,556 - 153,972,360 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,213,008 - 153,237,269 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X152,866,202 - 152,890,013 (-)NCBINCBI36hg18NCBI36
Build 34X152,733,854 - 152,751,024NCBI
CeleraX153,446,719 - 153,470,530 (-)NCBI
Cytogenetic MapXq28NCBI
HuRefX141,865,579 - 141,889,655 (-)NCBIHuRef
CHM1_1X153,087,420 - 153,111,232 (-)NCBICHM1_1
Hcfc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X72,986,398 - 73,011,430 (-)NCBIGRCm39mm39
GRCm39 EnsemblX72,986,398 - 73,009,963 (-)Ensembl
GRCm38X73,942,792 - 73,966,995 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX73,942,792 - 73,966,357 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X71,188,134 - 71,211,654 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X70,195,515 - 70,219,035 (-)NCBImm8
CeleraX65,195,177 - 65,218,707 (-)NCBICelera
Cytogenetic MapXA7.3NCBI
cM MapX37.52NCBI
Hcfc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X151,687,779 - 151,712,688 (-)NCBI
Rnor_6.0 EnsemblX156,812,064 - 156,837,227 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X156,812,012 - 156,837,227 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01152,560,125 - 152,585,295 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X159,875,671 - 159,900,536 (-)NCBIRGSC3.4rn4RGSC3.4
Celera1136,179,593 - 136,204,387 (+)NCBICelera
Cytogenetic MapXq37NCBI
Hcfc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955580616,477 - 635,597 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955580616,477 - 636,849 (-)NCBIChiLan1.0ChiLan1.0
HCFC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X153,389,853 - 153,412,997 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX153,389,859 - 153,412,999 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X143,502,159 - 143,526,418 (-)NCBIMhudiblu_PPA_v0panPan3
HCFC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X121,790,585 - 121,815,395 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX121,791,660 - 121,814,715 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX107,119,345 - 107,144,129 (-)NCBI
ROS_Cfam_1.0X124,931,866 - 124,956,652 (-)NCBI
UMICH_Zoey_3.1X120,701,137 - 120,725,917 (-)NCBI
UNSW_CanFamBas_1.0X123,216,537 - 123,241,305 (-)NCBI
UU_Cfam_GSD_1.0X122,977,879 - 123,002,669 (-)NCBI
Hcfc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X119,089,236 - 119,116,163 (-)NCBI
SpeTri2.0NW_004936809827,008 - 853,689 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HCFC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1X124,673,125 - 124,694,846 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X142,237,954 - 142,259,562 (-)NCBISscrofa10.2Sscrofa10.2susScr3
HCFC1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X128,371,518 - 128,395,920 (-)NCBI
ChlSab1.1 EnsemblX128,371,517 - 128,394,861 (-)Ensembl
Hcfc1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624946571,776 - 591,543 (-)NCBI

Position Markers
STS-L20010  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,213,304 - 153,213,493UniSTSGRCh37
Build 36X152,866,498 - 152,866,687RGDNCBI36
CeleraX153,447,015 - 153,447,204RGD
Cytogenetic MapXq28UniSTS
HuRefX141,865,875 - 141,866,064UniSTS
GeneMap99-GB4 RH MapX352.81UniSTS
DXS7501  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,213,196 - 153,213,305UniSTSGRCh37
Build 36X152,866,390 - 152,866,499RGDNCBI36
CeleraX153,446,907 - 153,447,016RGD
Cytogenetic MapXq28UniSTS
HuRefX141,865,767 - 141,865,876UniSTS
G42839  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,226,126 - 153,226,668UniSTSGRCh37
Build 36X152,879,320 - 152,879,862RGDNCBI36
CeleraX153,459,836 - 153,460,378RGD
Cytogenetic MapXq28UniSTS
G66666  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,228,051 - 153,228,869UniSTSGRCh37
Build 36X152,881,245 - 152,882,063RGDNCBI36
CeleraX153,461,761 - 153,462,579RGD
Cytogenetic MapXq28UniSTS
HuRefX141,880,716 - 141,881,534UniSTS
RH45209  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,214,227 - 153,214,425UniSTSGRCh37
Build 36X152,867,421 - 152,867,619RGDNCBI36
CeleraX153,447,938 - 153,448,136RGD
Cytogenetic MapXq28UniSTS
HuRefX141,866,798 - 141,866,996UniSTS
GeneMap99-GB4 RH MapX348.8UniSTS
ECD00101  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,216,806 - 153,217,743UniSTSGRCh37
Build 36X152,870,000 - 152,870,937RGDNCBI36
CeleraX153,450,516 - 153,451,453RGD
Cytogenetic MapXq28UniSTS
HuRefX141,869,377 - 141,870,313UniSTS
ECD00151  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,218,694 - 153,219,624UniSTSGRCh37
Build 36X152,871,888 - 152,872,818RGDNCBI36
CeleraX153,452,404 - 153,453,334RGD
Cytogenetic MapXq28UniSTS
HuRefX141,871,264 - 141,872,194UniSTS
ECD00933  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,217,779 - 153,218,663UniSTSGRCh37
Build 36X152,870,973 - 152,871,857RGDNCBI36
CeleraX153,451,489 - 153,452,373RGD
Cytogenetic MapXq28UniSTS
HuRefX141,870,349 - 141,871,233UniSTS
ECD01109  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,219,671 - 153,220,548UniSTSGRCh37
Build 36X152,872,865 - 152,873,742RGDNCBI36
CeleraX153,453,381 - 153,454,258RGD
Cytogenetic MapXq28UniSTS
HuRefX141,872,241 - 141,873,118UniSTS
ECD01350  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,215,935 - 153,216,803UniSTSGRCh37
Build 36X152,869,129 - 152,869,997RGDNCBI36
CeleraX153,449,645 - 153,450,513RGD
Cytogenetic MapXq28UniSTS
HuRefX141,868,506 - 141,869,374UniSTS
ECD01429  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37444,665,627 - 44,666,537UniSTSGRCh37
GRCh37X153,213,047 - 153,213,912UniSTSGRCh37
Build 36X152,866,241 - 152,867,106RGDNCBI36
CeleraX153,446,758 - 153,447,623RGD
Celera445,113,649 - 45,114,559UniSTS
Cytogenetic MapXq28UniSTS
HuRefX141,865,618 - 141,866,483UniSTS
HuRef443,987,289 - 43,988,199UniSTS
ECD01497  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,226,146 - 153,227,009UniSTSGRCh37
Build 36X152,879,340 - 152,880,203RGDNCBI36
CeleraX153,459,856 - 153,460,719RGD
Cytogenetic MapXq28UniSTS
ECD01731  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,214,026 - 153,214,881UniSTSGRCh37
Build 36X152,867,220 - 152,868,075RGDNCBI36
CeleraX153,447,737 - 153,448,591RGD
Cytogenetic MapXq28UniSTS
HuRefX141,866,597 - 141,867,452UniSTS
ECD01761  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,225,222 - 153,226,076UniSTSGRCh37
Build 36X152,878,416 - 152,879,270RGDNCBI36
CeleraX153,458,932 - 153,459,786RGD
Cytogenetic MapXq28UniSTS
HuRefX141,877,792 - 141,878,646UniSTS
ECD01762  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,227,109 - 153,227,963UniSTSGRCh37
Build 36X152,880,303 - 152,881,157RGDNCBI36
CeleraX153,460,819 - 153,461,673RGD
Cytogenetic MapXq28UniSTS
HuRefX141,879,727 - 141,880,628UniSTS
ECD01788  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,222,457 - 153,223,310UniSTSGRCh37
Build 36X152,875,651 - 152,876,504RGDNCBI36
CeleraX153,456,167 - 153,457,020RGD
Cytogenetic MapXq28UniSTS
HuRefX141,875,027 - 141,875,880UniSTS
ECD01892  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,214,942 - 153,215,791UniSTSGRCh37
Build 36X152,868,136 - 152,868,985RGDNCBI36
CeleraX153,448,652 - 153,449,501RGD
Cytogenetic MapXq28UniSTS
HuRefX141,867,513 - 141,868,362UniSTS
ECD01893  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,223,365 - 153,224,214UniSTSGRCh37
Build 36X152,876,559 - 152,877,408RGDNCBI36
CeleraX153,457,075 - 153,457,924RGD
Cytogenetic MapXq28UniSTS
HuRefX141,875,935 - 141,876,784UniSTS
ECD01973  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,236,990 - 153,237,836UniSTSGRCh37
Build 36X152,890,184 - 152,891,030RGDNCBI36
CeleraX153,470,701 - 153,471,548RGD
Cytogenetic MapXq28UniSTS
ECD02129  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,221,582 - 153,222,422UniSTSGRCh37
Build 36X152,874,776 - 152,875,616RGDNCBI36
CeleraX153,455,292 - 153,456,132RGD
Cytogenetic MapXq28UniSTS
HuRefX141,874,152 - 141,874,992UniSTS
ECD02313  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,224,309 - 153,225,143UniSTSGRCh37
Build 36X152,877,503 - 152,878,337RGDNCBI36
CeleraX153,458,019 - 153,458,853RGD
Cytogenetic MapXq28UniSTS
HuRefX141,876,879 - 141,877,713UniSTS
ECD02366  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,220,634 - 153,221,466UniSTSGRCh37
Build 36X152,873,828 - 152,874,660RGDNCBI36
CeleraX153,454,344 - 153,455,176RGD
Cytogenetic MapXq28UniSTS
HuRefX141,873,204 - 141,874,036UniSTS
ECD02419  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,231,693 - 153,232,523UniSTSGRCh37
Build 36X152,884,887 - 152,885,717RGDNCBI36
CeleraX153,465,404 - 153,466,234RGD
Cytogenetic MapXq28UniSTS
HuRefX141,884,359 - 141,885,189UniSTS
ECD02728  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,228,907 - 153,229,726UniSTSGRCh37
Build 36X152,882,101 - 152,882,920RGDNCBI36
CeleraX153,462,617 - 153,463,436RGD
Cytogenetic MapXq28UniSTS
HuRefX141,881,572 - 141,882,391UniSTS
ECD02900  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,229,768 - 153,230,581UniSTSGRCh37
Build 36X152,882,962 - 152,883,775RGDNCBI36
CeleraX153,463,478 - 153,464,291RGD
Cytogenetic MapXq28UniSTS
HuRefX141,882,433 - 141,883,246UniSTS
ECD03018  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,236,089 - 153,236,898UniSTSGRCh37
Build 36X152,889,283 - 152,890,092RGDNCBI36
CeleraX153,469,800 - 153,470,609RGD
Cytogenetic MapXq28UniSTS
HuRefX141,888,925 - 141,889,734UniSTS
ECD04266  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,228,061 - 153,228,830UniSTSGRCh37
Build 36X152,881,255 - 152,882,024RGDNCBI36
CeleraX153,461,771 - 153,462,540RGD
Cytogenetic MapXq28UniSTS
HuRefX141,880,726 - 141,881,495UniSTS
ECD04369  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,230,680 - 153,231,446UniSTSGRCh37
Build 36X152,883,874 - 152,884,640RGDNCBI36
CeleraX153,464,390 - 153,465,157RGD
Cytogenetic MapXq28UniSTS
HuRefX141,883,345 - 141,884,112UniSTS
ECD08337  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,234,266 - 153,234,923UniSTSGRCh37
Build 36X152,887,460 - 152,888,117RGDNCBI36
CeleraX153,467,977 - 153,468,634RGD
Cytogenetic MapXq28UniSTS
HuRefX141,886,932 - 141,887,589UniSTS
ECD08454  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,233,576 - 153,234,230UniSTSGRCh37
Build 36X152,886,770 - 152,887,424RGDNCBI36
CeleraX153,467,287 - 153,467,941RGD
Cytogenetic MapXq28UniSTS
HuRefX141,886,242 - 141,886,896UniSTS
ECD10095  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,234,988 - 153,235,599UniSTSGRCh37
Build 36X152,888,182 - 152,888,793RGDNCBI36
CeleraX153,468,699 - 153,469,310RGD
Cytogenetic MapXq28UniSTS
ECD16956  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,232,668 - 153,233,086UniSTSGRCh37
Build 36X152,885,862 - 152,886,280RGDNCBI36
CeleraX153,466,379 - 153,466,797RGD
Cytogenetic MapXq28UniSTS
HuRefX141,885,334 - 141,885,752UniSTS
ECD24109  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,238,219 - 153,238,379UniSTSGRCh37
Build 36X152,891,413 - 152,891,573RGDNCBI36
CeleraX153,471,931 - 153,472,091RGD
Cytogenetic MapXq28UniSTS
REN88271  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,212,521 - 153,212,768UniSTSGRCh37
Build 36X152,865,715 - 152,865,962RGDNCBI36
CeleraX153,446,232 - 153,446,479RGD
Cytogenetic MapXq28UniSTS
REN88272  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,212,747 - 153,213,015UniSTSGRCh37
Build 36X152,865,941 - 152,866,209RGDNCBI36
CeleraX153,446,458 - 153,446,726RGD
Cytogenetic MapXq28UniSTS
REN88273  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,212,983 - 153,213,223UniSTSGRCh37
Build 36X152,866,177 - 152,866,417RGDNCBI36
CeleraX153,446,694 - 153,446,934RGD
Cytogenetic MapXq28UniSTS
HuRefX141,865,554 - 141,865,794UniSTS
REN88274  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,213,191 - 153,213,441UniSTSGRCh37
Build 36X152,866,385 - 152,866,635RGDNCBI36
CeleraX153,446,902 - 153,447,152RGD
Cytogenetic MapXq28UniSTS
HuRefX141,865,762 - 141,866,012UniSTS
REN88275  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,213,412 - 153,213,669UniSTSGRCh37
Build 36X152,866,606 - 152,866,863RGDNCBI36
CeleraX153,447,123 - 153,447,380RGD
Cytogenetic MapXq28UniSTS
HuRefX141,865,983 - 141,866,240UniSTS
REN88276  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,213,647 - 153,213,871UniSTSGRCh37
Build 36X152,866,841 - 152,867,065RGDNCBI36
CeleraX153,447,358 - 153,447,582RGD
Cytogenetic MapXq28UniSTS
HuRefX141,866,218 - 141,866,442UniSTS
REN88277  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,213,844 - 153,214,086UniSTSGRCh37
Build 36X152,867,038 - 152,867,280RGDNCBI36
CeleraX153,447,555 - 153,447,797RGD
Cytogenetic MapXq28UniSTS
HuRefX141,866,415 - 141,866,657UniSTS
REN88278  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,214,062 - 153,214,331UniSTSGRCh37
Build 36X152,867,256 - 152,867,525RGDNCBI36
CeleraX153,447,773 - 153,448,042RGD
Cytogenetic MapXq28UniSTS
HuRefX141,866,633 - 141,866,902UniSTS
REN88279  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,214,313 - 153,214,539UniSTSGRCh37
Build 36X152,867,507 - 152,867,733RGDNCBI36
CeleraX153,448,024 - 153,448,249RGD
Cytogenetic MapXq28UniSTS
HuRefX141,866,884 - 141,867,110UniSTS
REN88280  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,214,511 - 153,214,781UniSTSGRCh37
Build 36X152,867,705 - 152,867,975RGDNCBI36
CeleraX153,448,221 - 153,448,491RGD
Cytogenetic MapXq28UniSTS
HuRefX141,867,082 - 141,867,352UniSTS
REN88281  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,214,768 - 153,215,019UniSTSGRCh37
Build 36X152,867,962 - 152,868,213RGDNCBI36
CeleraX153,448,478 - 153,448,729RGD
Cytogenetic MapXq28UniSTS
HuRefX141,867,339 - 141,867,590UniSTS
REN88282  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,214,996 - 153,215,233UniSTSGRCh37
Build 36X152,868,190 - 152,868,427RGDNCBI36
CeleraX153,448,706 - 153,448,943RGD
Cytogenetic MapXq28UniSTS
HuRefX141,867,567 - 141,867,804UniSTS
REN88283  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,215,201 - 153,215,457UniSTSGRCh37
Build 36X152,868,395 - 152,868,651RGDNCBI36
