COX7B (cytochrome c oxidase subunit 7B) - Rat Genome Database

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Gene: COX7B (cytochrome c oxidase subunit 7B) Homo sapiens
Analyze
Symbol: COX7B
Name: cytochrome c oxidase subunit 7B
RGD ID: 1344241
HGNC Page HGNC
Description: Predicted to have cytochrome-c oxidase activity. Involved in central nervous system development. Predicted to localize to respiratory chain complex IV. Implicated in linear skin defects with multiple congenital anomalies 2.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: APLCC; cytochrome c oxidase polypeptide VIIb; cytochrome c oxidase subunit 7B, mitochondrial; cytochrome c oxidase subunit VIIb; cytochrome-c oxidase chain VIIb; LSDMCA2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: COX7BP1   COX7BP2   LOC100289479   LOC100507586  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX77,899,440 - 77,907,376 (+)EnsemblGRCh38hg38GRCh38
GRCh38X77,899,468 - 77,907,376 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X77,154,965 - 77,162,873 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X77,041,617 - 77,047,537 (+)NCBINCBI36hg18NCBI36
Build 34X76,961,105 - 76,967,026NCBI
CeleraX77,395,826 - 77,401,746 (+)NCBI
Cytogenetic MapXq21.1NCBI
HuRefX70,740,654 - 70,746,809 (+)NCBIHuRef
CHM1_1X77,047,649 - 77,053,569 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

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 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)
Aplasia cutis congenita  (IAGP)
Arrhythmia  (IAGP)
Asymmetric, linear skin defects  (IAGP)
Atrial septal defect  (IAGP)
Blindness  (IAGP)
Cataract  (IAGP)
Chordee  (IAGP)
Chorioretinal dysplasia  (IAGP)
Cleft earlobe  (IAGP)
Clitoral hypertrophy  (IAGP)
Colpocephaly  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Delayed myelination  (IAGP)
Dermal atrophy  (IAGP)
Dilated cardiomyopathy  (IAGP)
Dysphasia  (IAGP)
Echolalia  (IAGP)
Epispadias  (IAGP)
Erythema  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Functional motor deficit  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
High forehead  (IAGP)
Highly arched eyebrow  (IAGP)
Histiocytoid cardiomyopathy  (IAGP)
Hydrocephalus  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hypertelorism  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplasia of the uterus  (IAGP)
Hypospadias  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, progressive  (IAGP)
Iris coloboma  (IAGP)
Long philtrum  (IAGP)
Male pseudohermaphroditism  (IAGP)
Mandibular aplasia  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Micropenis  (IAGP)
Microphthalmia  (IAGP)
Midface retrusion  (IAGP)
Mitral regurgitation  (IAGP)
Mitral valve prolapse  (IAGP)
Mutism  (IAGP)
Myopia  (IAGP)
Optic disc pallor  (IAGP)
Overriding aorta  (IAGP)
Ovotestis  (IAGP)
Pigmentary retinopathy  (IAGP)
Posterior embryotoxon  (IAGP)
Posteriorly rotated ears  (IAGP)
Psychomotor retardation  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Respiratory distress  (IAGP)
Respiratory failure  (IAGP)
Retinal dysplasia  (IAGP)
Retinal dystrophy  (IAGP)
Retrognathia  (IAGP)
Sacral dimple  (IAGP)
Sandal gap  (IAGP)
Schizophrenia  (IAGP)
Sclerocornea  (IAGP)
Seizure  (IAGP)
Severe short stature  (IAGP)
Short chin  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Specific learning disability  (IAGP)
Status epilepticus  (IAGP)
Tetralogy of Fallot  (IAGP)
Tricuspid regurgitation  (IAGP)
Tricuspid valve prolapse  (IAGP)
Ventricular hypertrophy  (IAGP)
Ventricular septal defect  (IAGP)
Visual impairment  (IAGP)
Visual loss  (IAGP)
Vitritis  (IAGP)
Wide intermamillary distance  (IAGP)
Wide nasal bridge  (IAGP)
Wide nose  (IAGP)
X-linked dominant inheritance  (IAGP)
References

Additional References at PubMed
PMID:1309697   PMID:3007143   PMID:8382530   PMID:8781533   PMID:9660196   PMID:9752724   PMID:12477932   PMID:15489334   PMID:15772651   PMID:20301533   PMID:20301767   PMID:20307258  
PMID:21873635   PMID:22419111   PMID:22860893   PMID:23122588   PMID:25737280   PMID:28380382   PMID:28700943   PMID:30021884   PMID:30367559   PMID:31536960   PMID:32296183  


Genomics

Comparative Map Data
COX7B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX77,899,440 - 77,907,376 (+)EnsemblGRCh38hg38GRCh38
GRCh38X77,899,468 - 77,907,376 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X77,154,965 - 77,162,873 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X77,041,617 - 77,047,537 (+)NCBINCBI36hg18NCBI36
