IDH3G (isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma) - Rat Genome Database

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Gene: IDH3G (isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma) Homo sapiens
Analyze
Symbol: IDH3G
Name: isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma
RGD ID: 731354
HGNC Page HGNC:5386
Description: Enables magnesium ion binding activity. Involved in tricarboxylic acid cycle. Located in mitochondrion and nucleolus. Part of isocitrate dehydrogenase complex (NAD+).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: H-IDHG; IDH-gamma; isocitrate dehydrogenase (NAD(+)) 3 gamma; isocitrate dehydrogenase 3 (NAD(+)) gamma; isocitrate dehydrogenase 3 (NAD+) gamma; isocitrate dehydrogenase 3 gamma; isocitrate dehydrogenase 3, gamma; isocitrate dehydrogenase [NAD] subunit gamma, mitochondrial; isocitrate dehydrogenase, NAD(+)-specific, mitochondrial, gamma subunit; isocitric dehydrogenase subunit gamma; NAD (H)-specific isocitrate dehydrogenase gamma subunit; NAD(+)-specific ICDH subunit gamma; NAD+-specific ICDH
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: AC099730.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X153,785,768 - 153,794,375 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX153,785,766 - 153,794,512 (-)EnsemblGRCh38hg38GRCh38
GRCh37X153,051,223 - 153,059,830 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X152,704,415 - 152,713,161 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X152,572,067 - 152,580,814NCBI
CeleraX153,284,902 - 153,293,648 (-)NCBICelera
Cytogenetic MapXq28NCBI
HuRefX141,708,249 - 141,717,006 (-)NCBIHuRef
CHM1_1X152,925,630 - 152,934,387 (-)NCBICHM1_1
T2T-CHM13v2.0X152,059,431 - 152,068,038 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Genomic organization of two novel genes on human Xq28: compact head to head arrangement of IDH gamma and TRAP delta is conserved in rat and mouse. Brenner V, etal., Genomics 1997 Aug 15;44(1):8-14.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Preparation and properties of mitochondria derived from synaptosomes. Lai JC and Clark JB, Biochem J. 1976 Feb 15;154(2):423-32.
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8661155   PMID:10601238   PMID:10677231   PMID:11076863   PMID:11181995   PMID:11256614   PMID:12477932   PMID:14555658   PMID:15489334   PMID:15489336   PMID:16381901   PMID:16737955  
PMID:17314511   PMID:17432878   PMID:18029348   PMID:21873635   PMID:22939629   PMID:23798571   PMID:24981860   PMID:25496667   PMID:25544563   PMID:26186194   PMID:26344197   PMID:26687479  
PMID:28065597   PMID:28098230   PMID:28514442   PMID:28986522   PMID:30948266   PMID:31091453   PMID:31536960   PMID:31586073   PMID:31722399   PMID:32235678   PMID:33499712   PMID:33637726  
PMID:33658012   PMID:33742100   PMID:33961781   PMID:34800366   PMID:35235311   PMID:35256949   PMID:35337019   PMID:35509820   PMID:35831314   PMID:36114006   PMID:36215168   PMID:36517590  
PMID:36538041   PMID:36736316   PMID:37314216   PMID:37317656  


Genomics

Comparative Map Data
IDH3G
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X153,785,768 - 153,794,375 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX153,785,766 - 153,794,512 (-)EnsemblGRCh38hg38GRCh38
GRCh37X153,051,223 - 153,059,830 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X152,704,415 - 152,713,161 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X152,572,067 - 152,580,814NCBI
CeleraX153,284,902 - 153,293,648 (-)NCBICelera
Cytogenetic MapXq28NCBI
HuRefX141,708,249 - 141,717,006 (-)NCBIHuRef
CHM1_1X152,925,630 - 152,934,387 (-)NCBICHM1_1
T2T-CHM13v2.0X152,059,431 - 152,068,038 (-)NCBIT2T-CHM13v2.0
Idh3g
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X72,822,569 - 72,830,471 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX72,822,569 - 72,830,503 (-)EnsemblGRCm39 Ensembl
GRCm38X73,778,963 - 73,786,897 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX73,778,963 - 73,786,897 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X71,024,302 - 71,032,236 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X70,031,683 - 70,039,617 (-)NCBIMGSCv36mm8
CeleraX65,031,236 - 65,039,170 (-)NCBICelera
Cytogenetic MapXA7.3NCBI
cM MapX37.41NCBI
Idh3g
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X156,666,573 - 156,675,482 (-)NCBIGRCr8
mRatBN7.2X151,515,244 - 151,524,175 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX151,515,247 - 151,524,171 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX153,656,414 - 153,665,320 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X157,219,644 - 157,228,550 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X154,891,468 - 154,900,374 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X156,999,803 - 157,008,735 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX156,999,826 - 157,008,733 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01152,747,878 - 152,757,622 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X159,701,345 - 159,710,254 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1X159,776,446 - 159,785,611 (-)NCBI
Celera1136,365,515 - 136,374,301 (+)NCBICelera
Cytogenetic MapXq37NCBI
Idh3g
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955580500,825 - 507,608 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955580500,712 - 507,512 (-)NCBIChiLan1.0ChiLan1.0
IDH3G
