ARSL (arylsulfatase L) - Rat Genome Database

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Gene: ARSL (arylsulfatase L) Homo sapiens
Analyze
Symbol: ARSL
Name: arylsulfatase L
RGD ID: 1312633
HGNC Page HGNC
Description: Predicted to have arylsulfatase activity. Predicted to be involved in skeletal system development. Localizes to Golgi apparatus. Implicated in X-linked chondrodysplasia punctata 1 and chondrodysplasia punctata.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ARSE; arylsulfatase E; arylsulfatase E (chondrodysplasia punctata 1); ASE; CDPX; CDPX1; CDPXR; chondrodysplasia punctata 1; MGC163310
RGD Orthologs
Rat
Chinchilla
Bonobo
Dog
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: ARSLP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX2,934,521 - 2,968,475 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX2,934,045 - 2,968,475 (-)EnsemblGRCh38hg38GRCh38
GRCh38X2,934,521 - 2,968,245 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X2,852,562 - 2,886,286 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X2,862,673 - 2,892,494 (-)NCBINCBI36hg18NCBI36
Build 34X2,846,212 - 2,875,672NCBI
CeleraX7,132,912 - 7,162,720 (-)NCBI
Cytogenetic MapXp22.33NCBI
HuRefX795,878 - 825,985 (-)NCBIHuRef
CHM1_1X2,883,876 - 2,917,560 (-)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

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal bronchus morphology  (IAGP)
Abnormal enzyme/coenzyme activity  (IAGP)
Abnormal ossification involving the femoral head and neck  (IAGP)
Abnormality of hyoid bone  (IAGP)
Abnormality of the costochondral junction  (IAGP)
Abnormality of the vertebral column  (IAGP)
Anosmia  (IAGP)
Asthma  (IAGP)
Atlantoaxial instability  (IAGP)
Atrial septal defect  (IAGP)
Broad nasal tip  (IAGP)
Butterfly vertebrae  (IAGP)
C1-C2 subluxation  (IAGP)
Calcaneal epiphyseal stippling  (IAGP)
Cataract  (IAGP)
Central apnea  (IAGP)
Cervical cord compression  (IAGP)
Cervical kyphosis  (IAGP)
Cervical spinal canal stenosis  (IAGP)
Cervical spine instability  (IAGP)
Cervical vertebral dysplasia  (IAGP)
Coronal cleft vertebrae  (IAGP)
Depressed nasal bridge  (IAGP)
Depressed nasal ridge  (IAGP)
Epiphyseal stippling  (IAGP)
Epiphyseal stippling of toe phalanges  (IAGP)
Feeding difficulties  (IAGP)
Gastroesophageal reflux  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hypogonadism  (IAGP)
Hypoplasia of the anterior nasal spine  (IAGP)
Hypoplastic cervical vertebrae  (IAGP)
Ichthyosis  (IAGP)
Laryngeal calcification  (IAGP)
Microcephaly  (IAGP)
Mixed hearing impairment  (IAGP)
Nasal obstruction  (IAGP)
Neonatal respiratory distress  (IAGP)
Optic disc hypoplasia  (IAGP)
Optic nerve hypoplasia  (IAGP)
Patent ductus arteriosus  (IAGP)
Postnatal growth retardation  (IAGP)
Proportionate short stature  (IAGP)
Psychomotor retardation  (IAGP)
Pulmonary artery stenosis  (IAGP)
Punctate vertebral calcifications  (IAGP)
Recurrent respiratory infections  (IAGP)
Respiratory failure requiring assisted ventilation  (IAGP)
Schizophrenia  (IAGP)
Short columella  (IAGP)
Short distal phalanx of finger  (IAGP)
Short distal phalanx of toe  (IAGP)
Short nasal septum  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Stippling of the epiphyses of the distal phalanges of the hand  (IAGP)
Tachypnea  (IAGP)
Thick nasal alae  (IAGP)
Tracheal calcification  (IAGP)
Tracheal stenosis  (IAGP)
Ventricular septal defect  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:7720070   PMID:8125298   PMID:8845834   PMID:9192838   PMID:9497243   PMID:11177574   PMID:11260213   PMID:12477932   PMID:12567415   PMID:15146197   PMID:15342556   PMID:16169070  
PMID:16344560   PMID:16470742   PMID:18348268   PMID:19056867   PMID:19839041   PMID:20301713   PMID:21873635   PMID:21998595   PMID:22021425   PMID:23462608   PMID:23470839   PMID:25366798  
PMID:33845483  


Genomics

Comparative Map Data
ARSL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX2,934,521 - 2,968,475 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX2,934,045 - 2,968,475 (-)EnsemblGRCh38hg38GRCh38
GRCh38X2,934,521 - 2,968,245 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X2,852,562 - 2,886,286 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X2,862,673 - 2,892,494 (-)NCBINCBI36hg18NCBI36
Build 34X2,846,212 - 2,875,672NCBI
CeleraX7,132,912 - 7,162,720 (-)NCBI
Cytogenetic MapXp22.33NCBI
HuRefX795,878 - 825,985 (-)NCBIHuRef
CHM1_1X2,883,876 - 2,917,560 (-)NCBICHM1_1
Arse
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22119,038,803 - 119,047,579 (+)NCBI
Rnor_6.0 Ensembl2122,877,286 - 122,884,360 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.02122,876,645 - 122,884,673 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02142,502,520 - 142,510,533 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42122,663,037 - 122,670,111 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12122,607,698 - 122,615,073 (+)NCBI
Celera2113,999,909 - 114,006,983 (+)NCBICelera
Cytogenetic Map2q25NCBI
Arsl
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554991,747,649 - 1,773,110 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554991,751,663 - 1,773,112 (-)NCBIChiLan1.0ChiLan1.0
ARSL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X2,886,341 - 2,919,343 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX2,858,431 - 2,919,756 (-)Ensemblpanpan1.1panPan2
ARSL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X1,536,341 - 1,558,782 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX1,487,983 - 1,505,477 (-)NCBI
ROS_Cfam_1.0X1,460,818 - 1,482,675 (-)NCBI
UMICH_Zoey_3.1X1,451,938 - 1,469,433 (-)NCBI
UNSW_CanFamBas_1.0X1,468,119 - 1,485,593 (-)NCBI
UU_Cfam_GSD_1.0X1,504,849 - 1,522,307 (-)NCBI
ARSE
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX107,992 - 155,864 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X131,769 - 156,083 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
ARSL
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X1,141,316 - 1,168,690 (-)NCBI
Arsl
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248341,307,539 - 1,331,411 (-)NCBI

Position Markers
RH75499  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y14,468,004 - 14,468,236UniSTSGRCh37
GRCh37X2,852,861 - 2,853,093UniSTSGRCh37
Build 36X2,862,861 - 2,863,093RGDNCBI36
CeleraX7,133,100 - 7,133,332UniSTS
CeleraX1,444,971 - 1,445,203RGD
Cytogenetic MapXp22.3UniSTS
Cytogenetic MapYq11.21UniSTS
HuRefX796,066 - 796,298UniSTS
HuRefY9,113,993 - 9,114,225UniSTS
RH66804  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y14,467,950 - 14,468,071UniSTSGRCh37
GRCh37X2,853,026 - 2,853,147UniSTSGRCh37
Build 36X2,863,026 - 2,863,147RGDNCBI36
CeleraX7,133,265 - 7,133,386UniSTS
