NDUFB11 (NADH:ubiquinone oxidoreductase subunit B11) - Rat Genome Database

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Gene: NDUFB11 (NADH:ubiquinone oxidoreductase subunit B11) Homo sapiens
Analyze
Symbol: NDUFB11
Name: NADH:ubiquinone oxidoreductase subunit B11
RGD ID: 1347474
HGNC Page HGNC
Description: Involved in mitochondrial respiratory chain complex I assembly. Localizes to mitochondrial respiratory chain complex I. Implicated in linear skin defects with multiple congenital anomalies 3 and nuclear type mitochondrial complex I deficiency 30.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CI-ESSS; complex I NP17.3 subunit; complex I-ESSS; ESSS; FLJ20494; LSDMCA3; MC1DN30; MGC111182; NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa; NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial; NADH-ubiquinone oxidoreductase ESSS subunit; neuronal protein 17.3; Np15; NP17.3; P17.3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: NDUFB11P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX47,142,216 - 47,145,504 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX47,142,216 - 47,145,038 (-)EnsemblGRCh38hg38GRCh38
GRCh38X47,142,216 - 47,145,491 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X47,001,615 - 47,004,890 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X46,886,563 - 46,889,381 (-)NCBINCBI36hg18NCBI36
Build 34X46,757,872 - 46,760,691NCBI
CeleraX51,196,935 - 51,199,928 (-)NCBI
Cytogenetic MapXp11.3NCBI
HuRefX44,714,096 - 44,714,626 (-)NCBIHuRef
CHM1_1X47,033,379 - 47,036,366 (-)NCBICHM1_1
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

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cardiac septum morphology  (IAGP)
Abnormal eyelash morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal fallopian tube morphology  (IAGP)
Abnormal mitochondria in muscle tissue  (IAGP)
Abnormal nasolacrimal system morphology  (IAGP)
Abnormal rectum morphology  (IAGP)
Abnormal testis morphology  (IAGP)
Abnormality of dental enamel  (IAGP)
Abnormality of metabolism/homeostasis  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of the anus  (IAGP)
Abnormality of the nail  (IAGP)
Absent septum pellucidum  (IAGP)
Agenesis of corpus callosum  (IAGP)
Ambiguous genitalia  (IAGP)
Amblyopia  (IAGP)
Anal atresia  (IAGP)
Anophthalmia  (IAGP)
Anteriorly placed anus  (IAGP)
Aphasia  (IAGP)
Arrhythmia  (IAGP)
Asymmetric, linear skin defects  (IAGP)
Ataxia  (IAGP)
Atrial septal defect  (IAGP)
Blindness  (IAGP)
Cardiac arrest  (IAGP)
Cataract  (IAGP)
Chordee  (IAGP)
Chorioretinal dysplasia  (IAGP)
Cleft earlobe  (IAGP)
Clitoral hypertrophy  (IAGP)
Colpocephaly  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Congenital onset  (IAGP)
Congestive heart failure  (IAGP)
Decreased activity of mitochondrial complex I  (IAGP)
Dermal atrophy  (IAGP)
Diabetes mellitus  (IAGP)
Dilated cardiomyopathy  (IAGP)
Dilation of lateral ventricles  (IAGP)
Dysphasia  (IAGP)
Echolalia  (IAGP)
Encephalopathy  (IAGP)
Epispadias  (IAGP)
Erythema  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Fetal distress  (IAGP)
Focal T2 hyperintense brainstem lesion  (IAGP)
Functional motor deficit  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hepatomegaly  (IAGP)
Histiocytoid cardiomyopathy  (IAGP)
Hydrocephalus  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hyperpigmented streaks  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypoglycemia  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypoplasia of the uterus  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Increased CSF lactate  (IAGP)
Increased serum pyruvate  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, progressive  (IAGP)
Intrauterine growth retardation  (IAGP)
Iris coloboma  (IAGP)
Lacrimal duct atresia  (IAGP)
Lactic acidosis  (IAGP)
Lethargy  (IAGP)
Leukodystrophy  (IAGP)
Leukoencephalopathy  (IAGP)
Male pseudohermaphroditism  (IAGP)
Mandibular aplasia  (IAGP)
Metabolic acidosis  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Micropenis  (IAGP)
Microphthalmia  (IAGP)
Midface retrusion  (IAGP)
Mitochondrial myopathy  (IAGP)
Mitral regurgitation  (IAGP)
Mitral valve prolapse  (IAGP)
Muscular hypotonia of the trunk  (IAGP)
Mutism  (IAGP)
Myopia  (IAGP)
Neonatal death  (IAGP)
Nystagmus  (IAGP)
Optic disc pallor  (IAGP)
Optic neuropathy  (IAGP)
Overriding aorta  (IAGP)
Ovotestis  (IAGP)
Paroxysmal involuntary eye movements  (IAGP)
Pigmentary retinopathy  (IAGP)
Poor eye contact  (IAGP)
Poor head control  (IAGP)
Posterior embryotoxon  (IAGP)
Premature birth  (IAGP)
Proximal tubulopathy  (IAGP)
Ptosis  (IAGP)
Redundant skin  (IAGP)
Respiratory distress  (IAGP)
Respiratory failure  (IAGP)
Respiratory insufficiency  (IAGP)
Retinal dysplasia  (IAGP)
Retinal dystrophy  (IAGP)
Retrognathia  (IAGP)
Sacral dimple  (IAGP)
Schizophrenia  (IAGP)
Sclerocornea  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe short stature  (IAGP)
Short stature  (IAGP)
Specific learning disability  (IAGP)
Status epilepticus  (IAGP)
Strabismus  (IAGP)
Tricuspid regurgitation  (IAGP)
Tricuspid valve prolapse  (IAGP)
Ventricular fibrillation  (IAGP)
Ventricular septal defect  (IAGP)
Ventricular tachycardia  (IAGP)
Visual loss  (IAGP)
Vitritis  (IAGP)
Vomiting  (IAGP)
Wide nasal bridge  (IAGP)
Wide nose  (IAGP)
X-linked dominant inheritance  (IAGP)
X-linked inheritance  (IAGP)
References

