AMELX (amelogenin X-linked) - Rat Genome Database

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Gene: AMELX (amelogenin X-linked) Homo sapiens
Analyze
Symbol: AMELX
Name: amelogenin X-linked
RGD ID: 735379
HGNC Page HGNC
Description: A structural constituent of tooth enamel. Involved in enamel mineralization. Localizes to collagen-containing extracellular matrix. Implicated in amelogenesis imperfecta and amelogenesis imperfecta type 1E.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AI1E; AIH1; ALGN; amelogenesis imperfecta 1; amelogenin (amelogenesis imperfecta 1, X-linked); amelogenin (X chromosome, amelogenesis imperfecta 1); amelogenin, X isoform; amelogenin, X-linked; AMG; AMGL; AMGX
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX11,293,413 - 11,300,761 (+)EnsemblGRCh38hg38GRCh38
GRCh38X11,293,413 - 11,304,149 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X11,311,533 - 11,318,881 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X11,221,454 - 11,228,802 (+)NCBINCBI36hg18NCBI36
CeleraX15,438,990 - 15,446,338 (+)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX9,091,155 - 9,098,355 (+)NCBIHuRef
CHM1_1X11,342,001 - 11,349,349 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:1483698   PMID:1734713   PMID:1916828   PMID:2004775   PMID:2059881   PMID:2509010   PMID:2737677   PMID:7782077   PMID:8118759   PMID:8254123   PMID:9041053   PMID:11839357  
PMID:11852235   PMID:11877393   PMID:11922868   PMID:11922869   PMID:12477932   PMID:12613657   PMID:15111628   PMID:15489334   PMID:15772651   PMID:16674683   PMID:17645864   PMID:17688372  
PMID:18029348   PMID:18042988   PMID:18067069   PMID:18434575   PMID:18701806   PMID:18714142   PMID:18781068   PMID:19025992   PMID:19083859   PMID:19913121   PMID:19966041   PMID:20012165  
PMID:20628086   PMID:20929860   PMID:21081224   PMID:21114591   PMID:21514271   PMID:23251683   PMID:23525533   PMID:23733431   PMID:23790503   PMID:23948316   PMID:24167599   PMID:25117480  
PMID:25122764   PMID:25791822   PMID:26545753   PMID:26551370   PMID:26762641   PMID:28052096   PMID:28382465   PMID:28395292   PMID:28801830   PMID:29802703   PMID:31185186   PMID:31838295  


Genomics

Comparative Map Data
AMELX
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX11,293,413 - 11,300,761 (+)EnsemblGRCh38hg38GRCh38
GRCh38X11,293,413 - 11,304,149 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X11,311,533 - 11,318,881 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X11,221,454 - 11,228,802 (+)NCBINCBI36hg18NCBI36
CeleraX15,438,990 - 15,446,338 (+)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX9,091,155 - 9,098,355 (+)NCBIHuRef
CHM1_1X11,342,001 - 11,349,349 (+)NCBICHM1_1
Amelx
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X167,959,110 - 167,970,205 (-)NCBIGRCm39mm39
GRCm39 EnsemblX167,959,110 - 167,970,196 (-)Ensembl
GRCm38X169,176,114 - 169,187,209 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX169,176,114 - 169,187,200 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X165,614,046 - 165,625,141 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X164,524,127 - 164,531,314 (-)NCBImm8
CeleraX152,339,918 - 152,351,218 (-)NCBICelera
Cytogenetic MapXF5NCBI
cM MapX78.95NCBI
Amelx
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X25,076,362 - 25,087,660 (+)NCBI
Rnor_6.0 EnsemblX26,439,197 - 26,450,495 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X26,439,197 - 26,450,495 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X26,843,989 - 26,855,287 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X45,763,451 - 45,769,374 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X45,816,919 - 45,822,842 (+)NCBI
CeleraX25,496,279 - 25,507,557 (+)NCBICelera
Cytogenetic MapXq13NCBI
Amelx
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555441,969,216 - 1,979,063 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555441,974,889 - 1,979,063 (-)NCBIChiLan1.0ChiLan1.0
AMELX
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X11,214,103 - 11,221,443 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX11,214,103 - 11,221,443 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X3,898,819 - 3,930,686 (+)NCBIMhudiblu_PPA_v0panPan3