CeleraX1,444,917 - 1,445,038RGD
Cytogenetic MapXp22.3UniSTS
Cytogenetic MapYq11.21UniSTS
HuRefX796,231 - 796,352UniSTS
HuRefY9,113,939 - 9,114,060UniSTS
G42688  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X2,873,470 - 2,873,543UniSTSGRCh37
Build 36X2,883,470 - 2,883,543RGDNCBI36
CeleraX7,153,696 - 7,153,769RGD
Cytogenetic MapXp22.3UniSTS
HuRefX816,862 - 816,935UniSTS
ARSE_7749  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y14,467,928 - 14,468,393UniSTSGRCh37
GRCh37X2,852,703 - 2,853,169UniSTSGRCh37
Build 36X2,862,703 - 2,863,169RGDNCBI36
CeleraX7,132,942 - 7,133,408UniSTS
CeleraX1,444,895 - 1,445,360RGD
HuRefX795,908 - 796,374UniSTS
HuRefY9,113,917 - 9,114,382UniSTS
GDB:595763  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp22.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1289
Count of miRNA genes:617
Interacting mature miRNAs:661
Transcripts:ENST00000381134, ENST00000438544, ENST00000483425, ENST00000496095, ENST00000540563, ENST00000545496
Prediction methods:Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 361 3 401 401 52 404 207 1 105 266 74 53 82
Low 1890 913 294 118 174 45 1057 841 3024 108 905 450 78 1 178 781 2
Below cutoff 161 1670 983 100 796 12 2707 1018 571 33 437 952 92 958 1615 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW779826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP272004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP272164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN270432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA915010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB073314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HX786884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X83573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000381134   ⟹   ENSP00000370526
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,934,521 - 2,964,341 (-)Ensembl
RefSeq Acc Id: ENST00000438544   ⟹   ENSP00000406528
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,949,623 - 2,964,264 (-)Ensembl
RefSeq Acc Id: ENST00000483425
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,952,831 - 2,953,228 (-)Ensembl
RefSeq Acc Id: ENST00000540563   ⟹   ENSP00000438198
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,934,632 - 2,968,310 (-)Ensembl
RefSeq Acc Id: ENST00000545496   ⟹   ENSP00000441417
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,934,811 - 2,964,284 (-)Ensembl
RefSeq Acc Id: ENST00000672027   ⟹   ENSP00000500220
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,934,832 - 2,968,245 (-)Ensembl
RefSeq Acc Id: ENST00000672097   ⟹   ENSP00000500727
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,934,640 - 2,968,475 (-)Ensembl
RefSeq Acc Id: ENST00000672606   ⟹   ENSP00000500638
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,943,147 - 2,968,258 (-)Ensembl
RefSeq Acc Id: ENST00000672761   ⟹   ENSP00000500108
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,934,658 - 2,968,245 (-)Ensembl
RefSeq Acc Id: ENST00000673032   ⟹   ENSP00000500778
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,934,521 - 2,968,276 (-)Ensembl
RefSeq Acc Id: ENST00000681960
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,951,910 - 2,964,243 (-)Ensembl
RefSeq Acc Id: ENST00000681963   ⟹   ENSP00000507760
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,934,045 - 2,964,252 (-)Ensembl
RefSeq Acc Id: ENST00000682184   ⟹   ENSP00000507043
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,934,045 - 2,964,280 (-)Ensembl
RefSeq Acc Id: ENST00000682364   ⟹   ENSP00000507604
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,934,832 - 2,964,288 (-)Ensembl
RefSeq Acc Id: ENST00000682745
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,951,738 - 2,964,288 (-)Ensembl
RefSeq Acc Id: ENST00000683071
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,951,910 - 2,964,257 (-)Ensembl
RefSeq Acc Id: ENST00000683191
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,934,045 - 2,953,352 (-)Ensembl
RefSeq Acc Id: ENST00000683290   ⟹   ENSP00000508156
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,934,045 - 2,964,288 (-)Ensembl
RefSeq Acc Id: ENST00000683677   ⟹   ENSP00000506786
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,934,045 - 2,964,288 (-)Ensembl
RefSeq Acc Id: ENST00000683854
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,952,323 - 2,964,288 (-)Ensembl
RefSeq Acc Id: ENST00000683958   ⟹   ENSP00000507756
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,936,573 - 2,964,606 (-)Ensembl
RefSeq Acc Id: ENST00000684045
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,951,910 - 2,964,243 (-)Ensembl
RefSeq Acc Id: ENST00000684077   ⟹   ENSP00000506767
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,934,832 - 2,960,400 (-)Ensembl
RefSeq Acc Id: ENST00000684117   ⟹   ENSP00000508337
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,934,045 - 2,968,245 (-)Ensembl
RefSeq Acc Id: ENST00000684364   ⟹   ENSP00000507304
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,934,045 - 2,964,288 (-)Ensembl
RefSeq Acc Id: ENST00000684687   ⟹   ENSP00000507266
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,935,044 - 2,968,245 (-)Ensembl
RefSeq Acc Id: ENST00000684738   ⟹   ENSP00000507481
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,934,832 - 2,964,263 (-)Ensembl
RefSeq Acc Id: NM_000047   ⟹   NP_000038
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X2,934,521 - 2,964,341 (-)NCBI
GRCh37X2,852,673 - 2,886,345 (-)NCBI
Build 36X2,862,673 - 2,892,494 (-)NCBI Archive
HuRefX795,878 - 829,842 (-)NCBI
CHM1_1X2,883,876 - 2,913,703 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282628   ⟹   NP_001269557
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X2,934,521 - 2,964,341 (-)NCBI
HuRefX795,878 - 829,842 (-)NCBI
CHM1_1X2,883,876 - 2,913,703 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282631   ⟹   NP_001269560
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X2,934,810 - 2,968,245 (-)NCBI
HuRefX795,878 - 829,842 (-)NCBI
CHM1_1X2,883,876 - 2,917,560 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369079   ⟹   NP_001356008
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X2,934,810 - 2,968,245 (-)NCBI
RefSeq Acc Id: NM_001369080   ⟹   NP_001356009
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X2,934,810 - 2,968,245 (-)NCBI
RefSeq Acc Id: XM_005274519   ⟹   XP_005274576
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X2,934,810 - 2,964,495 (-)NCBI
GRCh37X2,852,673 - 2,886,345 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274521   ⟹   XP_005274578
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X2,934,810 - 2,964,498 (-)NCBI