CeleraX153,448,911 - 153,449,167RGD
Cytogenetic MapXq28UniSTS
HuRefX141,867,772 - 141,868,028UniSTS
REN88284  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,215,429 - 153,215,676UniSTSGRCh37
Build 36X152,868,623 - 152,868,870RGDNCBI36
CeleraX153,449,139 - 153,449,386RGD
Cytogenetic MapXq28UniSTS
HuRefX141,868,000 - 141,868,247UniSTS
REN88285  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,215,673 - 153,215,945UniSTSGRCh37
Build 36X152,868,867 - 152,869,139RGDNCBI36
CeleraX153,449,383 - 153,449,655RGD
Cytogenetic MapXq28UniSTS
HuRefX141,868,244 - 141,868,516UniSTS
REN88286  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,215,936 - 153,216,187UniSTSGRCh37
Build 36X152,869,130 - 152,869,381RGDNCBI36
CeleraX153,449,646 - 153,449,897RGD
Cytogenetic MapXq28UniSTS
HuRefX141,868,507 - 141,868,758UniSTS
REN88287  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,216,153 - 153,216,391UniSTSGRCh37
Build 36X152,869,347 - 152,869,585RGDNCBI36
CeleraX153,449,863 - 153,450,101RGD
Cytogenetic MapXq28UniSTS
HuRefX141,868,724 - 141,868,962UniSTS
REN88288  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,216,368 - 153,216,630UniSTSGRCh37
Build 36X152,869,562 - 152,869,824RGDNCBI36
CeleraX153,450,078 - 153,450,340RGD
Cytogenetic MapXq28UniSTS
HuRefX141,868,939 - 141,869,201UniSTS
REN88289  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,216,624 - 153,216,871UniSTSGRCh37
Build 36X152,869,818 - 152,870,065RGDNCBI36
CeleraX153,450,334 - 153,450,581RGD
Cytogenetic MapXq28UniSTS
HuRefX141,869,195 - 141,869,442UniSTS
REN88290  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,216,843 - 153,217,087UniSTSGRCh37
Build 36X152,870,037 - 152,870,281RGDNCBI36
CeleraX153,450,553 - 153,450,797RGD
Cytogenetic MapXq28UniSTS
HuRefX141,869,414 - 141,869,658UniSTS
REN88291  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,217,034 - 153,217,300UniSTSGRCh37
Build 36X152,870,228 - 152,870,494RGDNCBI36
CeleraX153,450,744 - 153,451,010RGD
Cytogenetic MapXq28UniSTS
HuRefX141,869,605 - 141,869,871UniSTS
REN88292  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,217,277 - 153,217,511UniSTSGRCh37
Build 36X152,870,471 - 152,870,705RGDNCBI36
CeleraX153,450,987 - 153,451,221RGD
Cytogenetic MapXq28UniSTS
HuRefX141,869,848 - 141,870,082UniSTS
REN88293  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,217,490 - 153,217,740UniSTSGRCh37
Build 36X152,870,684 - 152,870,934RGDNCBI36
CeleraX153,451,200 - 153,451,450RGD
Cytogenetic MapXq28UniSTS
HuRefX141,870,061 - 141,870,310UniSTS
REN88294  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,217,680 - 153,217,907UniSTSGRCh37
Build 36X152,870,874 - 152,871,101RGDNCBI36
CeleraX153,451,390 - 153,451,617RGD
Cytogenetic MapXq28UniSTS
HuRefX141,870,250 - 141,870,477UniSTS
REN88295  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,217,875 - 153,218,113UniSTSGRCh37
Build 36X152,871,069 - 152,871,307RGDNCBI36
CeleraX153,451,585 - 153,451,823RGD
Cytogenetic MapXq28UniSTS
HuRefX141,870,445 - 141,870,683UniSTS
REN88296  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,218,093 - 153,218,352UniSTSGRCh37
Build 36X152,871,287 - 152,871,546RGDNCBI36
CeleraX153,451,803 - 153,452,062RGD
Cytogenetic MapXq28UniSTS
HuRefX141,870,663 - 141,870,922UniSTS
REN88297  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,218,337 - 153,218,570UniSTSGRCh37
Build 36X152,871,531 - 152,871,764RGDNCBI36
CeleraX153,452,047 - 153,452,280RGD
Cytogenetic MapXq28UniSTS
HuRefX141,870,907 - 141,871,140UniSTS
REN88298  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,218,561 - 153,218,827UniSTSGRCh37
Build 36X152,871,755 - 152,872,021RGDNCBI36
CeleraX153,452,271 - 153,452,537RGD
Cytogenetic MapXq28UniSTS
HuRefX141,871,131 - 141,871,397UniSTS
REN88299  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,218,773 - 153,219,009UniSTSGRCh37
Build 36X152,871,967 - 152,872,203RGDNCBI36
CeleraX153,452,483 - 153,452,719RGD
Cytogenetic MapXq28UniSTS
HuRefX141,871,343 - 141,871,579UniSTS
REN88300  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,218,982 - 153,219,206UniSTSGRCh37
Build 36X152,872,176 - 152,872,400RGDNCBI36
CeleraX153,452,692 - 153,452,916RGD
Cytogenetic MapXq28UniSTS
HuRefX141,871,552 - 141,871,776UniSTS
REN88301  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,219,175 - 153,219,435UniSTSGRCh37
Build 36X152,872,369 - 152,872,629RGDNCBI36
CeleraX153,452,885 - 153,453,145RGD
Cytogenetic MapXq28UniSTS
HuRefX141,871,745 - 141,872,005UniSTS
REN88302  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,219,404 - 153,219,628UniSTSGRCh37
Build 36X152,872,598 - 152,872,822RGDNCBI36
CeleraX153,453,114 - 153,453,338RGD
Cytogenetic MapXq28UniSTS
HuRefX141,871,974 - 141,872,198UniSTS
REN88303  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,219,601 - 153,219,851UniSTSGRCh37
Build 36X152,872,795 - 152,873,045RGDNCBI36
CeleraX153,453,311 - 153,453,561RGD
Cytogenetic MapXq28UniSTS
HuRefX141,872,171 - 141,872,421UniSTS
REN88304  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,219,832 - 153,220,082UniSTSGRCh37
Build 36X152,873,026 - 152,873,276RGDNCBI36
CeleraX153,453,542 - 153,453,792RGD
Cytogenetic MapXq28UniSTS
HuRefX141,872,402 - 141,872,652UniSTS
REN88305  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,220,067 - 153,220,331UniSTSGRCh37
Build 36X152,873,261 - 152,873,525RGDNCBI36
CeleraX153,453,777 - 153,454,041RGD
Cytogenetic MapXq28UniSTS
HuRefX141,872,637 - 141,872,901UniSTS
REN88306  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,220,308 - 153,220,549UniSTSGRCh37
Build 36X152,873,502 - 152,873,743RGDNCBI36
CeleraX153,454,018 - 153,454,259RGD
Cytogenetic MapXq28UniSTS
HuRefX141,872,878 - 141,873,119UniSTS
REN88307  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,220,518 - 153,220,760UniSTSGRCh37
Build 36X152,873,712 - 152,873,954RGDNCBI36
CeleraX153,454,228 - 153,454,470RGD
Cytogenetic MapXq28UniSTS
HuRefX141,873,088 - 141,873,330UniSTS
REN88308  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,220,751 - 153,221,024UniSTSGRCh37
Build 36X152,873,945 - 152,874,218RGDNCBI36
CeleraX153,454,461 - 153,454,734RGD
Cytogenetic MapXq28UniSTS
HuRefX141,873,321 - 141,873,594UniSTS
REN88309  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,221,001 - 153,221,274UniSTSGRCh37
Build 36X152,874,195 - 152,874,468RGDNCBI36
CeleraX153,454,711 - 153,454,984RGD
Cytogenetic MapXq28UniSTS
HuRefX141,873,571 - 141,873,844UniSTS
REN88310  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,221,248 - 153,221,478UniSTSGRCh37
Build 36X152,874,442 - 152,874,672RGDNCBI36
CeleraX153,454,958 - 153,455,188RGD
Cytogenetic MapXq28UniSTS
HuRefX141,873,818 - 141,874,048UniSTS
REN88311  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,221,472 - 153,221,722UniSTSGRCh37
Build 36X152,874,666 - 152,874,916RGDNCBI36
CeleraX153,455,182 - 153,455,432RGD
Cytogenetic MapXq28UniSTS
HuRefX141,874,042 - 141,874,292UniSTS
REN88312  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,221,679 - 153,221,921UniSTSGRCh37
Build 36X152,874,873 - 152,875,115RGDNCBI36
CeleraX153,455,389 - 153,455,631RGD
Cytogenetic MapXq28UniSTS
HuRefX141,874,249 - 141,874,491UniSTS
REN88313  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,221,892 - 153,222,142UniSTSGRCh37
Build 36X152,875,086 - 152,875,336RGDNCBI36
CeleraX153,455,602 - 153,455,852RGD
Cytogenetic MapXq28UniSTS
HuRefX141,874,462 - 141,874,712UniSTS
REN88314  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,222,135 - 153,222,383UniSTSGRCh37
Build 36X152,875,329 - 152,875,577RGDNCBI36
CeleraX153,455,845 - 153,456,093RGD
Cytogenetic MapXq28UniSTS
HuRefX141,874,705 - 141,874,953UniSTS
REN88315  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,222,360 - 153,222,607UniSTSGRCh37
Build 36X152,875,554 - 152,875,801RGDNCBI36
CeleraX153,456,070 - 153,456,317RGD
Cytogenetic MapXq28UniSTS
HuRefX141,874,930 - 141,875,177UniSTS
REN88316  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,222,603 - 153,222,827UniSTSGRCh37
Build 36X152,875,797 - 152,876,021RGDNCBI36
CeleraX153,456,313 - 153,456,537RGD
Cytogenetic MapXq28UniSTS
HuRefX141,875,173 - 141,875,397UniSTS
REN88317  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,222,795 - 153,223,053UniSTSGRCh37
Build 36X152,875,989 - 152,876,247RGDNCBI36
CeleraX153,456,505 - 153,456,763RGD
Cytogenetic MapXq28UniSTS
HuRefX141,875,365 - 141,875,623UniSTS
REN88318  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,223,031 - 153,223,293UniSTSGRCh37
Build 36X152,876,225 - 152,876,487RGDNCBI36
CeleraX153,456,741 - 153,457,003RGD
Cytogenetic MapXq28UniSTS
HuRefX141,875,601 - 141,875,863UniSTS
REN88319  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,223,270 - 153,223,514UniSTSGRCh37
Build 36X152,876,464 - 152,876,708RGDNCBI36
CeleraX153,456,980 - 153,457,224RGD
Cytogenetic MapXq28UniSTS
HuRefX141,875,840 - 141,876,084UniSTS
REN88320  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,223,507 - 153,223,769UniSTSGRCh37
Build 36X152,876,701 - 152,876,963RGDNCBI36
CeleraX153,457,217 - 153,457,479RGD
Cytogenetic MapXq28UniSTS
HuRefX141,876,077 - 141,876,339UniSTS
REN88321  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,223,749 - 153,223,992UniSTSGRCh37
Build 36X152,876,943 - 152,877,186RGDNCBI36
CeleraX153,457,459 - 153,457,702RGD
Cytogenetic MapXq28UniSTS
HuRefX141,876,319 - 141,876,562UniSTS
REN88322  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,223,966 - 153,224,214UniSTSGRCh37
Build 36X152,877,160 - 152,877,408RGDNCBI36
CeleraX153,457,676 - 153,457,924RGD
Cytogenetic MapXq28UniSTS
HuRefX141,876,536 - 141,876,784UniSTS
REN88323  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,224,186 - 153,224,448UniSTSGRCh37
Build 36X152,877,380 - 152,877,642RGDNCBI36
CeleraX153,457,896 - 153,458,158RGD
Cytogenetic MapXq28UniSTS
HuRefX141,876,756 - 141,877,018UniSTS
REN88324  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,224,441 - 153,224,703UniSTSGRCh37
Build 36X152,877,635 - 152,877,897RGDNCBI36
CeleraX153,458,151 - 153,458,413RGD
Cytogenetic MapXq28UniSTS
HuRefX141,877,011 - 141,877,273UniSTS
REN88325  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,224,701 - 153,224,940UniSTSGRCh37
Build 36X152,877,895 - 152,878,134RGDNCBI36
CeleraX153,458,411 - 153,458,650RGD
Cytogenetic MapXq28UniSTS
HuRefX141,877,271 - 141,877,510UniSTS
REN88326  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,224,935 - 153,225,177UniSTSGRCh37
Build 36X152,878,129 - 152,878,371RGDNCBI36
CeleraX153,458,645 - 153,458,887RGD
Cytogenetic MapXq28UniSTS
HuRefX141,877,505 - 141,877,747UniSTS
REN88327  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,225,171 - 153,225,435UniSTSGRCh37
Build 36X152,878,365 - 152,878,629RGDNCBI36
CeleraX153,458,881 - 153,459,145RGD
Cytogenetic MapXq28UniSTS
HuRefX141,877,741 - 141,878,005UniSTS
REN88328  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,225,413 - 153,225,640UniSTSGRCh37
Build 36X152,878,607 - 152,878,834RGDNCBI36
CeleraX153,459,123 - 153,459,350RGD
Cytogenetic MapXq28UniSTS
HuRefX141,877,983 - 141,878,210UniSTS
REN88329  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,225,620 - 153,225,851UniSTSGRCh37
Build 36X152,878,814 - 152,879,045RGDNCBI36
CeleraX153,459,330 - 153,459,561RGD
Cytogenetic MapXq28UniSTS
HuRefX141,878,190 - 141,878,421UniSTS
REN88330  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,225,847 - 153,226,098UniSTSGRCh37
Build 36X152,879,041 - 152,879,292RGDNCBI36
CeleraX153,459,557 - 153,459,808RGD
Cytogenetic MapXq28UniSTS
HuRefX141,878,417 - 141,878,668UniSTS
REN88331  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,226,075 - 153,226,334UniSTSGRCh37
Build 36X152,879,269 - 152,879,528RGDNCBI36
CeleraX153,459,785 - 153,460,044RGD
Cytogenetic MapXq28UniSTS
HuRefX141,878,645 - 141,878,952UniSTS
REN88332  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,226,313 - 153,226,577UniSTSGRCh37
Build 36X152,879,507 - 152,879,771RGDNCBI36
CeleraX153,460,023 - 153,460,287RGD
Cytogenetic MapXq28UniSTS
HuRefX141,878,931 - 141,879,195UniSTS
REN88333  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,226,570 - 153,226,815UniSTSGRCh37
Build 36X152,879,764 - 152,880,009RGDNCBI36
CeleraX153,460,280 - 153,460,525RGD
Cytogenetic MapXq28UniSTS
HuRefX141,879,188 - 141,879,433UniSTS
REN88334  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,226,796 - 153,227,043UniSTSGRCh37
Build 36X152,879,990 - 152,880,237RGDNCBI36
CeleraX153,460,506 - 153,460,753RGD
Cytogenetic MapXq28UniSTS
HuRefX141,879,414 - 141,879,661UniSTS
REN88335  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,227,021 - 153,227,293UniSTSGRCh37
Build 36X152,880,215 - 152,880,487RGDNCBI36
CeleraX153,460,731 - 153,461,003RGD
Cytogenetic MapXq28UniSTS
HuRefX141,879,639 - 141,879,911UniSTS
REN88336  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,227,270 - 153,227,511UniSTSGRCh37
Build 36X152,880,464 - 152,880,705RGDNCBI36
CeleraX153,460,980 - 153,461,221RGD
Cytogenetic MapXq28UniSTS
REN88337  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,227,488 - 153,227,747UniSTSGRCh37
Build 36X152,880,682 - 152,880,941RGDNCBI36
CeleraX153,461,198 - 153,461,457RGD
Cytogenetic MapXq28UniSTS
REN88338  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,227,738 - 153,227,980UniSTSGRCh37
Build 36X152,880,932 - 152,881,174RGDNCBI36
CeleraX153,461,448 - 153,461,690RGD
Cytogenetic MapXq28UniSTS
REN88339  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,227,956 - 153,228,202UniSTSGRCh37
Build 36X152,881,150 - 152,881,396RGDNCBI36
CeleraX153,461,666 - 153,461,912RGD
Cytogenetic MapXq28UniSTS
HuRefX141,880,621 - 141,880,867UniSTS
REN88340  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,228,178 - 153,228,417UniSTSGRCh37
Build 36X152,881,372 - 152,881,611RGDNCBI36
CeleraX153,461,888 - 153,462,127RGD
Cytogenetic MapXq28UniSTS
HuRefX141,880,843 - 141,881,082UniSTS
REN88341  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,228,395 - 153,228,641UniSTSGRCh37