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X153,826,443 - 153,835,135 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X153,830,046 - 153,838,677 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X143,336,460 - 143,345,274 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X153,222,309 - 153,231,135 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX153,222,309 - 153,231,135 (-)Ensemblpanpan1.1panPan2
IDH3G
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X121,599,368 - 121,608,707 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX121,599,368 - 121,608,643 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX106,928,530 - 106,937,871 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X124,740,839 - 124,750,181 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX124,740,831 - 124,750,153 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X120,510,113 - 120,519,453 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X123,025,113 - 123,034,451 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X122,787,308 - 122,796,645 (-)NCBIUU_Cfam_GSD_1.0
Idh3g
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X118,928,456 - 118,937,516 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936809666,337 - 675,214 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936809666,231 - 675,279 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IDH3G
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX124,528,585 - 124,537,575 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X124,528,643 - 124,537,570 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X142,093,229 - 142,102,047 (-)NCBISscrofa10.2Sscrofa10.2susScr3
IDH3G
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X128,212,660 - 128,221,637 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366606566,079,983 - 66,088,967 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Idh3g
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624946461,780 - 472,336 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624946465,832 - 472,259 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IDH3G
14 total Variants

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 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 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:149989929-156022206)x3 copy number gain See cases [RCV000050657] ChrX:149989929..156022206 [GRCh38]
ChrX:149158160..155251871 [GRCh37]
ChrX:148908818..154905065 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28		 pathogenic
GRCh38/hg38 Xq28(chrX:153296806-155699618)x1 copy number loss See cases [RCV000051750] ChrX:153296806..155699618 [GRCh38]
ChrX:152568327..154929279 [GRCh37]
ChrX:152215458..154582473 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:153667032-153817949)x0 copy number loss See cases [RCV000051751] ChrX:153667032..153817949 [GRCh38]
ChrX:152585681..152736598 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28		 pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28		 pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:153722500-154367160)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|See cases [RCV000052524] ChrX:153722500..154367160 [GRCh38]
ChrX:152641149..153248722 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:153769547-154394658)x2 copy number gain See cases [RCV000052525] ChrX:153769547..154394658 [GRCh38]
ChrX:152688196..153276194 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:153777340-154397779)x3 copy number gain See cases [RCV000052527] ChrX:153777340..154397779 [GRCh38]
ChrX:153333946..153626120 [GRCh37]
ChrX:152695989..153279314 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:153787044-154397779)x2 copy number gain See cases [RCV000052528] ChrX:153787044..154397779 [GRCh38]
ChrX:153333946..153626120 [GRCh37]
ChrX:152705693..153279314 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] ChrX:152932818..156022206 [GRCh38]
ChrX:152173071..155251871 [GRCh37]
ChrX:151852018..154905065 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 copy number gain See cases [RCV000052491] ChrX:153395425..155687381 [GRCh38]
ChrX:152314077..154570236 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:153504314-154144797)x2 copy number gain See cases [RCV000052492] ChrX:153504314..154144797 [GRCh38]
ChrX:152422966..153063464 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 copy number gain See cases [RCV000052474] ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xq28(chrX:153585420-154427385)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|See cases [RCV000052521] ChrX:153585420..154427385 [GRCh38]
ChrX:152864376..153655730 [GRCh37]
ChrX:152504072..153308924 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:153590730-154380801)x2 copy number gain See cases [RCV000052522] ChrX:153590730..154380801 [GRCh38]
ChrX:152864376..153609161 [GRCh37]
ChrX:152509382..153262355 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:153714542-154380803)x2 copy number gain See cases [RCV000052523] ChrX:153714542..154380803 [GRCh38]
ChrX:152633191..153262357 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
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)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28		 pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xq28(chrX:153296806-154604471)x2 copy number gain See cases [RCV000135451] ChrX:153296806..154604471 [GRCh38]
ChrX:152568327..153832724 [GRCh37]
ChrX:152215458..153485918 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xq28(chrX:153322656-155522304)x2 copy number gain See cases [RCV000136716] ChrX:153322656..155522304 [GRCh38]
ChrX:152864376..154751965 [GRCh37]