GRCh37X2,852,673 - 2,886,345 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545521   ⟹   XP_011543823
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X2,934,810 - 2,964,584 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029526   ⟹   XP_016885015
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X2,934,810 - 2,964,498 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000038   ⟸   NM_000047
- Peptide Label: isoform 2 precursor
- UniProtKB: P51690 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005274576   ⟸   XM_005274519
- Peptide Label: isoform X3
- UniProtKB: P51690 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005274578   ⟸   XM_005274521
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: NP_001269560   ⟸   NM_001282631
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001269557   ⟸   NM_001282628
- Peptide Label: isoform 1
- UniProtKB: A1L484 (UniProtKB/TrEMBL),   B7Z1M0 (UniProtKB/TrEMBL),   B7Z6V4 (UniProtKB/TrEMBL),   F5GYY5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011543823   ⟸   XM_011545521
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016885015   ⟸   XM_017029526
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: NP_001356008   ⟸   NM_001369079
- Peptide Label: isoform 4 precursor
RefSeq Acc Id: NP_001356009   ⟸   NM_001369080
- Peptide Label: isoform 1
RefSeq Acc Id: ENSP00000500778   ⟸   ENST00000673032
RefSeq Acc Id: ENSP00000406528   ⟸   ENST00000438544
RefSeq Acc Id: ENSP00000441417   ⟸   ENST00000545496
RefSeq Acc Id: ENSP00000370526   ⟸   ENST00000381134
RefSeq Acc Id: ENSP00000438198   ⟸   ENST00000540563
RefSeq Acc Id: ENSP00000500220   ⟸   ENST00000672027
RefSeq Acc Id: ENSP00000500727   ⟸   ENST00000672097
RefSeq Acc Id: ENSP00000500108   ⟸   ENST00000672761
RefSeq Acc Id: ENSP00000500638   ⟸   ENST00000672606
RefSeq Acc Id: ENSP00000507604   ⟸   ENST00000682364
RefSeq Acc Id: ENSP00000507304   ⟸   ENST00000684364
RefSeq Acc Id: ENSP00000508156   ⟸   ENST00000683290
RefSeq Acc Id: ENSP00000507760   ⟸   ENST00000681963
RefSeq Acc Id: ENSP00000506786   ⟸   ENST00000683677
RefSeq Acc Id: ENSP00000507266   ⟸   ENST00000684687
RefSeq Acc Id: ENSP00000507756   ⟸   ENST00000683958
RefSeq Acc Id: ENSP00000507481   ⟸   ENST00000684738
RefSeq Acc Id: ENSP00000506767   ⟸   ENST00000684077
RefSeq Acc Id: ENSP00000507043   ⟸   ENST00000682184
RefSeq Acc Id: ENSP00000508337   ⟸   ENST00000684117
Protein Domains
Sulfatase

Promoters
RGD ID:13604654
Promoter ID:EPDNEW_H28511
Type:single initiation site
Name:ARSE_2
Description:arylsulfatase E
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28512  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X2,963,789 - 2,963,849EPDNEW
RGD ID:13604656
Promoter ID:EPDNEW_H28512
Type:initiation region
Name:ARSE_1
Description:arylsulfatase E
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28511  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X2,964,265 - 2,964,325EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000047.2(ARSL):c.970G>A (p.Glu324Lys) single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV000555882] ChrX:2946019 [GRCh38]
ChrX:2864060 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_000047.2(ARSL):c.36G>C (p.Arg12Ser) single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV000012278] ChrX:2958423 [GRCh38]
ChrX:2876464 [GRCh37]
ChrX:Xp22.33
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000047.2(ARSL):c.349G>A (p.Gly117Arg) single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV000012279] ChrX:2953224 [GRCh38]
ChrX:2871265 [GRCh37]
ChrX:Xp22.33
pathogenic
NM_000047.2(ARSL):c.332G>C (p.Arg111Pro) single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV000012280] ChrX:2953241 [GRCh38]
ChrX:2871282 [GRCh37]
ChrX:Xp22.33
pathogenic
NM_000047.2(ARSL):c.410G>T (p.Gly137Val) single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV000012281] ChrX:2953163 [GRCh38]
ChrX:2871204 [GRCh37]
ChrX:Xp22.33
pathogenic
NM_000047.2(ARSL):c.733G>C (p.Gly245Arg) single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV000012282] ChrX:2949425 [GRCh38]
ChrX:2867466 [GRCh37]
ChrX:Xp22.33
pathogenic
NM_000047.2(ARSL):c.1475G>A (p.Cys492Tyr) single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV000012283] ChrX:2935127 [GRCh38]
ChrX:2853168 [GRCh37]
ChrX:Xp22.33
pathogenic
NM_000047.2(ARSL):c.1732C>T (p.Pro578Ser) single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV000012284] ChrX:2934870 [GRCh38]
ChrX:2852911 [GRCh37]
ChrX:Xp22.33
pathogenic
NM_000047.2(ARSL):c.1743G>A (p.Trp581Ter) single nucleotide variant See cases [RCV001196991]|X-linked chondrodysplasia punctata 1 [RCV000012285]|not provided [RCV000485780] ChrX:2934859 [GRCh38]
ChrX:2852900 [GRCh37]
ChrX:Xp22.33
pathogenic|likely pathogenic
NM_000047.2(ARSL):c.119T>G (p.Ile40Ser) single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV000020090] ChrX:2958340 [GRCh38]
ChrX:2876381 [GRCh37]
ChrX:Xp22.33
pathogenic
NM_000047.2(ARSL):c.1442C>T (p.Thr481Met) single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV000020091] ChrX:2935160 [GRCh38]
ChrX:2853201 [GRCh37]
ChrX:Xp22.33
pathogenic
NM_000047.2(ARSL):c.410G>C (p.Gly137Ala) single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV000020092]|not specified [RCV000169650] ChrX:2953163 [GRCh38]
ChrX:2871204 [GRCh37]
ChrX:Xp22.33
pathogenic|uncertain significance
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 Xp22.33-22.2(chrX:10679-11240163)x1 copy number loss See cases [RCV000051034] ChrX:10679..11240163 [GRCh38]
ChrX:60679..11258283 [GRCh37]
ChrX:679..11168204 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.32(chrX:40904-4469489)x3 copy number gain See cases [RCV000052326] ChrX:40904..4469489 [GRCh38]
ChrX:90904..4387530 [GRCh37]
ChrX:30904..4397530 [NCBI36]
ChrX:Xp22.33-22.32
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(chrX:26102-3730888)x3 copy number gain See cases [RCV000052323] ChrX:26102..3730888 [GRCh38]
ChrX:76102..3648929 [GRCh37]
ChrX:16102..3658929 [NCBI36]
ChrX:Xp22.33
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.3(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 Xp22.33(chrX:2444467-2970550)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052291]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052291]|See cases [RCV000052291] ChrX:2444467..2970550 [GRCh38]
ChrX:2362508..2888591 [GRCh37]
ChrX:2372508..2898591 [NCBI36]
ChrX:Xp22.33
uncertain significance
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-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(chrX:2960878-3567038)x0 copy number loss See cases [RCV000053024] ChrX:2960878..3567038 [GRCh38]
ChrX:2878919..3485079 [GRCh37]
ChrX:2888919..3495079 [NCBI36]
ChrX:Xp22.33