Build 36X152,881,589 - 152,881,835RGDNCBI36
CeleraX153,462,105 - 153,462,351RGD
Cytogenetic MapXq28UniSTS
HuRefX141,881,060 - 141,881,306UniSTS
REN88342  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,228,623 - 153,228,851UniSTSGRCh37
Build 36X152,881,817 - 152,882,045RGDNCBI36
CeleraX153,462,333 - 153,462,561RGD
Cytogenetic MapXq28UniSTS
HuRefX141,881,288 - 141,881,516UniSTS
REN88343  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,228,848 - 153,229,076UniSTSGRCh37
Build 36X152,882,042 - 152,882,270RGDNCBI36
CeleraX153,462,558 - 153,462,786RGD
Cytogenetic MapXq28UniSTS
HuRefX141,881,513 - 141,881,741UniSTS
REN88344  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,229,052 - 153,229,302UniSTSGRCh37
Build 36X152,882,246 - 152,882,496RGDNCBI36
CeleraX153,462,762 - 153,463,012RGD
Cytogenetic MapXq28UniSTS
HuRefX141,881,717 - 141,881,967UniSTS
REN88345  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,229,291 - 153,229,515UniSTSGRCh37
Build 36X152,882,485 - 152,882,709RGDNCBI36
CeleraX153,463,001 - 153,463,225RGD
Cytogenetic MapXq28UniSTS
HuRefX141,881,956 - 141,882,180UniSTS
REN88346  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,229,486 - 153,229,724UniSTSGRCh37
Build 36X152,882,680 - 152,882,918RGDNCBI36
CeleraX153,463,196 - 153,463,434RGD
Cytogenetic MapXq28UniSTS
HuRefX141,882,151 - 141,882,389UniSTS
REN88347  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,229,696 - 153,229,941UniSTSGRCh37
Build 36X152,882,890 - 152,883,135RGDNCBI36
CeleraX153,463,406 - 153,463,651RGD
Cytogenetic MapXq28UniSTS
HuRefX141,882,361 - 141,882,606UniSTS
REN88348  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,229,922 - 153,230,165UniSTSGRCh37
Build 36X152,883,116 - 152,883,359RGDNCBI36
CeleraX153,463,632 - 153,463,875RGD
Cytogenetic MapXq28UniSTS
HuRefX141,882,587 - 141,882,830UniSTS
REN88349  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,230,150 - 153,230,381UniSTSGRCh37
Build 36X152,883,344 - 152,883,575RGDNCBI36
CeleraX153,463,860 - 153,464,091RGD
Cytogenetic MapXq28UniSTS
HuRefX141,882,815 - 141,883,046UniSTS
REN88350  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,230,345 - 153,230,582UniSTSGRCh37
Build 36X152,883,539 - 152,883,776RGDNCBI36
CeleraX153,464,055 - 153,464,292RGD
Cytogenetic MapXq28UniSTS
HuRefX141,883,010 - 141,883,247UniSTS
REN88351  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,230,557 - 153,230,811UniSTSGRCh37
Build 36X152,883,751 - 152,884,005RGDNCBI36
CeleraX153,464,267 - 153,464,521RGD
Cytogenetic MapXq28UniSTS
HuRefX141,883,222 - 141,883,476UniSTS
REN88352  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,230,810 - 153,231,041UniSTSGRCh37
Build 36X152,884,004 - 152,884,235RGDNCBI36
CeleraX153,464,520 - 153,464,752RGD
Cytogenetic MapXq28UniSTS
HuRefX141,883,475 - 141,883,707UniSTS
REN88353  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,231,021 - 153,231,269UniSTSGRCh37
Build 36X152,884,215 - 152,884,463RGDNCBI36
CeleraX153,464,732 - 153,464,980RGD
Cytogenetic MapXq28UniSTS
HuRefX141,883,687 - 141,883,935UniSTS
REN88354  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,231,245 - 153,231,489UniSTSGRCh37
Build 36X152,884,439 - 152,884,683RGDNCBI36
CeleraX153,464,956 - 153,465,200RGD
Cytogenetic MapXq28UniSTS
HuRefX141,883,911 - 141,884,155UniSTS
REN88355  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,231,436 - 153,231,668UniSTSGRCh37
Build 36X152,884,630 - 152,884,862RGDNCBI36
CeleraX153,465,147 - 153,465,379RGD
Cytogenetic MapXq28UniSTS
HuRefX141,884,102 - 141,884,334UniSTS
REN88356  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,231,644 - 153,231,891UniSTSGRCh37
Build 36X152,884,838 - 152,885,085RGDNCBI36
CeleraX153,465,355 - 153,465,602RGD
Cytogenetic MapXq28UniSTS
HuRefX141,884,310 - 141,884,557UniSTS
REN88357  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,231,862 - 153,232,110UniSTSGRCh37
Build 36X152,885,056 - 152,885,304RGDNCBI36
CeleraX153,465,573 - 153,465,821RGD
Cytogenetic MapXq28UniSTS
HuRefX141,884,528 - 141,884,776UniSTS
REN88358  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,232,051 - 153,232,317UniSTSGRCh37
Build 36X152,885,245 - 152,885,511RGDNCBI36
CeleraX153,465,762 - 153,466,028RGD
Cytogenetic MapXq28UniSTS
HuRefX141,884,717 - 141,884,983UniSTS
REN88359  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,232,294 - 153,232,518UniSTSGRCh37
Build 36X152,885,488 - 152,885,712RGDNCBI36
CeleraX153,466,005 - 153,466,229RGD
Cytogenetic MapXq28UniSTS
HuRefX141,884,960 - 141,885,184UniSTS
REN88360  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,232,502 - 153,232,767UniSTSGRCh37
Build 36X152,885,696 - 152,885,961RGDNCBI36
CeleraX153,466,213 - 153,466,478RGD
Cytogenetic MapXq28UniSTS
HuRefX141,885,168 - 141,885,433UniSTS
REN88361  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,232,744 - 153,232,988UniSTSGRCh37
Build 36X152,885,938 - 152,886,182RGDNCBI36
CeleraX153,466,455 - 153,466,699RGD
Cytogenetic MapXq28UniSTS
HuRefX141,885,410 - 141,885,654UniSTS
REN88362  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,232,937 - 153,233,193UniSTSGRCh37
Build 36X152,886,131 - 152,886,387RGDNCBI36
CeleraX153,466,648 - 153,466,904RGD
Cytogenetic MapXq28UniSTS
HuRefX141,885,603 - 141,885,859UniSTS
REN88363  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,233,171 - 153,233,425UniSTSGRCh37
Build 36X152,886,365 - 152,886,619RGDNCBI36
CeleraX153,466,882 - 153,467,136RGD
Cytogenetic MapXq28UniSTS
HuRefX141,885,837 - 141,886,091UniSTS
REN88364  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,233,408 - 153,233,671UniSTSGRCh37
Build 36X152,886,602 - 152,886,865RGDNCBI36
CeleraX153,467,119 - 153,467,382RGD
Cytogenetic MapXq28UniSTS
HuRefX141,886,074 - 141,886,337UniSTS
REN88365  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,233,652 - 153,233,889UniSTSGRCh37
Build 36X152,886,846 - 152,887,083RGDNCBI36
CeleraX153,467,363 - 153,467,600RGD
Cytogenetic MapXq28UniSTS
HuRefX141,886,318 - 141,886,555UniSTS
REN88366  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,233,851 - 153,234,110UniSTSGRCh37
Build 36X152,887,045 - 152,887,304RGDNCBI36
CeleraX153,467,562 - 153,467,821RGD
Cytogenetic MapXq28UniSTS
HuRefX141,886,517 - 141,886,776UniSTS
REN88367  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,234,093 - 153,234,346UniSTSGRCh37
Build 36X152,887,287 - 152,887,540RGDNCBI36
CeleraX153,467,804 - 153,468,057RGD
Cytogenetic MapXq28UniSTS
HuRefX141,886,759 - 141,887,012UniSTS
REN88368  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,234,341 - 153,234,566UniSTSGRCh37
Build 36X152,887,535 - 152,887,760RGDNCBI36
CeleraX153,468,052 - 153,468,277RGD
Cytogenetic MapXq28UniSTS
HuRefX141,887,007 - 141,887,232UniSTS
REN88369  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,234,505 - 153,234,741UniSTSGRCh37
Build 36X152,887,699 - 152,887,935RGDNCBI36
CeleraX153,468,216 - 153,468,452RGD
Cytogenetic MapXq28UniSTS
HuRefX141,887,171 - 141,887,407UniSTS
REN88370  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,234,737 - 153,235,004UniSTSGRCh37
Build 36X152,887,931 - 152,888,198RGDNCBI36
CeleraX153,468,448 - 153,468,715RGD
Cytogenetic MapXq28UniSTS
HuRefX141,887,403 - 141,887,670UniSTS
REN88371  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,234,993 - 153,235,217UniSTSGRCh37
Build 36X152,888,187 - 152,888,411RGDNCBI36
CeleraX153,468,704 - 153,468,928RGD
Cytogenetic MapXq28UniSTS
HuRefX141,887,659 - 141,887,883UniSTS
REN88372  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,235,173 - 153,235,398UniSTSGRCh37
Build 36X152,888,367 - 152,888,592RGDNCBI36
CeleraX153,468,884 - 153,469,109RGD
Cytogenetic MapXq28UniSTS
HuRefX141,887,839 - 141,888,064UniSTS
REN88373  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,235,371 - 153,235,598UniSTSGRCh37
Build 36X152,888,565 - 152,888,792RGDNCBI36
CeleraX153,469,082 - 153,469,309RGD
Cytogenetic MapXq28UniSTS
REN88374  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,235,573 - 153,235,840UniSTSGRCh37
Build 36X152,888,767 - 152,889,034RGDNCBI36
CeleraX153,469,284 - 153,469,551RGD
Cytogenetic MapXq28UniSTS
REN88375  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,235,812 - 153,236,062UniSTSGRCh37
GRCh37X153,235,812 - 153,235,995UniSTSGRCh37
Build 36X152,889,006 - 152,889,189RGDNCBI36
CeleraX153,469,523 - 153,469,706RGD
CeleraX153,469,523 - 153,469,773UniSTS
Cytogenetic MapXq28UniSTS
REN88376  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,236,059 - 153,236,307UniSTSGRCh37
Build 36X152,889,253 - 152,889,501RGDNCBI36
CeleraX153,469,770 - 153,470,018RGD
Cytogenetic MapXq28UniSTS
HuRefX141,888,895 - 141,889,143UniSTS
REN88377  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,236,284 - 153,236,527UniSTSGRCh37
Build 36X152,889,478 - 152,889,721RGDNCBI36
CeleraX153,469,995 - 153,470,238RGD
Cytogenetic MapXq28UniSTS
HuRefX141,889,120 - 141,889,363UniSTS
REN88378  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,236,517 - 153,236,761UniSTSGRCh37
Build 36X152,889,711 - 152,889,955RGDNCBI36
CeleraX153,470,228 - 153,470,472RGD
Cytogenetic MapXq28UniSTS
HuRefX141,889,353 - 141,889,597UniSTS
REN88379  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,236,743 - 153,237,003UniSTSGRCh37
Build 36X152,889,937 - 152,890,197RGDNCBI36
CeleraX153,470,454 - 153,470,714RGD
Cytogenetic MapXq28UniSTS
HuRefX141,889,579 - 141,889,839UniSTS
REN88380  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,236,983 - 153,237,225UniSTSGRCh37
Build 36X152,890,177 - 152,890,419RGDNCBI36
CeleraX153,470,694 - 153,470,936RGD
Cytogenetic MapXq28UniSTS
HuRefX141,889,819 - 141,890,061UniSTS
REN88381  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,237,164 - 153,237,406UniSTSGRCh37
Build 36X152,890,358 - 152,890,600RGDNCBI36
CeleraX153,470,875 - 153,471,117RGD
Cytogenetic MapXq28UniSTS
HuRefX141,890,000 - 141,890,242UniSTS
REN88382  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,237,378 - 153,237,622UniSTSGRCh37
Build 36X152,890,572 - 152,890,816RGDNCBI36
CeleraX153,471,089 - 153,471,333RGD
Cytogenetic MapXq28UniSTS
REN88383  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,237,462 - 153,237,723UniSTSGRCh37
Build 36X152,890,656 - 152,890,917RGDNCBI36
CeleraX153,471,173 - 153,471,435RGD
Cytogenetic MapXq28UniSTS
REN88384  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,238,269 - 153,238,495UniSTSGRCh37
Build 36X152,891,463 - 152,891,689RGDNCBI36
CeleraX153,471,981 - 153,472,207RGD
Cytogenetic MapXq28UniSTS
REN88385  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,238,476 - 153,238,723UniSTSGRCh37
Build 36X152,891,670 - 152,891,917RGDNCBI36
CeleraX153,472,188 - 153,472,435RGD
Cytogenetic MapXq28UniSTS
REN88386  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,238,665 - 153,238,904UniSTSGRCh37
Build 36X152,891,859 - 152,892,098RGDNCBI36
CeleraX153,472,377 - 153,472,616RGD
Cytogenetic MapXq28UniSTS
HuRefX141,890,904 - 141,891,143UniSTS
REN88388  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,239,018 - 153,239,266UniSTSGRCh37
Build 36X152,892,212 - 152,892,460RGDNCBI36
CeleraX153,472,730 - 153,472,978RGD
Cytogenetic MapXq28UniSTS
HuRefX141,891,257 - 141,891,505UniSTS
stSG603716  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,213,351 - 153,214,375UniSTSGRCh37
Build 36X152,866,545 - 152,867,569RGDNCBI36
CeleraX153,447,062 - 153,448,086RGD
Cytogenetic MapXq28UniSTS
HuRefX141,865,922 - 141,866,946UniSTS
stSG603717  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,214,356 - 153,215,787UniSTSGRCh37
Build 36X152,867,550 - 152,868,981RGDNCBI36
CeleraX153,448,067 - 153,449,497RGD
Cytogenetic MapXq28UniSTS
HuRefX141,866,927 - 141,868,358UniSTS
stSG603718  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,215,768 - 153,217,170UniSTSGRCh37
Build 36X152,868,962 - 152,870,364RGDNCBI36
CeleraX153,449,478 - 153,450,880RGD
HuRefX141,868,339 - 141,869,741UniSTS
stSG603719  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,217,151 - 153,218,441UniSTSGRCh37
Build 36X152,870,345 - 152,871,635RGDNCBI36
CeleraX153,450,861 - 153,452,151RGD
HuRefX141,869,722 - 141,871,011UniSTS
stSG603720  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,218,422 - 153,219,625UniSTSGRCh37
Build 36X152,871,616 - 152,872,819RGDNCBI36
CeleraX153,452,132 - 153,453,335RGD
HuRefX141,870,992 - 141,872,195UniSTS
stSG603721  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,219,606 - 153,220,923UniSTSGRCh37
Build 36X152,872,800 - 152,874,117RGDNCBI36
CeleraX153,453,316 - 153,454,633RGD
Cytogenetic MapXq28UniSTS
HuRefX141,872,176 - 141,873,493UniSTS
stSG603722  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,220,904 - 153,222,104UniSTSGRCh37
Build 36X152,874,098 - 152,875,298RGDNCBI36
CeleraX153,454,614 - 153,455,814RGD
Cytogenetic MapXq28UniSTS
HuRefX141,873,474 - 141,874,674UniSTS
stSG603724  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,223,604 - 153,225,059UniSTSGRCh37
Build 36X152,876,798 - 152,878,253RGDNCBI36
CeleraX153,457,314 - 153,458,769RGD
HuRefX141,876,174 - 141,877,629UniSTS
stSG603725  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,225,040 - 153,226,466UniSTSGRCh37
Build 36X152,878,234 - 152,879,660RGDNCBI36
CeleraX153,458,750 - 153,460,176RGD
HuRefX141,877,610 - 141,879,084UniSTS
stSG603726  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,226,616 - 153,227,744UniSTSGRCh37
Build 36X152,879,810 - 152,880,938RGDNCBI36
CeleraX153,460,326 - 153,461,454RGD
stSG603727  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,227,855 - 153,229,084UniSTSGRCh37
Build 36X152,881,049 - 152,882,278RGDNCBI36
CeleraX153,461,565 - 153,462,794RGD
HuRefX141,880,520 - 141,881,749UniSTS
stSG603728  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,229,065 - 153,230,520UniSTSGRCh37
Build 36X152,882,259 - 152,883,714RGDNCBI36
CeleraX153,462,775 - 153,464,230RGD
HuRefX141,881,730 - 141,883,185UniSTS
stSG603729  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,230,501 - 153,231,876UniSTSGRCh37