Additional References at PubMed
PMID:8889548   PMID:10544803   PMID:12381726   PMID:12477932   PMID:12611891   PMID:12975309   PMID:14702039   PMID:15489334   PMID:15772651   PMID:17292333   PMID:18029348   PMID:20301533  
PMID:20301767   PMID:21873635   PMID:21900206   PMID:22939629   PMID:23246602   PMID:24344204   PMID:25416956   PMID:25437307   PMID:25772934   PMID:25921236   PMID:26496610   PMID:27102574  
PMID:27488349   PMID:27499296   PMID:27626371   PMID:28380382   PMID:28514442   PMID:29180619   PMID:29507755   PMID:29568061   PMID:30423443   PMID:31091453   PMID:31206022   PMID:31536960  
PMID:31617661   PMID:32296183   PMID:32877691  


Genomics

Comparative Map Data
NDUFB11
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX47,142,216 - 47,145,504 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX47,142,216 - 47,145,038 (-)EnsemblGRCh38hg38GRCh38
GRCh38X47,142,216 - 47,145,491 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X47,001,615 - 47,004,890 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X46,886,563 - 46,889,381 (-)NCBINCBI36hg18NCBI36
Build 34X46,757,872 - 46,760,691NCBI
CeleraX51,196,935 - 51,199,928 (-)NCBI
Cytogenetic MapXp11.3NCBI
HuRefX44,714,096 - 44,714,626 (-)NCBIHuRef
CHM1_1X47,033,379 - 47,036,366 (-)NCBICHM1_1
Ndufb11
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X20,481,565 - 20,483,858 (-)NCBIGRCm39mm39
GRCm39 EnsemblX20,481,565 - 20,483,858 (-)Ensembl
GRCm38X20,615,326 - 20,617,619 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX20,615,326 - 20,617,619 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X20,192,452 - 20,194,690 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X19,772,285 - 19,774,513 (-)NCBImm8
CeleraX18,746,089 - 18,748,327 (-)NCBICelera
Cytogenetic MapXA1.3NCBI
Ndufb11
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X1,572,805 - 1,575,063 (+)NCBI
Rnor_6.0 EnsemblX1,787,266 - 1,789,524 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X1,787,266 - 1,789,524 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X2,580,319 - 2,582,577 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X12,989,912 - 12,992,170 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX2,136,744 - 2,139,002 (+)NCBICelera
Cytogenetic MapXq11NCBI
Ndufb11
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955516934,740 - 937,207 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955516934,740 - 937,207 (+)NCBIChiLan1.0ChiLan1.0
NDUFB11
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X47,437,573 - 47,440,578 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX47,437,573 - 47,440,578 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X39,579,460 - 39,582,462 (-)NCBIMhudiblu_PPA_v0panPan3
NDUFB11
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X40,744,408 - 40,746,831 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX40,744,408 - 40,746,837 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX15,119,865 - 15,122,300 (-)NCBI
ROS_Cfam_1.0X40,878,921 - 40,881,356 (-)NCBI
UMICH_Zoey_3.1X40,866,623 - 40,869,058 (-)NCBI
UNSW_CanFamBas_1.0X40,854,280 - 40,856,715 (-)NCBI
UU_Cfam_GSD_1.0X40,947,370 - 40,949,805 (-)NCBI
Ndufb11
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X33,068,679 - 33,082,944 (-)NCBI