AMELX
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X7,822,513 - 7,828,692 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX7,822,859 - 7,830,351 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX7,779,650 - 7,787,144 (+)NCBI
ROS_Cfam_1.0X7,776,327 - 7,783,824 (+)NCBI
UMICH_Zoey_3.1X7,759,322 - 7,766,816 (+)NCBI
UNSW_CanFamBas_1.0X7,795,375 - 7,802,872 (+)NCBI
UU_Cfam_GSD_1.0X7,790,231 - 7,797,728 (+)NCBI
Amelx
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X1,168,483 - 1,174,166 (+)NCBI
SpeTri2.0NW_0049364701,169,906 - 1,174,166 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AMELX
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX8,055,780 - 8,073,744 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X8,055,246 - 8,063,457 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X8,669,948 - 8,677,620 (+)NCBISscrofa10.2Sscrofa10.2susScr3
AMELX
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X9,927,740 - 9,934,104 (+)NCBI
ChlSab1.1 EnsemblX9,741,594 - 9,745,776 (+)NCBI
Vero_WHO_p1.0NW_02366605611,535,786 - 11,539,980 (+)NCBI
Amelx
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248823,072,970 - 3,083,832 (-)NCBI

Position Markers
RH79902  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,317,122 - 11,317,314UniSTSGRCh37
Build 36X11,227,043 - 11,227,235RGDNCBI36
CeleraX15,444,579 - 15,444,771RGD
Cytogenetic MapXp22.31-p22.1UniSTS
Cytogenetic MapXp22.3UniSTS
HuRefX9,096,745 - 9,096,937UniSTS
GDB:677393  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,315,324 - 11,315,473UniSTSGRCh37
Build 36X11,225,245 - 11,225,394RGDNCBI36
CeleraX15,442,781 - 15,442,930RGD
Cytogenetic MapXp22.31-p22.1UniSTS
Cytogenetic MapXp22.3UniSTS
HuRefX9,094,947 - 9,095,096UniSTS
G42692  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,316,604 - 11,316,668UniSTSGRCh37
GRCh37Y6,736,503 - 6,736,567UniSTSGRCh37
Build 36X11,226,525 - 11,226,589RGDNCBI36
CeleraX15,444,061 - 15,444,125RGD
CeleraY2,479,480 - 2,479,544UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic MapXp22.31-p22.1UniSTS
HuRefX9,096,227 - 9,096,291UniSTS
HuRefY4,295,557 - 4,295,621UniSTS
GDB:371402  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,316,279 - 11,316,650UniSTSGRCh37
Build 36X11,226,200 - 11,226,571RGDNCBI36
CeleraX15,443,736 - 15,444,107RGD
Cytogenetic MapXp22.31-p22.1UniSTS
Cytogenetic MapXp22.3UniSTS
HuRefX9,095,902 - 9,096,273UniSTS
GDB:574117  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,312,849 - 11,313,028UniSTSGRCh37
Build 36X11,222,770 - 11,222,949RGDNCBI36
CeleraX15,440,306 - 15,440,485RGD
Cytogenetic MapXp22.31-p22.1UniSTS
Cytogenetic MapXp22.3UniSTS
HuRefX9,092,472 - 9,092,651UniSTS
GDB:574121  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,314,737 - 11,315,050UniSTSGRCh37
Build 36X11,224,658 - 11,224,971RGDNCBI36
CeleraX15,442,194 - 15,442,507RGD
Cytogenetic MapXp22.31-p22.1UniSTS
Cytogenetic MapXp22.3UniSTS
HuRefX9,094,360 - 9,094,673UniSTS
GDB:574132  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,316,059 - 11,316,524UniSTSGRCh37
GRCh37Y6,736,647 - 6,737,115UniSTSGRCh37
Build 36X11,225,980 - 11,226,445RGDNCBI36
CeleraX15,443,516 - 15,443,981RGD
CeleraY2,478,932 - 2,479,400UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic MapXp22.31-p22.1UniSTS
HuRefX9,095,682 - 9,096,147UniSTS
HuRefY4,295,701 - 4,296,169UniSTS
GDB:574144  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,316,632 - 11,317,187UniSTSGRCh37
Build 36X11,226,553 - 11,227,108RGDNCBI36
CeleraX15,444,089 - 15,444,644RGD
Cytogenetic MapXp22.31-p22.1UniSTS
Cytogenetic MapXp22.3UniSTS
HuRefX9,096,255 - 9,096,810UniSTS
GDB:574146  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,317,520 - 11,318,872UniSTSGRCh37
Build 36X11,227,441 - 11,228,793RGDNCBI36
CeleraX15,444,977 - 15,446,329RGD
Cytogenetic MapXp22.31-p22.1UniSTS
Cytogenetic MapXp22.3UniSTS
RH46956  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X11,317,385 - 11,317,515UniSTSGRCh37
Build 36X11,227,306 - 11,227,436RGDNCBI36
CeleraX15,444,842 - 15,444,972RGD
