NAA10 (N-alpha-acetyltransferase 10, NatA catalytic subunit) - Rat Genome Database

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Gene: NAA10 (N-alpha-acetyltransferase 10, NatA catalytic subunit) Homo sapiens
Analyze
Symbol: NAA10
Name: N-alpha-acetyltransferase 10, NatA catalytic subunit
RGD ID: 1349422
HGNC Page HGNC
Description: Exhibits peptide alpha-N-acetyltransferase activity. Contributes to acetyltransferase activity and ribosome binding activity. Involved in N-terminal protein amino acid acetylation and negative regulation of maintenance of mitotic sister chromatid cohesion, centromeric. Localizes to NatA complex; cytosol; and nucleolus. Implicated in Ogden syndrome and syndromic microphthalmia 1.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ARD1; ARD1 homolog A, N-acetyltransferase; ARD1 homolog, N-acetyltransferase; ard1 homolog, n-acetyltransferase (s. cerevisiae); ARD1A; ARD1P; arrest defective protein 1; DXS707; FLJ78896; hARD1; MAA; MCOPS1; MGC71248; microphthalmia or anophthalmia and associated anomalies; N(alpha)-acetyltransferase 10, NatA catalytic subunit; N-acetyltransferase ARD1, human homolog of; N-alpha-acetyltransferase 10; N-terminal acetyltransferase complex ARD1 subunit homolog A; natA catalytic subunit; natA catalytic subunit Naa10; NATD; OGDNS; TE2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX153,929,225 - 153,935,080 (-)EnsemblGRCh38hg38GRCh38
GRCh38X153,929,225 - 153,935,037 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,194,678 - 153,200,490 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X152,848,571 - 152,853,662 (-)NCBINCBI36hg18NCBI36
Build 34X152,716,223 - 152,721,315NCBI
CeleraX153,429,094 - 153,434,185 (-)NCBI
Cytogenetic MapXq28NCBI
HuRefX141,847,939 - 141,853,239 (-)NCBIHuRef
CHM1_1X153,069,735 - 153,075,062 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal clavicle morphology  (IAGP)
Abnormal head movements  (IAGP)
Abnormal palmar dermatoglyphics  (IAGP)
Abnormal shoulder morphology  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Abnormality of dental morphology  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the nares  (IAGP)
Aganglionic megacolon  (IAGP)
Agenesis of maxillary lateral incisor  (IAGP)
Aggressive behavior  (IAGP)
Anal atresia  (IAGP)
Ankyloblepharon  (IAGP)
Anophthalmia  (IAGP)
Aplasia/Hypoplasia of the corpus callosum  (IAGP)
Aplasia/Hypoplasia of the eyebrow  (IAGP)
Arrhythmia  (IAGP)
Atrial septal defect  (IAGP)
Autistic behavior  (IAGP)
Bicuspid aortic valve  (IAGP)
Blindness  (IAGP)
Broad hallux  (IAGP)
Camptodactyly  (IAGP)
Camptodactyly of finger  (IAGP)
Capillary malformation  (IAGP)
Cardiogenic shock  (IAGP)
Cataract  (IAGP)
Cerebral atrophy  (IAGP)
Chorioretinal coloboma  (IAGP)
Ciliary body coloboma  (IAGP)
Cleft upper lip  (IAGP)
Clinodactyly  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarse facial features  (IAGP)
Complete duplication of thumb phalanx  (IAGP)
Congenital onset  (IAGP)
Cryptorchidism  (IAGP)
Cutis laxa  (IAGP)
Deep philtrum  (IAGP)
Delayed cranial suture closure  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed gross motor development  (IAGP)
Dental crowding  (IAGP)
Depressed nasal bridge  (IAGP)
Down-sloping shoulders  (IAGP)
Downslanted palpebral fissures  (IAGP)
Enlarged naris  (IAGP)
Epicanthus  (IAGP)
Everted upper lip vermilion  (IAGP)
Excessive daytime somnolence  (IAGP)
External ear malformation  (IAGP)
Facial wrinkling  (IAGP)
Fine hair  (IAGP)
Finger syndactyly  (IAGP)
Frontal bossing  (IAGP)
Generalized hypotonia  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hearing impairment  (IAGP)
High palate  (IAGP)
High, narrow palate  (IAGP)
Hydronephrosis  (IAGP)
Hydroureter  (IAGP)
Hyperlordosis  (IAGP)
Hypertonia  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, severe  (IAGP)
Iris coloboma  (IAGP)
Joint contracture of the hand  (IAGP)
Kyphoscoliosis  (IAGP)
Kyphosis  (IAGP)
Lethargy  (IAGP)
Long eyelashes  (IAGP)
Long thorax  (IAGP)
Low-set ears  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Lumbar hyperlordosis  (IAGP)
Macrotia  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Microphthalmia  (IAGP)
Microretrognathia  (IAGP)
Minimal subcutaneous fat  (IAGP)
Misalignment of teeth  (IAGP)
Motor delay  (IAGP)
Narrow chest  (IAGP)
Narrow forehead  (IAGP)
Neurological speech impairment  (IAGP)
Nystagmus  (IAGP)
Optic nerve coloboma  (IAGP)
