SLC38A5 (solute carrier family 38 member 5) - Rat Genome Database

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Gene: SLC38A5 (solute carrier family 38 member 5) Homo sapiens
Analyze
Symbol: SLC38A5
Name: solute carrier family 38 member 5
RGD ID: 730905
HGNC Page HGNC
Description: Exhibits amino acid transmembrane transporter activity. Involved in amino acid transport. Predicted to localize to integral component of plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: JM24; pp7194; SN2; SNAT5; sodium-coupled neutral amino acid transporter 5; solute carrier family 38 (amino acid transporter), member 5; solute carrier family 38, member 5; system N transporter 2; transport system N, protein 2
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 EnsemblX48,458,537 - 48,470,260 (-)EnsemblGRCh38hg38GRCh38
GRCh38X48,458,544 - 48,470,260 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X48,316,927 - 48,328,648 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,201,871 - 48,213,509 (-)NCBINCBI36hg18NCBI36
Build 34X48,073,181 - 48,084,819NCBI
CeleraX53,337,091 - 53,348,808 (+)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX45,981,068 - 45,992,834 (-)NCBIHuRef
CHM1_1X48,348,155 - 48,359,900 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:11243884   PMID:12477932   PMID:14702039   PMID:16344560   PMID:17333282   PMID:18195088   PMID:18418736   PMID:21873635   PMID:22382077   PMID:22939629   PMID:23506890   PMID:26496610  
PMID:26590417   PMID:28190767   PMID:29499643   PMID:30280653  


Genomics

Comparative Map Data
SLC38A5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX48,458,537 - 48,470,260 (-)EnsemblGRCh38hg38GRCh38
GRCh38X48,458,544 - 48,470,260 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X48,316,927 - 48,328,648 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,201,871 - 48,213,509 (-)NCBINCBI36hg18NCBI36
Build 34X48,073,181 - 48,084,819NCBI
CeleraX53,337,091 - 53,348,808 (+)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX45,981,068 - 45,992,834 (-)NCBIHuRef
CHM1_1X48,348,155 - 48,359,900 (-)NCBICHM1_1
Slc38a5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X8,137,620 - 8,146,418 (+)NCBIGRCm39mm39
GRCm39 EnsemblX8,137,372 - 8,146,418 (+)Ensembl
GRCm38X8,271,381 - 8,280,179 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX8,271,133 - 8,280,179 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X7,848,518 - 7,857,305 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X7,428,353 - 7,437,133 (+)NCBImm8
CeleraX3,190,181 - 3,198,970 (-)NCBICelera
Cytogenetic MapXA1.1NCBI
Slc38a5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X14,213,727 - 14,222,498 (-)NCBI
Rnor_6.0 EnsemblX14,963,921 - 14,972,675 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X14,963,919 - 14,972,675 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X15,748,231 - 15,756,314 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X26,244,421 - 26,253,596 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X26,297,889 - 26,307,057 (-)NCBI
CeleraX14,299,226 - 14,307,991 (-)NCBICelera
Cytogenetic MapXq12NCBI
Slc38a5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495554316,089 - 24,668 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495554315,968 - 24,644 (-)NCBIChiLan1.0ChiLan1.0
SLC38A5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X48,621,018 - 48,632,682 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX48,621,018 - 48,632,682 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X40,756,423 - 40,768,327 (-)NCBIMhudiblu_PPA_v0panPan3
SLC38A5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X41,709,441 - 41,718,702 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX41,709,467 - 41,717,080 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX16,085,681 - 16,094,898 (-)NCBI
ROS_Cfam_1.0X41,845,558 - 41,854,816 (-)NCBI
UMICH_Zoey_3.1X41,832,556 - 41,841,772 (-)NCBI
UNSW_CanFamBas_1.0X41,820,836 - 41,830,050 (-)NCBI
UU_Cfam_GSD_1.0X41,914,395 - 41,923,619 (-)NCBI
Slc38a5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X34,178,875 - 34,200,906 (-)NCBI
SpeTri2.0NW_004936721419,286 - 441,224 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC38A5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX42,585,013 - 42,605,511 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X42,590,608 - 42,601,537 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X47,547,735 - 47,558,567 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC38A5
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X45,588,992 - 45,598,771 (-)NCBI
Vero_WHO_p1.0NW_02366607611,040,195 - 11,052,121 (-)NCBI
Slc38a5
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624893275,906 - 284,883 (-)NCBI

Position Markers
RH93254  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,316,943 - 48,317,024UniSTSGRCh37
Build 36X48,201,887 - 48,201,968RGDNCBI36
CeleraX53,348,711 - 53,348,792RGD
Cytogenetic MapXp11.23UniSTS