Build 36X152,883,695 - 152,885,070RGDNCBI36
CeleraX153,464,211 - 153,465,587RGD
HuRefX141,883,166 - 141,884,542UniSTS
stSG603730  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,231,865 - 153,232,989UniSTSGRCh37
Build 36X152,885,059 - 152,886,183RGDNCBI36
CeleraX153,465,576 - 153,466,700RGD
HuRefX141,884,531 - 141,885,655UniSTS
stSG603731  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,232,970 - 153,233,973UniSTSGRCh37
Build 36X152,886,164 - 152,887,167RGDNCBI36
CeleraX153,466,681 - 153,467,684RGD
HuRefX141,885,636 - 141,886,639UniSTS
stSG603732  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,233,967 - 153,235,029UniSTSGRCh37
Build 36X152,887,161 - 152,888,223RGDNCBI36
CeleraX153,467,678 - 153,468,740RGD
HuRefX141,886,633 - 141,887,695UniSTS
G10720  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,213,904 - 153,214,062UniSTSGRCh37
Build 36X152,867,098 - 152,867,256RGDNCBI36
CeleraX153,447,615 - 153,447,773RGD
Cytogenetic MapXq28UniSTS
HuRefX141,866,475 - 141,866,633UniSTS
STS-D20139  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37444,666,225 - 44,666,405UniSTSGRCh37
GRCh37X153,213,176 - 153,213,335UniSTSGRCh37
Build 36X152,866,370 - 152,866,529RGDNCBI36
CeleraX153,446,887 - 153,447,046RGD
Celera445,114,247 - 45,114,427UniSTS
Cytogenetic MapXq28UniSTS
HuRefX141,865,747 - 141,865,906UniSTS
HuRef443,987,887 - 43,988,067UniSTS
GeneMap99-GB4 RH MapX350.95UniSTS
RH70255  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,213,114 - 153,213,195UniSTSGRCh37
Build 36X152,866,308 - 152,866,389RGDNCBI36
CeleraX153,446,825 - 153,446,906RGD
Cytogenetic MapXq28UniSTS
HuRefX141,865,685 - 141,865,766UniSTS
GeneMap99-GB4 RH MapX350.95UniSTS
G54827  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,225,487 - 153,226,130UniSTSGRCh37
CeleraX153,459,197 - 153,459,840UniSTS
Cytogenetic MapXq28UniSTS
G54828  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,227,283 - 153,228,237UniSTSGRCh37
CeleraX153,460,993 - 153,461,947UniSTS
Cytogenetic MapXq28UniSTS
HuRefX141,879,901 - 141,880,902UniSTS
GDB:594111  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,222,894 - 153,223,517UniSTSGRCh37
CeleraX153,456,604 - 153,457,227UniSTS
Cytogenetic MapXq28UniSTS
HuRefX141,875,464 - 141,876,087UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6364
Count of miRNA genes:1086
Interacting mature miRNAs:1325
Transcripts:ENST00000310441, ENST00000354233, ENST00000369984, ENST00000444191, ENST00000461098
Prediction methods:Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2392 1893 1452 357 1361 206 4171 1725 2560 299 1437 1597 164 1184 2619 3
Low 47 1097 274 267 589 259 185 472 1174 120 23 16 11 1 20 169 3 2
Below cutoff 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide BC010606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ655939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX710180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L20010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U52112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X79198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X84221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000310441   ⟹   ENSP00000309555
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,947,557 - 153,971,818 (-)Ensembl
RefSeq Acc Id: ENST00000369984   ⟹   ENSP00000359001
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,947,559 - 153,971,184 (-)Ensembl
RefSeq Acc Id: ENST00000444191   ⟹   ENSP00000399589
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,947,557 - 153,954,121 (-)Ensembl
RefSeq Acc Id: ENST00000461098
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,960,009 - 153,962,267 (-)Ensembl
RefSeq Acc Id: NM_005334   ⟹   NP_005325
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,947,557 - 153,971,818 (-)NCBI
GRCh37X153,213,008 - 153,237,284 (-)NCBI
Build 36X152,866,202 - 152,890,013 (-)NCBI Archive
HuRefX141,865,579 - 141,889,655 (-)ENTREZGENE
CHM1_1X153,087,420 - 153,111,232 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006724815   ⟹   XP_006724878
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,947,556 - 153,972,359 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006724816   ⟹   XP_006724879
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,947,556 - 153,972,358 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531147   ⟹   XP_011529449
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,947,556 - 153,972,359 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531148   ⟹   XP_011529450
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,947,556 - 153,972,358 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029471   ⟹   XP_016884960
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,947,556 - 153,972,360 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029472   ⟹   XP_016884961
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,947,556 - 153,962,306 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005325   ⟸   NM_005334
- UniProtKB: P51610 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006724879   ⟸   XM_006724816
- Peptide Label: isoform X2
- UniProtKB: P51610 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006724878   ⟸   XM_006724815
- Peptide Label: isoform X1
- UniProtKB: A6NEM2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011529450   ⟸   XM_011531148
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011529449   ⟸   XM_011531147
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016884960   ⟸   XM_017029471
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016884961   ⟸   XM_017029472
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: ENSP00000309555   ⟸   ENST00000310441
RefSeq Acc Id: ENSP00000399589   ⟸   ENST00000444191
RefSeq Acc Id: ENSP00000359001   ⟸   ENST00000369984
Protein Domains
Fibronectin type-III

Promoters
RGD ID:6808905
Promoter ID:HG_KWN:68594
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000280573
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,872,351 - 152,873,722 (-)MPROMDB
RGD ID:6808904
Promoter ID:HG_KWN:68595
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000061100
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,880,456 - 152,881,877 (-)MPROMDB
RGD ID:6808753
Promoter ID:HG_KWN:68597
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000354233,   ENST00000369984
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,889,356 - 152,890,972 (-)MPROMDB
RGD ID:6808902
Promoter ID:HG_KWN:68598
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000061099
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,889,936 - 152,890,436 (-)MPROMDB
RGD ID:13628564
Promoter ID:EPDNEW_H29520
Type:initiation region
Name:HCFC1_2
Description:host cell factor C1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29521  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,971,208 - 153,971,268EPDNEW
RGD ID:13628566
Promoter ID:EPDNEW_H29521
Type:initiation region
Name:HCFC1_1
Description:host cell factor C1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29520  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,971,818 - 153,971,878EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005334.3(HCFC1):c.-970T>C single nucleotide variant Mental retardation 3, X-linked [RCV000032896] ChrX:153971810 [GRCh38]
ChrX:153237261 [GRCh37]
ChrX:152890455 [NCBI36]
ChrX:Xq28
pathogenic
NM_005334.3(HCFC1):c.674G>A (p.Ser225Asn) single nucleotide variant Mental retardation 3, X-linked [RCV000032897]|not provided [RCV000059786] ChrX:153963263 [GRCh38]
ChrX:153228714 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_005334.3(HCFC1):c.3344G>T (p.Gly1115Val) single nucleotide variant not provided [RCV000521058] ChrX:153955055 [GRCh38]
ChrX:153220506 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.2313C>T (p.Thr771=) single nucleotide variant not provided [RCV000904712]|not specified [RCV000605580] ChrX:153957354 [GRCh38]
ChrX:153222805 [GRCh37]
ChrX:Xq28
benign|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_005334.3(HCFC1):c.2029-7_2029-6insTAA insertion not provided [RCV000519421] ChrX:153957892..153957893 [GRCh38]
ChrX:153223343..153223344 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val) single nucleotide variant Mental retardation 3, X-linked [RCV000057506] ChrX:153964283 [GRCh38]
ChrX:153229734 [GRCh37]
ChrX:Xq28
pathogenic
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val) single nucleotide variant Cobalamin C disease [RCV001199845]|Intellectual disability [RCV000224133]|Mental retardation 3, X-linked [RCV000057507]|not provided [RCV000224484] ChrX:153964702 [GRCh38]
ChrX:153230153 [GRCh37]
ChrX:Xq28
pathogenic
NM_005334.3(HCFC1):c.217G>A (p.Ala73Thr) single nucleotide variant Mental retardation 3, X-linked [RCV000057508] ChrX:153964703 [GRCh38]
ChrX:153230154 [GRCh37]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xq28(chrX:153929344-154367160)x3 copy number gain See cases [RCV000050852] ChrX:153929344..154367160 [GRCh38]
ChrX:153333946..153595528 [GRCh37]
ChrX:152847991..153248722 [NCBI36]
ChrX:Xq28
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 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 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 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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:153722500-154367160)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|See cases [RCV000052524] ChrX:153722500..154367160 [GRCh38]
ChrX:152641149..153248722 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153769547-154394658)x2 copy number gain See cases [RCV000052525] ChrX:153769547..154394658 [GRCh38]
ChrX:152688196..153276194 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153777340-154397779)x3 copy number gain See cases [RCV000052527] ChrX:153777340..154397779 [GRCh38]
ChrX:153333946..153626120 [GRCh37]
ChrX:152695989..153279314 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153787044-154397779)x2 copy number gain See cases [RCV000052528] ChrX:153787044..154397779 [GRCh38]
ChrX:153333946..153626120 [GRCh37]
ChrX:152705693..153279314 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX: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 Xq28(chrX:153504314-154144797)x2 copy number gain See cases [RCV000052492] ChrX:153504314..154144797 [GRCh38]
ChrX:152422966..153063464 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 copy number gain See cases [RCV000052474] ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:153585420-154427385)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|See cases [RCV000052521] ChrX:153585420..154427385 [GRCh38]
ChrX:152864376..153655730 [GRCh37]
ChrX:152504072..153308924 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153590730-154380801)x2 copy number gain See cases [RCV000052522] ChrX:153590730..154380801 [GRCh38]
ChrX:152864376..153609161 [GRCh37]
ChrX:152509382..153262355 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153714542-154380803)x2 copy number gain See cases [RCV000052523] ChrX:153714542..154380803 [GRCh38]
ChrX:152633191..153262357 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_005334.3(HCFC1):c.4315A>C (p.Asn1439His) single nucleotide variant Mental retardation 3, X-linked [RCV000660486] ChrX:153954084 [GRCh38]
ChrX:153219535 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.5423A>G (p.Lys1808Arg) single nucleotide variant Mental retardation 3, X-linked [RCV001248497] ChrX:153951444 [GRCh38]
ChrX:153216895 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.1200T>C (p.Tyr400=) single nucleotide variant not provided [RCV000081289] ChrX:153960046 [GRCh38]
ChrX:153225497 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.2841A>G (p.Pro947=) single nucleotide variant not specified [RCV000081290] ChrX:153956206 [GRCh38]
ChrX:153221657 [GRCh37]
ChrX:Xq28
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro) single nucleotide variant not specified [RCV000081291] ChrX:153954909 [GRCh38]
ChrX:153220360 [GRCh37]
ChrX:Xq28
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_005334.3(HCFC1):c.3550G>A (p.Gly1184Arg) single nucleotide variant not provided [RCV000081292] ChrX:153954849 [GRCh38]
ChrX:153220300 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=) single nucleotide variant not specified [RCV000081293] ChrX:153954214 [GRCh38]
ChrX:153219665 [GRCh37]
ChrX:Xq28
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=) single nucleotide variant not specified [RCV000081294] ChrX:153950388 [GRCh38]
ChrX:153215839 [GRCh37]
ChrX:Xq28
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_005334.3(HCFC1):c.2283C>G (p.Thr761=) single nucleotide variant not specified [RCV000117213] ChrX:153957384 [GRCh38]
ChrX:153222835 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity
NM_005334.3(HCFC1):c.2886G>A (p.Leu962=) single nucleotide variant not specified [RCV000117214] ChrX:153955513 [GRCh38]
ChrX:153220964 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity
NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr) single nucleotide variant not provided [RCV000117215]|not specified [RCV000599889] ChrX:153955109 [GRCh38]
ChrX:153220560 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_005334.3(HCFC1):c.3568G>A (p.Gly1190Ser) single nucleotide variant Mental retardation 3, X-linked [RCV000948165]|not specified [RCV000117216] ChrX:153954831 [GRCh38]
ChrX:153220282 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity
NM_005334.3(HCFC1):c.4542G>T (p.Leu1514=) single nucleotide variant not specified [RCV000117217] ChrX:153952914 [GRCh38]
ChrX:153218365 [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_005334.3(HCFC1):c.4790C>T (p.Ala1597Val) single nucleotide variant Mental retardation 3, X-linked [RCV001248508] ChrX:153952666 [GRCh38]
ChrX:153218117 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.503+14C>G single nucleotide variant not provided [RCV000514082]|not specified [RCV000613088] ChrX:153964110 [GRCh38]