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:26102-8495903)x1 copy number loss See cases [RCV000052991] ChrX:26102..8495903 [GRCh38]
ChrX:76102..8463944 [GRCh37]
ChrX:16102..8423944 [NCBI36]
ChrX:Xp22.33-22.31
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 Xp22.33-22.2(chrX:20140-10259836)x1 copy number loss See cases [RCV000052983] ChrX:20140..10259836 [GRCh38]
ChrX:70140..10227876 [GRCh37]
ChrX:10140..10187876 [NCBI36]
ChrX:Xp22.33-22.2
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 Xp22.33-22.31(chrX:10679-7515914)x0 copy number loss See cases [RCV000052967] ChrX:10679..7515914 [GRCh38]
ChrX:60679..7433955 [GRCh37]
ChrX:679..7443955 [NCBI36]
ChrX:Xp22.33-22.31
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 Xp22.33-22.31(chrX:10679-6495923)x1 copy number loss See cases [RCV000052969] ChrX:10679..6495923 [GRCh38]
ChrX:60679..6413964 [GRCh37]
ChrX:679..6423964 [NCBI36]
ChrX:Xp22.33-22.31
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 Xp22.33-22.2(chrX:2777300-10034145)x1 copy number loss See cases [RCV000053008] ChrX:2777300..10034145 [GRCh38]
ChrX:2695341..10002185 [GRCh37]
ChrX:2705341..9962185 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:2782275-8961059)x0 copy number loss See cases [RCV000053011] ChrX:2782275..8961059 [GRCh38]
ChrX:2700316..8929100 [GRCh37]
ChrX:2710316..8889100 [NCBI36]
ChrX:Xp22.33-22.31
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 Xp22.33-11.22(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
GRCh38/hg38 Xp22.33-22.31(chrX:10679-8480277)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053818]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053818]|See cases [RCV000053818] ChrX:10679..8480277 [GRCh38]
ChrX:60679..8448318 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
NM_000047.2(ARSL):c.1694T>G (p.Ile565Ser) single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV000660393]|not provided [RCV001358525] ChrX:2934908 [GRCh38]
ChrX:2852949 [GRCh37]
ChrX:Xp22.33
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
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)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-8480277)x3 copy number gain See cases [RCV000053818] ChrX:10679..8480277 [GRCh38]
ChrX:60679..8448318 [GRCh37]
ChrX:679..8408318 [NCBI36]
ChrX:Xp22.33-22.31
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
NM_000047.2(ARSL):c.495T>G (p.His165Gln) single nucleotide variant not specified [RCV000145031] ChrX:2949663 [GRCh38]
ChrX:2867704 [GRCh37]
ChrX:Xp22.33
benign
NM_000047.2(ARSL):c.867G>A (p.Gly289=) single nucleotide variant not specified [RCV000145036] ChrX:2946122 [GRCh38]
ChrX:2864163 [GRCh37]
ChrX:Xp22.33
benign
GRCh38/hg38 Xp22.33-22.32(chrX:2963899-5016927)x3 copy number gain See cases [RCV000133757] ChrX:2963899..5016927 [GRCh38]
ChrX:2881940..4934968 [GRCh37]
ChrX:2891940..4944968 [NCBI36]
ChrX:Xp22.33-22.32
pathogenic
NM_000047.2(ARSL):c.1270G>A (p.Gly424Ser) single nucleotide variant none provided [RCV000999946]|not provided [RCV000224630]|not specified [RCV000145026] ChrX:2938114 [GRCh38]
ChrX:2856155 [GRCh37]
ChrX:Xp22.33
benign
NM_000047.2(ARSL):c.157A>G (p.Ile53Val) single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV000526439]|none provided [RCV001282668]|not specified [RCV000145027] ChrX:2958302 [GRCh38]
ChrX:2876343 [GRCh37]
ChrX:Xp22.33
benign
NM_000047.2(ARSL):c.1692C>T (p.Asn564=) single nucleotide variant not provided [RCV000224622]|not specified [RCV000145028] ChrX:2934910 [GRCh38]
ChrX:2852951 [GRCh37]
ChrX:Xp22.33
benign
NM_000047.2(ARSL):c.1728G>A (p.Pro576=) single nucleotide variant not specified [RCV000145029] ChrX:2934874 [GRCh38]
ChrX:2852915 [GRCh37]
ChrX:Xp22.33
benign
NM_000047.2(ARSL):c.337C>T (p.Leu113Phe) single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV000145030] ChrX:2953236 [GRCh38]
ChrX:2871277 [GRCh37]
ChrX:Xp22.33
likely pathogenic
NM_000047.2(ARSL):c.548G>A (p.Arg183His) single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV001000012]|not provided [RCV000224708]|not specified [RCV000145032] ChrX:2949610 [GRCh38]
ChrX:2867651 [GRCh37]
ChrX:Xp22.33
benign
NM_000047.2(ARSL):c.549C>T (p.Arg183=) single nucleotide variant none provided [RCV001001494]|not specified [RCV000145033] ChrX:2949609 [GRCh38]
ChrX:2867650 [GRCh37]
ChrX:Xp22.33
benign
NM_000047.2(ARSL):c.786G>A (p.Thr262=) single nucleotide variant not specified [RCV000145034] ChrX:2949372 [GRCh38]
ChrX:2867413 [GRCh37]
ChrX:Xp22.33
benign
NM_000047.2(ARSL):c.78A>G (p.Ala26=) single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV000539008]|not specified [RCV000145035] ChrX:2958381 [GRCh38]
ChrX:2876422 [GRCh37]
ChrX:Xp22.33
benign
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 Xp22.33-22.31(chrX:10679-9459643)x1 copy number loss See cases [RCV000134136] ChrX:10679..9459643 [GRCh38]
ChrX:60679..9427683 [GRCh37]
ChrX:679..9387683 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10001-6536888)x1 copy number loss See cases [RCV000135304] ChrX:10001..6536888 [GRCh38]
ChrX:17642..6454929 [GRCh37]
ChrX:1..6464929 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:1202712-7928490)x0 copy number loss See cases [RCV000135329] ChrX:1202712..7928490 [GRCh38]
ChrX:1321581..7896531 [GRCh37]
ChrX:1281581..7856531 [NCBI36]
ChrX:Xp22.33-22.31
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(chrX:10679-3758140)x0 copy number loss See cases [RCV000135635] ChrX:10679..3758140 [GRCh38]
ChrX:60679..3676181 [GRCh37]
ChrX:679..3686181 [NCBI36]
ChrX:Xp22.33
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-8480277)x1 copy number loss See cases [RCV000135756] ChrX:10679..8480277 [GRCh38]
ChrX:60679..8448318 [GRCh37]
ChrX:679..8408318 [NCBI36]
ChrX:Xp22.33-22.31
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 Xp22.33-22.31(chrX:10701-8466385)x1 copy number loss See cases [RCV000136524] ChrX:10701..8466385 [GRCh38]
ChrX:60701..8434426 [GRCh37]
ChrX:701..8394426 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33(chrX:2751384-3349640)x3 copy number gain See cases [RCV000136535] ChrX:2751384..3349640 [GRCh38]
ChrX:2669425..3267681 [GRCh37]
ChrX:2679425..3277681 [NCBI36]
ChrX:Xp22.33
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 Xp22.33-22.31(chrX:10701-8129470)x3 copy number gain See cases [RCV000136091] ChrX:10701..8129470 [GRCh38]
ChrX:60701..8097511 [GRCh37]
ChrX:701..8057511 [NCBI36]
ChrX:Xp22.33-22.31
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 Xp22.33-22.31(chrX:20140-9459643)x0 copy number loss See cases [RCV000136885] ChrX:20140..9459643 [GRCh38]
ChrX:70140..9427683 [GRCh37]
ChrX:10140..9387683 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