ChrX:152241308..154405159 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:151750863-155522304)x1 copy number loss See cases [RCV000136718] ChrX:151750863..155522304 [GRCh38]
ChrX:150919335..154751965 [GRCh37]
ChrX:150669991..154405159 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:153276277-156003242)x3 copy number gain See cases [RCV000137498] ChrX:153276277..156003242 [GRCh38]
ChrX:152465185..155232907 [GRCh37]
ChrX:152118379..154886101 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq28(chrX:153667032-154394658)x2 copy number gain See cases [RCV000137536] ChrX:153667032..154394658 [GRCh38]
ChrX:152585681..153276194 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28		 pathogenic
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28		 pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28		 pathogenic|uncertain significance
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28		 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq28(chrX:153727116-154555423)x2 copy number gain See cases [RCV000138393] ChrX:153727116..154555423 [GRCh38]
ChrX:153333946..153783638 [GRCh37]
ChrX:152645765..153436832 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28		 pathogenic|likely benign
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq28(chrX:153451351-154230630)x2 copy number gain See cases [RCV000140532] ChrX:153451351..154230630 [GRCh38]
ChrX:152716809..153496099 [GRCh37]
ChrX:152370003..153149293 [NCBI36]
ChrX:Xq28		 pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28		 pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28		 pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28		 pathogenic
GRCh38/hg38 Xq28(chrX:153392250-153934599)x3 copy number gain See cases [RCV000142157] ChrX:153392250..153934599 [GRCh38]
ChrX:152657708..153200052 [GRCh37]
ChrX:152310902..152853246 [NCBI36]
ChrX:Xq28		 uncertain significance
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xq28(chrX: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)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
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 Xq28(chrX:153047627-153555804)x2 copy number gain See cases [RCV000239929] ChrX:153047627..153555804 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:152912867-153236360)x2 copy number gain See cases [RCV000239969] ChrX:152912867..153236360 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
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:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq28(chrX:152993910-153555804)x2 copy number gain See cases [RCV000240396] ChrX:152993910..153555804 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
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 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28		 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:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq28(chrX:152228560-154930047)x2 copy number gain See cases [RCV000447331] ChrX:152228560..154930047 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28		 pathogenic
GRCh37/hg19 Xq28(chrX:153051135-153059077)x0 copy number loss See cases [RCV000446150] ChrX:153051135..153059077 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xq28(chrX:152970475-153524157)x2 copy number gain See cases [RCV000447506] ChrX:152970475..153524157 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq28(chrX:150253008-155233731)x1 copy number loss See cases [RCV000446761] ChrX:150253008..155233731 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
GRCh37/hg19 Xq28(chrX:152886474-153368990)x2 copy number gain See cases [RCV000448796] ChrX:152886474..153368990 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28		 pathogenic
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 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 copy number loss See cases [RCV000511228] ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28		 pathogenic
GRCh37/hg19 Xq28(chrX:152559822-153104847)x3 copy number gain See cases [RCV000511269] ChrX:152559822..153104847 [GRCh37]
ChrX:Xq28		 uncertain significance
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_004135.4(IDH3G):c.1096A>G (p.Ile366Val) single nucleotide variant not specified [RCV004301511] ChrX:153785958 [GRCh38]
ChrX:153051413 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq28(chrX:152899437-153624564)x2 copy number gain See cases [RCV000512403] ChrX:152899437..153624564 [GRCh37]
ChrX:Xq28		 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 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
Single allele duplication not provided [RCV000677999] ChrX:152912867..153236360 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28		 pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28		 pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28		 pathogenic
GRCh37/hg19 Xq28(chrX:152398094-153176959)x2 copy number gain not provided [RCV000684736] ChrX:152398094..153176959 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq28(chrX:152628304-153594168)x2 copy number gain not provided [RCV000684738] ChrX:152628304..153594168 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:152941302-153438781)x3 copy number gain not provided [RCV000684739] ChrX:152941302..153438781 [GRCh37]
ChrX:Xq28		 likely pathogenic
GRCh37/hg19 Xq28(chrX:153012011-153064295)x1 copy number loss not provided [RCV000684740] ChrX:153012011..153064295 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.10:g.(?_152954010)_(153599633_?)dup duplication Creatine transporter deficiency [RCV003117500]|Severe neonatal-onset encephalopathy with microcephaly [RCV000707841] ChrX:152954010..153599633 [GRCh37]