ChrX:153229561 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.3356C>T (p.Thr1119Ile) single nucleotide variant Inborn genetic diseases [RCV000190805]|not provided [RCV000922964] ChrX:153955043 [GRCh38]
ChrX:153220494 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_005334.3(HCFC1):c.5860G>A (p.Gly1954Arg) single nucleotide variant Inborn genetic diseases [RCV000190708] ChrX:153950387 [GRCh38]
ChrX:153215838 [GRCh37]
ChrX:Xq28
pathogenic
NM_005334.3(HCFC1):c.5468T>C (p.Val1823Ala) single nucleotide variant Mental retardation 3, X-linked [RCV001302901] ChrX:153951399 [GRCh38]
ChrX:153216850 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=) single nucleotide variant Mental retardation 3, X-linked [RCV000638559]|not specified [RCV000174341] ChrX:153957806 [GRCh38]
ChrX:153223257 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity
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)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) single nucleotide variant Mental retardation 3, X-linked [RCV000602586]|not specified [RCV000174905] ChrX:153956670 [GRCh38]
ChrX:153222121 [GRCh37]
ChrX:Xq28
benign|likely benign
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 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq28(chrX:153855152-154092314)x2 copy number gain See cases [RCV000135840] ChrX:153855152..154092314 [GRCh38]
ChrX:152773801..153010966 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 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 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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 Xq28(chrX:153276277-156003242)x3 copy number gain See cases [RCV000137498] ChrX:153276277..156003242 [GRCh38]
ChrX:152465185..155232907 [GRCh37]
ChrX:152118379..154886101 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153667032-154394658)x2 copy number gain See cases [RCV000137536] ChrX:153667032..154394658 [GRCh38]
ChrX:152585681..153276194 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:153813894-154140759)x2 copy number gain See cases [RCV000137153] ChrX:153813894..154140759 [GRCh38]
ChrX:152732543..153059427 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28
pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:153727116-154555423)x2 copy number gain See cases [RCV000138393] ChrX:153727116..154555423 [GRCh38]
ChrX:153333946..153783638 [GRCh37]
ChrX:152645765..153436832 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 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:153813894-154383071)x2 copy number gain See cases [RCV000140524] ChrX:153813894..154383071 [GRCh38]
ChrX:153079349..153611431 [GRCh37]
ChrX:152732543..153264625 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153451351-154230630)x2 copy number gain See cases [RCV000140532] ChrX:153451351..154230630 [GRCh38]
ChrX:152716809..153496099 [GRCh37]
ChrX:152370003..153149293 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153802827-154294817)x2 copy number gain See cases [RCV000140537] ChrX:153802827..154294817 [GRCh38]
ChrX:153068282..153523170 [GRCh37]
ChrX:152721476..153176364 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 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:153861449-154140759)x2 copy number gain See cases [RCV000143114] ChrX:153861449..154140759 [GRCh38]
ChrX:152780098..153059427 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 copy number gain See cases [RCV000143002] ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 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 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
NM_005334.3(HCFC1):c.4545G>A (p.Pro1515=) single nucleotide variant not specified [RCV000153347] ChrX:153952911 [GRCh38]
ChrX:153218362 [GRCh37]
ChrX:Xq28
benign
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_005334.3(HCFC1):c.6042C>T (p.Asn2014=) single nucleotide variant not provided [RCV000153346] ChrX:153949579 [GRCh38]
ChrX:153215030 [GRCh37]
ChrX:Xq28
conflicting interpretations of pathogenicity|uncertain significance
NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala) single nucleotide variant Mental retardation 3, X-linked [RCV000969004]|not specified [RCV000193244] ChrX:153955527 [GRCh38]
ChrX:153220978 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005334.3(HCFC1):c.713-13C>T single nucleotide variant not specified [RCV000178905] ChrX:153962319 [GRCh38]
ChrX:153227770 [GRCh37]
ChrX:Xq28
benign
NM_005334.3(HCFC1):c.905-3C>T single nucleotide variant Mental retardation 3, X-linked [RCV001325203]|not specified [RCV000195219] ChrX:153960417 [GRCh38]
ChrX:153225868 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance
NM_005334.3(HCFC1):c.1047C>G (p.Asn349Lys) single nucleotide variant not provided [RCV000179904] ChrX:153960272 [GRCh38]
ChrX:153225723 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.5664T>G (p.Pro1888=) single nucleotide variant not provided [RCV000176405] ChrX:153950852 [GRCh38]
ChrX:153216303 [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_005334.3(HCFC1):c.3690G>A (p.Ala1230=) single nucleotide variant not specified [RCV000193189] ChrX:153954709 [GRCh38]
ChrX:153220160 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.984C>T (p.Val328=) single nucleotide variant not specified [RCV000193208] ChrX:153960335 [GRCh38]
ChrX:153225786 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.2463T>A (p.Ile821=) single nucleotide variant not specified [RCV000193817] ChrX:153956951 [GRCh38]
ChrX:153222402 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.3126G>A (p.Gln1042=) single nucleotide variant not specified [RCV000194081] ChrX:153955273 [GRCh38]
ChrX:153220724 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.1084+8C>T single nucleotide variant not specified [RCV000194817] ChrX:153960227 [GRCh38]
ChrX:153225678 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=) single nucleotide variant Mental retardation 3, X-linked [RCV000638561]|not specified [RCV000194960] ChrX:153954907 [GRCh38]
ChrX:153220358 [GRCh37]
ChrX:Xq28
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005334.3(HCFC1):c.2691G>A (p.Ala897=) single nucleotide variant not specified [RCV000195023] ChrX:153956356 [GRCh38]
ChrX:153221807 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.5528G>C (p.Gly1843Ala) single nucleotide variant not specified [RCV000194390] ChrX:153950988 [GRCh38]
ChrX:153216439 [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
NM_005334.3(HCFC1):c.5048C>G (p.Pro1683Arg) single nucleotide variant Mental retardation 3, X-linked [RCV000209921] ChrX:153952053 [GRCh38]
ChrX:153217504 [GRCh37]
ChrX:Xq28
pathogenic
NM_005334.3(HCFC1):c.5374G>T (p.Gly1792Cys) single nucleotide variant not provided [RCV000224398] ChrX:153951594 [GRCh38]
ChrX:153217045 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr) single nucleotide variant Mental retardation 3, X-linked [RCV000224972]|not provided [RCV000493756] ChrX:153959817 [GRCh38]
ChrX:153225268 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.3990C>T (p.Thr1330=) single nucleotide variant not provided [RCV000757369] ChrX:153954409 [GRCh38]
ChrX:153219860 [GRCh37]
ChrX:Xq28
likely benign
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 Xq28(chrX:153047627-153555804)x2 copy number gain See cases [RCV000239929] ChrX:153047627..153555804 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152912867-153236360)x2 copy number gain See cases [RCV000239969] ChrX:152912867..153236360 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_005334.3(HCFC1):c.3829G>A (p.Ala1277Thr) single nucleotide variant Inborn genetic diseases [RCV000623828] ChrX:153954570 [GRCh38]
ChrX:153220021 [GRCh37]
ChrX:Xq28
uncertain significance
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 Xq28(chrX:152993910-153555804)x2 copy number gain See cases [RCV000240396] ChrX:152993910..153555804 [GRCh37]
ChrX:Xq28
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:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_005334.3(HCFC1):c.2626G>A (p.Gly876Ser) single nucleotide variant Mental retardation 3, X-linked [RCV001247405]|not provided [RCV000487553] ChrX:153956634 [GRCh38]
ChrX:153222085 [GRCh37]
ChrX:Xq28
conflicting interpretations of pathogenicity|uncertain significance
NM_005334.3(HCFC1):c.1085-12G>A single nucleotide variant not specified [RCV000350506] ChrX:153960173 [GRCh38]
ChrX:153225624 [GRCh37]
ChrX:Xq28
benign
NM_005334.3(HCFC1):c.2144C>T (p.Pro715Leu) single nucleotide variant not provided [RCV000520339] ChrX:153957523 [GRCh38]
ChrX:153222974 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.3853G>A (p.Val1285Met) single nucleotide variant not provided [RCV000638564] ChrX:153954546 [GRCh38]
ChrX:153219997 [GRCh37]
ChrX:Xq28
benign
NM_005334.3(HCFC1):c.1741G>A (p.Ala581Thr) single nucleotide variant not provided [RCV000284130] ChrX:153958631 [GRCh38]
ChrX:153224082 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.4333+11G>T single nucleotide variant not specified [RCV000605212] ChrX:153954055 [GRCh38]
ChrX:153219506 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.2857-23CTC[2] microsatellite not provided [RCV000312798] ChrX:153955557..153955559 [GRCh38]
ChrX:153221008..153221010 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.5300T>G (p.Val1767Gly) single nucleotide variant Inborn genetic diseases [RCV000622815] ChrX:153951668 [GRCh38]
ChrX:153217119 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.4275C>T (p.His1425=) single nucleotide variant not specified [RCV000606850] ChrX:153954124 [GRCh38]
ChrX:153219575 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.4759C>T (p.Leu1587Phe) single nucleotide variant Inborn genetic diseases [RCV000624789] ChrX:153952697 [GRCh38]
ChrX:153218148 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.1722C>T (p.Thr574=) single nucleotide variant not specified [RCV000603325] ChrX:153958650 [GRCh38]
ChrX:153224101 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.4086C>T (p.Thr1362=) single nucleotide variant Kabuki syndrome 1 [RCV000578143] ChrX:153954313 [GRCh38]
ChrX:153219764 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.3892G>A (p.Glu1298Lys) single nucleotide variant Mental retardation 3, X-linked [RCV001314423]|not provided [RCV000522865] ChrX:153954507 [GRCh38]
ChrX:153219958 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.1102G>T (p.Ala368Ser) single nucleotide variant not provided [RCV000585340] ChrX:153960144 [GRCh38]
ChrX:153225595 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.4983_4988del (p.Val1662_Thr1663del) deletion Mental retardation 3, X-linked [RCV001262125]|not provided [RCV000599399] ChrX:153952113..153952118 [GRCh38]
ChrX:153217564..153217569 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.2352G>A (p.Thr784=) single nucleotide variant not specified [RCV000604571] ChrX:153957315 [GRCh38]
ChrX:153222766 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.6005-18C>G single nucleotide variant not specified [RCV000602908] ChrX:153949634 [GRCh38]
ChrX:153215085 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.4981A>G (p.Thr1661Ala) single nucleotide variant not provided [RCV000729776] ChrX:153952120 [GRCh38]
ChrX:153217571 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.4475C>G (p.Pro1492Arg) single nucleotide variant not specified [RCV000412955] ChrX:153953629 [GRCh38]
ChrX:153219080 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:152228560-154930047)x2 copy number gain See cases [RCV000447331] ChrX:152228560..154930047 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:152970475-153524157)x2 copy number gain See cases [RCV000447506] ChrX:152970475..153524157 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:150253008-155233731)x1 copy number loss See cases [RCV000446761] ChrX:150253008..155233731 [GRCh37]
ChrX:Xq28
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
NM_005334.3(HCFC1):c.4159G>A (p.Val1387Met) single nucleotide variant Mental retardation 3, X-linked [RCV001079896]|not provided [RCV000443342]|not specified [RCV000614054] ChrX:153954240 [GRCh38]
ChrX:153219691 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005334.3(HCFC1):c.1605+16T>G single nucleotide variant not specified [RCV000420868] ChrX:153959315 [GRCh38]
ChrX:153224766 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.3255G>A (p.Thr1085=) single nucleotide variant not provided [RCV000937239]|not specified [RCV000423908] ChrX:153955144 [GRCh38]
ChrX:153220595 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_005334.3(HCFC1):c.5298G>A (p.Pro1766=) single nucleotide variant Mental retardation 3, X-linked [RCV001078679]|not provided [RCV000960626]|not specified [RCV000441870] ChrX:153951670 [GRCh38]
ChrX:153217121 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005334.3(HCFC1):c.4464G>A (p.Thr1488=) single nucleotide variant Mental retardation 3, X-linked [RCV000948164]|not specified [RCV000418071] ChrX:153953640 [GRCh38]
ChrX:153219091 [GRCh37]
ChrX:Xq28
benign
NM_005334.3(HCFC1):c.2643G>A (p.Thr881=) single nucleotide variant not specified [RCV000424409] ChrX:153956404 [GRCh38]
ChrX:153221855 [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
NM_005334.3(HCFC1):c.5808C>T (p.Gly1936=) single nucleotide variant not specified [RCV000428167] ChrX:153950439 [GRCh38]
ChrX:153215890 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.4626G>A (p.Glu1542=) single nucleotide variant Mental retardation 3, X-linked [RCV000883327]|not specified [RCV000431822] ChrX:153952830 [GRCh38]
ChrX:153218281 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005334.3(HCFC1):c.5751C>T (p.Ser1917=) single nucleotide variant not specified [RCV000438543] ChrX:153950496 [GRCh38]
ChrX:153215947 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.1804-18C>T single nucleotide variant not specified [RCV000438615] ChrX:153958267 [GRCh38]