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 Xp22.33-22.31(chrX:2765636-6317066)x1 copy number loss See cases [RCV000136749] ChrX:2765636..6317066 [GRCh38]
ChrX:2683677..6235107 [GRCh37]
ChrX:2693677..6245107 [NCBI36]
ChrX:Xp22.33-22.31
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(chrX:2782275-3355873)x2 copy number gain See cases [RCV000137519] ChrX:2782275..3355873 [GRCh38]
ChrX:2700316..3273914 [GRCh37]
ChrX:2710316..3283914 [NCBI36]
ChrX:Xp22.33
likely benign
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 Xp22.33-22.31(chrX:10701-8147112)x1 copy number loss See cases [RCV000137882] ChrX:10701..8147112 [GRCh38]
ChrX:60701..8115153 [GRCh37]
ChrX:701..8075153 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8568401)x0 copy number loss See cases [RCV000137883] ChrX:10701..8568401 [GRCh38]
ChrX:60701..8536442 [GRCh37]
ChrX:701..8496442 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
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 Xp22.33(chrX:1718254-3700497)x0 copy number loss See cases [RCV000138953] ChrX:1718254..3700497 [GRCh38]
ChrX:1837147..3618538 [GRCh37]
ChrX:1797147..3628538 [NCBI36]
ChrX:Xp22.33
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xp22.33-11.22(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 Xp22.33-22.2(chrX:251879-9798930)x1 copy number loss See cases [RCV000141931] ChrX:251879..9798930 [GRCh38]
ChrX:168546..9766970 [GRCh37]
ChrX:108546..9726970 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:251879-6583978)x1 copy number loss See cases [RCV000141660] ChrX:251879..6583978 [GRCh38]
ChrX:168546..6502019 [GRCh37]
ChrX:108546..6512019 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
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(chrX:2929855-3238763)x2 copy number gain See cases [RCV000141536] ChrX:2929855..3238763 [GRCh38]
ChrX:2847896..3156804 [GRCh37]
ChrX:2857896..3166804 [NCBI36]
ChrX:Xp22.33
uncertain significance
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:251879-16967290)x1 copy number loss See cases [RCV000142053] ChrX:251879..16967290 [GRCh38]
ChrX:168546..16985413 [GRCh37]
ChrX:108546..16895334 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8423970)x1 copy number loss See cases [RCV000143070] ChrX:10701..8423970 [GRCh38]
ChrX:60701..8392011 [GRCh37]
ChrX:701..8352011 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33(chrX:2782037-3306245)x2 copy number gain See cases [RCV000142994] ChrX:2782037..3306245 [GRCh38]
ChrX:2700078..3224286 [GRCh37]
ChrX:2710078..3234286 [NCBI36]
ChrX:Xp22.33
likely benign
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 Xp22.33-22.31(chrX:2790845-6495923)x0 copy number loss See cases [RCV000142746] ChrX:2790845..6495923 [GRCh38]
ChrX:2708886..6413964 [GRCh37]
ChrX:2718886..6423964 [NCBI36]
ChrX:Xp22.33-22.31
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 Xp22.33-22.31(chrX:1539767-9473964)x0 copy number loss See cases [RCV000143697] ChrX:1539767..9473964 [GRCh38]
ChrX:1658660..9442004 [GRCh37]
ChrX:1618660..9402004 [NCBI36]
ChrX:Xp22.33-22.31
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 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33(chrX:2873380-2878978)x2 copy number gain See cases [RCV000240226] ChrX:2873380..2878978 [GRCh37]
ChrX:Xp22.33
likely 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
NM_000047.2(ARSL):c.775C>G (p.His259Asp) single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV001088865]|none provided [RCV001287464]|not provided [RCV000224683] ChrX:2949383 [GRCh38]
ChrX:2867424 [GRCh37]
ChrX:Xp22.33
benign|likely benign
NM_000047.2(ARSL):c.102C>T (p.Ser34=) single nucleotide variant not provided [RCV000757008] ChrX:2958357 [GRCh38]
ChrX:2876398 [GRCh37]
ChrX:Xp22.33
benign
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(chrX:2576743-2951072)x3 copy number gain See cases [RCV000239940] ChrX:2576743..2951072 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Xp22.33(chrX:71267-3248235)x1 copy number loss See cases [RCV000240278] ChrX:71267..3248235 [GRCh37]
ChrX:Xp22.33
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_000047.3(ARSL):c.-14_-13GA[3] microsatellite none provided [RCV001000817]|not specified [RCV000250372] ChrX:2960405..2960408 [GRCh38]
ChrX:2878446..2878449 [GRCh37]
ChrX:Xp22.33
benign|likely benign|conflicting interpretations of pathogenicity
NM_000047.2(ARSL):c.1300G>A (p.Gly434Ser) single nucleotide variant not provided [RCV000305082] ChrX:2936853 [GRCh38]
ChrX:2854894 [GRCh37]
ChrX:Xp22.33
pathogenic
NM_000047.2(ARSL):c.1711C>T (p.Gln571Ter) single nucleotide variant not provided [RCV000360070] ChrX:2934891 [GRCh38]
ChrX:2852932 [GRCh37]
ChrX:Xp22.33
pathogenic
NM_000047.2(ARSL):c.331C>T (p.Arg111Cys) single nucleotide variant not provided [RCV000489401] ChrX:2953242 [GRCh38]
ChrX:2871283 [GRCh37]
ChrX:Xp22.33
likely pathogenic
NM_000047.2(ARSL):c.1471G>A (p.Ala491Thr) single nucleotide variant Inborn genetic diseases [RCV000623613] ChrX:2935131 [GRCh38]
ChrX:2853172 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33(chrX:2766830-2920785)x2 copy number gain Hypoplastic left heart syndrome [RCV001251055] ChrX:2766830..2920785 [GRCh37]
ChrX:Xp22.33
uncertain significance
NM_001282631.2(ARSL):c.23+2045_23+2047del microsatellite not provided [RCV000599490] ChrX:2958331..2958333 [GRCh38]
ChrX:2876372..2876374 [GRCh37]
ChrX:Xp22.33
pathogenic
NM_000047.2(ARSL):c.715G>A (p.Ala239Thr) single nucleotide variant not provided [RCV000591221] ChrX:2949443 [GRCh38]
ChrX:2867484 [GRCh37]
ChrX:Xp22.33
conflicting interpretations of pathogenicity|uncertain significance
NM_000047.2(ARSL):c.467G>A (p.Ser156Asn) single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV000606976]|not provided [RCV000952067] ChrX:2949691 [GRCh38]
ChrX:2867732 [GRCh37]
ChrX:Xp22.33
benign|likely 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 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_000047.2(ARSL):c.752C>T (p.Ala251Val) single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV001322105]|not specified [RCV000413116] ChrX:2949406 [GRCh38]
ChrX:2867447 [GRCh37]
ChrX:Xp22.33
uncertain significance
NM_000047.2(ARSL):c.332G>A (p.Arg111His) single nucleotide variant not provided [RCV000414219] ChrX:2953241 [GRCh38]
ChrX:2871282 [GRCh37]
ChrX:Xp22.33
likely 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(chrX:2707626-2937367)x2 copy number gain See cases [RCV000446803] ChrX:2707626..2937367 [GRCh37]
ChrX:Xp22.33
uncertain significance
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 Xp22.33-22.31(chrX:70297-8654089)x0 copy number loss See cases [RCV000446121] ChrX:70297..8654089 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33(chrX:2856291-2856474)x3 copy number gain See cases [RCV000446410] ChrX:2856291..2856474 [GRCh37]
