SLC10A3 (solute carrier family 10 member 3) - Rat Genome Database

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Gene: SLC10A3 (solute carrier family 10 member 3) Homo sapiens
Analyze
Symbol: SLC10A3
Name: solute carrier family 10 member 3
RGD ID: 1354490
HGNC Page HGNC:22979
Description: Predicted to enable bile acid:sodium symporter activity. Predicted to be involved in bile acid and bile salt transport. Predicted to act upstream of or within response to retinoic acid. Predicted to be located in membrane. Predicted to be part of BAT3 complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DXS253E; P3; solute carrier family 10 (sodium/bile acid cotransporter family), member 3; solute carrier family 10, member 3
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
GRCh38X154,487,311 - 154,490,629 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX154,487,306 - 154,490,690 (-)EnsemblGRCh38hg38GRCh38
GRCh37X153,715,650 - 153,718,968 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,368,842 - 153,372,189 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X153,279,351 - 153,282,699NCBI
CeleraX153,876,701 - 153,880,053 (-)NCBICelera
Cytogenetic MapXq28NCBI
HuRefX142,292,818 - 142,296,107 (-)NCBIHuRef
CHM1_1X153,627,295 - 153,630,647 (-)NCBICHM1_1
T2T-CHM13v2.0X152,723,820 - 152,727,138 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
membrane  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1354645   PMID:3186440   PMID:8733135   PMID:8889548   PMID:11076863   PMID:11256614   PMID:12477932   PMID:15342556   PMID:15489336   PMID:16381901   PMID:16541252   PMID:17567994  
PMID:19322201   PMID:21873635   PMID:21988832   PMID:28986522   PMID:32393512   PMID:35748872  


Genomics

Comparative Map Data
SLC10A3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X154,487,311 - 154,490,629 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX154,487,306 - 154,490,690 (-)EnsemblGRCh38hg38GRCh38
GRCh37X153,715,650 - 153,718,968 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,368,842 - 153,372,189 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X153,279,351 - 153,282,699NCBI
CeleraX153,876,701 - 153,880,053 (-)NCBICelera
Cytogenetic MapXq28NCBI
HuRefX142,292,818 - 142,296,107 (-)NCBIHuRef
CHM1_1X153,627,295 - 153,630,647 (-)NCBICHM1_1
T2T-CHM13v2.0X152,723,820 - 152,727,138 (-)NCBIT2T-CHM13v2.0
Slc10a3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X73,412,823 - 73,416,955 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX73,412,823 - 73,416,955 (-)EnsemblGRCm39 Ensembl
GRCm38X74,369,217 - 74,373,349 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX74,369,217 - 74,373,349 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X71,614,556 - 71,618,595 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X70,621,937 - 70,625,976 (-)NCBIMGSCv36mm8
CeleraX65,623,032 - 65,627,071 (-)NCBICelera
Cytogenetic MapXA7.3NCBI
cM MapX38.0NCBI
Slc10a3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X157,306,043 - 157,309,849 (-)NCBIGRCr8
mRatBN7.2X152,154,757 - 152,158,563 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX152,151,076 - 152,162,958 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX154,295,882 - 154,299,688 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X157,858,689 - 157,862,495 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X155,530,915 - 155,534,721 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X156,335,385 - 156,340,256 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX156,336,450 - 156,340,234 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01152,075,855 - 152,080,393 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X160,234,831 - 160,238,637 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1135,738,093 - 135,741,899 (+)NCBICelera
Cytogenetic MapXq37NCBI
Slc10a3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555801,002,029 - 1,005,673 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555801,002,029 - 1,005,673 (-)NCBIChiLan1.0ChiLan1.0
SLC10A3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X154,461,710 - 154,465,039 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X154,465,314 - 154,468,644 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X143,929,086 - 143,932,406 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X153,800,354 - 153,803,680 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX153,800,354 - 153,803,653 (-)Ensemblpanpan1.1panPan2
SLC10A3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X122,197,049 - 122,201,103 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX122,197,289 - 122,200,219 (-)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X125,338,706 - 125,342,598 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX125,338,711 - 125,342,615 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X121,107,704 - 121,111,596 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X123,622,782 - 123,626,674 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X123,384,553 - 123,388,446 (-)NCBIUU_Cfam_GSD_1.0
Slc10a3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X119,504,209 - 119,508,247 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049368091,241,986 - 1,246,266 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049368091,241,980 - 1,245,986 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC10A3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX125,010,131 - 125,011,928 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X125,010,128 - 125,013,992 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X143,571,480 - 143,575,323 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLC10A3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X128,736,793 - 128,741,400 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX128,736,991 - 128,738,424 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606566,725,602 - 66,729,241 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc10a3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624946959,051 - 960,502 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624946958,850 - 961,163 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC10A3