ChrX:Xq28		 pathogenic|uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1 copy number loss See cases [RCV002285075] ChrX:77670699..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xq28(chrX:152806628-153626649)x2 copy number gain not provided [RCV000753922] ChrX:152806628..153626649 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28		 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:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
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 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28		 pathogenic
NM_004135.4(IDH3G):c.392G>A (p.Arg131Gln) single nucleotide variant not specified [RCV004283984] ChrX:153788090 [GRCh38]
ChrX:153053545 [GRCh37]
ChrX:Xq28		 uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
NC_000023.10:g.(?_152954020)_(154096327_?)del deletion Adrenoleukodystrophy [RCV000815921] ChrX:152954020..154096327 [GRCh37]
ChrX:Xq28		 pathogenic
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 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
GRCh37/hg19 Xq28(chrX:152398094-153086545)x2 copy number gain not provided [RCV000848454] ChrX:152398094..153086545 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
NC_000023.10:g.(?_152990712)_(153650075_?)del deletion X-linked Emery-Dreifuss muscular dystrophy [RCV000823256] ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28		 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 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28		 uncertain significance
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
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
GRCh37/hg19 Xq28(chrX:152228560-153146794)x2 copy number gain Autism [RCV002284318] ChrX:152228560..153146794 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28		 likely pathogenic
GRCh37/hg19 Xq28(chrX:153023149-153345755)x2 copy number gain not provided [RCV001007367] ChrX:153023149..153345755 [GRCh37]
ChrX:Xq28		 likely pathogenic
NC_000023.11:g.153794101G>A single nucleotide variant not provided [RCV001670801] ChrX:153794101 [GRCh38]
ChrX:153059556 [GRCh37]
ChrX:Xq28		 benign
NC_000023.10:g.(?_152954010)_(153363142_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV001033929] ChrX:152954010..153363142 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:153029046-153567369)x3 copy number gain not provided [RCV001007368] ChrX:153029046..153567369 [GRCh37]
ChrX:Xq28		 pathogenic
NC_000023.10:g.(?_152990712)_(153650075_?)dup duplication X-linked Emery-Dreifuss muscular dystrophy [RCV001031812] ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28		 uncertain significance
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:152516781-153368573)x2 copy number gain not provided [RCV001007365] ChrX:152516781..153368573 [GRCh37]
ChrX:Xq28		 pathogenic
NC_000023.10:g.(?_152954010)_(153141311_?)dup duplication Creatine transporter deficiency [RCV001033780] ChrX:152954010..153141311 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq28(chrX:152815772-153624215) copy number gain Global developmental delay [RCV002280663] ChrX:152815772..153624215 [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
NM_004135.4(IDH3G):c.694T>C (p.Phe232Leu) single nucleotide variant Spastic tetraplegia [RCV001262473] ChrX:153787134 [GRCh38]
ChrX:153052589 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq28(chrX:152941302-153055639)x3 copy number gain not provided [RCV001260060] ChrX:152941302..153055639 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq28(chrX:152631130-153240286)x3 copy number gain not provided [RCV001260062] ChrX:152631130..153240286 [GRCh37]
ChrX:Xq28		 uncertain significance
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 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
Single allele deletion SSR4-congenital disorder of glycosylation [RCV001268961] ChrX:153011909..153063825 [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
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.(?_152014869)_(153363122_?)dup duplication Adrenoleukodystrophy [RCV003119105]|not provided [RCV003109220] ChrX:152014869..153363122 [GRCh37]
ChrX:Xq28		 uncertain significance|no classifications from unflagged records
Single allele deletion Immunodeficiency 33 [RCV002247742]|Splenomegaly [RCV002247743] ChrX:153427468..156004919 [GRCh38]
ChrX:Xq28		 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: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 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq28(chrX:152970475-153524157) copy number gain not specified [RCV002053204] ChrX:152970475..153524157 [GRCh37]
ChrX:Xq28		 pathogenic
NC_000023.10:g.(?_152986307)_(153593345_?)dup duplication Heterotopia, periventricular, X-linked dominant [RCV001967054] ChrX:152986307..153593345 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV001839062] ChrX:140888048..154656872 [GRCh38]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xq28(chrX:152740984-153431748)x2 copy number gain not provided [RCV001829153] ChrX:152740984..153431748 [GRCh37]
ChrX:Xq28		 pathogenic
NC_000023.10:g.(?_152482081)_(153416424_?)del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV004581782] ChrX:152482081..153416424 [GRCh37]
ChrX:Xq28		 pathogenic
NC_000023.10:g.(?_152954030)_(153283591_?)dup duplication Spastic paraplegia [RCV003111187]|not provided [RCV003111188] ChrX:152954030..153283591 [GRCh37]