SpeTri2.0NW_00493650212,921,371 - 12,923,702 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NDUFB11
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX41,770,938 - 41,774,247 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X41,770,929 - 41,773,879 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X46,878,471 - 46,881,284 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NDUFB11
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X44,336,626 - 44,339,635 (-)NCBI
ChlSab1.1 EnsemblX44,336,285 - 44,340,109 (-)Ensembl
Ndufb11
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248873,919,109 - 3,921,643 (-)NCBI

Position Markers
RH12608  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,001,761 - 47,002,071UniSTSGRCh37
Build 36X46,886,705 - 46,887,015RGDNCBI36
CeleraX51,197,081 - 51,197,391RGD
Cytogenetic MapXp11.23UniSTS
HuRefX44,714,242 - 44,714,552UniSTS
GeneMap99-GB4 RH MapX138.25UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:701
Count of miRNA genes:354
Interacting mature miRNAs:384
Transcripts:ENST00000276062, ENST00000377811
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.


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 24
Medium 2432 2981 1723 622 1945 464 4355 2191 3708 417 1424 1608 171 1204 2788 4
Low 3 5 3 1 4 2 7 2 2 1 3 2 1
Below cutoff 2 2 2 1 2 19 10 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NG_052579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001135998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_019056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA287166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF044213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF134476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF251063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL513366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY359056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU682304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS488904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000276062   ⟹   ENSP00000276062
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,142,220 - 47,145,038 (-)Ensembl
RefSeq Acc Id: ENST00000377811   ⟹   ENSP00000367042
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,142,216 - 47,145,504 (-)Ensembl
RefSeq Acc Id: NM_001135998   ⟹   NP_001129470
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,142,216 - 47,144,702 (-)NCBI
GRCh37X47,001,615 - 47,004,609 (-)RGD
CeleraX51,196,935 - 51,199,928 (-)RGD
HuRefX44,714,096 - 44,714,626 (-)RGD
CHM1_1X47,033,379 - 47,036,366 (-)NCBI
Sequence:
RefSeq Acc Id: NM_019056   ⟹   NP_061929
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,142,216 - 47,145,491 (-)NCBI
GRCh37X47,001,615 - 47,004,609 (-)RGD
Build 36X46,886,563 - 46,889,381 (-)NCBI Archive
CeleraX51,196,935 - 51,199,928 (-)RGD
HuRefX44,714,096 - 44,714,626 (-)RGD
CHM1_1X47,033,379 - 47,036,366 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_061929   ⟸   NM_019056
- Peptide Label: isoform 1
- UniProtKB: Q9NX14 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001129470   ⟸   NM_001135998
- Peptide Label: isoform 2
- UniProtKB: Q9NX14 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000367042   ⟸   ENST00000377811
RefSeq Acc Id: ENSP00000276062   ⟸   ENST00000276062