14 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:150036146-156022206)x3 copy number gain See cases [RCV000050946] ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq28(chrX:149989929-156022206)x3 copy number gain See cases [RCV000050657] ChrX:149989929..156022206 [GRCh38]
ChrX:149158160..155251871 [GRCh37]
ChrX:148908818..154905065 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28		 pathogenic
GRCh38/hg38 Xq28(chrX:153296806-155699618)x1 copy number loss See cases [RCV000051750] ChrX:153296806..155699618 [GRCh38]
ChrX:152568327..154929279 [GRCh37]
ChrX:152215458..154582473 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28		 pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28		 pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28		 pathogenic
GRCh38/hg38 Xq28(chrX:154394598-154554969)x1 copy number loss See cases [RCV000051760] ChrX:154394598..154554969 [GRCh38]
ChrX:153622940..153783184 [GRCh37]
ChrX:153276134..153436378 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:153932045-155611794)x3 copy number gain See cases [RCV000052529] ChrX:153932045..155611794 [GRCh38]
ChrX:152850692..154494649 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] ChrX:152932818..156022206 [GRCh38]
ChrX:152173071..155251871 [GRCh37]
ChrX:151852018..154905065 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 copy number gain See cases [RCV000052491] ChrX:153395425..155687381 [GRCh38]
ChrX:152314077..154570236 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 copy number gain See cases [RCV000052474] ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:154336596-154642063)x2 copy number gain See cases [RCV000054320] ChrX:154336596..154642063 [GRCh38]
ChrX:153564946..153870337 [GRCh37]
ChrX:153218140..153523531 [NCBI36]
ChrX:Xq28		 uncertain significance
GRCh38/hg38 Xq28(chrX:154348522-154594454)x2 copy number gain See cases [RCV000054321] ChrX:154348522..154594454 [GRCh38]
ChrX:153576890..153822717 [GRCh37]
ChrX:153230084..153475911 [NCBI36]
ChrX:Xq28		 uncertain significance
GRCh38/hg38 Xq28(chrX:154394598-154626056)x2 copy number gain See cases [RCV000054322] ChrX:154394598..154626056 [GRCh38]
ChrX:153622940..153854307 [GRCh37]
ChrX:153276134..153507501 [NCBI36]
ChrX:Xq28		 uncertain significance
NM_019848.4(SLC10A3):c.1237C>A (p.Gln413Lys) single nucleotide variant Malignant melanoma [RCV000063953] ChrX:154487704 [GRCh38]
ChrX:153716043 [GRCh37]
ChrX:153369237 [NCBI36]
ChrX:Xq28		 not provided
GRCh37/hg19 Xq28(chrX:153576750-154563104)x1 copy number loss See cases [RCV000663390] ChrX:153576750..154563104 [GRCh37]
ChrX:Xq28		 pathogenic
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 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 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 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28		 pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xq28(chrX:153296806-154604471)x2 copy number gain See cases [RCV000135451] ChrX:153296806..154604471 [GRCh38]
ChrX:152568327..153832724 [GRCh37]
ChrX:152215458..153485918 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28		 pathogenic
GRCh38/hg38 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 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xq28(chrX:153322656-155522304)x2 copy number gain See cases [RCV000136716] ChrX:153322656..155522304 [GRCh38]
ChrX:152864376..154751965 [GRCh37]
ChrX:152241308..154405159 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:151750863-155522304)x1 copy number loss See cases [RCV000136718] ChrX:151750863..155522304 [GRCh38]
ChrX:150919335..154751965 [GRCh37]
ChrX:150669991..154405159 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:153276277-156003242)x3 copy number gain See cases [RCV000137498] ChrX:153276277..156003242 [GRCh38]
ChrX:152465185..155232907 [GRCh37]
ChrX:152118379..154886101 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28		 pathogenic
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28		 pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28		 pathogenic|uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28		 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28		 pathogenic
GRCh38/hg38 Xq28(chrX:153727116-154555423)x2 copy number gain See cases [RCV000138393] ChrX:153727116..154555423 [GRCh38]
ChrX:153333946..153783638 [GRCh37]
ChrX:152645765..153436832 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28		 pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:154348522-154770053)x2 copy number gain See cases [RCV000140492] ChrX:154348522..154770053 [GRCh38]
ChrX:153576890..153998328 [GRCh37]
ChrX:153230084..153651522 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28		 pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28		 pathogenic
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 copy number gain See cases [RCV000143002] ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28		 pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
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
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 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28		 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-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq28(chrX:153627408-154089925)x2 copy number gain See cases [RCV000240046] ChrX:153627408..154089925 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 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: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 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