ChrX:Xq28		 uncertain significance|no classifications from unflagged records
NC_000023.10:g.(?_153001546)_(154563736_?)dup duplication Adrenoleukodystrophy [RCV003119108] ChrX:153001546..154563736 [GRCh37]
ChrX:Xq28		 uncertain significance
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:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [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 Xq27.3-28(chrX:142401540-155233731)x1 copy number loss See cases [RCV002292203] ChrX:142401540..155233731 [GRCh37]
ChrX:Xq27.3-28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
NM_004135.4(IDH3G):c.905T>C (p.Val302Ala) single nucleotide variant not specified [RCV004289927] ChrX:153786820 [GRCh38]
ChrX:153052275 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq28(chrX:152805142-153200052)x2 copy number gain not provided [RCV002474953] ChrX:152805142..153200052 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1 copy number loss not provided [RCV002474567] ChrX:124749464..155233731 [GRCh37]
ChrX:Xq25-28		 pathogenic
NM_004135.4(IDH3G):c.757G>A (p.Val253Met) single nucleotide variant not specified [RCV004160598] ChrX:153787071 [GRCh38]
ChrX:153052526 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_004135.4(IDH3G):c.903T>G (p.His301Gln) single nucleotide variant not specified [RCV004150751] ChrX:153786822 [GRCh38]
ChrX:153052277 [GRCh37]
ChrX:Xq28		 uncertain significance
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
NM_004135.4(IDH3G):c.1142G>A (p.Arg381His) single nucleotide variant not specified [RCV004261785] ChrX:153785912 [GRCh38]
ChrX:153051367 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_004135.4(IDH3G):c.323G>A (p.Arg108His) single nucleotide variant not specified [RCV004341725] ChrX:153789735 [GRCh38]
ChrX:153055190 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1 copy number loss not provided [RCV003483929] ChrX:118576752..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
GRCh37/hg19 Xq28(chrX:152916854-154775938)x2 copy number gain not provided [RCV003483986] ChrX:152916854..154775938 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:152941303-153549189)x2 copy number gain not provided [RCV003483987] ChrX:152941303..153549189 [GRCh37]
ChrX:Xq28		 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:152707335-153624154)x2 copy number gain not provided [RCV003483984] ChrX:152707335..153624154 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:148598351-154943978)x1 copy number loss not provided [RCV003483936] ChrX:148598351..154943978 [GRCh37]
ChrX:Xq28		 pathogenic
NM_004135.4(IDH3G):c.1080+56_1080+65del deletion not provided [RCV003432613] ChrX:153786147..153786156 [GRCh38]
ChrX:153051602..153051611 [GRCh37]
ChrX:Xq28		 likely benign
NM_004135.4(IDH3G):c.1080+18C>T single nucleotide variant not provided [RCV003432614] ChrX:153786194 [GRCh38]
ChrX:153051649 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xq24-28(chrX:119395676-154930047) copy number loss not specified [RCV003986220] ChrX:119395676..154930047 [GRCh37]
ChrX:Xq24-28		 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 Xq25-28(chrX:125253445-155233098)x1 copy number loss See cases [RCV004442781] ChrX:125253445..155233098 [GRCh37]
ChrX:Xq25-28		 pathogenic
NC_000023.11:g.153670446_154329698dup duplication Chromosome Xq28 duplication syndrome [RCV003989462] ChrX:153670446..154329698 [GRCh38]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1 copy number loss not provided [RCV004442761] ChrX:121656905..155233098 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3 copy number gain not provided [RCV003885530] ChrX:67292994..155240074 [GRCh37]
ChrX:Xq12-28		 pathogenic
NM_004135.4(IDH3G):c.217G>C (p.Val73Leu) single nucleotide variant not specified [RCV004399931] ChrX:153790211 [GRCh38]
ChrX:153055666 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_004135.4(IDH3G):c.37G>C (p.Ala13Pro) single nucleotide variant not specified [RCV004399932] ChrX:153794290 [GRCh38]
ChrX:153059745 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_004135.4(IDH3G):c.89G>A (p.Gly30Asp) single nucleotide variant not specified [RCV004399933] ChrX:153790844 [GRCh38]
ChrX:153056299 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2 copy number gain Klinefelter syndrome [RCV004579655] ChrX:2757837..156030895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
NC_000023.10:g.(?_152954030)_(154005142_?)del deletion 3-Methylglutaconic aciduria type 2 [RCV004582960]|Adrenoleukodystrophy [RCV004582961]|Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV004582959]|Creatine transporter deficiency [RCV004582962]|Dyskeratosis congenita [RCV004582964]|Spastic paraplegia [RCV004582965]|X-linked Emery-Dreifuss muscular dystrophy [RCV004582963] ChrX:152954030..154005142 [GRCh37]
ChrX:Xq28		 pathogenic
NM_004135.4(IDH3G):c.985C>G (p.Leu329Val) single nucleotide variant not specified [RCV004626325] ChrX:153786389 [GRCh38]
ChrX:153051844 [GRCh37]
ChrX:Xq28		 uncertain significance
NC_000023.10:g.(?_54610638)_(154689386_?)dup duplication Hereditary factor VIII deficiency disease [RCV004768478] ChrX:54610638..154689386 [GRCh37]
ChrX:Xp11.22-q28		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4215
Count of miRNA genes:1010
Interacting mature miRNAs:1251
Transcripts:ENST00000217901, ENST00000370092, ENST00000370093, ENST00000427365, ENST00000444338, ENST00000444450, ENST00000454076, ENST00000461215, ENST00000491235, ENST00000495356, ENST00000497043
Prediction methods:Microtar, 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.