Cytogenetic MapXp22.31-p22.1UniSTS
Cytogenetic MapXp22.3UniSTS
GeneMap99-GB4 RH MapX83.98UniSTS
NCBI RH MapX10.0UniSTS
AMELX  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y6,736,086 - 6,736,302UniSTSGRCh37
GRCh37X11,316,869 - 11,317,085UniSTSGRCh37
Build 36X11,226,790 - 11,227,006RGDNCBI36
CeleraY2,479,745 - 2,479,961UniSTS
CeleraX15,444,326 - 15,444,542RGD
HuRefY4,295,140 - 4,295,356UniSTS
HuRefX9,096,492 - 9,096,708UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:332
Count of miRNA genes:129
Interacting mature miRNAs:132
Transcripts:ENST00000348912, ENST00000380712, ENST00000380714
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 adipose tissue appendage
High 1
Medium 2
Low 53 3 2 25 4 4 35 3 153 5 1 3
Below cutoff 628 518 360 57 158 33 1035 580 1085 91 549 443 27 368 732

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NG_012494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_182680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_182681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC002366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF436849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY040206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU168848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M55418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M86932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S67147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U76890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X14440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000348912   ⟹   ENSP00000335312
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,293,413 - 11,300,753 (+)Ensembl
RefSeq Acc Id: ENST00000380712   ⟹   ENSP00000370088
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,293,413 - 11,300,761 (+)Ensembl
RefSeq Acc Id: ENST00000380714   ⟹   ENSP00000370090
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX11,293,413 - 11,300,761 (+)Ensembl
RefSeq Acc Id: NM_001142   ⟹   NP_001133
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X11,293,413 - 11,300,761 (+)NCBI
GRCh37X11,311,533 - 11,318,881 (+)ENTREZGENE
Build 36X11,221,454 - 11,228,802 (+)NCBI Archive
HuRefX9,091,155 - 9,098,355 (+)ENTREZGENE
CHM1_1X11,342,001 - 11,349,349 (+)NCBI
Sequence:
RefSeq Acc Id: NM_182680   ⟹   NP_872621
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X11,293,413 - 11,300,761 (+)NCBI
GRCh37X11,311,533 - 11,318,881 (+)ENTREZGENE
Build 36X11,221,454 - 11,228,802 (+)NCBI Archive
HuRefX9,091,155 - 9,098,355 (+)ENTREZGENE
CHM1_1X11,342,001 - 11,349,349 (+)NCBI
Sequence:
RefSeq Acc Id: NM_182681   ⟹   NP_872622
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X11,293,413 - 11,300,761 (+)NCBI
GRCh37X11,311,533 - 11,318,881 (+)ENTREZGENE
Build 36X11,221,454 - 11,228,802 (+)NCBI Archive
HuRefX9,091,155 - 9,098,355 (+)ENTREZGENE
CHM1_1X11,342,001 - 11,349,349 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029404   ⟹   XP_016884893
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X11,293,620 - 11,304,149 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_872621   ⟸   NM_182680
- Peptide Label: isoform 3
- UniProtKB: Q99217 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001133   ⟸   NM_001142
- Peptide Label: isoform 1 precursor
- UniProtKB: Q99217 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_872622   ⟸   NM_182681
- Peptide Label: isoform 2
- UniProtKB: Q99217 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884893   ⟸   XM_017029404
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000335312   ⟸   ENST00000348912
RefSeq Acc Id: ENSP00000370090   ⟸   ENST00000380714
RefSeq Acc Id: ENSP00000370088   ⟸   ENST00000380712

Promoters
RGD ID:13604730
Promoter ID:EPDNEW_H28549
Type:single initiation site
Name:AMELX_1
Description:amelogenin, X-linked
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X11,293,413 - 11,293,473EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000023.10:g.11285049_11381288del deletion Amelogenesis imperfecta, type 1E, with snow-capped teeth [RCV000033862] ChrX:11266933..11363172 [GRCh38]