HuRefX45,981,084 - 45,981,165UniSTS
GeneMap99-GB4 RH MapX143.34UniSTS
DXS6949  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,329,722 - 48,329,898UniSTSGRCh37
Build 36X48,214,666 - 48,214,842RGDNCBI36
CeleraX53,335,837 - 53,336,013RGD
Cytogenetic MapXp11.23UniSTS
HuRefX45,993,912 - 45,994,088UniSTS
G21700  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,327,916 - 48,328,065UniSTSGRCh37
Build 36X48,212,860 - 48,213,009RGDNCBI36
CeleraX53,337,670 - 53,337,819RGD
Cytogenetic MapXp11.23UniSTS
HuRefX45,992,106 - 45,992,255UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4032
Count of miRNA genes:990
Interacting mature miRNAs:1243
Transcripts:ENST00000317669, ENST00000376875, ENST00000376876, ENST00000413668, ENST00000416711, ENST00000429543, ENST00000440085, ENST00000441948, ENST00000462359, ENST00000480105, ENST00000488083, ENST00000494034, ENST00000497336
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 entire extraembryonic component
High
Medium 439 743 675 59 1491 20 1084 56 1436 34 303 1322 47 55 397
Low 1934 1919 756 308 444 186 2271 1294 2222 252 1076 168 123 1119 1478 1
Below cutoff 58 322 290 251 12 254 986 840 57 121 67 111 2 30 912 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF196972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF276889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF318358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL606490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW183216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX534682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX534684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC027721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA089769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000413668   ⟹   ENSP00000403976
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,462,122 - 48,468,388 (-)Ensembl
RefSeq Acc Id: ENST00000416711   ⟹   ENSP00000389644
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,462,898 - 48,469,017 (-)Ensembl
RefSeq Acc Id: ENST00000429543   ⟹   ENSP00000416948
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,466,015 - 48,470,243 (-)Ensembl
RefSeq Acc Id: ENST00000440085   ⟹   ENSP00000402988
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,461,731 - 48,468,311 (-)Ensembl
RefSeq Acc Id: ENST00000441948   ⟹   ENSP00000407258
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,461,752 - 48,468,557 (-)Ensembl
RefSeq Acc Id: ENST00000480105
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,459,220 - 48,460,977 (-)Ensembl
RefSeq Acc Id: ENST00000488083   ⟹   ENSP00000483716
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,466,015 - 48,469,557 (-)Ensembl
RefSeq Acc Id: ENST00000494034   ⟹   ENSP00000482638
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,460,986 - 48,466,872 (-)Ensembl
RefSeq Acc Id: ENST00000497336
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,458,545 - 48,467,060 (-)Ensembl
RefSeq Acc Id: ENST00000595796   ⟹   ENSP00000471683
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,458,537 - 48,470,177 (-)Ensembl
RefSeq Acc Id: ENST00000615300
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,458,693 - 48,460,854 (-)Ensembl
RefSeq Acc Id: ENST00000619100   ⟹   ENSP00000478807
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,458,539 - 48,467,493 (-)Ensembl
RefSeq Acc Id: ENST00000620913   ⟹   ENSP00000481291
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,458,544 - 48,470,260 (-)Ensembl
RefSeq Acc Id: ENST00000622196   ⟹   ENSP00000484236
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,458,539 - 48,467,493 (-)Ensembl
RefSeq Acc Id: NM_033518   ⟹   NP_277053
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,458,544 - 48,470,260 (-)NCBI
GRCh37X48,316,927 - 48,328,644 (-)RGD
GRCh37X48,316,927 - 48,328,644 (-)NCBI
Build 36X48,201,871 - 48,213,509 (-)NCBI Archive
CeleraX53,337,091 - 53,348,808 (+)RGD
HuRefX45,981,061 - 45,992,834 (-)NCBI
CHM1_1X48,348,155 - 48,359,900 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005272694   ⟹   XP_005272751
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,458,544 - 48,469,051 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005272695   ⟹   XP_005272752
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,458,544 - 48,469,053 (-)NCBI
GRCh37X48,316,927 - 48,328,644 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005272697   ⟹   XP_005272754
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,458,544 - 48,468,424 (-)NCBI
GRCh37X48,316,927 - 48,328,644 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005272698   ⟹   XP_005272755
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,458,544 - 48,468,299 (-)NCBI
GRCh37X48,316,927 - 48,328,644 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006724569   ⟹   XP_006724632
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,458,546 - 48,470,256 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029960   ⟹   XP_016885449