ChrX:Xp22.33
benign
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
NM_000047.2(ARSL):c.1686G>C (p.Leu562=) single nucleotide variant not specified [RCV000435203] ChrX:2934916 [GRCh38]
ChrX:2852957 [GRCh37]
ChrX:Xp22.33
likely benign
NM_000047.2(ARSL):c.23G>C (p.Cys8Ser) single nucleotide variant not provided [RCV000435946] ChrX:2960378 [GRCh38]
ChrX:2878419 [GRCh37]
ChrX:Xp22.33
uncertain significance
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(chrX:2233394-3553923)x1 copy number loss See cases [RCV000448895] ChrX:2233394..3553923 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33(chrX:2832747-2856474)x2 copy number gain See cases [RCV000447698] ChrX:2832747..2856474 [GRCh37]
ChrX:Xp22.33
likely benign
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 Xp22.33(chrX:2703632-3085643)x2 copy number gain See cases [RCV000448956] ChrX:2703632..3085643 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33(chrX:2852856-2856474)x2 copy number gain See cases [RCV000447816] ChrX:2852856..2856474 [GRCh37]
ChrX:Xp22.33
benign|likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33(chrX:168546-2946211)x3 copy number gain See cases [RCV000512044] ChrX:168546..2946211 [GRCh37]
ChrX:Xp22.33
uncertain significance
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
NM_000047.2(ARSL):c.994C>T (p.Arg332Trp) single nucleotide variant not provided [RCV000493932] ChrX:2943197 [GRCh38]
ChrX:2861238 [GRCh37]
ChrX:Xp22.33
uncertain significance
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 Xp22.33(chrX:168547-3880686)x0 copy number loss See cases [RCV000511695] ChrX:168547..3880686 [GRCh37]
ChrX:Xp22.33
pathogenic
GRCh37/hg19 Xp22.33(chrX:168546-3259868)x0 copy number loss See cases [RCV000511728] ChrX:168546..3259868 [GRCh37]
ChrX:Xp22.33
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 Xp22.33-22.31(chrX:168546-7721374)x1 copy number loss See cases [RCV000511828] ChrX:168546..7721374 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
NM_000047.2(ARSL):c.1387G>A (p.Ala463Thr) single nucleotide variant not provided [RCV000493072] ChrX:2936766 [GRCh38]
ChrX:2854807 [GRCh37]
ChrX:Xp22.33
likely pathogenic
GRCh37/hg19 Xp22.33-22.32(chrX:168546-5896155)x1 copy number loss See cases [RCV000510877] ChrX:168546..5896155 [GRCh37]
ChrX:Xp22.33-22.32
pathogenic
GRCh37/hg19 Xp22.33(chrX:2465155-3008237)x3 copy number gain See cases [RCV000511030] ChrX:2465155..3008237 [GRCh37]
ChrX:Xp22.33
likely benign
NM_000047.2(ARSL):c.1189G>A (p.Gly397Arg) single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV000625879] ChrX:2938195 [GRCh38]
ChrX:2856236 [GRCh37]
ChrX:Xp22.33
likely pathogenic|benign|conflicting interpretations of pathogenicity
GRCh37/hg19 Xp22.33-22.2(chrX:168546-9868031)x0 copy number loss See cases [RCV000510906] ChrX:168546..9868031 [GRCh37]
ChrX:Xp22.33-22.2
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_000047.2(ARSL):c.495T>C (p.His165=) single nucleotide variant none provided [RCV001284749]|not specified [RCV000604264] ChrX:2949663 [GRCh38]
ChrX:2867704 [GRCh37]
ChrX:Xp22.33
benign
NM_000047.2(ARSL):c.1289+6G>C single nucleotide variant not specified [RCV000602862] ChrX:2938089 [GRCh38]
ChrX:2856130 [GRCh37]
ChrX:Xp22.33
likely benign
NM_000047.2(ARSL):c.23+17T>C single nucleotide variant not specified [RCV000610109] ChrX:2960361 [GRCh38]
ChrX:2878402 [GRCh37]
ChrX:Xp22.33
likely benign
NM_000047.2(ARSL):c.430+8C>T single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV001001562]|none provided [RCV001283230]|not specified [RCV000609059] ChrX:2953135 [GRCh38]
ChrX:2871176 [GRCh37]
ChrX:Xp22.33
benign
GRCh37/hg19 Xp22.33(chrX:2879716-3369793)x2 copy number gain See cases [RCV000512199] ChrX:2879716..3369793 [GRCh37]
ChrX:Xp22.33
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
NM_000047.2(ARSL):c.958G>A (p.Gly320Arg) single nucleotide variant Inborn genetic diseases [RCV000622582] ChrX:2946031 [GRCh38]
ChrX:2864072 [GRCh37]
ChrX:Xp22.33
uncertain significance
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
NM_000047.2(ARSL):c.977T>C (p.Met326Thr) single nucleotide variant not provided [RCV000657984] ChrX:2946012 [GRCh38]
ChrX:2864053 [GRCh37]
ChrX:Xp22.33
likely 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 Xp22.33-22.31(chrX:168546-7796566)x1 copy number loss not provided [RCV000684180] ChrX:168546..7796566 [GRCh37]
ChrX:Xp22.33-22.31
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 Xp22.33-22.31(chrX:2051958-8135053)x1 copy number loss not provided [RCV000684231] ChrX:2051958..8135053 [GRCh37]
ChrX:Xp22.33-22.31
uncertain significance
GRCh37/hg19 Xp22.33-22.32(chrX:2703822-4472534)x1 copy number loss not provided [RCV000684235] ChrX:2703822..4472534 [GRCh37]
ChrX:Xp22.33-22.32
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 Xp22.33-22.2(chrX:168546-16404364)x1 copy number loss not provided [RCV000684181] ChrX:168546..16404364 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:60262-7807206)x1 copy number loss not provided [RCV000753270] ChrX:60262..7807206 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:2700157-9866420)x3 copy number gain not provided [RCV000753312] ChrX:2700157..9866420 [GRCh37]
ChrX:Xp22.33-22.2
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 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp22.33(chrX:2568904-2904328)x3 copy number gain not provided [RCV000753308] ChrX:2568904..2904328 [GRCh37]
ChrX:Xp22.33
benign
GRCh37/hg19 Xp22.33(chrX:2700157-3183507)x2 copy number gain not provided [RCV000753311] ChrX:2700157..3183507 [GRCh37]
ChrX:Xp22.33
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
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [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 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000047.3(ARSL):c.23+687G>A single nucleotide variant none provided [RCV001286418] ChrX:2959691 [GRCh38]
ChrX:2877732 [GRCh37]
ChrX:Xp22.33
benign
NM_000047.3(ARSL):c.1408G>C (p.Asp470His) single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV000872893] ChrX:2936745 [GRCh38]
ChrX:2854786 [GRCh37]
ChrX:Xp22.33
benign
NM_000047.3(ARSL):c.1289+9C>T single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV000872955] ChrX:2938086 [GRCh38]
ChrX:2856127 [GRCh37]
ChrX:Xp22.33
benign
NM_000047.2(ARSL):c.1394G>C (p.Arg465Thr) single nucleotide variant not provided [RCV000762602] ChrX:2936759 [GRCh38]
ChrX:2854800 [GRCh37]
ChrX:Xp22.33
uncertain significance
NM_000047.2(ARSL):c.513C>A (p.Tyr171Ter) single nucleotide variant not provided [RCV000760718] ChrX:2949645 [GRCh38]
ChrX:2867686 [GRCh37]
ChrX:Xp22.33