ChrX:11285049..11381288 [GRCh37]
ChrX:Xp22.2
pathogenic
NG_012494.1:g.363924_416577delinsA indel Amelogenesis imperfecta, type 1E, with snow-capped teeth [RCV000033863] ChrX:Xp22.3-p22.1 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_001287242.1(ARHGAP6):c.49-45951_49-41228del deletion Amelogenesis imperfecta, type 1E [RCV000011886] ChrX:11295938..11300658 [GRCh38]
ChrX:11314058..11318778 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001142.2(AMELX):c.113del (p.Pro38fs) deletion Amelogenesis imperfecta, type 1E [RCV000011887] ChrX:11298243 [GRCh38]
ChrX:11316363 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001142.2(AMELX):c.14_22del (p.Ile5_Ala8delinsThr) deletion Amelogenesis imperfecta, type 1E [RCV000011888] ChrX:11294802..11294810 [GRCh38]
ChrX:11312922..11312930 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001142.2(AMELX):c.431del (p.Pro144fs) deletion Amelogenesis imperfecta, type 1E [RCV000011889] ChrX:11298833 [GRCh38]
ChrX:11316953 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001142.2(AMELX):c.110C>T (p.Thr37Ile) single nucleotide variant Amelogenesis imperfecta, type 1E [RCV000011890] ChrX:11298243 [GRCh38]
ChrX:11316363 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001142.2(AMELX):c.529G>T (p.Glu177Ter) single nucleotide variant Amelogenesis imperfecta, type 1E [RCV000011891] ChrX:11298932 [GRCh38]
ChrX:11317052 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001142.2(AMELX):c.166C>A (p.Pro56Thr) single nucleotide variant Amelogenesis imperfecta, type 1E [RCV000011892] ChrX:11298569 [GRCh38]
ChrX:11316689 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001142.2(AMELX):c.499del (p.Leu167fs) deletion Amelogenesis imperfecta, type 1E [RCV000011893] ChrX:11298899 [GRCh38]
ChrX:11317019 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001142.2(AMELX):c.378del (p.Tyr127fs) deletion Amelogenesis imperfecta, type 1E [RCV000011894] ChrX:11298779 [GRCh38]
ChrX:11316899 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001142.2(AMELX):c.2T>C (p.Met1Thr) single nucleotide variant Amelogenesis imperfecta, type 1E [RCV000011895] ChrX:11294790 [GRCh38]
ChrX:11312910 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001142.2(AMELX):c.11G>C (p.Trp4Ser) single nucleotide variant Amelogenesis imperfecta, type 1E [RCV000011896] ChrX:11294799 [GRCh38]
ChrX:11312919 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:6837101-13719231)x3 copy number gain See cases [RCV000052360] ChrX:6837101..13719231 [GRCh38]
ChrX:6755142..13737350 [GRCh37]
ChrX:6765142..13647271 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:7992018-14435892)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052361]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052361]|See cases [RCV000052361] ChrX:7992018..14435892 [GRCh38]
ChrX:7960059..14454014 [GRCh37]
ChrX:7920059..14363935 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9038047-16646589)x2 copy number gain See cases [RCV000052362] ChrX:9038047..16646589 [GRCh38]
ChrX:9006088..16664712 [GRCh37]
ChrX:8966088..16574633 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9540020-13128124)x1 copy number loss See cases [RCV000053057] ChrX:9540020..13128124 [GRCh38]
ChrX:9508060..13146243 [GRCh37]
ChrX:9468060..13056164 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:3057092-13615172)x1 copy number loss See cases [RCV000053026] ChrX:3057092..13615172 [GRCh38]
ChrX:2975133..13633291 [GRCh37]
ChrX:2985133..13543212 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-11803947)x1 copy number loss See cases [RCV000052968] ChrX:10679..11803947 [GRCh38]
ChrX:60679..11822066 [GRCh37]
ChrX:679..11731987 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10679-21811030)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] ChrX:10679..21811030 [GRCh38]
ChrX:60679..21829148 [GRCh37]
ChrX:679..21739069 [NCBI36]
ChrX:Xp22.33-22.12
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.2(chrX:11240104-11903527)x3 copy number gain See cases [RCV000054141] ChrX:11240104..11903527 [GRCh38]
ChrX:11258224..11921646 [GRCh37]
ChrX:11168145..11831567 [NCBI36]