Markers in Region
DXS7064  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,061,053 - 153,061,154UniSTSGRCh37
Build 36X152,714,247 - 152,714,348RGDNCBI36
CeleraX153,294,734 - 153,294,835RGD
Cytogenetic MapXq28UniSTS
RH92840  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,051,006 - 153,051,152UniSTSGRCh37
Build 36X152,704,200 - 152,704,346RGDNCBI36
CeleraX153,284,687 - 153,284,833RGD
Cytogenetic MapXq28UniSTS
HuRefX141,708,034 - 141,708,180UniSTS
GeneMap99-GB4 RH MapX350.52UniSTS
RH92620  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,051,242 - 153,051,386UniSTSGRCh37
Build 36X152,704,436 - 152,704,580RGDNCBI36
CeleraX153,284,923 - 153,285,067RGD
Cytogenetic MapXq28UniSTS
HuRefX141,708,270 - 141,708,414UniSTS
GeneMap99-GB4 RH MapX350.52UniSTS
RH12600  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,051,301 - 153,051,429UniSTSGRCh37
Build 36X152,704,495 - 152,704,623RGDNCBI36
CeleraX153,284,982 - 153,285,110RGD
Cytogenetic MapXq28UniSTS
HuRefX141,708,329 - 141,708,457UniSTS
GeneMap99-GB4 RH MapX350.52UniSTS
STK23_9495  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,050,839 - 153,051,364UniSTSGRCh37
Build 36X152,704,033 - 152,704,558RGDNCBI36
CeleraX153,284,520 - 153,285,045RGD
HuRefX141,707,867 - 141,708,392UniSTS
G54852  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,055,962 - 153,056,925UniSTSGRCh37
CeleraX153,289,643 - 153,290,606UniSTS
Cytogenetic MapXq28UniSTS
HuRefX141,712,990 - 141,713,953UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_004135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_174869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI831096 (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
  DQ173592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U40272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U52111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U69268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U69269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z68129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z68907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000217901   ⟹   ENSP00000217901
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,785,768 - 153,794,375 (-)Ensembl
Ensembl Acc Id: ENST00000370092   ⟹   ENSP00000359110
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,785,766 - 153,794,512 (-)Ensembl
Ensembl Acc Id: ENST00000370093   ⟹   ENSP00000359111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,785,767 - 153,794,381 (-)Ensembl
Ensembl Acc Id: ENST00000427365   ⟹   ENSP00000408529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,785,798 - 153,794,356 (-)Ensembl
Ensembl Acc Id: ENST00000444338   ⟹   ENSP00000402747
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,787,051 - 153,789,790 (-)Ensembl
Ensembl Acc Id: ENST00000444450   ⟹   ENSP00000401862
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,786,801 - 153,794,359 (-)Ensembl
Ensembl Acc Id: ENST00000454076   ⟹   ENSP00000400115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,785,767 - 153,787,553 (-)Ensembl
Ensembl Acc Id: ENST00000461215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,787,826 - 153,794,346 (-)Ensembl
Ensembl Acc Id: ENST00000491235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,789,838 - 153,794,325 (-)Ensembl
Ensembl Acc Id: ENST00000495356
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,787,391 - 153,794,335 (-)Ensembl
Ensembl Acc Id: ENST00000497043
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,787,127 - 153,794,356 (-)Ensembl
Ensembl Acc Id: ENST00000619865   ⟹   ENSP00000482665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX153,786,149 - 153,794,523 (-)Ensembl
RefSeq Acc Id: NM_004135   ⟹   NP_004126
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,785,768 - 153,794,375 (-)NCBI
GRCh37X153,051,221 - 153,059,978 (-)NCBI
Build 36X152,704,415 - 152,713,161 (-)NCBI Archive
CeleraX153,284,902 - 153,293,648 (-)RGD
HuRefX141,708,249 - 141,717,006 (-)NCBI
CHM1_1X152,925,630 - 152,934,387 (-)NCBI
T2T-CHM13v2.0X152,059,431 - 152,068,038 (-)NCBI
Sequence:
RefSeq Acc Id: NM_174869   ⟹   NP_777358
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,785,768 - 153,794,375 (-)NCBI
GRCh37X153,051,221 - 153,059,978 (-)NCBI
Build 36X152,704,415 - 152,713,161 (-)NCBI Archive
CeleraX153,284,902 - 153,293,648 (-)RGD