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 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28		 pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Xq28(chrX:152228560-154930047)x2 copy number gain See cases [RCV000447331] ChrX:152228560..154930047 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28		 pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq28(chrX:150253008-155233731)x1 copy number loss See cases [RCV000446761] ChrX:150253008..155233731 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
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 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28		 pathogenic
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 copy number gain See cases [RCV000510478] ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28		 pathogenic|uncertain significance
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28		 pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 copy number loss See cases [RCV000511228] ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq28(chrX:151963528-155233731)x1 copy number loss See cases [RCV000510866] ChrX:151963528..155233731 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 copy number loss See cases [RCV000510920] ChrX:151311551..155233731 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28		 pathogenic
NM_019848.5(SLC10A3):c.541A>G (p.Ser181Gly) single nucleotide variant Inborn genetic diseases [RCV003261342] ChrX:154488400 [GRCh38]
ChrX:153716739 [GRCh37]
ChrX:Xq28		 likely benign
NC_000023.10:g.(?_153295726)_(153786885_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000645139] ChrX:153295726..153786885 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28		 pathogenic
GRCh37/hg19 Xq28(chrX:153581543-153858492)x2 copy number gain not provided [RCV000684413] ChrX:153581543..153858492 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:153621005-153868484)x4 copy number gain not provided [RCV000684414] ChrX:153621005..153868484 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28		 pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28		 pathogenic
GRCh37/hg19 Xq28(chrX:153560741-153761134)x2 copy number gain not provided [RCV000684744] ChrX:153560741..153761134 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:153560741-153858492)x2,3 copy number gain not provided [RCV000684745] ChrX:153560741..153858492 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:153609873-153815499)x3 copy number gain not provided [RCV000847592] ChrX:153609873..153815499 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xq28(chrX:153675171-153717512)x3 copy number gain not provided [RCV000753939] ChrX:153675171..153717512 [GRCh37]
ChrX:Xq28		 benign
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28		 pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
NC_000023.10:g.(?_152954020)_(154096327_?)del deletion Adrenoleukodystrophy [RCV000815921] ChrX:152954020..154096327 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xq28(chrX:153556428-153868487)x2 copy number gain not provided [RCV000845970] ChrX:153556428..153868487 [GRCh37]
ChrX:Xq28		 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 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28		 likely pathogenic
GRCh37/hg19 Xq28(chrX:153566612-153731506)x2 copy number gain not provided [RCV000847027] ChrX:153566612..153731506 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28		 uncertain significance
GRCh37/hg19 Xq28(chrX:153566798-153748208)x4 copy number gain Chromosome Xq28 duplication syndrome [RCV003313724] ChrX:153566798..153748208 [GRCh37]
ChrX:Xq28		 not provided
NC_000023.10:g.(?_152014869)_(154563736_?)del deletion Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003122393]|Dyskeratosis congenita [RCV003105406]|not provided [RCV003105407] ChrX:152014869..154563736 [GRCh37]
ChrX:Xq28		 pathogenic|uncertain significance|no classifications from unflagged records
NC_000023.10:g.(?_153585782)_(153775961_?)dup duplication Heterotopia, periventricular, X-linked dominant [RCV003107407] ChrX:153585782..153775961 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_019848.5(SLC10A3):c.1095C>T (p.Gly365=) single nucleotide variant not provided [RCV000962823] ChrX:154487846 [GRCh38]
ChrX:153716185 [GRCh37]
ChrX:Xq28		 benign
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq28(chrX:153263517-155260560)x2 copy number gain Intellectual disability [RCV001638056] ChrX:153263517..155260560 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq28(chrX:152372767-155233731) copy number gain Chromosome Xq28 duplication syndrome [RCV002280621]|Syndromic X-linked intellectual disability Lubs type [RCV002280620] ChrX:152372767..155233731 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1 copy number loss See cases [RCV002285075] ChrX:77670699..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
NC_000023.10:g.(?_152014869)_(155171615_?)del deletion 3-Methylglutaconic aciduria type 2 [RCV003119101]|Adrenoleukodystrophy [RCV003119100]|Creatine transporter deficiency [RCV003119103]|Heterotopia, periventricular, X-linked dominant [RCV003109218]|Spastic paraplegia [RCV003109219]|X-linked Emery-Dreifuss muscular dystrophy [RCV003119102] ChrX:152014869..155171615 [GRCh37]
ChrX:Xq28		 pathogenic
NC_000023.10:g.(?_153640181)_(153775961_?)dup duplication 3-Methylglutaconic aciduria type 2 [RCV003119319]|Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003119320]|not provided [RCV003109229] ChrX:153640181..153775961 [GRCh37]
ChrX:Xq28		 uncertain significance|no classifications from unflagged records