Promoters
RGD ID:6850998
Promoter ID:EP73295
Type:multiple initiation site
Name:HS_P17
Description:Neuronal protein 17.3.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36X46,889,035 - 46,889,095EPD
RGD ID:6809065
Promoter ID:HG_KWN:66579
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:ENST00000377811,   NR_024234
Position:
Human AssemblyChrPosition (strand)Source
Build 36X46,889,061 - 46,890,447 (-)MPROMDB
RGD ID:13605142
Promoter ID:EPDNEW_H28755
Type:initiation region
Name:NDUFB11_1
Description:NADH:ubiquinone oxidoreductase subunit B11
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28757  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,144,691 - 47,144,751EPDNEW
RGD ID:13605144
Promoter ID:EPDNEW_H28757
Type:initiation region
Name:NDUFB11_2
Description:NADH:ubiquinone oxidoreductase subunit B11
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28755  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,145,053 - 47,145,113EPDNEW

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
NM_019056.6(NDUFB11):c.402del (p.Arg134fs) deletion Linear skin defects with multiple congenital anomalies 3 [RCV000170491] ChrX:47142407 [GRCh38]
ChrX:47001806 [GRCh37]
ChrX:Xp11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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: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: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 Xp11.4-11.23(chrX:41434043-47880733)x1 copy number loss See cases [RCV000053088] ChrX:41434043..47880733 [GRCh38]
ChrX:41293296..47619970 [GRCh37]
ChrX:41178240..47625076 [NCBI36]
ChrX:Xp11.4-11.23
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-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_019056.6(NDUFB11):c.262C>T (p.Arg88Ter) single nucleotide variant Histiocytoid cardiomyopathy [RCV000240620]|Linear skin defects with multiple congenital anomalies 1 [RCV000763626]|Linear skin defects with multiple congenital anomalies 3 [RCV000170490]|not provided [RCV000346231] ChrX:47142690 [GRCh38]
ChrX:47002089 [GRCh37]
ChrX:Xp11.3
pathogenic|likely 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
NM_019056.6(NDUFB11):c.152C>A (p.Pro51Gln) single nucleotide variant not provided [RCV000514918] ChrX:47144528 [GRCh38]
ChrX:47003927 [GRCh37]
ChrX:Xp11.3
likely benign
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:43361870-50931794)x3 copy number gain See cases [RCV000134956] ChrX:43361870..50931794 [GRCh38]
ChrX:43221119..50674794 [GRCh37]
ChrX:43106063..50691534 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX: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 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp11.3-11.23(chrX:44765664-49343053)x3 copy number gain See cases [RCV000137271] ChrX:44765664..49343053 [GRCh38]
ChrX:44624910..49218180 [GRCh37]
ChrX:44509854..49105124 [NCBI36]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 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 Xp11.3(chrX:46464096-47419599)x2 copy number gain See cases [RCV000139661] ChrX:46464096..47419599 [GRCh38]
ChrX:46323531..47278998 [GRCh37]
ChrX:46208475..47163942 [NCBI36]
ChrX:Xp11.3
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3 copy number gain See cases [RCV000141567] ChrX:46971389..54130971 [GRCh38]
ChrX:46818746..53957191 [GRCh37]
ChrX:46703690..54174129 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp11.3-11.23(chrX:44632305-47607180)x2 copy number gain See cases [RCV000143089] ChrX:44632305..47607180 [GRCh38]
ChrX:44491551..47466579 [GRCh37]
ChrX:44376495..47351523 [NCBI36]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_019056.6(NDUFB11):c.340T>A (p.Cys114Ser) single nucleotide variant not provided [RCV000520557] ChrX:47142612 [GRCh38]
ChrX:47002011 [GRCh37]
ChrX:Xp11.3
likely 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:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_019056.6(NDUFB11):c.391G>A (p.Glu131Lys) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 30 [RCV000412600]|not provided [RCV000487272] ChrX:47142418 [GRCh38]
ChrX:47001817 [GRCh37]