ChrX:153223718 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.6004+14G>A single nucleotide variant not specified [RCV000418614] ChrX:153950229 [GRCh38]
ChrX:153215680 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.5340C>A (p.Thr1780=) single nucleotide variant not specified [RCV000438821] ChrX:153951628 [GRCh38]
ChrX:153217079 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.3903C>T (p.Thr1301=) single nucleotide variant not provided [RCV000910760]|not specified [RCV000442489] ChrX:153954496 [GRCh38]
ChrX:153219947 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.1605+20G>T single nucleotide variant not specified [RCV000435401] ChrX:153959311 [GRCh38]
ChrX:153224762 [GRCh37]
ChrX:Xq28
benign
NM_005334.3(HCFC1):c.4725C>T (p.Pro1575=) single nucleotide variant Mental retardation 3, X-linked [RCV000973917]|not specified [RCV000421721] ChrX:153952731 [GRCh38]
ChrX:153218182 [GRCh37]
ChrX:Xq28
benign
NM_005334.3(HCFC1):c.3504C>G (p.Thr1168=) single nucleotide variant not specified [RCV000439248] ChrX:153954895 [GRCh38]
ChrX:153220346 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.1560C>T (p.Pro520=) single nucleotide variant not specified [RCV000442976] ChrX:153959376 [GRCh38]
ChrX:153224827 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile) single nucleotide variant Mental retardation 3, X-linked [RCV001079029]|not provided [RCV000424988]|not specified [RCV000479564] ChrX:153951449 [GRCh38]
ChrX:153216900 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005334.3(HCFC1):c.2382C>A (p.Ser794=) single nucleotide variant Mental retardation 3, X-linked [RCV000638563]|not specified [RCV000436258] ChrX:153957032 [GRCh38]
ChrX:153222483 [GRCh37]
ChrX:Xq28
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_005334.3(HCFC1):c.4881G>A (p.Thr1627=) single nucleotide variant not specified [RCV000436275] ChrX:153952575 [GRCh38]
ChrX:153218026 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.2394C>T (p.Ile798=) single nucleotide variant not specified [RCV000419932] ChrX:153957020 [GRCh38]
ChrX:153222471 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.1119A>G (p.Val373=) single nucleotide variant Mental retardation 3, X-linked [RCV000891074]|not specified [RCV000422700] ChrX:153960127 [GRCh38]
ChrX:153225578 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005334.3(HCFC1):c.1472G>T (p.Gly491Val) single nucleotide variant not specified [RCV000426252] ChrX:153959464 [GRCh38]
ChrX:153224915 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.3757C>T (p.Arg1253Cys) single nucleotide variant Mental retardation 3, X-linked [RCV000885849]|not specified [RCV000429760] ChrX:153954642 [GRCh38]
ChrX:153220093 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005334.3(HCFC1):c.4442C>T (p.Thr1481Met) single nucleotide variant Mental retardation 3, X-linked [RCV000638565]|not specified [RCV000440143] ChrX:153953662 [GRCh38]
ChrX:153219113 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005334.3(HCFC1):c.4984G>A (p.Val1662Met) single nucleotide variant not provided [RCV000443814] ChrX:153952117 [GRCh38]
ChrX:153217568 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.1085-16C>G single nucleotide variant not specified [RCV000422878] ChrX:153960177 [GRCh38]
ChrX:153225628 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.2584G>A (p.Val862Ile) single nucleotide variant not provided [RCV000429898] ChrX:153956676 [GRCh38]
ChrX:153222127 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.6005-12C>G single nucleotide variant not specified [RCV000433362] ChrX:153949628 [GRCh38]
ChrX:153215079 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.6005-12C>T single nucleotide variant not specified [RCV000433373] ChrX:153949628 [GRCh38]
ChrX:153215079 [GRCh37]
ChrX:Xq28
benign
NM_005334.3(HCFC1):c.3018T>C (p.Pro1006=) single nucleotide variant not specified [RCV000440500] ChrX:153955381 [GRCh38]
ChrX:153220832 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.4068C>T (p.Pro1356=) single nucleotide variant Mental retardation 3, X-linked [RCV001088878]|not provided [RCV000969389]|not specified [RCV000423087] ChrX:153954331 [GRCh38]
ChrX:153219782 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005334.3(HCFC1):c.2787C>T (p.Ile929=) single nucleotide variant Mental retardation 3, X-linked [RCV000970564]|not specified [RCV000444476] ChrX:153956260 [GRCh38]
ChrX:153221711 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005334.3(HCFC1):c.1445-14C>T single nucleotide variant not specified [RCV000423437] ChrX:153959505 [GRCh38]
ChrX:153224956 [GRCh37]
ChrX:Xq28
benign
NM_005334.3(HCFC1):c.5517C>T (p.Asp1839=) single nucleotide variant not specified [RCV000434101] ChrX:153951350 [GRCh38]
ChrX:153216801 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.4182G>A (p.Ala1394=) single nucleotide variant not provided [RCV000927588]|not specified [RCV000441139] ChrX:153954217 [GRCh38]
ChrX:153219668 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.3794C>T (p.Ser1265Leu) single nucleotide variant Mental retardation 3, X-linked [RCV001080457]|not provided [RCV000441909]|not specified [RCV000613623] ChrX:153954605 [GRCh38]
ChrX:153220056 [GRCh37]
ChrX:Xq28
benign|likely benign
GRCh37/hg19 Xq28(chrX:152886474-153368990)x2 copy number gain See cases [RCV000448796] ChrX:152886474..153368990 [GRCh37]
ChrX:Xq28
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 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_005334.3(HCFC1):c.2974G>A (p.Ala992Thr) single nucleotide variant Mental retardation 3, X-linked [RCV001089332]|not provided [RCV000514364] ChrX:153955425 [GRCh38]
ChrX:153220876 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005334.3(HCFC1):c.1781_1803+3delinsCA indel not provided [RCV000486422] ChrX:153958566..153958591 [GRCh38]
ChrX:153224017..153224042 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance
NM_005334.3(HCFC1):c.5997G>T (p.Trp1999Cys) single nucleotide variant not provided [RCV000486458] ChrX:153950250 [GRCh38]
ChrX:153215701 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.4619C>T (p.Thr1540Ile) single nucleotide variant not provided [RCV000766506]|not specified [RCV000482310] ChrX:153952837 [GRCh38]
ChrX:153218288 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.4910C>T (p.Ala1637Val) single nucleotide variant not provided [RCV000478950] ChrX:153952546 [GRCh38]
ChrX:153217997 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.1122C>T (p.Arg374=) single nucleotide variant not provided [RCV000904097]|not specified [RCV000501063] ChrX:153960124 [GRCh38]
ChrX:153225575 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 copy number gain See cases [RCV000510478] ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28
pathogenic
NM_005334.3(HCFC1):c.2289C>T (p.Pro763=) single nucleotide variant not specified [RCV000503529] ChrX:153957378 [GRCh38]
ChrX:153222829 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.3846G>A (p.Ser1282=) single nucleotide variant not specified [RCV000503750] ChrX:153954553 [GRCh38]
ChrX:153220004 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.3270C>T (p.Thr1090=) single nucleotide variant not specified [RCV000503991] ChrX:153955129 [GRCh38]
ChrX:153220580 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.1251C>T (p.Val417=) single nucleotide variant not specified [RCV000504035] ChrX:153959995 [GRCh38]
ChrX:153225446 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.4722A>C (p.Pro1574=) single nucleotide variant not specified [RCV000499415] ChrX:153952734 [GRCh38]
ChrX:153218185 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.1214C>T (p.Thr405Met) single nucleotide variant not specified [RCV000499852] ChrX:153960032 [GRCh38]
ChrX:153225483 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.2604C>T (p.Ala868=) single nucleotide variant not specified [RCV000502145] ChrX:153956656 [GRCh38]
ChrX:153222107 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.1461C>T (p.Leu487=) single nucleotide variant not specified [RCV000502570] ChrX:153959475 [GRCh38]
ChrX:153224926 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.717C>G (p.Thr239=) single nucleotide variant Mental retardation 3, X-linked [RCV000974787]|not specified [RCV000502520] ChrX:153962302 [GRCh38]
ChrX:153227753 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005334.3(HCFC1):c.1692A>G (p.Ala564=) single nucleotide variant not specified [RCV000500475] ChrX:153958680 [GRCh38]
ChrX:153224131 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.4594G>A (p.Ala1532Thr) single nucleotide variant not specified [RCV000502967] ChrX:153952862 [GRCh38]
ChrX:153218313 [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_005334.3(HCFC1):c.3465G>A (p.Ala1155=) single nucleotide variant not specified [RCV000500679] ChrX:153954934 [GRCh38]
ChrX:153220385 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
NM_005334.3(HCFC1):c.2542A>G (p.Thr848Ala) single nucleotide variant not provided [RCV000494599] ChrX:153956718 [GRCh38]
ChrX:153222169 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
NM_005334.3(HCFC1):c.4576G>A (p.Ala1526Thr) single nucleotide variant Mental retardation 3, X-linked [RCV000766079]|not specified [RCV000507069] ChrX:153952880 [GRCh38]
ChrX:153218331 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_005334.3(HCFC1):c.5491C>T (p.Pro1831Ser) single nucleotide variant not provided [RCV000492897] ChrX:153951376 [GRCh38]
ChrX:153216827 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_005334.3(HCFC1):c.4969G>A (p.Glu1657Lys) single nucleotide variant not provided [RCV000493062] ChrX:153952132 [GRCh38]
ChrX:153217583 [GRCh37]
ChrX:Xq28
uncertain significance
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: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
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 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 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_005334.3(HCFC1):c.2636-16G>T single nucleotide variant not specified [RCV000603182] ChrX:153956427 [GRCh38]
ChrX:153221878 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.5261-17A>G single nucleotide variant not specified [RCV000605541] ChrX:153951724 [GRCh38]
ChrX:153217175 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq28(chrX:153138672-153665655) copy number gain Microcytic anemia [RCV000626549] ChrX:153138672..153665655 [GRCh37]
ChrX:Xq28
pathogenic
NM_005334.3(HCFC1):c.3342G>A (p.Thr1114=) single nucleotide variant not specified [RCV000603271] ChrX:153955057 [GRCh38]
ChrX:153220508 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.5276A>G (p.Asn1759Ser) single nucleotide variant Mental retardation 3, X-linked [RCV000892959]|not specified [RCV000606981] ChrX:153951692 [GRCh38]
ChrX:153217143 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005334.3(HCFC1):c.2232G>A (p.Ala744=) single nucleotide variant Mental retardation 3, X-linked [RCV000638562] ChrX:153957435 [GRCh38]
ChrX:153222886 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.4911G>A (p.Ala1637=) single nucleotide variant not specified [RCV000615116] ChrX:153952545 [GRCh38]
ChrX:153217996 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.5958C>T (p.Arg1986=) single nucleotide variant Mental retardation 3, X-linked [RCV000904711]|not specified [RCV000612508] ChrX:153950289 [GRCh38]
ChrX:153215740 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005334.3(HCFC1):c.3117A>G (p.Gly1039=) single nucleotide variant not specified [RCV000615853] ChrX:153955282 [GRCh38]
ChrX:153220733 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.2817A>T (p.Thr939=) single nucleotide variant Mental retardation 3, X-linked [RCV000920930]|not specified [RCV000602012] ChrX:153956230 [GRCh38]
ChrX:153221681 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.4041T>G (p.Gly1347=) single nucleotide variant not specified [RCV000607410] ChrX:153954358 [GRCh38]
ChrX:153219809 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.3963A>G (p.Pro1321=) single nucleotide variant not specified [RCV000610345] ChrX:153954436 [GRCh38]
ChrX:153219887 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.4218G>A (p.Ala1406=) single nucleotide variant not provided [RCV000925828]|not specified [RCV000616246] ChrX:153954181 [GRCh38]
ChrX:153219632 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.3381C>T (p.Val1127=) single nucleotide variant Mental retardation 3, X-linked [RCV000909461]|not specified [RCV000616391] ChrX:153955018 [GRCh38]
ChrX:153220469 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_005334.3(HCFC1):c.1728C>T (p.Ile576=) single nucleotide variant not specified [RCV000613441] ChrX:153958644 [GRCh38]
ChrX:153224095 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.3943A>C (p.Arg1315=) single nucleotide variant not specified [RCV000610738] ChrX:153954456 [GRCh38]
ChrX:153219907 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.2856+15G>A single nucleotide variant not specified [RCV000613672] ChrX:153956176 [GRCh38]
ChrX:153221627 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.5601C>T (p.Ala1867=) single nucleotide variant Mental retardation 3, X-linked [RCV000638560]|not specified [RCV000613758] ChrX:153950915 [GRCh38]
ChrX:153216366 [GRCh37]
ChrX:Xq28
benign
NM_005334.3(HCFC1):c.2589C>T (p.Ser863=) single nucleotide variant not specified [RCV000608374] ChrX:153956671 [GRCh38]
ChrX:153222122 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.3585G>A (p.Pro1195=) single nucleotide variant not specified [RCV000608567] ChrX:153954814 [GRCh38]
ChrX:153220265 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.4089T>C (p.Thr1363=) single nucleotide variant not specified [RCV000614098] ChrX:153954310 [GRCh38]
ChrX:153219761 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.380C>T (p.Thr127Met) single nucleotide variant not specified [RCV000608858] ChrX:153964247 [GRCh38]