ChrX:Xp22.2
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_001142.2(AMELX):c.129G>C (p.Gln43His) single nucleotide variant X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 [RCV000083240] ChrX:11298262 [GRCh38]
ChrX:11316382 [GRCh37]
ChrX:Xp22.2
not provided
NM_001142.2(AMELX):c.131G>A (p.Ser44Asn) single nucleotide variant X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 [RCV000083241] ChrX:11298264 [GRCh38]
ChrX:11316384 [GRCh37]
ChrX:Xp22.2
not provided
NM_001142.2(AMELX):c.132C>A (p.Ser44Arg) single nucleotide variant X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 [RCV000083242] ChrX:11298265 [GRCh38]
ChrX:11316385 [GRCh37]
ChrX:Xp22.2
not provided
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:4082541-12772302)x2 copy number gain See cases [RCV000135636] ChrX:4082541..12772302 [GRCh38]
ChrX:4000582..12790421 [GRCh37]
ChrX:4010582..12700342 [NCBI36]
ChrX:Xp22.33-22.2
likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.2(chrX:11111956-11413717)x2 copy number gain See cases [RCV000135605] ChrX:11111956..11413717 [GRCh38]
ChrX:11130076..11431837 [GRCh37]
ChrX:11039997..11341758 [NCBI36]
ChrX:Xp22.2
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:2936461-17287323)x2 copy number gain See cases [RCV000135895] ChrX:2936461..17287323 [GRCh38]
ChrX:2854502..17305446 [GRCh37]
ChrX:2864502..17215367 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-16187419)x1 copy number loss See cases [RCV000137252] ChrX:10679..16187419 [GRCh38]
ChrX:60679..16205542 [GRCh37]
ChrX:679..16115463 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3 copy number gain See cases [RCV000137383] ChrX:10701..21866242 [GRCh38]
ChrX:60701..21884360 [GRCh37]
ChrX:701..21794281 [NCBI36]
ChrX:Xp22.33-22.12
uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.2(chrX:11071625-11718694)x3 copy number gain See cases [RCV000138002] ChrX:11071625..11718694 [GRCh38]
ChrX:11089745..11736814 [GRCh37]
ChrX:10999666..11646735 [NCBI36]
ChrX:Xp22.2
uncertain significance
GRCh38/hg38 Xp22.31-22.2(chrX:9239101-16721153)x1 copy number loss See cases [RCV000137753] ChrX:9239101..16721153 [GRCh38]
ChrX:9207141..16739276 [GRCh37]
ChrX:9167141..16649197 [NCBI36]
ChrX:Xp22.31-22.2
uncertain significance
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:253124-12931344)x1 copy number loss See cases [RCV000138680] ChrX:253124..12931344 [GRCh38]
ChrX:169791..12949463 [GRCh37]
ChrX:109791..12859384 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.2(chrX:11106727-11718694)x3 copy number gain See cases [RCV000139913] ChrX:11106727..11718694 [GRCh38]
ChrX:11124847..11736814 [GRCh37]
ChrX:11034768..11646735 [NCBI36]
ChrX:Xp22.2
likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:251879-16967290)x1 copy number loss See cases [RCV000142053] ChrX:251879..16967290 [GRCh38]
ChrX:168546..16985413 [GRCh37]
ChrX:108546..16895334 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392) copy number gain not provided [RCV000767802] ChrX:801301..23768392 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:71267-12032064)x1 copy number loss See cases [RCV000240338] ChrX:71267..12032064 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
NM_001142.2(AMELX):c.219C>T (p.His73=) single nucleotide variant not specified [RCV000250301] ChrX:11298622 [GRCh38]
ChrX:11316742 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2(chrX:11258243-14177713)x1 copy number loss See cases [RCV000448381] ChrX:11258243..14177713 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2
pathogenic
GRCh37/hg19 Xp22.2(chrX:10810471-11339263)x3 copy number gain See cases [RCV000511422] ChrX:10810471..11339263 [GRCh37]
ChrX:Xp22.2
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001142.2(AMELX):c.280G>A (p.Val94Met) single nucleotide variant Inborn genetic diseases [RCV000623827] ChrX:11298683 [GRCh38]