likely pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:168546-6449753)x1 copy number loss not provided [RCV001007201] ChrX:168546..6449753 [GRCh37]
ChrX:Xp22.33-22.31
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
NM_000047.3(ARSL):c.819C>G (p.Pro273=) single nucleotide variant not provided [RCV000927355] ChrX:2949339 [GRCh38]
ChrX:2867380 [GRCh37]
ChrX:Xp22.33
likely benign
NM_000047.3(ARSL):c.1192G>A (p.Val398Met) single nucleotide variant not provided [RCV000921615] ChrX:2938192 [GRCh38]
ChrX:2856233 [GRCh37]
ChrX:Xp22.33
likely benign
NM_000047.3(ARSL):c.664G>A (p.Val222Ile) single nucleotide variant not provided [RCV000945988] ChrX:2949494 [GRCh38]
ChrX:2867535 [GRCh37]
ChrX:Xp22.33
benign
NM_000047.3(ARSL):c.714C>T (p.Leu238=) single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV000945340] ChrX:2949444 [GRCh38]
ChrX:2867485 [GRCh37]
ChrX:Xp22.33
benign
NM_000047.3(ARSL):c.103G>A (p.Ala35Thr) single nucleotide variant not provided [RCV000970592] ChrX:2958356 [GRCh38]
ChrX:2876397 [GRCh37]
ChrX:Xp22.33
benign
NM_000047.3(ARSL):c.512A>G (p.Tyr171Cys) single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV001039655] ChrX:2949646 [GRCh38]
ChrX:2867687 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33-22.32(chrX:168546-5723788)x0 copy number loss not provided [RCV001007203] ChrX:168546..5723788 [GRCh37]
ChrX:Xp22.33-22.32
pathogenic
NC_000023.11:g.(?_2934812)_(2958455_?)del deletion X-linked chondrodysplasia punctata 1 [RCV001032717] ChrX:2852853..2876496 [GRCh37]
ChrX:Xp22.33
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
NC_000023.11:g.(?_2934812)_(2960420_?)del deletion X-linked chondrodysplasia punctata 1 [RCV000814628] ChrX:2934812..2960420 [GRCh38]
ChrX:2852853..2878461 [GRCh37]
ChrX:Xp22.33
pathogenic
NM_000047.3(ARSL):c.1181G>A (p.Arg394His) single nucleotide variant not provided [RCV000921546] ChrX:2938203 [GRCh38]
ChrX:2856244 [GRCh37]
ChrX:Xp22.33
benign
NM_000047.3(ARSL):c.873C>A (p.Phe291Leu) single nucleotide variant not provided [RCV000950307] ChrX:2946116 [GRCh38]
ChrX:2864157 [GRCh37]
ChrX:Xp22.33
likely benign
GRCh37/hg19 Xp22.33-22.31(chrX:1-9298403) copy number loss not provided [RCV000767649] ChrX:1..9298403 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
NM_000047.2(ARSL):c.23+584C>T single nucleotide variant not provided [RCV000834040] ChrX:2959794 [GRCh38]
ChrX:2877835 [GRCh37]
ChrX:Xp22.33
benign
NM_000047.2(ARSL):c.307+209C>T single nucleotide variant not provided [RCV000832032] ChrX:2955207 [GRCh38]
ChrX:2873248 [GRCh37]
ChrX:Xp22.33
likely benign
NM_000047.2(ARSL):c.185+101A>G single nucleotide variant not provided [RCV000834523] ChrX:2958173 [GRCh38]
ChrX:2876214 [GRCh37]
ChrX:Xp22.33
likely benign
NM_000047.3(ARSL):c.114G>A (p.Pro38=) single nucleotide variant not provided [RCV000893028] ChrX:2958345 [GRCh38]
ChrX:2876386 [GRCh37]
ChrX:Xp22.33
benign
NM_000047.2(ARSL):c.23+343G>A single nucleotide variant not provided [RCV000833184] ChrX:2960035 [GRCh38]
ChrX:2878076 [GRCh37]
ChrX:Xp22.33
likely benign
NM_000047.2(ARSL):c.23+353A>C single nucleotide variant not provided [RCV000833185] ChrX:2960025 [GRCh38]
ChrX:2878066 [GRCh37]
ChrX:Xp22.33
likely benign
NM_000047.2(ARSL):c.23+931G>T single nucleotide variant not provided [RCV000833186] ChrX:2959447 [GRCh38]
ChrX:2877488 [GRCh37]
ChrX:Xp22.33
likely benign
NM_000047.3(ARSL):c.840G>A (p.Ala280=) single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV000871531] ChrX:2949318 [GRCh38]
ChrX:2867359 [GRCh37]
ChrX:Xp22.33
benign
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 Xp22.33-22.2(chrX:2703632-14129100)x2 copy number gain not provided [RCV000847649] ChrX:2703632..14129100 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
NM_000047.2(ARSL):c.1239C>A (p.Asp413Glu) single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV000796979] ChrX:2938145 [GRCh38]
ChrX:2856186 [GRCh37]
ChrX:Xp22.33
uncertain significance
NM_000047.2(ARSL):c.992-219C>G single nucleotide variant not provided [RCV000826273] ChrX:2943418 [GRCh38]
ChrX:2861459 [GRCh37]
ChrX:Xp22.33
benign
NM_000047.2(ARSL):c.1290-271C>G single nucleotide variant not provided [RCV000828902] ChrX:2937134 [GRCh38]
ChrX:2855175 [GRCh37]
ChrX:Xp22.33
benign
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
NM_000047.2(ARSL):c.307+144T>G single nucleotide variant not provided [RCV000828884] ChrX:2955272 [GRCh38]
ChrX:2873313 [GRCh37]
ChrX:Xp22.33
benign
NM_000047.2(ARSL):c.1290-295A>G single nucleotide variant not provided [RCV000828898] ChrX:2937158 [GRCh38]
ChrX:2855199 [GRCh37]
ChrX:Xp22.33
benign
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
GRCh37/hg19 Xp22.33(chrX:2468907-3011375)x3 copy number gain not provided [RCV000848891] ChrX:2468907..3011375 [GRCh37]
ChrX:Xp22.33
uncertain significance
NM_000047.3(ARSL):c.868C>T (p.Pro290Ser) single nucleotide variant not provided [RCV000999309] ChrX:2946121 [GRCh38]
ChrX:2864162 [GRCh37]
ChrX:Xp22.33
uncertain significance
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 Xp22.33-22.31(chrX:169790-8465951)x1 copy number loss not provided [RCV000848066] ChrX:169790..8465951 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:168546-8503210)x1 copy number loss not provided [RCV001007202] ChrX:168546..8503210 [GRCh37]
ChrX:Xp22.33-22.31
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_000047.3(ARSL):c.1386C>T (p.His462=) single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV000951519]|none provided [RCV001285401] ChrX:2936767 [GRCh38]
ChrX:2854808 [GRCh37]
ChrX:Xp22.33
benign
NM_000047.3(ARSL):c.1704G>A (p.Pro568=) single nucleotide variant not provided [RCV000908325] ChrX:2934898 [GRCh38]
ChrX:2852939 [GRCh37]
ChrX:Xp22.33
benign
NM_000047.3(ARSL):c.23+5G>C single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV000952151] ChrX:2960373 [GRCh38]
ChrX:2878414 [GRCh37]
ChrX:Xp22.33
benign
NM_000047.3(ARSL):c.1098G>A (p.Gln366=) single nucleotide variant not provided [RCV000917196] ChrX:2943093 [GRCh38]
ChrX:2861134 [GRCh37]
ChrX:Xp22.33
likely benign
NM_000047.3(ARSL):c.703G>A (p.Val235Ile) single nucleotide variant not provided [RCV000980785] ChrX:2949455 [GRCh38]
ChrX:2867496 [GRCh37]
ChrX:Xp22.33
benign
NM_000047.3(ARSL):c.1039C>T (p.Leu347Phe) single nucleotide variant not provided [RCV000893899] ChrX:2943152 [GRCh38]
ChrX:2861193 [GRCh37]
ChrX:Xp22.33
benign
NM_000047.3(ARSL):c.220G>A (p.Val74Met) single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV000951983]|none provided [RCV001286773] ChrX:2955503 [GRCh38]
ChrX:2873544 [GRCh37]
ChrX:Xp22.33
benign
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_000047.3(ARSL):c.1158del (p.Ile387fs) deletion X-linked chondrodysplasia punctata 1 [RCV001056078] ChrX:2938226 [GRCh38]
ChrX:2856267 [GRCh37]