ChrX:153229698 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.5949C>T (p.Ile1983=) single nucleotide variant not specified [RCV000614416] ChrX:153950298 [GRCh38]
ChrX:153215749 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.-25C>G single nucleotide variant not specified [RCV000614506] ChrX:153970865 [GRCh38]
ChrX:153236316 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.4942+9C>T single nucleotide variant not specified [RCV000609194] ChrX:153952505 [GRCh38]
ChrX:153217956 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.1084+18G>T single nucleotide variant not specified [RCV000611823] ChrX:153960217 [GRCh38]
ChrX:153225668 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.3636C>T (p.Ala1212=) single nucleotide variant not specified [RCV000611901] ChrX:153954763 [GRCh38]
ChrX:153220214 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.3615C>T (p.Ser1205=) single nucleotide variant Mental retardation 3, X-linked [RCV000907145]|not specified [RCV000614618] ChrX:153954784 [GRCh38]
ChrX:153220235 [GRCh37]
ChrX:Xq28
benign
NM_005334.3(HCFC1):c.2592C>T (p.Ala864=) single nucleotide variant not specified [RCV000614665] ChrX:153956668 [GRCh38]
ChrX:153222119 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.503+3G>A single nucleotide variant not specified [RCV000614673] ChrX:153964121 [GRCh38]
ChrX:153229572 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq28(chrX:152899437-153624564)x2 copy number gain See cases [RCV000512403] ChrX:152899437..153624564 [GRCh37]
ChrX:Xq28
pathogenic
NM_005334.3(HCFC1):c.5517+16T>A single nucleotide variant not specified [RCV000600176] ChrX:153951334 [GRCh38]
ChrX:153216785 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.5260+17G>C single nucleotide variant not specified [RCV000600475] ChrX:153951824 [GRCh38]
ChrX:153217275 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NC_000023.10:g.(?_153128098)_(153599633_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000645140] ChrX:153128098..153599633 [GRCh37]
ChrX:Xq28
pathogenic
NM_005334.3(HCFC1):c.4947C>T (p.Thr1649=) single nucleotide variant not provided [RCV000513072] ChrX:153952154 [GRCh38]
ChrX:153217605 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.4001C>T (p.Thr1334Ile) single nucleotide variant Inborn genetic diseases [RCV000623608] ChrX:153954398 [GRCh38]
ChrX:153219849 [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
NM_005334.3(HCFC1):c.2992G>A (p.Asp998Asn) single nucleotide variant not provided [RCV000658053] ChrX:153955407 [GRCh38]
ChrX:153220858 [GRCh37]
ChrX:Xq28
uncertain significance
Single allele duplication not provided [RCV000677999] ChrX:152912867..153236360 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:152628304-153594168)x2 copy number gain not provided [RCV000684738] ChrX:152628304..153594168 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152941302-153438781)x3 copy number gain not provided [RCV000684739] ChrX:152941302..153438781 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq28(chrX:153123907-153431401)x2 copy number gain not provided [RCV000684741] ChrX:153123907..153431401 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_152954010)_(153599633_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000707841] ChrX:152954010..153599633 [GRCh37]
ChrX:Xq28
pathogenic
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly) single nucleotide variant Mental retardation 3, X-linked [RCV000706024] ChrX:153954246 [GRCh38]
ChrX:153219697 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_153128823)_(153416424_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000708432] ChrX:153128823..153416424 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153128118)_(153416424_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000707765] ChrX:153128118..153416424 [GRCh37]
ChrX:Xq28
pathogenic
NM_005334.3(HCFC1):c.1427C>T (p.Thr476Ile) single nucleotide variant Mental retardation 3, X-linked [RCV000696305] ChrX:153959819 [GRCh38]
ChrX:153225270 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_153170600)_(153409869_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000708104] ChrX:153170600..153409869 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153184286)_(153409869_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000708531] ChrX:153184286..153409869 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:152806628-153626649)x2 copy number gain not provided [RCV000753922] ChrX:152806628..153626649 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153184816-153626794)x3 copy number gain not provided [RCV000753930] ChrX:153184816..153626794 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] 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
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_005334.3(HCFC1):c.3180G>T (p.Val1060=) single nucleotide variant not provided [RCV000917014] ChrX:153955219 [GRCh38]
ChrX:153220670 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_005334.3(HCFC1):c.4026G>A (p.Thr1342=) single nucleotide variant not provided [RCV000906947] ChrX:153954373 [GRCh38]
ChrX:153219824 [GRCh37]
ChrX:Xq28
benign
NM_005334.3(HCFC1):c.3459T>C (p.Thr1153=) single nucleotide variant Mental retardation 3, X-linked [RCV000921522] ChrX:153954940 [GRCh38]
ChrX:153220391 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.3930A>T (p.Ala1310=) single nucleotide variant not provided [RCV000901612] ChrX:153954469 [GRCh38]
ChrX:153219920 [GRCh37]
ChrX:Xq28
benign
NM_005334.3(HCFC1):c.4263C>A (p.Pro1421=) single nucleotide variant Mental retardation 3, X-linked [RCV000903361] ChrX:153954136 [GRCh38]
ChrX:153219587 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.4158C>T (p.Thr1386=) single nucleotide variant not provided [RCV000898504] ChrX:153954241 [GRCh38]
ChrX:153219692 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.2667C>T (p.Thr889=) single nucleotide variant Mental retardation 3, X-linked [RCV000899606] ChrX:153956380 [GRCh38]
ChrX:153221831 [GRCh37]
ChrX:Xq28
benign
NM_005334.3(HCFC1):c.4260C>G (p.Pro1420=) single nucleotide variant Mental retardation 3, X-linked [RCV000945281] ChrX:153954139 [GRCh38]
ChrX:153219590 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.4773A>G (p.Leu1591=) single nucleotide variant Mental retardation 3, X-linked [RCV000914947] ChrX:153952683 [GRCh38]
ChrX:153218134 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.5490G>A (p.Leu1830=) single nucleotide variant Mental retardation 3, X-linked [RCV000882333] ChrX:153951377 [GRCh38]
ChrX:153216828 [GRCh37]
ChrX:Xq28
benign
NM_005334.3(HCFC1):c.1842C>T (p.Ala614=) single nucleotide variant not provided [RCV000966322] ChrX:153958211 [GRCh38]
ChrX:153223662 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.3103G>C (p.Ala1035Pro) single nucleotide variant not provided [RCV000905314] ChrX:153955296 [GRCh38]
ChrX:153220747 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.237C>A (p.Pro79=) single nucleotide variant not provided [RCV000898839] ChrX:153964683 [GRCh38]
ChrX:153230134 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.2346C>T (p.Gly782=) single nucleotide variant not provided [RCV000902207] ChrX:153957321 [GRCh38]
ChrX:153222772 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.3228G>A (p.Ser1076=) single nucleotide variant not provided [RCV000944655] ChrX:153955171 [GRCh38]
ChrX:153220622 [GRCh37]
ChrX:Xq28
benign
NM_005334.3(HCFC1):c.4117G>A (p.Val1373Met) single nucleotide variant Mental retardation 3, X-linked [RCV000884806] ChrX:153954282 [GRCh38]
ChrX:153219733 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq28(chrX:153174571-153609996) copy number gain Syndromic X-linked intellectual disability Lubs type [RCV000767661] ChrX:153174571..153609996 [GRCh37]
ChrX:Xq28
pathogenic
NM_005334.3(HCFC1):c.5276A>C (p.Asn1759Thr) single nucleotide variant Mental retardation 3, X-linked [RCV001069603] ChrX:153951692 [GRCh38]
ChrX:153217143 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_152954010)_(153363142_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV001033929] ChrX:152954010..153363142 [GRCh37]
ChrX:Xq28
pathogenic
NM_005334.3(HCFC1):c.2668G>A (p.Val890Ile) single nucleotide variant Mental retardation 3, X-linked [RCV001059874] ChrX:153956379 [GRCh38]
ChrX:153221830 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.5087_5089AGC[5] (p.Gln1699dup) microsatellite not provided [RCV000996052] ChrX:153952002..153952003 [GRCh38]
ChrX:153217453..153217454 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.4735C>G (p.Gln1579Glu) single nucleotide variant not provided [RCV000996053] ChrX:153952721 [GRCh38]
ChrX:153218172 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.4497+4A>G single nucleotide variant not provided [RCV000996054] ChrX:153953603 [GRCh38]
ChrX:153219054 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.4426G>A (p.Val1476Met) single nucleotide variant not provided [RCV000996055] ChrX:153953678 [GRCh38]
ChrX:153219129 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.3211G>A (p.Val1071Met) single nucleotide variant not provided [RCV000996056] ChrX:153955188 [GRCh38]
ChrX:153220639 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.1606-13G>A single nucleotide variant not provided [RCV000826295] ChrX:153958779 [GRCh38]
ChrX:153224230 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_005334.3(HCFC1):c.4245G>A (p.Arg1415=) single nucleotide variant Mental retardation 3, X-linked [RCV000880816] ChrX:153954154 [GRCh38]
ChrX:153219605 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.4696G>A (p.Val1566Met) single nucleotide variant Mental retardation 3, X-linked [RCV000880846] ChrX:153952760 [GRCh38]
ChrX:153218211 [GRCh37]
ChrX:Xq28
benign
NM_005334.3(HCFC1):c.2566C>T (p.Leu856=) single nucleotide variant Mental retardation 3, X-linked [RCV000981510] ChrX:153956694 [GRCh38]
ChrX:153222145 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.579C>T (p.Tyr193=) single nucleotide variant Mental retardation 3, X-linked [RCV000930911] ChrX:153963358 [GRCh38]
ChrX:153228809 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.4296G>A (p.Thr1432=) single nucleotide variant Mental retardation 3, X-linked [RCV000901402] ChrX:153954103 [GRCh38]
ChrX:153219554 [GRCh37]
ChrX:Xq28
benign
NM_005334.3(HCFC1):c.1980C>T (p.Thr660=) single nucleotide variant not provided [RCV000979644] ChrX:153958073 [GRCh38]
ChrX:153223524 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.4266T>C (p.Cys1422=) single nucleotide variant Mental retardation 3, X-linked [RCV000945280] ChrX:153954133 [GRCh38]
ChrX:153219584 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.648C>G (p.Ser216=) single nucleotide variant not provided [RCV000896494] ChrX:153963289 [GRCh38]
ChrX:153228740 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.3579T>C (p.Leu1193=) single nucleotide variant not provided [RCV000901239] ChrX:153954820 [GRCh38]
ChrX:153220271 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.1698G>A (p.Thr566=) single nucleotide variant Mental retardation 3, X-linked [RCV000941048] ChrX:153958674 [GRCh38]
ChrX:153224125 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.1803+7G>A single nucleotide variant not provided [RCV000919143] ChrX:153958562 [GRCh38]
ChrX:153224013 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.5613C>T (p.Ala1871=) single nucleotide variant not provided [RCV000894911] ChrX:153950903 [GRCh38]
ChrX:153216354 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.504-9C>T single nucleotide variant not provided [RCV000926078] ChrX:153963442 [GRCh38]
ChrX:153228893 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NC_000023.10:g.(?_152954020)_(154096327_?)del deletion Adrenoleukodystrophy [RCV000815921] ChrX:152954020..154096327 [GRCh37]
ChrX:Xq28
pathogenic
NM_005334.3(HCFC1):c.3695G>A (p.Arg1232His) single nucleotide variant Mental retardation 3, X-linked [RCV000814705] ChrX:153954704 [GRCh38]
ChrX:153220155 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.5391_5393GCC[1] (p.Pro1801del) microsatellite Mental retardation 3, X-linked [RCV000821246]|not provided [RCV001093006] ChrX:153951471..153951473 [GRCh38]
ChrX:153216922..153216924 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.3563C>T (p.Ser1188Leu) single nucleotide variant Mental retardation 3, X-linked [RCV000821405] ChrX:153954836 [GRCh38]
ChrX:153220287 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.2029-17C>T single nucleotide variant not provided [RCV000842654] ChrX:153957903 [GRCh38]
ChrX:153223354 [GRCh37]
ChrX:Xq28
likely benign
NC_000023.10:g.(?_153128108)_(153609567_?)dup duplication Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000795425] ChrX:153128108..153609567 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.2134-20C>A single nucleotide variant not provided [RCV000827012] ChrX:153957553 [GRCh38]
ChrX:153223004 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.797+247T>C single nucleotide variant not provided [RCV000830710] ChrX:153961975 [GRCh38]
ChrX:153227426 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
NM_005334.3(HCFC1):c.1407C>T (p.Gly469=) single nucleotide variant not provided [RCV000841906] ChrX:153959839 [GRCh38]
ChrX:153225290 [GRCh37]
ChrX:Xq28
likely benign
NC_000023.10:g.(?_153137587)_(153363142_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000794134] ChrX:153137587..153363142 [GRCh37]
ChrX:Xq28
pathogenic
NM_005334.3(HCFC1):c.3231C>T (p.Asn1077=) single nucleotide variant not provided [RCV000842461] ChrX:153955168 [GRCh38]
ChrX:153220619 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.4942+11G>A single nucleotide variant not provided [RCV000842468] ChrX:153952503 [GRCh38]
ChrX:153217954 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
NC_000023.10:g.(?_153128098)_(153363142_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000801357] ChrX:153128098..153363142 [GRCh37]