ChrX:11316803 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:168546-16404364)x1 copy number loss not provided [RCV000684181] ChrX:168546..16404364 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3 copy number gain not provided [RCV000684187] ChrX:201704..20682168 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-18601364)x1 copy number loss not provided [RCV000684182] ChrX:168546..18601364 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1 copy number loss not provided [RCV000684183] ChrX:168546..23785738 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.2(chrX:10989343-11572991)x3 copy number gain not provided [RCV000753380] ChrX:10989343..11572991 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11
likely pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Primary amenorrhea [RCV000754474] ChrX:11249664..11996670 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001142.2(AMELX):c.436G>T (p.Val146Leu) single nucleotide variant not provided [RCV000901771] ChrX:11298839 [GRCh38]
ChrX:11316959 [GRCh37]
ChrX:Xp22.2
benign
NM_001142.2(AMELX):c.336C>A (p.Ile112=) single nucleotide variant not provided [RCV000923680] ChrX:11298739 [GRCh38]
ChrX:11316859 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2 copy number gain not provided [RCV001007235] ChrX:1240318..20986848 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
NM_001142.2(AMELX):c.539C>A (p.Pro180Gln) single nucleotide variant not provided [RCV000921606] ChrX:11298942 [GRCh38]
ChrX:11317062 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.33-22.2(chrX:2703632-14129100)x2 copy number gain not provided [RCV000847649] ChrX:2703632..14129100 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
NM_001142.2(AMELX):c.143del (p.Pro48fs) deletion Amelogenesis imperfecta [RCV000789003] ChrX:11298275 [GRCh38]
ChrX:11316395 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 copy number gain not provided [RCV000849574] ChrX:2190434..23795839 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
NM_001142.2(AMELX):c.144+8G>C single nucleotide variant not provided [RCV000918480] ChrX:11298285 [GRCh38]
ChrX:11316405 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.33-22.13(chrX:168546-17502124)x1 copy number loss not provided [RCV001007200] ChrX:168546..17502124 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
NM_001142.2(AMELX):c.474G>A (p.Leu158=) single nucleotide variant not provided [RCV000911252] ChrX:11298877 [GRCh38]
ChrX:11316997 [GRCh37]
ChrX:Xp22.2
benign
NM_001142.2(AMELX):c.570G>C (p.Val190=) single nucleotide variant not provided [RCV000935106] ChrX:11298973 [GRCh38]
ChrX:11317093 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.2(chrX:10478359-15357092)x3 copy number gain not provided [RCV001259461] ChrX:10478359..15357092 [GRCh37]
ChrX:Xp22.2
likely pathogenic
GRCh37/hg19 Xp22.2(chrX:10578932-11326337)x2 copy number gain See cases [RCV001264398] ChrX:10578932..11326337 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:461 AgrOrtholog
COSMIC AMELX COSMIC
Ensembl Genes ENSG00000125363 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000335312 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000370088 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000370090 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000348912 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000380712 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000380714 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000125363 GTEx
HGNC ID HGNC:461 ENTREZGENE
Human Proteome Map AMELX Human Proteome Map
InterPro Amelogenin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:265 UniProtKB/Swiss-Prot
NCBI Gene 265 ENTREZGENE
OMIM 300391 OMIM
  301200 OMIM
PANTHER PTHR46794 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24766 PharmGKB
PRINTS AMELOGENIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Amelogenin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt AMELX_HUMAN UniProtKB/Swiss-Prot
  B2BY28_HUMAN UniProtKB/TrEMBL
  Q99217 ENTREZGENE
UniProt Secondary Q96NW6 UniProtKB/Swiss-Prot
  Q9UCA7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-01 AMELX  amelogenin X-linked  AMELX  amelogenin, X-linked  Symbol and/or name change 5135510 APPROVED
2011-07-27 AMELX  amelogenin, X-linked  AMELX  amelogenin (amelogenesis imperfecta 1, X-linked)  Symbol and/or name change 5135510 APPROVED