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV001839062] ChrX:140888048..154656872 [GRCh38]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xq28(chrX:153093501-153792322)x2 copy number gain not provided [RCV001834439] ChrX:153093501..153792322 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NC_000023.10:g.(?_153688524)_(155171615_?)del deletion not provided [RCV002011857] ChrX:153688524..155171615 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.10:g.(?_153001546)_(154563736_?)dup duplication Adrenoleukodystrophy [RCV003119108] ChrX:153001546..154563736 [GRCh37]
ChrX:Xq28		 uncertain significance
Single allele deletion Immunodeficiency 33 [RCV002247742]|Splenomegaly [RCV002247743] ChrX:153427468..156004919 [GRCh38]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) copy number loss Turner syndrome [RCV002280672] ChrX:62685885..155233731 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xq28(chrX:153529891-155114697)x3 copy number gain not provided [RCV002265532] ChrX:153529891..155114697 [GRCh37]
ChrX:Xq28		 not provided
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xq27.3-28(chrX:142401540-155233731)x1 copy number loss See cases [RCV002292203] ChrX:142401540..155233731 [GRCh37]
ChrX:Xq27.3-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1 copy number loss not provided [RCV002474567] ChrX:124749464..155233731 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xq28(chrX:153613883-155233731)x2 copy number gain not provided [RCV002472481] ChrX:153613883..155233731 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:153560562-153864851)x3 copy number gain Septo-optic dysplasia sequence [RCV002305872] ChrX:153560562..153864851 [GRCh37]
ChrX:Xq28		 likely pathogenic
NM_019848.5(SLC10A3):c.1312C>T (p.Arg438Cys) single nucleotide variant Inborn genetic diseases [RCV002968232] ChrX:154487629 [GRCh38]
ChrX:153715968 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_019848.5(SLC10A3):c.379G>A (p.Gly127Ser) single nucleotide variant Inborn genetic diseases [RCV002689949] ChrX:154488562 [GRCh38]
ChrX:153716901 [GRCh37]
ChrX:Xq28		 likely benign
NM_019848.5(SLC10A3):c.1168A>G (p.Ile390Val) single nucleotide variant Inborn genetic diseases [RCV002737042] ChrX:154487773 [GRCh38]
ChrX:153716112 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_019848.5(SLC10A3):c.922C>T (p.Arg308Cys) single nucleotide variant Inborn genetic diseases [RCV002848856] ChrX:154488019 [GRCh38]
ChrX:153716358 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_019848.5(SLC10A3):c.164G>A (p.Gly55Asp) single nucleotide variant Inborn genetic diseases [RCV002978046] ChrX:154488777 [GRCh38]
ChrX:153717116 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_019848.5(SLC10A3):c.1196T>C (p.Val399Ala) single nucleotide variant Inborn genetic diseases [RCV002844535] ChrX:154487745 [GRCh38]
ChrX:153716084 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_019848.5(SLC10A3):c.22G>T (p.Gly8Cys) single nucleotide variant Inborn genetic diseases [RCV002694404] ChrX:154488919 [GRCh38]
ChrX:153717258 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_019848.5(SLC10A3):c.1136C>T (p.Ala379Val) single nucleotide variant Inborn genetic diseases [RCV002983414]|not provided [RCV003435937] ChrX:154487805 [GRCh38]
ChrX:153716144 [GRCh37]
ChrX:Xq28		 likely benign|uncertain significance
NM_019848.5(SLC10A3):c.1118T>C (p.Met373Thr) single nucleotide variant Inborn genetic diseases [RCV002965044] ChrX:154487823 [GRCh38]
ChrX:153716162 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_019848.5(SLC10A3):c.544G>A (p.Ala182Thr) single nucleotide variant Inborn genetic diseases [RCV002961843] ChrX:154488397 [GRCh38]
ChrX:153716736 [GRCh37]
ChrX:Xq28		 likely benign
NM_019848.5(SLC10A3):c.488G>A (p.Arg163Gln) single nucleotide variant Inborn genetic diseases [RCV002672573] ChrX:154488453 [GRCh38]
ChrX:153716792 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq28(chrX:152916854-154775938)x2 copy number gain not provided [RCV003483986] ChrX:152916854..154775938 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1 copy number loss not provided [RCV003483929] ChrX:118576752..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1 copy number loss not provided [RCV003483930] ChrX:119071609..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
GRCh37/hg19 Xq28(chrX:148598351-154943978)x1 copy number loss not provided [RCV003483936] ChrX:148598351..154943978 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:153549167-153858492)x2 copy number gain not provided [RCV003483990] ChrX:153549167..153858492 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:153606456-153828848)x2 copy number gain not provided [RCV003483991] ChrX:153606456..153828848 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:153613883-153862775)x3 copy number gain not provided [RCV003485333] ChrX:153613883..153862775 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731) copy number loss not specified [RCV003986202] ChrX:103405294..155233731 [GRCh37]
ChrX:Xq22.2-28		 pathogenic
GRCh37/hg19 Xq28(chrX:153714300-153868484) copy number gain not specified [RCV003986228] ChrX:153714300..153868484 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq24-28(chrX:119395676-154930047) copy number loss not specified [RCV003986220] ChrX:119395676..154930047 [GRCh37]
ChrX:Xq24-28		 pathogenic
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3 copy number gain not provided [RCV003885530] ChrX:67292994..155240074 [GRCh37]
ChrX:Xq12-28		 pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957) copy number gain Syndromic X-linked intellectual disability Lubs type [RCV003214133] ChrX:139586015..154774957 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28		 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1616
Count of miRNA genes:474
Interacting mature miRNAs:509
Transcripts:ENST00000263512, ENST00000369649, ENST00000393586, ENST00000393587, ENST00000453912
Prediction methods:Microtar, 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.