ChrX:Xp11.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 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 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23(chrX:46950670-47035430)x2 copy number gain See cases [RCV000510283] ChrX:46950670..47035430 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23(chrX:46950670-47024580)x4 copy number gain See cases [RCV000511948] ChrX:46950670..47024580 [GRCh37]
ChrX:Xp11.23
benign
GRCh37/hg19 Xp11.3-11.23(chrX:46326268-48801984)x2 copy number gain See cases [RCV000511234] ChrX:46326268..48801984 [GRCh37]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp11.23(chrX:46647617-47413846)x2 copy number gain not provided [RCV000684329] ChrX:46647617..47413846 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_019056.6(NDUFB11):c.250G>A (p.Val84Ile) single nucleotide variant not provided [RCV000873853] ChrX:47142702 [GRCh38]
ChrX:47002101 [GRCh37]
ChrX:Xp11.3
benign
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_019056.6(NDUFB11):c.420G>A (p.Glu140=) single nucleotide variant not provided [RCV000898364] ChrX:47142389 [GRCh38]
ChrX:47001788 [GRCh37]
ChrX:Xp11.3
likely benign
NM_019056.6(NDUFB11):c.255G>C (p.Trp85Cys) single nucleotide variant not provided [RCV000970528] ChrX:47142697 [GRCh38]
ChrX:47002096 [GRCh37]
ChrX:Xp11.3
benign
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622) copy number gain not provided [RCV000767648] ChrX:43507300..48929622 [GRCh37]
ChrX:Xp11.3-11.23
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
NM_019056.6(NDUFB11):c.389G>A (p.Arg130His) single nucleotide variant Linear skin defects with multiple congenital anomalies 1 [RCV000790978] ChrX:47142420 [GRCh38]
ChrX:47001819 [GRCh37]
ChrX:Xp11.3
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
NM_019056.6(NDUFB11):c.457G>A (p.Asp153Asn) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 30 [RCV000850183] ChrX:47142352 [GRCh38]
ChrX:47001751 [GRCh37]
ChrX:Xp11.3
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
NM_019056.6(NDUFB11):c.283G>A (p.Val95Ile) single nucleotide variant not provided [RCV000909783] ChrX:47142669 [GRCh38]
ChrX:47002068 [GRCh37]
ChrX:Xp11.3
benign
NM_019056.6(NDUFB11):c.360G>A (p.Ala120=) single nucleotide variant not provided [RCV000874860] ChrX:47142592 [GRCh38]
ChrX:47001991 [GRCh37]
ChrX:Xp11.3
benign
NM_019056.6(NDUFB11):c.207+9C>G single nucleotide variant not provided [RCV000874047] ChrX:47144464 [GRCh38]
ChrX:47003863 [GRCh37]
ChrX:Xp11.3
likely benign
GRCh37/hg19 Xp11.23(chrX:46942052-47379255)x3 copy number gain not provided [RCV001258952] ChrX:46942052..47379255 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001135998.3(NDUFB11):c.327G>C (p.Leu109=) single nucleotide variant not provided [RCV001311064] ChrX:47142625 [GRCh38]
ChrX:47002024 [GRCh37]
ChrX:Xp11.3
likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NC_000023.10:g.(?_46696536)_(47436910_?)dup duplication Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001309817] ChrX:46696536..47436910 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001135998.3(NDUFB11):c.260T>C (p.Met87Thr) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 30 [RCV001328582] ChrX:47142692 [GRCh38]
ChrX:47002091 [GRCh37]
ChrX:Xp11.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20372 AgrOrtholog
COSMIC NDUFB11 COSMIC
Ensembl Genes ENSG00000147123 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000276062 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000367042 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000276062 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000377811 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000147123 GTEx
HGNC ID HGNC:20372 ENTREZGENE
Human Proteome Map NDUFB11 Human Proteome Map
InterPro NADH_UbQ_OxRdtase_ESSS_su UniProtKB/Swiss-Prot
KEGG Report hsa:54539 UniProtKB/Swiss-Prot
NCBI Gene 54539 ENTREZGENE
OMIM 300403 OMIM
  300952 OMIM
  301021 OMIM
PANTHER PTHR13327 UniProtKB/Swiss-Prot
Pfam ESSS UniProtKB/Swiss-Prot
PharmGKB PA134924203 PharmGKB
UniProt NDUBB_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q5JRR3 UniProtKB/Swiss-Prot
  Q5JRR4 UniProtKB/Swiss-Prot
  Q6IAB6 UniProtKB/Swiss-Prot
  Q8WZ96 UniProtKB/Swiss-Prot
  Q9BXX9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 NDUFB11  NADH:ubiquinone oxidoreductase subunit B11  NDUFB11  NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa  Symbol and/or name change 5135510 APPROVED