Build 34X76,961,105 - 76,967,026NCBI
CeleraX77,395,826 - 77,401,746 (+)NCBI
Cytogenetic MapXq21.1NCBI
HuRefX70,740,654 - 70,746,809 (+)NCBIHuRef
CHM1_1X77,047,649 - 77,053,569 (+)NCBICHM1_1
Cox7b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X105,059,306 - 105,066,056 (+)NCBIGRCm39mm39
GRCm39 EnsemblX105,059,306 - 105,066,056 (+)Ensembl
GRCm38X106,015,700 - 106,022,450 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX106,015,700 - 106,022,450 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X103,211,039 - 103,217,789 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X102,218,419 - 102,225,169 (+)NCBImm8
CeleraX92,869,417 - 92,876,166 (+)NCBICelera
Cytogenetic MapXDNCBI
Cox7b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X71,083,486 - 71,089,733 (+)NCBI
Rnor_6.0 EnsemblX77,065,397 - 77,071,676 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X77,065,427 - 77,071,676 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X56,188,288 - 56,194,537 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X94,138,056 - 94,144,305 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X94,211,488 - 94,217,737 (+)NCBI
CeleraX72,395,920 - 72,402,169 (+)NCBICelera
Cytogenetic MapXq22NCBI
LOC102020494
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555571,341,934 - 1,348,610 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555571,341,934 - 1,348,610 (+)NCBIChiLan1.0ChiLan1.0
LOC100986707
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X77,194,757 - 77,200,532 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX77,194,757 - 77,200,532 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X67,082,551 - 67,088,492 (+)NCBIMhudiblu_PPA_v0panPan3
LOC100684983
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X60,192,698 - 60,197,547 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX51,205,818 - 51,210,668 (+)NCBI
ROS_Cfam_1.0X61,431,430 - 61,436,280 (+)NCBI
UMICH_Zoey_3.1X59,137,191 - 59,142,048 (+)NCBI
UNSW_CanFamBas_1.0X60,747,818 - 60,752,677 (+)NCBI
UU_Cfam_GSD_1.0X60,335,665 - 60,340,515 (+)NCBI
LOC101967130
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X42,160,201 - 42,166,157 (-)NCBI
SpeTri2.0NW_0049366832,781,614 - 2,787,570 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOC100516480
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX61,962,415 - 62,077,376 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X61,962,383 - 61,969,011 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X70,881,132 - 70,887,766 (+)NCBISscrofa10.2Sscrofa10.2susScr3
COX7B
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X66,832,180 - 66,837,957 (+)NCBI
LOC101715696
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248363,063,775 - 3,069,063 (-)NCBI

Position Markers
RH93329  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372235,590,852 - 35,590,992UniSTSGRCh37
Build 362233,920,852 - 33,920,992RGDNCBI36
Celera2219,393,549 - 19,393,689RGD
Cytogenetic Map22q13UniSTS
Cytogenetic MapXq21.1UniSTS
HuRef2218,552,960 - 18,553,100UniSTS
GeneMap99-GB4 RH Map22103.19UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1117
Count of miRNA genes:633
Interacting mature miRNAs:686
Transcripts:ENST00000373335, ENST00000475465, ENST00000481445
Prediction methods:Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 6
Medium 2439 2335 1723 621 1319 462 4357 2173 3702 417 1358 1613 175 1 1204 2788 6 2
Low 654 3 3 630 3 24 32 2 96
Below cutoff 2 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000373335   ⟹   ENSP00000496880
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX77,899,440 - 77,905,385 (+)Ensembl
RefSeq Acc Id: ENST00000475465   ⟹   ENSP00000497958
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX77,899,463 - 77,903,196 (+)Ensembl
RefSeq Acc Id: ENST00000647835   ⟹   ENSP00000497517
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX77,899,485 - 77,905,461 (+)Ensembl
RefSeq Acc Id: ENST00000650309   ⟹   ENSP00000497474
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX77,899,468 - 77,907,376 (+)Ensembl
RefSeq Acc Id: NM_001866   ⟹   NP_001857
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X77,899,468 - 77,907,376 (+)NCBI
GRCh37X77,154,961 - 77,160,881 (+)RGD
Build 36X77,041,617 - 77,047,537 (+)NCBI Archive
CeleraX77,395,826 - 77,401,746 (+)RGD
HuRefX70,740,654 - 70,746,809 (+)ENTREZGENE
CHM1_1X77,047,649 - 77,053,569 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001857   ⟸   NM_001866
- Peptide Label: precursor