Markers in Region
DXS7067  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,718,418 - 153,718,553UniSTSGRCh37
Build 36X153,371,612 - 153,371,747RGDNCBI36
CeleraX153,879,469 - 153,879,604RGD
Cytogenetic MapXq28UniSTS
HuRefX142,295,523 - 142,295,658UniSTS
ECD00984  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,716,070 - 153,716,952UniSTSGRCh37
Build 36X153,369,264 - 153,370,146RGDNCBI36
CeleraX153,877,121 - 153,878,003RGD
Cytogenetic MapXq28UniSTS
HuRefX142,293,174 - 142,294,057UniSTS
ECD01789  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,717,022 - 153,717,875UniSTSGRCh37
Build 36X153,370,216 - 153,371,069RGDNCBI36
CeleraX153,878,073 - 153,878,926RGD
Cytogenetic MapXq28UniSTS
HuRefX142,294,127 - 142,294,980UniSTS
ECD02822  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,715,208 - 153,716,024UniSTSGRCh37
Build 36X153,368,402 - 153,369,218RGDNCBI36
CeleraX153,876,259 - 153,877,075RGD
Cytogenetic MapXq28UniSTS
ECD04748  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,717,958 - 153,718,713UniSTSGRCh37
Build 36X153,371,152 - 153,371,907RGDNCBI36
CeleraX153,879,009 - 153,879,764RGD
Cytogenetic MapXq28UniSTS
HuRefX142,295,063 - 142,295,818UniSTS
ECD17567  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,719,066 - 153,719,459UniSTSGRCh37
Build 36X153,372,260 - 153,372,653RGDNCBI36
CeleraX153,880,117 - 153,880,510RGD
Cytogenetic MapXq28UniSTS
HuRefX142,296,171 - 142,296,564UniSTS
ECD18669  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,719,784 - 153,720,135UniSTSGRCh37
Build 36X153,372,978 - 153,373,329RGDNCBI36
CeleraX153,880,835 - 153,881,186RGD
Cytogenetic MapXq28UniSTS
HuRefX142,296,889 - 142,297,240UniSTS
REN89772  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,715,207 - 153,715,440UniSTSGRCh37
Build 36X153,368,401 - 153,368,634RGDNCBI36
CeleraX153,876,258 - 153,876,491RGD
Cytogenetic MapXq28UniSTS
REN89773  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,715,392 - 153,715,651UniSTSGRCh37
Build 36X153,368,586 - 153,368,845RGDNCBI36
CeleraX153,876,443 - 153,876,702RGD
Cytogenetic MapXq28UniSTS
REN89774  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,715,642 - 153,715,881UniSTSGRCh37
Build 36X153,368,836 - 153,369,075RGDNCBI36
CeleraX153,876,693 - 153,876,932RGD
Cytogenetic MapXq28UniSTS
REN89775  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,715,858 - 153,716,128UniSTSGRCh37
Build 36X153,369,052 - 153,369,322RGDNCBI36
CeleraX153,876,909 - 153,877,179RGD
Cytogenetic MapXq28UniSTS
HuRefX142,292,962 - 142,293,232UniSTS
REN89776  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,716,106 - 153,716,379UniSTSGRCh37
Build 36X153,369,300 - 153,369,573RGDNCBI36
CeleraX153,877,157 - 153,877,430RGD
Cytogenetic MapXq28UniSTS
HuRefX142,293,210 - 142,293,483UniSTS
REN89777  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,716,327 - 153,716,583UniSTSGRCh37
Build 36X153,369,521 - 153,369,777RGDNCBI36
CeleraX153,877,378 - 153,877,634RGD
Cytogenetic MapXq28UniSTS
HuRefX142,293,431 - 142,293,687UniSTS
REN89778  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,716,560 - 153,716,806UniSTSGRCh37
Build 36X153,369,754 - 153,370,000RGDNCBI36
CeleraX153,877,611 - 153,877,857RGD
Cytogenetic MapXq28UniSTS
HuRefX142,293,664 - 142,293,910UniSTS
REN89779  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,716,769 - 153,717,027UniSTSGRCh37
Build 36X153,369,963 - 153,370,221RGDNCBI36
CeleraX153,877,820 - 153,878,078RGD
Cytogenetic MapXq28UniSTS
HuRefX142,293,873 - 142,294,132UniSTS
REN89780  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,716,951 - 153,717,216UniSTSGRCh37
Build 36X153,370,145 - 153,370,410RGDNCBI36
CeleraX153,878,002 - 153,878,267RGD
Cytogenetic MapXq28UniSTS
HuRefX142,294,056 - 142,294,321UniSTS
REN89781  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,717,191 - 153,717,450UniSTSGRCh37
Build 36X153,370,385 - 153,370,644RGDNCBI36
CeleraX153,878,242 - 153,878,501RGD
Cytogenetic MapXq28UniSTS
HuRefX142,294,296 - 142,294,555UniSTS
REN89782  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,717,447 - 153,717,697UniSTSGRCh37
Build 36X153,370,641 - 153,370,891RGDNCBI36
CeleraX153,878,498 - 153,878,748RGD
Cytogenetic MapXq28UniSTS
HuRefX142,294,552 - 142,294,802UniSTS
REN89783  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,717,686 - 153,717,949UniSTSGRCh37
Build 36X153,370,880 - 153,371,143RGDNCBI36
CeleraX153,878,737 - 153,879,000RGD
Cytogenetic MapXq28UniSTS
HuRefX142,294,791 - 142,295,054UniSTS
REN89784  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,717,917 - 153,718,177UniSTSGRCh37
Build 36X153,371,111 - 153,371,371RGDNCBI36
CeleraX153,878,968 - 153,879,228RGD
Cytogenetic MapXq28UniSTS
HuRefX142,295,022 - 142,295,282UniSTS
REN89785  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,718,168 - 153,718,427UniSTSGRCh37