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,458,544 - 48,468,393 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029961   ⟹   XP_016885450
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,458,544 - 48,468,307 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_277053   ⟸   NM_033518
- UniProtKB: Q8WUX1 (UniProtKB/Swiss-Prot),   A0A024QYY0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005272751   ⟸   XM_005272694
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005272752   ⟸   XM_005272695
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_005272754   ⟸   XM_005272697
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_005272755   ⟸   XM_005272698
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_006724632   ⟸   XM_006724569
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016885449   ⟸   XM_017029960
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016885450   ⟸   XM_017029961
- Peptide Label: isoform X6
- UniProtKB: Q8WUX1 (UniProtKB/Swiss-Prot),   A0A024QYY0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000481291   ⟸   ENST00000620913
RefSeq Acc Id: ENSP00000471683   ⟸   ENST00000595796
RefSeq Acc Id: ENSP00000484236   ⟸   ENST00000622196
RefSeq Acc Id: ENSP00000403976   ⟸   ENST00000413668
RefSeq Acc Id: ENSP00000416948   ⟸   ENST00000429543
RefSeq Acc Id: ENSP00000402988   ⟸   ENST00000440085
RefSeq Acc Id: ENSP00000482638   ⟸   ENST00000494034
RefSeq Acc Id: ENSP00000407258   ⟸   ENST00000441948
RefSeq Acc Id: ENSP00000389644   ⟸   ENST00000416711
RefSeq Acc Id: ENSP00000478807   ⟸   ENST00000619100
RefSeq Acc Id: ENSP00000483716   ⟸   ENST00000488083
Protein Domains
Aa_trans

Promoters
RGD ID:6809272
Promoter ID:HG_KWN:66667
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000060718,   OTTHUMT00000060719
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,203,906 - 48,205,287 (-)MPROMDB
RGD ID:6809273
Promoter ID:HG_KWN:66668
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:ENST00000376875,   OTTHUMT00000060721,   OTTHUMT00000060723
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,210,789 - 48,211,289 (-)MPROMDB
RGD ID:6808665
Promoter ID:HG_KWN:66669
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000317669,   NM_033518,   OTTHUMT00000060714,   OTTHUMT00000060715,   OTTHUMT00000060716,   OTTHUMT00000060717,   OTTHUMT00000060720,   OTTHUMT00000060722,   OTTHUMT00000060724
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,211,706 - 48,214,257 (-)MPROMDB
RGD ID:13605212
Promoter ID:EPDNEW_H28789
Type:initiation region
Name:SLC38A5_1
Description:solute carrier family 38 member 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28790  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,469,413 - 48,469,473EPDNEW
RGD ID:13605210
Promoter ID:EPDNEW_H28790
Type:initiation region
Name:SLC38A5_2
Description:solute carrier family 38 member 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28789  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,470,255 - 48,470,315EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical 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
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: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-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:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xp11.23-11.22(chrX:47859417-52789530)x3 copy number gain See cases [RCV000052390] ChrX:47859417..52789530 [GRCh38]
ChrX:47835880..52818575 [GRCh37]
ChrX:47603760..52835300 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48344666-52664916)x2 copy number gain See cases [RCV000051992] ChrX:48344666..52664916 [GRCh38]
ChrX:48204101..52616581 [GRCh37]
ChrX:48089045..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(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-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-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: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 Xp22.33-11.1(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 Xp22.33-11.21(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)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 Xp22.33-11.22(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_033518.3(SLC38A5):c.138G>A (p.Gly46=) single nucleotide variant Malignant melanoma [RCV000073202] ChrX:48467069 [GRCh38]
ChrX:48325456 [GRCh37]
ChrX:48210400 [NCBI36]
ChrX:Xp11.23
not provided
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
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:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xp22.33-11.23(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 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(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 Xp11.3-11.22(chrX:43361870-50931794)x3 copy number gain See cases [RCV000134956] ChrX:43361870..50931794 [GRCh38]