- UniProtKB: P24311 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000496880   ⟸   ENST00000373335
RefSeq Acc Id: ENSP00000497474   ⟸   ENST00000650309
RefSeq Acc Id: ENSP00000497958   ⟸   ENST00000475465
RefSeq Acc Id: ENSP00000497517   ⟸   ENST00000647835

Promoters
RGD ID:6808583
Promoter ID:HG_KWN:67330
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:OTTHUMT00000058970,   OTTHUMT00000058971,   OTTHUMT00000058972
Position:
Human AssemblyChrPosition (strand)Source
Build 36X77,041,331 - 77,041,832 (+)MPROMDB
RGD ID:13627502
Promoter ID:EPDNEW_H29026
Type:initiation region
Name:COX7B_1
Description:cytochrome c oxidase subunit 7B
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
GRCh38X77,899,475 - 77,899,535EPDNEW
RGD ID:6851122
Promoter ID:EP73310
Type:initiation region
Name:HS_COX7B
Description:Cytochrome c oxidase subunit VIIb , nuclear gene encodingmitochondrial protein.
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:No map positions available.

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001866.3(COX7B):c.196del (p.Leu66fs) deletion Linear skin defects with multiple congenital anomalies 2 [RCV000032986] ChrX:77905213 [GRCh38]
ChrX:77160710 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_001866.3(COX7B):c.41-2A>G single nucleotide variant Linear skin defects with multiple congenital anomalies 2 [RCV000032987] ChrX:77902641 [GRCh38]
ChrX:77158138 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_001866.2(COX7B):c.55C>T (p.Gln19Ter) single nucleotide variant Linear skin defects with multiple congenital anomalies 2 [RCV000032988] ChrX:77902657 [GRCh38]
ChrX:77158154 [GRCh37]
ChrX:Xq21.1
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:10679-156022206)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 Xq21.1(chrX:77784830-78691660)x2 copy number gain See cases [RCV000050671] ChrX:77784830..78691660 [GRCh38]
ChrX:77040316..77947157 [GRCh37]
ChrX:76926972..77833813 [NCBI36]
ChrX:Xq21.1
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 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 Xq21.1-23(chrX:77544283-110500317)x1 copy number loss See cases [RCV000051668] ChrX:77544283..110500317 [GRCh38]
ChrX:76799762..109743545 [GRCh37]
ChrX:76686418..109630201 [NCBI36]
ChrX:Xq21.1-23
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: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 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
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 Xq21.1(chrX:77829855-77902263)x2 copy number gain See cases [RCV000052437] ChrX:77829855..77902263 [GRCh38]
ChrX:77085352..77130133 [GRCh37]
ChrX:76972008..77044416 [NCBI36]
ChrX:Xq21.1
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-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 Xq21.1(chrX:77829855-78514258)x3 copy number gain See cases [RCV000054212] ChrX:77829855..78514258 [GRCh38]
ChrX:77085352..77769755 [GRCh37]
ChrX:76972008..77656411 [NCBI36]
ChrX:Xq21.1
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)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: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:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1(chrX:77768771-77928775)x3 copy number gain See cases [RCV000133698] ChrX:77768771..77928775 [GRCh38]
ChrX:77024252..77130133 [GRCh37]
ChrX:76910908..77070928 [NCBI36]
ChrX:Xq21.1
uncertain significance
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 Xq11.1-21.1(chrX:62712219-78605009)x3 copy number gain See cases [RCV000134569] ChrX:62712219..78605009 [GRCh38]
ChrX:61931689..77860506 [GRCh37]
ChrX:61848414..77747162 [NCBI36]
ChrX:Xq11.1-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 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 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31
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 Xq21.1(chrX:77902592-78039013)x1 copy number loss See cases [RCV000135643] ChrX:77902592..78039013 [GRCh38]
ChrX:77044745..77181167 [NCBI36]
ChrX:Xq21.1
uncertain significance
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 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 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: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-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 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 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