Build 36X153,371,362 - 153,371,621RGDNCBI36
CeleraX153,879,219 - 153,879,478RGD
Cytogenetic MapXq28UniSTS
HuRefX142,295,273 - 142,295,532UniSTS
REN89786  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,718,416 - 153,718,669UniSTSGRCh37
Build 36X153,371,610 - 153,371,863RGDNCBI36
CeleraX153,879,467 - 153,879,720RGD
Cytogenetic MapXq28UniSTS
HuRefX142,295,521 - 142,295,774UniSTS
REN89787  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,718,479 - 153,718,714UniSTSGRCh37
Build 36X153,371,673 - 153,371,908RGDNCBI36
CeleraX153,879,530 - 153,879,765RGD
Cytogenetic MapXq28UniSTS
HuRefX142,295,584 - 142,295,819UniSTS
REN89788  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,718,694 - 153,718,944UniSTSGRCh37
Build 36X153,371,888 - 153,372,138RGDNCBI36
CeleraX153,879,745 - 153,879,995RGD
Cytogenetic MapXq28UniSTS
HuRefX142,295,799 - 142,296,049UniSTS
REN89789  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,719,065 - 153,719,308UniSTSGRCh37
Build 36X153,372,259 - 153,372,502RGDNCBI36
CeleraX153,880,116 - 153,880,359RGD
Cytogenetic MapXq28UniSTS
HuRefX142,296,170 - 142,296,413UniSTS
REN89790  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,719,203 - 153,719,448UniSTSGRCh37
Build 36X153,372,397 - 153,372,642RGDNCBI36
CeleraX153,880,254 - 153,880,499RGD
Cytogenetic MapXq28UniSTS
HuRefX142,296,308 - 142,296,553UniSTS
REN89791  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,719,386 - 153,719,614UniSTSGRCh37
Build 36X153,372,580 - 153,372,808RGDNCBI36
CeleraX153,880,437 - 153,880,665RGD
Cytogenetic MapXq28UniSTS
HuRefX142,296,491 - 142,296,719UniSTS
REN89792  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,719,577 - 153,719,837UniSTSGRCh37
Build 36X153,372,771 - 153,373,031RGDNCBI36
CeleraX153,880,628 - 153,880,888RGD
Cytogenetic MapXq28UniSTS
HuRefX142,296,682 - 142,296,942UniSTS
REN89793  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,719,814 - 153,720,066UniSTSGRCh37
Build 36X153,373,008 - 153,373,260RGDNCBI36
CeleraX153,880,865 - 153,881,117RGD
Cytogenetic MapXq28UniSTS
HuRefX142,296,919 - 142,297,171UniSTS
REN89794  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,720,005 - 153,720,254UniSTSGRCh37
Build 36X153,373,199 - 153,373,448RGDNCBI36
CeleraX153,881,056 - 153,881,305RGD
Cytogenetic MapXq28UniSTS
HuRefX142,297,110 - 142,297,359UniSTS
REN89795  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,720,393 - 153,720,650UniSTSGRCh37
Build 36X153,373,587 - 153,373,844RGDNCBI36
CeleraX153,881,444 - 153,881,701RGD
Cytogenetic MapXq28UniSTS
HuRefX142,297,498 - 142,297,755UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2405 2656 1390 291 1865 137 3982 1617 1354 394 1432 1599 168 1 1204 2442 5
Low 34 335 336 333 86 328 375 580 2380 25 28 14 7 346 1 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_019848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005277913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC244090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG327309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM981524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP281642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX401493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX664739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB460327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ655958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ655959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY035183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY098516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L44140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X12458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000263512   ⟹   ENSP00000263512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,487,306 - 154,490,690 (-)Ensembl
RefSeq Acc Id: ENST00000369649   ⟹   ENSP00000358663
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,487,306 - 154,490,614 (-)Ensembl
RefSeq Acc Id: ENST00000393586   ⟹   ENSP00000377211
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,487,311 - 154,490,628 (-)Ensembl
RefSeq Acc Id: ENST00000393587   ⟹   ENSP00000377212
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,487,343 - 154,490,663 (-)Ensembl
RefSeq Acc Id: ENST00000453912   ⟹   ENSP00000395702
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,488,287 - 154,490,677 (-)Ensembl
RefSeq Acc Id: ENST00000651600   ⟹   ENSP00000499188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,487,311 - 154,490,629 (-)Ensembl
RefSeq Acc Id: NM_001142391   ⟹   NP_001135863
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,487,311 - 154,490,629 (-)NCBI
GRCh37X153,715,645 - 153,719,002 (-)NCBI
CeleraX153,876,701 - 153,880,053 (-)RGD