Oral cleft  (IAGP)
Overfolded helix  (IAGP)
Palpebral thickening  (IAGP)
Pectus excavatum  (IAGP)
Postnatal growth retardation  (IAGP)
Preauricular skin tag  (IAGP)
Prominent fingertip pads  (IAGP)
Prominent forehead  (IAGP)
Proptosis  (IAGP)
Ptosis  (IAGP)
Pulmonary artery stenosis  (IAGP)
Pulmonary hypoplasia  (IAGP)
Pyloric stenosis  (IAGP)
Radial deviation of finger  (IAGP)
Rectal prolapse  (IAGP)
Recurrent infections  (IAGP)
Recurrent otitis media  (IAGP)
Redundant skin  (IAGP)
Renal hypoplasia  (IAGP)
Renal hypoplasia/aplasia  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Self-mutilation  (IAGP)
Short clavicles  (IAGP)
Short columella  (IAGP)
Short stature  (IAGP)
Shuffling gait  (IAGP)
Sparse and thin eyebrow  (IAGP)
Spastic diplegia  (IAGP)
Stereotypy  (IAGP)
Supraventricular tachycardia  (IAGP)
Syndactyly  (IAGP)
Thick upper lip vermilion  (IAGP)
Thin upper lip vermilion  (IAGP)
Torsade de pointes  (IAGP)
Torticollis  (IAGP)
Underdeveloped nasal alae  (IAGP)
Variable expressivity  (IAGP)
Ventricular extrasystoles  (IAGP)
Ventricular septal defect  (IAGP)
Ventricular tachycardia  (IAGP)
Ventriculomegaly  (IAGP)
Visual impairment  (IAGP)
Webbed neck  (IAGP)
Wide nasal bridge  (IAGP)
X-linked dominant inheritance  (IAGP)
X-linked inheritance  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:7981673   PMID:8889548   PMID:11076863   PMID:11256614   PMID:11393533   PMID:12464182   PMID:12477932   PMID:12888564   PMID:15489334   PMID:15489336   PMID:15496142   PMID:15749829  
PMID:15755738   PMID:15994306   PMID:16189514   PMID:16279846   PMID:16288748   PMID:16376303   PMID:16381901   PMID:16507339   PMID:16511565   PMID:16518407   PMID:16638120   PMID:16823041  
PMID:16964243   PMID:17081983   PMID:17161380   PMID:17620599   PMID:18593917   PMID:18794801   PMID:18991565   PMID:19287988   PMID:19343046   PMID:19420222   PMID:19480662   PMID:19490893  
PMID:19660095   PMID:19716809   PMID:19826488   PMID:19909012   PMID:19913121   PMID:19946888   PMID:20145209   PMID:20154145   PMID:20301552   PMID:20301694   PMID:20360068   PMID:20501853  
PMID:20592467   PMID:20628086   PMID:20639454   PMID:21295525   PMID:21383206   PMID:21516116   PMID:21700266   PMID:21873635   PMID:22261620   PMID:22315407   PMID:22496479   PMID:22580278  
PMID:22863883   PMID:22939629   PMID:23043182   PMID:23272104   PMID:23550278   PMID:23557624   PMID:23624078   PMID:24408909   PMID:24431331   PMID:24797263   PMID:24925029   PMID:25099252  
PMID:25133627   PMID:25338643   PMID:25341044   PMID:25416956   PMID:25421966   PMID:25489052   PMID:25659154   PMID:25720964   PMID:25732826   PMID:25854368   PMID:25921289   PMID:25987439  
PMID:26186194   PMID:26344197   PMID:26496610   PMID:26522270   PMID:26638075   PMID:26646451   PMID:26662107   PMID:26755727   PMID:26967250   PMID:26972000   PMID:27094817   PMID:27422821  
PMID:27659526   PMID:27708256   PMID:27910960   PMID:28190767   PMID:28238651   PMID:28302793   PMID:28514442   PMID:28581483   PMID:28585574   PMID:28775156   PMID:29117863   PMID:29128334  
PMID:29558889   PMID:29748569   PMID:29754825   PMID:29960050   PMID:30021884   PMID:30154412   PMID:30237125   PMID:30463901   PMID:30566892   PMID:30842225   PMID:31091453   PMID:31134698  
PMID:31155310   PMID:31174490   PMID:31496296   PMID:31515488   PMID:31813105   PMID:32296183   PMID:32719332   PMID:32814053   PMID:33255974  


Genomics

Comparative Map Data
NAA10
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX153,929,225 - 153,935,080 (-)EnsemblGRCh38hg38GRCh38
GRCh38X153,929,225 - 153,935,037 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,194,678 - 153,200,490 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X152,848,571 - 152,853,662 (-)NCBINCBI36hg18NCBI36
Build 34X152,716,223 - 152,721,315NCBI
CeleraX153,429,094 - 153,434,185 (-)NCBI
Cytogenetic MapXq28NCBI
HuRefX141,847,939 - 141,853,239 (-)NCBIHuRef
CHM1_1X153,069,735 - 153,075,062 (-)NCBICHM1_1
Naa10
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X72,960,476 - 72,965,550 (-)NCBIGRCm39mm39
GRCm39 EnsemblX72,960,479 - 72,965,550 (-)Ensembl
GRCm38X73,916,870 - 73,921,944 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX73,916,873 - 73,921,944 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X71,162,209 - 71,167,283 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X70,169,595 - 70,174,633 (-)NCBImm8
CeleraX65,169,303 - 65,174,378 (-)NCBICelera