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 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 Xq21.1(chrX:77784830-77925954)x2 copy number gain See cases [RCV000138273] ChrX:77784830..77925954 [GRCh38]
ChrX:77040316..77130133 [GRCh37]
ChrX:76926972..77068107 [NCBI36]
ChrX:Xq21.1
uncertain significance
GRCh38/hg38 Xq21.1(chrX:77784830-77925954)x3 copy number gain See cases [RCV000138275] ChrX:77784830..77925954 [GRCh38]
ChrX:77040316..77181451 [GRCh37]
ChrX:76926972..77068107 [NCBI36]
ChrX:Xq21.1
uncertain significance
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 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-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 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 Xq21.1(chrX:77896695-77914768)x3 copy number gain See cases [RCV000140842] ChrX:77896695..77914768 [GRCh38]
ChrX:77038848..77056921 [NCBI36]
ChrX:Xq21.1
conflicting data from submitters
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 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq12-21.1(chrX:66445907-78172208)x3 copy number gain See cases [RCV000142336] ChrX:66445907..78172208 [GRCh38]
ChrX:65665749..77427705 [GRCh37]
ChrX:65582474..77314361 [NCBI36]
ChrX:Xq12-21.1
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 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: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)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
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [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 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 Xp11.21-q21.1(chrX:55240087-78225374)x1 copy number loss See cases [RCV000511311] ChrX:55240087..78225374 [GRCh37]
ChrX:Xp11.21-q21.1
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:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [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 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
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 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_001866.3(COX7B):c.40+5G>C single nucleotide variant not provided [RCV000522766] ChrX:77899598 [GRCh38]
ChrX:77155095 [GRCh37]
ChrX:Xq21.1
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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 Xq13.1-21.1(chrX:71316395-84337550)x3 copy number gain See cases [RCV000447565] ChrX:71316395..84337550 [GRCh37]
ChrX:Xq13.1-21.1
uncertain significance
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001866.3(COX7B):c.165+10A>G single nucleotide variant not provided [RCV000911526]|not specified [RCV000434143] ChrX:77902777 [GRCh38]
ChrX:77158274 [GRCh37]
ChrX:Xq21.1
benign
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001866.3(COX7B):c.48C>A (p.Ser16Arg) single nucleotide variant not provided [RCV000677067]|not specified [RCV000430417] ChrX:77902650 [GRCh38]
ChrX:77158147 [GRCh37]
ChrX:Xq21.1
benign
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 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
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 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001866.3(COX7B):c.7C>G (p.Pro3Ala) single nucleotide variant not provided [RCV000484569] ChrX:77899560 [GRCh38]
ChrX:77155057 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xq21.1(chrX:76959723-77242763)x3 copy number gain See cases [RCV000510582] ChrX:76959723..77242763 [GRCh37]
ChrX:Xq21.1
likely 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 Xp21.1-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 Xq21.1(chrX:77136497-77331185)x1 copy number loss See cases [RCV000512032] ChrX:77136497..77331185 [GRCh37]
ChrX:Xq21.1
uncertain significance
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 Xp11.21-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 Xq21.1(chrX:77145640-77173912)x3 copy number gain See cases [RCV000510831] ChrX:77145640..77173912 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24
pathogenic
NM_001866.3(COX7B):c.-42A>G single nucleotide variant not specified [RCV000607719] ChrX:77899512 [GRCh38]
ChrX:77155009 [GRCh37]
ChrX:Xq21.1
likely benign
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001866.3(COX7B):c.*5C>A single nucleotide variant not provided [RCV000677068] ChrX:77905266 [GRCh38]
ChrX:77160763 [GRCh37]
ChrX:Xq21.1
likely benign
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 Xq21.1(chrX:76820808-78113526)x3 copy number gain not provided [RCV000684349] ChrX:76820808..78113526 [GRCh37]