HuRefX142,292,818 - 142,296,134 (-)NCBI
CHM1_1X153,627,290 - 153,630,674 (-)NCBI
T2T-CHM13v2.0X152,723,820 - 152,727,138 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001142392   ⟹   NP_001135864
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,487,311 - 154,490,629 (-)NCBI
GRCh37X153,715,645 - 153,719,002 (-)NCBI
CeleraX153,876,701 - 153,880,053 (-)RGD
HuRefX142,292,818 - 142,296,134 (-)NCBI
CHM1_1X153,627,290 - 153,630,674 (-)NCBI
T2T-CHM13v2.0X152,723,820 - 152,727,138 (-)NCBI
Sequence:
RefSeq Acc Id: NM_019848   ⟹   NP_062822
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,487,311 - 154,490,629 (-)NCBI
GRCh37X153,715,645 - 153,719,002 (-)NCBI
Build 36X153,368,842 - 153,372,189 (-)NCBI Archive
CeleraX153,876,701 - 153,880,053 (-)RGD
HuRefX142,292,818 - 142,296,134 (-)NCBI
CHM1_1X153,627,290 - 153,630,674 (-)NCBI
T2T-CHM13v2.0X152,723,820 - 152,727,138 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005277913   ⟹   XP_005277970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,487,311 - 154,489,934 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006724847   ⟹   XP_006724910
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,487,311 - 154,490,298 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006724848   ⟹   XP_006724911
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,487,311 - 154,490,299 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531200   ⟹   XP_011529502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,487,311 - 154,490,629 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531201   ⟹   XP_011529503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,487,311 - 154,490,629 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047442557   ⟹   XP_047298513
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,487,311 - 154,490,629 (-)NCBI
RefSeq Acc Id: XM_047442558   ⟹   XP_047298514
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,487,311 - 154,490,629 (-)NCBI
RefSeq Acc Id: XM_047442559   ⟹   XP_047298515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,487,311 - 154,490,629 (-)NCBI
RefSeq Acc Id: XM_054327945   ⟹   XP_054183920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X152,723,820 - 152,726,807 (-)NCBI
RefSeq Acc Id: XM_054327946   ⟹   XP_054183921
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X152,723,820 - 152,726,808 (-)NCBI
RefSeq Acc Id: XM_054327947   ⟹   XP_054183922
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X152,723,820 - 152,727,138 (-)NCBI
RefSeq Acc Id: XM_054327948   ⟹   XP_054183923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X152,723,820 - 152,726,443 (-)NCBI
RefSeq Acc Id: XM_054327949   ⟹   XP_054183924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X152,723,820 - 152,727,138 (-)NCBI
RefSeq Acc Id: XM_054327950   ⟹   XP_054183925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X152,723,820 - 152,727,138 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001135863 (Get FASTA)   NCBI Sequence Viewer  
  NP_001135864 (Get FASTA)   NCBI Sequence Viewer  
  NP_062822 (Get FASTA)   NCBI Sequence Viewer  
  XP_005277970 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724910 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724911 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529502 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529503 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298513 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298514 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298515 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183920 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183921 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183922 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183923 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183924 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183925 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA92651 (Get FASTA)   NCBI Sequence Viewer  
  AAH04966 (Get FASTA)   NCBI Sequence Viewer  
  CAA30998 (Get FASTA)   NCBI Sequence Viewer  
  EAW72697 (Get FASTA)   NCBI Sequence Viewer  
  EAW72698 (Get FASTA)   NCBI Sequence Viewer  
  EAW72699 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000263512.4
  ENSP00000358663
  ENSP00000358663.4
  ENSP00000377211
  ENSP00000377211.1
  ENSP00000377212
  ENSP00000377212.4
  ENSP00000395702.1
  ENSP00000499188
  ENSP00000499188.1
GenBank Protein P09131 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_062822   ⟸   NM_019848
- Peptide Label: isoform 1 precursor
- UniProtKB: Q5HY79 (UniProtKB/Swiss-Prot),   Q9BSL2 (UniProtKB/Swiss-Prot),   P09131 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001135863   ⟸   NM_001142391
- Peptide Label: isoform 2 precursor