HuRefX141,708,249 - 141,717,006 (-)NCBI
CHM1_1X152,925,630 - 152,934,387 (-)NCBI
T2T-CHM13v2.0X152,059,431 - 152,068,038 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_004126 (Get FASTA)   NCBI Sequence Viewer  
  NP_777358 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB70115 (Get FASTA)   NCBI Sequence Viewer  
  AAB70116 (Get FASTA)   NCBI Sequence Viewer  
  AAD09357 (Get FASTA)   NCBI Sequence Viewer  
  AAH00933 (Get FASTA)   NCBI Sequence Viewer  
  AAH01902 (Get FASTA)   NCBI Sequence Viewer  
  ABC25729 (Get FASTA)   NCBI Sequence Viewer  
  ABC25734 (Get FASTA)   NCBI Sequence Viewer  
  ABC25739 (Get FASTA)   NCBI Sequence Viewer  
  ABC25744 (Get FASTA)   NCBI Sequence Viewer  
  ABC25749 (Get FASTA)   NCBI Sequence Viewer  
  ABC25754 (Get FASTA)   NCBI Sequence Viewer  
  ABC25758 (Get FASTA)   NCBI Sequence Viewer  
  ABC25763 (Get FASTA)   NCBI Sequence Viewer  
  ABC25768 (Get FASTA)   NCBI Sequence Viewer  
  ABC25773 (Get FASTA)   NCBI Sequence Viewer  
  ABC25778 (Get FASTA)   NCBI Sequence Viewer  
  ABC25783 (Get FASTA)   NCBI Sequence Viewer  
  ABC25788 (Get FASTA)   NCBI Sequence Viewer  
  ABC25793 (Get FASTA)   NCBI Sequence Viewer  
  ABC25798 (Get FASTA)   NCBI Sequence Viewer  
  ABC25803 (Get FASTA)   NCBI Sequence Viewer  
  ABC25808 (Get FASTA)   NCBI Sequence Viewer  
  ABC25813 (Get FASTA)   NCBI Sequence Viewer  
  ABC25818 (Get FASTA)   NCBI Sequence Viewer  
  ABC25823 (Get FASTA)   NCBI Sequence Viewer  
  ABC25828 (Get FASTA)   NCBI Sequence Viewer  
  ABC25833 (Get FASTA)   NCBI Sequence Viewer  
  ABC25838 (Get FASTA)   NCBI Sequence Viewer  
  ABC25843 (Get FASTA)   NCBI Sequence Viewer  
  ABC25848 (Get FASTA)   NCBI Sequence Viewer  
  ABC25853 (Get FASTA)   NCBI Sequence Viewer  
  ABC25858 (Get FASTA)   NCBI Sequence Viewer  
  ABC25863 (Get FASTA)   NCBI Sequence Viewer  
  ABC25868 (Get FASTA)   NCBI Sequence Viewer  
  ABC25873 (Get FASTA)   NCBI Sequence Viewer  
  ABC25878 (Get FASTA)   NCBI Sequence Viewer  
  ABC25883 (Get FASTA)   NCBI Sequence Viewer  
  ABC25888 (Get FASTA)   NCBI Sequence Viewer  
  ABC25893 (Get FASTA)   NCBI Sequence Viewer  
  ABC25898 (Get FASTA)   NCBI Sequence Viewer  
  ABC25903 (Get FASTA)   NCBI Sequence Viewer  
  ABC25908 (Get FASTA)   NCBI Sequence Viewer  
  ABC25913 (Get FASTA)   NCBI Sequence Viewer  
  ABC25918 (Get FASTA)   NCBI Sequence Viewer  
  ABC25923 (Get FASTA)   NCBI Sequence Viewer  
  ABC25928 (Get FASTA)   NCBI Sequence Viewer  
  ABC25933 (Get FASTA)   NCBI Sequence Viewer  
  ABC25938 (Get FASTA)   NCBI Sequence Viewer  
  ABC25943 (Get FASTA)   NCBI Sequence Viewer  
  ABC25948 (Get FASTA)   NCBI Sequence Viewer  
  ABC25953 (Get FASTA)   NCBI Sequence Viewer  
  ABC25958 (Get FASTA)   NCBI Sequence Viewer  
  ABC25963 (Get FASTA)   NCBI Sequence Viewer  
  ABC25968 (Get FASTA)   NCBI Sequence Viewer  
  ABC25973 (Get FASTA)   NCBI Sequence Viewer  
  ABC25978 (Get FASTA)   NCBI Sequence Viewer  
  BAD92443 (Get FASTA)   NCBI Sequence Viewer  
  CAA92214 (Get FASTA)   NCBI Sequence Viewer  
  CAA93143 (Get FASTA)   NCBI Sequence Viewer  
  EAW72792 (Get FASTA)   NCBI Sequence Viewer  
  EAW72793 (Get FASTA)   NCBI Sequence Viewer  
  EAW72794 (Get FASTA)   NCBI Sequence Viewer  
  EAW72796 (Get FASTA)   NCBI Sequence Viewer  
  EAW72797 (Get FASTA)   NCBI Sequence Viewer  
  EAW72798 (Get FASTA)   NCBI Sequence Viewer  
  EAW72799 (Get FASTA)   NCBI Sequence Viewer  
  EAW72800 (Get FASTA)   NCBI Sequence Viewer  
  EAW72801 (Get FASTA)   NCBI Sequence Viewer  
  EAW72802 (Get FASTA)   NCBI Sequence Viewer  
  EAW72803 (Get FASTA)   NCBI Sequence Viewer  
  EAW72804 (Get FASTA)   NCBI Sequence Viewer  
  EAW72806 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000217901
  ENSP00000217901.5
  ENSP00000359110
  ENSP00000359110.3
  ENSP00000359111.1
  ENSP00000400115.1
  ENSP00000401862.1
  ENSP00000402747.1
  ENSP00000408529.2
GenBank Protein P51553 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_777358   ⟸   NM_174869
- Peptide Label: isoform b precursor
- UniProtKB: E7EQB8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_004126   ⟸   NM_004135
- Peptide Label: isoform a precursor
- UniProtKB: E9PDD5 (UniProtKB/Swiss-Prot),   Q9BUU5 (UniProtKB/Swiss-Prot),   P51553 (UniProtKB/Swiss-Prot),   E7EQB8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000359110   ⟸   ENST00000370092