ChrX:43221119..50674794 [GRCh37]
ChrX:43106063..50691534 [NCBI36]
ChrX:Xp11.3-11.22
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 Xp11.23-11.22(chrX:48022053-52664916)x3 copy number gain See cases [RCV000135801] ChrX:48022053..52664916 [GRCh38]
ChrX:47881447..52616581 [GRCh37]
ChrX:47766391..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 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-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-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 Xp11.23-11.21(chrX:48344666-58055036)x3 copy number gain See cases [RCV000135958] ChrX:48344666..58055036 [GRCh38]
ChrX:48204101..58081470 [GRCh37]
ChrX:48089045..58098195 [NCBI36]
ChrX:Xp11.23-11.21
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-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 Xp11.23-11.22(chrX:48260861-52664916)x2 copy number gain See cases [RCV000136829] ChrX:48260861..52664916 [GRCh38]
ChrX:48120296..52616581 [GRCh37]
ChrX:48005240..52710691 [NCBI36]
ChrX:Xp11.23-11.22
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 Xp22.33-11.23(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 Xp22.33-11.23(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-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 Xp11.3-11.23(chrX:44765664-49343053)x3 copy number gain See cases [RCV000137271] ChrX:44765664..49343053 [GRCh38]
ChrX:44624910..49218180 [GRCh37]
ChrX:44509854..49105124 [NCBI36]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x3 copy number gain See cases [RCV000138106] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52616581 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x1 copy number loss See cases [RCV000138107] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52693966 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22
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 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
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-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-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 Xp11.23-11.22(chrX:48386298-52664916)x2 copy number gain See cases [RCV000139185] ChrX:48386298..52664916 [GRCh38]
ChrX:48245740..52616581 [GRCh37]
ChrX:48130684..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
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 Xp22.33-11.22(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 Xp11.3-11.22(chrX:46971389-54130971)x3 copy number gain See cases [RCV000141567] ChrX:46971389..54130971 [GRCh38]
ChrX:46818746..53957191 [GRCh37]
ChrX:46703690..54174129 [NCBI36]
ChrX:Xp11.3-11.22
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-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-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
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
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_033518.4(SLC38A5):c.806T>C (p.Phe269Ser) single nucleotide variant Abnormality of neuronal migration [RCV000201351] ChrX:48461763 [GRCh38]
ChrX:48320149 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-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 Xp11.23-11.22(chrX:48310313-52614698)x1 copy number loss See cases [RCV000203435] ChrX:48310313..52614698 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
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: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-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x3 copy number gain See cases [RCV000449147] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22
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 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.22(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:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23(chrX:48300928-48578333)x3 copy number gain See cases [RCV000447325] ChrX:48300928..48578333 [GRCh37]
ChrX:Xp11.23
uncertain significance
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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [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 Xp11.23-11.22(chrX:48317353-51497588)x2 copy number gain See cases [RCV000447617] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22
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: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 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_033518.4(SLC38A5):c.1352T>C (p.Met451Thr) single nucleotide variant not specified [RCV000454510] ChrX:48459000 [GRCh38]
ChrX:48317386 [GRCh37]
ChrX:Xp11.23
benign
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-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
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 Xp22.33-11.21(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 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3-11.23(chrX:46326268-48801984)x2 copy number gain See cases [RCV000511234] ChrX:46326268..48801984 [GRCh37]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622) copy number gain not provided [RCV000767648] ChrX:43507300..48929622 [GRCh37]