ChrX:Xq21.1
likely pathogenic
GRCh37/hg19 Xq21.1(chrX:76902857-77454045)x2 copy number gain not provided [RCV000684350] ChrX:76902857..77454045 [GRCh37]
ChrX:Xq21.1
pathogenic
GRCh37/hg19 Xq21.1(chrX:76709799-77196518)x2 copy number gain not provided [RCV000753611] ChrX:76709799..77196518 [GRCh37]
ChrX:Xq21.1
benign
GRCh37/hg19 Xq21.1(chrX:77030645-77205047)x0 copy number loss not provided [RCV000753613] ChrX:77030645..77205047 [GRCh37]
ChrX:Xq21.1
benign
GRCh37/hg19 Xq21.1(chrX:77086428-77160534)x0 copy number loss not provided [RCV000753616] ChrX:77086428..77160534 [GRCh37]
ChrX:Xq21.1
benign
GRCh37/hg19 Xq21.1(chrX:77105685-77160534)x0 copy number loss not provided [RCV000753617] ChrX:77105685..77160534 [GRCh37]
ChrX:Xq21.1
benign
GRCh37/hg19 Xq21.1(chrX:77106045-77161634)x0 copy number loss not provided [RCV000753619] ChrX:77106045..77161634 [GRCh37]
ChrX:Xq21.1
benign
GRCh37/hg19 Xq21.1(chrX:77121695-77161634)x0 copy number loss not provided [RCV000753620] ChrX:77121695..77161634 [GRCh37]
ChrX:Xq21.1
benign
GRCh37/hg19 Xq21.1(chrX:77122745-77160534)x0 copy number loss not provided [RCV000753623] ChrX:77122745..77160534 [GRCh37]
ChrX:Xq21.1
benign
GRCh37/hg19 Xq21.1(chrX:77122845-77160534)x0 copy number loss not provided [RCV000753624] ChrX:77122845..77160534 [GRCh37]
ChrX:Xq21.1
benign
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
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
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_001866.3(COX7B):c.201C>T (p.Ser67=) single nucleotide variant not provided [RCV000940383] ChrX:77905219 [GRCh38]
ChrX:77160716 [GRCh37]
ChrX:Xq21.1
likely benign
NM_001866.3(COX7B):c.217A>G (p.Thr73Ala) single nucleotide variant Linear skin defects with multiple congenital anomalies 2 [RCV000790965] ChrX:77905235 [GRCh38]
ChrX:77160732 [GRCh37]
ChrX:Xq21.1
uncertain significance
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 Xq13.3-21.31(chrX:74667077-90312981)x1 copy number loss not provided [RCV000847338] ChrX:74667077..90312981 [GRCh37]
ChrX:Xq13.3-21.31
pathogenic
GRCh37/hg19 Xq21.1(chrX:77145640-77176642)x2 copy number gain not provided [RCV000848693] ChrX:77145640..77176642 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
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:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.1(chrX:76707749-77398963)x2 copy number gain not provided [RCV001007316] ChrX:76707749..77398963 [GRCh37]
ChrX:Xq21.1
uncertain significance
NC_000023.10:g.(?_77084697)_(77264780_?)dup duplication Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia [RCV001032982] ChrX:77084697..77264780 [GRCh37]
ChrX:Xq21.1
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 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001866.3(COX7B):c.86G>A (p.Arg29His) single nucleotide variant Linear skin defects with multiple congenital anomalies 2 [RCV001330659] ChrX:77902688 [GRCh38]
ChrX:77158185 [GRCh37]
ChrX:Xq21.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2291 AgrOrtholog
COSMIC COX7B COSMIC
Ensembl Genes ENSG00000131174 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000496880 UniProtKB/TrEMBL
  ENSP00000497474 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000497517 UniProtKB/TrEMBL
  ENSP00000497958 UniProtKB/TrEMBL
Ensembl Transcript ENST00000373335 UniProtKB/TrEMBL
  ENST00000475465 UniProtKB/TrEMBL
  ENST00000647835 UniProtKB/TrEMBL
  ENST00000650309 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 4.10.51.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000131174 GTEx
HGNC ID HGNC:2291 ENTREZGENE
Human Proteome Map COX7B Human Proteome Map
InterPro Cyt_c_oxidase_suVIIB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_c_oxidase_suVIIB_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1349 UniProtKB/Swiss-Prot
NCBI Gene 1349 ENTREZGENE
OMIM 300885 OMIM
  300887 OMIM
PANTHER PTHR16716 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam COX7B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26809 PharmGKB
Superfamily-SCOP SSF81423 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A3B3IRN8_HUMAN UniProtKB/TrEMBL
  A0A3B3ISY5_HUMAN UniProtKB/TrEMBL
  A0A3B3ITX0_HUMAN UniProtKB/TrEMBL
  COX7B_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2R4M3 UniProtKB/Swiss-Prot
  Q6ICR1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 COX7B  cytochrome c oxidase subunit 7B  COX7B  cytochrome c oxidase subunit VIIb  Symbol and/or name change 5135510 APPROVED