ChrX:Xq28
pathogenic
NM_005334.3(HCFC1):c.3975C>T (p.His1325=) single nucleotide variant not provided [RCV000840109] ChrX:153954424 [GRCh38]
ChrX:153219875 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.4109C>T (p.Ser1370Leu) single nucleotide variant Mental retardation 3, X-linked [RCV000824315] ChrX:153954290 [GRCh38]
ChrX:153219741 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.6069-4C>T single nucleotide variant not provided [RCV000917327] ChrX:153949390 [GRCh38]
ChrX:153214841 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.2029-9C>G single nucleotide variant not provided [RCV000898445] ChrX:153957895 [GRCh38]
ChrX:153223346 [GRCh37]
ChrX:Xq28
benign
NC_000023.10:g.(?_152990712)_(153650075_?)del deletion Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000823256] ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28
pathogenic
NM_005334.3(HCFC1):c.4242G>C (p.Gln1414His) single nucleotide variant Mental retardation 3, X-linked [RCV000810818] ChrX:153954157 [GRCh38]
ChrX:153219608 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.4815G>A (p.Thr1605=) single nucleotide variant Mental retardation 3, X-linked [RCV000817195] ChrX:153952641 [GRCh38]
ChrX:153218092 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.1085-22C>G single nucleotide variant not provided [RCV000835624] ChrX:153960183 [GRCh38]
ChrX:153225634 [GRCh37]
ChrX:Xq28
benign
NM_005334.3(HCFC1):c.1986C>T (p.Thr662=) single nucleotide variant Mental retardation 3, X-linked [RCV000981626] ChrX:153958067 [GRCh38]
ChrX:153223518 [GRCh37]
ChrX:Xq28
benign
NM_005334.3(HCFC1):c.333C>T (p.Tyr111=) single nucleotide variant Mental retardation 3, X-linked [RCV000916133] ChrX:153964587 [GRCh38]
ChrX:153230038 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq28(chrX:153154008-153624566)x2 copy number gain not provided [RCV000846110] ChrX:153154008..153624566 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153105400-153438105)x2 copy number gain not provided [RCV000846316] ChrX:153105400..153438105 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 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
NM_005334.3(HCFC1):c.4520C>T (p.Ser1507Leu) single nucleotide variant Mental retardation 3, X-linked [RCV001227255] ChrX:153952936 [GRCh38]
ChrX:153218387 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.73delinsCCAC (p.Trp25delinsProArg) indel Mental retardation 3, X-linked [RCV001239235] ChrX:153970768 [GRCh38]
ChrX:153236219 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.1689G>A (p.Ser563=) single nucleotide variant Mental retardation 3, X-linked [RCV001223620] ChrX:153958683 [GRCh38]
ChrX:153224134 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.712+6C>T single nucleotide variant Mental retardation 3, X-linked [RCV001228849] ChrX:153963219 [GRCh38]
ChrX:153228670 [GRCh37]
ChrX:Xq28
uncertain significance
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 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_005334.3(HCFC1):c.979G>A (p.Ala327Thr) single nucleotide variant not provided [RCV000996057] ChrX:153960340 [GRCh38]
ChrX:153225791 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.2436G>A (p.Ala812=) single nucleotide variant not provided [RCV000902634] ChrX:153956978 [GRCh38]
ChrX:153222429 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.4125C>T (p.Ala1375=) single nucleotide variant not provided [RCV000927685] ChrX:153954274 [GRCh38]
ChrX:153219725 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.5769C>T (p.Tyr1923=) single nucleotide variant not provided [RCV000976069] ChrX:153950478 [GRCh38]
ChrX:153215929 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.2973C>T (p.Thr991=) single nucleotide variant not provided [RCV000938356] ChrX:153955426 [GRCh38]
ChrX:153220877 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.3279C>T (p.Thr1093=) single nucleotide variant not provided [RCV000930007] ChrX:153955120 [GRCh38]
ChrX:153220571 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.3951C>T (p.Cys1317=) single nucleotide variant not provided [RCV000940194] ChrX:153954448 [GRCh38]
ChrX:153219899 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.1398G>A (p.Thr466=) single nucleotide variant Mental retardation 3, X-linked [RCV001037014] ChrX:153959848 [GRCh38]
ChrX:153225299 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.4334A>G (p.Asp1445Gly) single nucleotide variant Mental retardation 3, X-linked [RCV001043818] ChrX:153953770 [GRCh38]
ChrX:153219221 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.2555G>T (p.Gly852Val) single nucleotide variant not provided [RCV001093008] ChrX:153956705 [GRCh38]
ChrX:153222156 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.1309G>A (p.Val437Met) single nucleotide variant Mental retardation 3, X-linked [RCV001228108] ChrX:153959937 [GRCh38]
ChrX:153225388 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.5397C>A (p.Pro1799=) single nucleotide variant Mental retardation 3, X-linked [RCV000913412]|not provided [RCV001171653] ChrX:153951470 [GRCh38]
ChrX:153216921 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.2316C>T (p.Ile772=) single nucleotide variant not provided [RCV000912213] ChrX:153957351 [GRCh38]
ChrX:153222802 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.5784C>T (p.Ala1928=) single nucleotide variant not provided [RCV000912374] ChrX:153950463 [GRCh38]
ChrX:153215914 [GRCh37]
ChrX:Xq28
likely benign
NM_005334.3(HCFC1):c.3495G>C (p.Gln1165His) single nucleotide variant Mental retardation 3, X-linked [RCV001043826] ChrX:153954904 [GRCh38]
ChrX:153220355 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_005334.3(HCFC1):c.3596G>A (p.Arg1199Gln) single nucleotide variant not provided [RCV001093007] ChrX:153954803 [GRCh38]
ChrX:153220254 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153023149-153345755)x2 copy number gain not provided [RCV001007367] ChrX:153023149..153345755 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_005334.3(HCFC1):c.4733C>T (p.Thr1578Ile) single nucleotide variant Mental retardation 3, X-linked [RCV001231378] ChrX:153952723 [GRCh38]
ChrX:153218174 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153029046-153567369)x3 copy number gain not provided [RCV001007368] ChrX:153029046..153567369 [GRCh37]
ChrX:Xq28
pathogenic
NM_005334.3(HCFC1):c.4423A>G (p.Thr1475Ala) single nucleotide variant Mental retardation 3, X-linked [RCV001205455] ChrX:153953681 [GRCh38]
ChrX:153219132 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.3249C>T (p.His1083=) single nucleotide variant not provided [RCV001200552] ChrX:153955150 [GRCh38]
ChrX:153220601 [GRCh37]
ChrX:Xq28
likely benign
NC_000023.10:g.(?_152990712)_(153650075_?)dup duplication Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001031812] ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.3317A>C (p.Asn1106Thr) single nucleotide variant Mental retardation 3, X-linked [RCV001232383] ChrX:153955082 [GRCh38]
ChrX:153220533 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.3409C>T (p.Arg1137Trp) single nucleotide variant Mental retardation 3, X-linked [RCV001064227] ChrX:153954990 [GRCh38]
ChrX:153220441 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:152516781-153368573)x2 copy number gain not provided [RCV001007365] ChrX:152516781..153368573 [GRCh37]
ChrX:Xq28
pathogenic
NM_005334.3(HCFC1):c.4381G>C (p.Gly1461Arg) single nucleotide variant Inborn genetic diseases [RCV001267009] ChrX:153953723 [GRCh38]
ChrX:153219174 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=) single nucleotide variant Mental retardation 3, X-linked [RCV001334385] ChrX:153952890 [GRCh38]
ChrX:153218341 [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
NM_005334.3(HCFC1):c.748G>A (p.Val250Met) single nucleotide variant Inborn genetic diseases [RCV001266994] ChrX:153962271 [GRCh38]
ChrX:153227722 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.958C>T (p.Arg320Cys) single nucleotide variant Intellectual disability [RCV001260715] ChrX:153960361 [GRCh38]
ChrX:153225812 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.722C>T (p.Thr241Met) single nucleotide variant Inborn genetic diseases [RCV001265667] ChrX:153962297 [GRCh38]
ChrX:153227748 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.101A>C (p.His34Pro) single nucleotide variant Intellectual disability [RCV001260714] ChrX:153970740 [GRCh38]
ChrX:153236191 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.5945G>A (p.Arg1982His) single nucleotide variant Neurodevelopmental abnormality [RCV001264675] ChrX:153950302 [GRCh38]
ChrX:153215753 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153113943-153624215)x2 copy number gain not provided [RCV001260058] ChrX:153113943..153624215 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153135257-153594096)x3 copy number gain not provided [RCV001260059] ChrX:153135257..153594096 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152631130-153240286)x3 copy number gain not provided [RCV001260062] ChrX:152631130..153240286 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.3646A>T (p.Ser1216Cys) single nucleotide variant Inborn genetic diseases [RCV001266288] ChrX:153954753 [GRCh38]
ChrX:153220204 [GRCh37]
ChrX:Xq28
uncertain significance
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_005334.3(HCFC1):c.1030C>T (p.Arg344Cys) single nucleotide variant Mental retardation 3, X-linked [RCV001262751] ChrX:153960289 [GRCh38]
ChrX:153225740 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.3674T>C (p.Ile1225Thr) single nucleotide variant Mental retardation 3, X-linked [RCV001329391] ChrX:153954725 [GRCh38]
ChrX:153220176 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_005334.3(HCFC1):c.3730C>T (p.Arg1244Cys) single nucleotide variant Mental retardation 3, X-linked [RCV001291690] ChrX:153954669 [GRCh38]
ChrX:153220120 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.3791G>C (p.Gly1264Ala) single nucleotide variant Mental retardation 3, X-linked [RCV001337188] ChrX:153954608 [GRCh38]
ChrX:153220059 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.1697C>T (p.Thr566Met) single nucleotide variant Mental retardation 3, X-linked [RCV001329390] ChrX:153958675 [GRCh38]
ChrX:153224126 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.4687G>A (p.Gly1563Ser) single nucleotide variant Mental retardation 3, X-linked [RCV001327000] ChrX:153952769 [GRCh38]
ChrX:153218220 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.5420A>G (p.Lys1807Arg) single nucleotide variant Mental retardation 3, X-linked [RCV001320668] ChrX:153951447 [GRCh38]
ChrX:153216898 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.477C>T (p.Ser159=) single nucleotide variant Mental retardation 3, X-linked [RCV001347763] ChrX:153964150 [GRCh38]
ChrX:153229601 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.4499C>T (p.Pro1500Leu) single nucleotide variant Mental retardation 3, X-linked [RCV001345485] ChrX:153952957 [GRCh38]
ChrX:153218408 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.4291C>T (p.His1431Tyr) single nucleotide variant Mental retardation 3, X-linked [RCV001329392] ChrX:153954108 [GRCh38]
ChrX:153219559 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.5698A>G (p.Ser1900Gly) single nucleotide variant Mental retardation 3, X-linked [RCV001329394] ChrX:153950818 [GRCh38]
ChrX:153216269 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.3257G>A (p.Gly1086Asp) single nucleotide variant Mental retardation 3, X-linked [RCV001291632] ChrX:153955142 [GRCh38]
ChrX:153220593 [GRCh37]
ChrX:Xq28
uncertain significance
NM_005334.3(HCFC1):c.5053G>A (p.Val1685Met) single nucleotide variant Mental retardation 3, X-linked [RCV001329393] ChrX:153952048 [GRCh38]
ChrX:153217499 [GRCh37]
ChrX:Xq28
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4839 AgrOrtholog
COSMIC HCFC1 COSMIC
Ensembl Genes ENSG00000172534 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000309555 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000359001 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000399589 UniProtKB/TrEMBL
Ensembl Transcript ENST00000310441 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000369984 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000444191 UniProtKB/TrEMBL
Gene3D-CATH 2.120.10.80 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000172534 GTEx
HGNC ID HGNC:4839 ENTREZGENE
Human Proteome Map HCFC1 Human Proteome Map
InterPro FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HCF1 UniProtKB/TrEMBL
  HCF1/2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HCFC1 UniProtKB/Swiss-Prot
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kelch-typ_b-propeller UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kelch_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3054 UniProtKB/Swiss-Prot
NCBI Gene 3054 ENTREZGENE
OMIM 300019 OMIM
  309541 OMIM
PANTHER PTHR46003 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR46003:SF3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Kelch_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29215 PharmGKB
PROSITE FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF117281 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A6NEM2 ENTREZGENE, UniProtKB/TrEMBL
  H7C1C4_HUMAN UniProtKB/TrEMBL
  HCFC1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q05C05_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q6P4G5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 HCFC1  host cell factor C1  MRX3  mental retardation, X-linked 3  Data Merged 737654 PROVISIONAL
2014-06-17 HCFC1  host cell factor C1    host cell factor C1 (VP16-accessory protein)  Symbol and/or name change 5135510 APPROVED
2011-08-16 HCFC1  host cell factor C1 (VP16-accessory protein)  HCFC1  host cell factor C1 (VP16-accessory protein)  Symbol and/or name change 5135510 APPROVED