ChrX:Xp11.3-11.23
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48224454-52813336)x3 copy number gain See cases [RCV000512224] ChrX:48224454..52813336 [GRCh37]
ChrX:Xp11.23-11.22
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 Xp11.23-11.22(chrX:48290189-52154997)x4 copy number gain See cases [RCV000512561] ChrX:48290189..52154997 [GRCh37]
ChrX:Xp11.23-11.22
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 Xp22.31-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 Xp11.23-11.22(chrX:48156672-52672728)x1 copy number loss not provided [RCV000684331] ChrX:48156672..52672728 [GRCh37]
ChrX:Xp11.23-11.22
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 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xp11.23(chrX:48316843-48328279)x2 copy number gain not provided [RCV000753536] ChrX:48316843..48328279 [GRCh37]
ChrX:Xp11.23
benign
GRCh37/hg19 Xp11.23(chrX:48317386-48328279)x2 copy number gain not provided [RCV000753537] ChrX:48317386..48328279 [GRCh37]
ChrX:Xp11.23
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:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
NM_033518.4(SLC38A5):c.517C>G (p.Leu173Val) single nucleotide variant Esophageal atresia [RCV000984684] ChrX:48462955 [GRCh38]
ChrX:48321340 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
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 Xp11.23-11.22(chrX:48224266-52744574)x2 copy number gain not provided [RCV000847795] ChrX:48224266..52744574 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp11.23(chrX:48182541-48630992)x3 copy number gain not provided [RCV000848540] ChrX:48182541..48630992 [GRCh37]
ChrX:Xp11.23
uncertain significance
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-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48307437-50657313)x3 copy number gain not provided [RCV001007303] ChrX:48307437..50657313 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp11.23(chrX:48237630-48590047)x2 copy number gain not provided [RCV001007302] ChrX:48237630..48590047 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48102202-52685635)x2 copy number gain not provided [RCV001258953] ChrX:48102202..52685635 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48178413-52686510)x2 copy number gain not provided [RCV001258954] ChrX:48178413..52686510 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_033518.4(SLC38A5):c.406G>A (p.Val136Ile) single nucleotide variant none provided [RCV001285316] ChrX:48466236 [GRCh38]
ChrX:48324623 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.23(chrX:48225025-48601326)x1 copy number loss not provided [RCV001258949] ChrX:48225025..48601326 [GRCh37]
ChrX:Xp11.23
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:18070 AgrOrtholog
COSMIC SLC38A5 COSMIC
Ensembl Genes ENSG00000017483 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000389644 UniProtKB/TrEMBL
  ENSP00000402988 UniProtKB/TrEMBL
  ENSP00000403976 UniProtKB/TrEMBL
  ENSP00000407258 UniProtKB/TrEMBL
  ENSP00000416948 UniProtKB/TrEMBL
  ENSP00000471683 UniProtKB/Swiss-Prot
  ENSP00000478807 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000481291 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000482638 UniProtKB/TrEMBL
  ENSP00000483716 UniProtKB/TrEMBL
  ENSP00000484236 UniProtKB/TrEMBL
Ensembl Transcript ENST00000413668 UniProtKB/TrEMBL
  ENST00000416711 UniProtKB/TrEMBL
  ENST00000429543 UniProtKB/TrEMBL
  ENST00000440085 UniProtKB/TrEMBL
  ENST00000441948 UniProtKB/TrEMBL
  ENST00000488083 UniProtKB/TrEMBL
  ENST00000494034 UniProtKB/TrEMBL
  ENST00000595796 UniProtKB/Swiss-Prot
  ENST00000619100 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000620913 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000622196 UniProtKB/TrEMBL
GTEx ENSG00000017483 GTEx
HGNC ID HGNC:18070 ENTREZGENE
Human Proteome Map SLC38A5 Human Proteome Map
InterPro AA_transpt_TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:92745 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 92745 ENTREZGENE
OMIM 300649 OMIM
Pfam Aa_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38289 PharmGKB
UniProt A0A024QYY0 ENTREZGENE, UniProtKB/TrEMBL
  A0A087WZF9_HUMAN UniProtKB/TrEMBL
  A0A087X1I6_HUMAN UniProtKB/TrEMBL
  C9JHH7_HUMAN UniProtKB/TrEMBL
  C9JJU1_HUMAN UniProtKB/TrEMBL
  C9JMY2_HUMAN UniProtKB/TrEMBL
  C9JNK4_HUMAN UniProtKB/TrEMBL
  C9JWG4_HUMAN UniProtKB/TrEMBL
  Q8WUX1 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B3KT20 UniProtKB/Swiss-Prot
  B5MDE6 UniProtKB/Swiss-Prot
  B7WPJ9 UniProtKB/Swiss-Prot
  Q6PIW9 UniProtKB/Swiss-Prot
  Q8WYU2 UniProtKB/Swiss-Prot
  Q96PQ4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 SLC38A5  solute carrier family 38 member 5    solute carrier family 38, member 5  Symbol and/or name change 5135510 APPROVED