Ensembl Acc Id: ENSP00000359111   ⟸   ENST00000370093
Ensembl Acc Id: ENSP00000408529   ⟸   ENST00000427365
Ensembl Acc Id: ENSP00000217901   ⟸   ENST00000217901
Ensembl Acc Id: ENSP00000400115   ⟸   ENST00000454076
Ensembl Acc Id: ENSP00000402747   ⟸   ENST00000444338
Ensembl Acc Id: ENSP00000401862   ⟸   ENST00000444450
Ensembl Acc Id: ENSP00000482665   ⟸   ENST00000619865
Protein Domains
Isopropylmalate dehydrogenase-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P51553-F1-model_v2 AlphaFold P51553 1-393 view protein structure

Promoters
RGD ID:6808938
Promoter ID:HG_KWN:68564
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000061088,   UC004FIU.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,705,826 - 152,707,212 (-)MPROMDB
RGD ID:6808939
Promoter ID:HG_KWN:68565
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000061086,   OTTHUMT00000061089,   OTTHUMT00000061090,   OTTHUMT00000061092
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,708,811 - 152,709,587 (-)MPROMDB
RGD ID:6808940
Promoter ID:HG_KWN:68567
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000393768,   ENST00000393771,   NM_174869,   OTTHUMT00000061080,   OTTHUMT00000061081,   OTTHUMT00000061082,   OTTHUMT00000061083,   OTTHUMT00000061084,   OTTHUMT00000061091,   UC004FIO.1,   UC004FIR.1,   UC004FIS.1,   UC004FIT.1,   UC010NUM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,712,849 - 152,713,349 (-)MPROMDB
RGD ID:6853274
Promoter ID:EP74458
Type:initiation region
Name:HS_IDH3G
Description:Isocitrate dehydrogenase 3 (NAD+) gamma.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,713,013 - 152,713,073EPD
RGD ID:13628532
Promoter ID:EPDNEW_H29504
Type:initiation region
Name:IDH3G_1
Description:isocitrate dehydrogenase 3 (NAD(+)) gamma
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
GRCh38X153,794,336 - 153,794,396EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5386 AgrOrtholog
COSMIC IDH3G COSMIC
Ensembl Genes ENSG00000067829 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000217901 ENTREZGENE
  ENST00000217901.10 UniProtKB/Swiss-Prot
  ENST00000370092 ENTREZGENE
  ENST00000370092.7 UniProtKB/Swiss-Prot
  ENST00000370093.5 UniProtKB/TrEMBL
  ENST00000427365.6 UniProtKB/TrEMBL
  ENST00000444338.1 UniProtKB/TrEMBL
  ENST00000444450.5 UniProtKB/TrEMBL
  ENST00000454076.5 UniProtKB/TrEMBL
Gene3D-CATH Isopropylmalate Dehydrogenase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000067829 GTEx
HGNC ID HGNC:5386 ENTREZGENE
Human Proteome Map IDH3G Human Proteome Map
InterPro IsoCit/isopropylmalate_DH_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Isocitrate_DH_NAD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IsoPropMal-DH-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3421 UniProtKB/Swiss-Prot
NCBI Gene 3421 ENTREZGENE
OMIM 300089 OMIM
PANTHER DECARBOXYLATING DEHYDROGENASES-ISOCITRATE, ISOPROPYLMALATE, TARTRATE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ISOCITRATE DEHYDROGENASE [NAD] SUBUNIT GAMMA, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Iso_dh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29634 PharmGKB
PROSITE IDH_IMDH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Iso_dh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Isocitrate/Isopropylmalate dehydrogenase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E7EQB8 ENTREZGENE, UniProtKB/TrEMBL
  E9PDD5 ENTREZGENE
  E9PF84_HUMAN UniProtKB/TrEMBL
  G5E9Q7_HUMAN UniProtKB/TrEMBL
  H0Y5Q7_HUMAN UniProtKB/TrEMBL
  H7C1W2_HUMAN UniProtKB/TrEMBL
  IDH3G_HUMAN UniProtKB/Swiss-Prot
  O15384_HUMAN UniProtKB/TrEMBL
  P51553 ENTREZGENE
  Q2Q9C5_HUMAN UniProtKB/TrEMBL
  Q2Q9S4_HUMAN UniProtKB/TrEMBL
  Q9BUU5 ENTREZGENE
UniProt Secondary E9PDD5 UniProtKB/Swiss-Prot
  Q9BUU5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-07-16 IDH3G  isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma  IDH3G  isocitrate dehydrogenase (NAD(+)) 3 gamma  Symbol and/or name change 5135510 APPROVED
2019-04-16 IDH3G  isocitrate dehydrogenase (NAD(+)) 3 gamma  IDH3G  isocitrate dehydrogenase 3 (NAD(+)) gamma  Symbol and/or name change 5135510 APPROVED
2016-05-03 IDH3G  isocitrate dehydrogenase 3 (NAD(+)) gamma  IDH3G  isocitrate dehydrogenase 3 (NAD+) gamma  Symbol and/or name change 5135510 APPROVED