- UniProtKB: P09131 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001135864   ⟸   NM_001142392
- Peptide Label: isoform 1 precursor
- UniProtKB: Q5HY79 (UniProtKB/Swiss-Prot),   Q9BSL2 (UniProtKB/Swiss-Prot),   P09131 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006724911   ⟸   XM_006724848
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006724910   ⟸   XM_006724847
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005277970   ⟸   XM_005277913
- Peptide Label: isoform X4
- UniProtKB: A0A0A0MS43 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011529503   ⟸   XM_011531201
- Peptide Label: isoform X6
- UniProtKB: Q5HY79 (UniProtKB/Swiss-Prot),   Q9BSL2 (UniProtKB/Swiss-Prot),   P09131 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529502   ⟸   XM_011531200
- Peptide Label: isoform X3
- UniProtKB: A0A0A0MS43 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000395702   ⟸   ENST00000453912
RefSeq Acc Id: ENSP00000499188   ⟸   ENST00000651600
RefSeq Acc Id: ENSP00000377212   ⟸   ENST00000393587
RefSeq Acc Id: ENSP00000377211   ⟸   ENST00000393586
RefSeq Acc Id: ENSP00000358663   ⟸   ENST00000369649
RefSeq Acc Id: ENSP00000263512   ⟸   ENST00000263512
RefSeq Acc Id: XP_047298515   ⟸   XM_047442559
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047298513   ⟸   XM_047442557
- Peptide Label: isoform X3
- UniProtKB: A0A0A0MS43 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298514   ⟸   XM_047442558
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054183925   ⟸   XM_054327950
- Peptide Label: isoform X6
- UniProtKB: Q5HY79 (UniProtKB/Swiss-Prot),   P09131 (UniProtKB/Swiss-Prot),   Q9BSL2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054183924   ⟸   XM_054327949
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054183922   ⟸   XM_054327947
- Peptide Label: isoform X3
- UniProtKB: A0A0A0MS43 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183921   ⟸   XM_054327946
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054183920   ⟸   XM_054327945
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054183923   ⟸   XM_054327948
- Peptide Label: isoform X4
- UniProtKB: A0A0A0MS43 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P09131-F1-model_v2 AlphaFold P09131 1-477 view protein structure

Promoters
RGD ID:6809261
Promoter ID:HG_KWN:68667
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:UC010NUZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,369,156 - 153,371,407 (-)MPROMDB
RGD ID:6809263
Promoter ID:HG_KWN:68668
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000393586,   OTTHUMT00000037234,   OTTHUMT00000037236,   UC004FLQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,371,981 - 153,372,481 (-)MPROMDB
RGD ID:13628642
Promoter ID:EPDNEW_H29559
Type:initiation region
Name:SLC10A3_1
Description:solute carrier family 10 member 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,490,629 - 154,490,689EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:22979 AgrOrtholog
COSMIC SLC10A3 COSMIC
Ensembl Genes ENSG00000126903 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000263512.5 UniProtKB/Swiss-Prot
  ENST00000369649 ENTREZGENE
  ENST00000369649.8 UniProtKB/Swiss-Prot
  ENST00000393586 ENTREZGENE
  ENST00000393586.1 UniProtKB/TrEMBL
  ENST00000393587 ENTREZGENE
  ENST00000393587.4 UniProtKB/Swiss-Prot
  ENST00000453912.1 UniProtKB/TrEMBL
  ENST00000651600 ENTREZGENE
  ENST00000651600.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1530.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000126903 GTEx
HGNC ID HGNC:22979 ENTREZGENE
Human Proteome Map SLC10A3 Human Proteome Map
InterPro BilAc:Na_symport/Acr3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Bilac:Na_transpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Na+/solute_symporter_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8273 UniProtKB/Swiss-Prot
NCBI Gene 8273 ENTREZGENE
OMIM 312090 OMIM
PANTHER UBIQUITIN-LIKE PROTEIN 4A UniProtKB/Swiss-Prot
  UBIQUITIN-LIKE PROTEIN 4A UniProtKB/Swiss-Prot
  UBIQUITIN-LIKE PROTEIN 4A UniProtKB/TrEMBL
  UBIQUITIN-LIKE PROTEIN 4A UniProtKB/TrEMBL
Pfam SBF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134886398 PharmGKB
UniProt A0A0A0MS43 ENTREZGENE, UniProtKB/TrEMBL
  P09131 ENTREZGENE, UniProtKB/Swiss-Prot
  Q5HY78_HUMAN UniProtKB/TrEMBL
  Q5HY79 ENTREZGENE
  Q9BSL2 ENTREZGENE
UniProt Secondary Q5HY79 UniProtKB/Swiss-Prot
  Q9BSL2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 SLC10A3  solute carrier family 10 member 3  SLC10A3  solute carrier family 10, member 3  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC10A3  solute carrier family 10, member 3  SLC10A3  solute carrier family 10 (sodium/bile acid cotransporter family), member 3  Symbol and/or name change 5135510 APPROVED