ChrX:Xp22.33
pathogenic
GRCh37/hg19 Xp22.33(chrX:168546-3265521)x0 copy number loss not provided [RCV001007199] ChrX:168546..3265521 [GRCh37]
ChrX:Xp22.33
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:60814-6043278)x0 copy number loss See cases [RCV001007410] ChrX:60814..6043278 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
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_000047.3(ARSL):c.1672C>A (p.Gln558Lys) single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV001302260]|not specified [RCV001174831] ChrX:2934930 [GRCh38]
ChrX:2852971 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33-22.31(chrX:1-7810731)x2 copy number gain not provided [RCV001007197] ChrX:1..7810731 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33(chrX:827260-3057917)x3 copy number gain not provided [RCV001007232] ChrX:827260..3057917 [GRCh37]
ChrX:Xp22.33
uncertain significance
NM_000047.3(ARSL):c.897C>T (p.His299=) single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV001002374] ChrX:2946092 [GRCh38]
ChrX:2864133 [GRCh37]
ChrX:Xp22.33
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 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NM_000047.3(ARSL):c.684C>G (p.Ile228Met) single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV001002070] ChrX:2949474 [GRCh38]
ChrX:2867515 [GRCh37]
ChrX:Xp22.33
uncertain significance
NM_000047.3(ARSL):c.898G>A (p.Val300Ile) single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV001007931] ChrX:2946091 [GRCh38]
ChrX:2864132 [GRCh37]
ChrX:Xp22.33
uncertain significance
NM_000047.3(ARSL):c.109C>T (p.Arg37Ter) single nucleotide variant not provided [RCV001254806] ChrX:2958350 [GRCh38]
ChrX:2876391 [GRCh37]
ChrX:Xp22.33
likely pathogenic
NM_000047.3(ARSL):c.1022G>T (p.Gly341Val) single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV001253559] ChrX:2943169 [GRCh38]
ChrX:2861210 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33(chrX:2422650-2965166)x3 copy number gain not provided [RCV001258824] ChrX:2422650..2965166 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33(chrX:2428084-3118627)x2 copy number gain not provided [RCV001258827] ChrX:2428084..3118627 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33(chrX:2571744-3605934)x2 copy number gain not provided [RCV001258829] ChrX:2571744..3605934 [GRCh37]
ChrX:Xp22.33
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
NM_000047.3(ARSL):c.694C>G (p.Leu232Val) single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV001348565] ChrX:2949464 [GRCh38]
ChrX:2867505 [GRCh37]
ChrX:Xp22.33
uncertain significance
NM_000047.3(ARSL):c.113C>T (p.Pro38Leu) single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV001363258] ChrX:2958346 [GRCh38]
ChrX:2876387 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000047.3(ARSL):c.1422G>C (p.Met474Ile) single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV001316534] ChrX:2935180 [GRCh38]
ChrX:2853221 [GRCh37]
ChrX:Xp22.33
uncertain significance
NM_000047.3(ARSL):c.1022G>C (p.Gly341Ala) single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV001362601] ChrX:2943169 [GRCh38]
ChrX:2861210 [GRCh37]
ChrX:Xp22.33
uncertain significance
NM_000047.3(ARSL):c.569G>A (p.Arg190His) single nucleotide variant X-linked chondrodysplasia punctata 1 [RCV001297637] ChrX:2949589 [GRCh38]
ChrX:2867630 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33-22.32(chrX:60000-4857212)x1 copy number loss not provided [RCV001270673] ChrX:60000..4857212 [GRCh37]
ChrX:Xp22.33-22.32
pathogenic
NM_000047.3(ARSL):c.1034G>A (p.Ser345Asn) single nucleotide variant not provided [RCV001358285] ChrX:2943157 [GRCh38]
ChrX:2861198 [GRCh37]
ChrX:Xp22.33
uncertain significance
NM_000047.3(ARSL):c.1156G>T (p.Gly386Trp) single nucleotide variant not specified [RCV001358711] ChrX:2938228 [GRCh38]
ChrX:2856269 [GRCh37]
ChrX:Xp22.33
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:719 AgrOrtholog
COSMIC ARSL COSMIC
Ensembl Genes ENSG00000157399 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000370526 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000406528 UniProtKB/TrEMBL
  ENSP00000438198 UniProtKB/TrEMBL
  ENSP00000441417 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000500108 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000500220 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000500638 UniProtKB/TrEMBL
  ENSP00000500727 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000500778 UniProtKB/TrEMBL
  ENSP00000507604 ENTREZGENE
Ensembl Transcript ENST00000381134 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000438544 UniProtKB/TrEMBL
  ENST00000540563 UniProtKB/TrEMBL
  ENST00000545496 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000672027 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000672097 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000672606 UniProtKB/TrEMBL
  ENST00000672761 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000673032 UniProtKB/TrEMBL
  ENST00000682364 ENTREZGENE
Gene3D-CATH 3.40.720.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000157399 GTEx
HGNC ID HGNC:719 ENTREZGENE
Human Proteome Map ARSL Human Proteome Map
InterPro Alkaline_phosphatase_core_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sulfatase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sulfatase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:415 UniProtKB/Swiss-Prot
NCBI Gene 415 ENTREZGENE
OMIM 300180 OMIM
  302950 OMIM
Pfam Sulfatase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB ARSE RGD, PharmGKB
PROSITE SULFATASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SULFATASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53649 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A5F9ZHU0_HUMAN UniProtKB/TrEMBL
  A0A5F9ZHX8_HUMAN UniProtKB/TrEMBL
  A0A5F9ZHZ5_HUMAN UniProtKB/TrEMBL
  A1L484 ENTREZGENE, UniProtKB/TrEMBL
  ARSE_HUMAN UniProtKB/Swiss-Prot
  B7Z1M0 ENTREZGENE, UniProtKB/TrEMBL
  B7Z6V4 ENTREZGENE, UniProtKB/TrEMBL
  C9J5G7_HUMAN UniProtKB/TrEMBL
  F5GYY5 ENTREZGENE, UniProtKB/TrEMBL
  F5H324_HUMAN UniProtKB/TrEMBL
  P51690 ENTREZGENE
UniProt Secondary Q53FT2 UniProtKB/Swiss-Prot
  Q53FU8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-08-13 ARSL  arylsulfatase L  ARSE  arylsulfatase E  Symbol and/or name change 5135510 APPROVED
2018-06-05 ARSE  arylsulfatase E  ARSE  arylsulfatase E (chondrodysplasia punctata 1)  Symbol and/or name change 5135510 APPROVED
2013-10-29 ARSE  arylsulfatase E (chondrodysplasia punctata 1)  ARSE  arylsulfatase E  Symbol and/or name change 5135510 APPROVED
2013-09-24 ARSE  arylsulfatase E  ARSE  arylsulfatase E (chondrodysplasia punctata 1)  Symbol and/or name change 5135510 APPROVED