Cytogenetic MapXA7.3NCBI
Naa10
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X151,656,056 - 151,661,304 (-)NCBI
Rnor_6.0 EnsemblX156,863,754 - 156,868,950 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X156,863,655 - 156,868,950 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01152,611,704 - 152,617,018 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X159,843,948 - 159,849,144 (-)NCBIRGSC3.4rn4RGSC3.4
Celera1136,230,914 - 136,236,046 (+)NCBICelera
Cytogenetic MapXq37NCBI
Naa10
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955580603,331 - 612,608 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955580604,805 - 609,978 (-)NCBIChiLan1.0ChiLan1.0
NAA10
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X153,371,135 - 153,376,027 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0X143,484,008 - 143,489,904 (-)NCBIMhudiblu_PPA_v0panPan3
NAA10
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X121,777,658 - 121,782,097 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX121,727,573 - 121,788,860 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX107,106,419 - 107,110,858 (-)NCBI
ROS_Cfam_1.0X124,918,940 - 124,923,379 (-)NCBI
UMICH_Zoey_3.1X120,688,217 - 120,692,656 (-)NCBI
UNSW_CanFamBas_1.0X123,203,614 - 123,208,053 (-)NCBI
UU_Cfam_GSD_1.0X122,964,950 - 122,969,389 (-)NCBI
Naa10
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X119,074,683 - 119,079,358 (-)NCBI
SpeTri2.0NW_004936809812,454 - 817,226 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NAA10
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX124,657,671 - 124,667,052 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X124,658,429 - 124,662,744 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X142,223,246 - 142,227,521 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NAA10
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X128,353,262 - 128,359,222 (-)NCBI
ChlSab1.1 EnsemblX128,352,634 - 128,359,085 (-)Ensembl
Naa10
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624946560,924 - 570,340 (-)NCBI

Position Markers
ECD04043  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,196,613 - 153,197,389UniSTSGRCh37
Build 36X152,849,807 - 152,850,583RGDNCBI36
CeleraX153,430,330 - 153,431,106RGD
Cytogenetic MapXq28UniSTS
HuRefX141,849,272 - 141,850,048UniSTS
ECD04541  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,199,390 - 153,200,151UniSTSGRCh37
Build 36X152,852,584 - 152,853,345RGDNCBI36
CeleraX153,433,107 - 153,433,868RGD
Cytogenetic MapXq28UniSTS
HuRefX141,852,050 - 141,852,811UniSTS
ECD05609  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,195,063 - 153,195,794UniSTSGRCh37
Build 36X152,848,257 - 152,848,988RGDNCBI36
CeleraX153,428,780 - 153,429,511RGD
Cytogenetic MapXq28UniSTS
HuRefX141,847,722 - 141,848,453UniSTS
ECD05772  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,195,850 - 153,196,577UniSTSGRCh37
Build 36X152,849,044 - 152,849,771RGDNCBI36
CeleraX153,429,567 - 153,430,294RGD
Cytogenetic MapXq28UniSTS
HuRefX141,848,509 - 141,849,236UniSTS
ECD05773  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,197,490 - 153,198,217UniSTSGRCh37
Build 36X152,850,684 - 152,851,411RGDNCBI36
CeleraX153,431,207 - 153,431,934RGD
Cytogenetic MapXq28UniSTS
HuRefX141,850,149 - 141,850,877UniSTS
ECD18938  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,201,989 - 153,202,330UniSTSGRCh37
Build 36X152,855,183 - 152,855,524RGDNCBI36
CeleraX153,435,706 - 153,436,047RGD
Cytogenetic MapXq28UniSTS
HuRefX141,854,694 - 141,855,035UniSTS
ECD21378  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,200,810 - 153,201,061UniSTSGRCh37
Build 36X152,854,004 - 152,854,255RGDNCBI36
CeleraX153,434,527 - 153,434,778RGD
Cytogenetic MapXq28UniSTS
HuRefX141,853,515 - 141,853,766UniSTS
REN88205  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,194,840 - 153,195,071UniSTSGRCh37
Build 36X152,848,034 - 152,848,265RGDNCBI36
CeleraX153,428,557 - 153,428,788RGD
HuRefX141,847,499 - 141,847,730UniSTS
REN88206  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,195,060 - 153,195,300UniSTSGRCh37
Build 36X152,848,254 - 152,848,494RGDNCBI36
CeleraX153,428,777 - 153,429,017RGD
Cytogenetic MapXq28UniSTS
HuRefX141,847,719 - 141,847,959UniSTS
REN88207  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,195,280 - 153,195,538UniSTSGRCh37
Build 36X152,848,474 - 152,848,732RGDNCBI36
CeleraX153,428,997 - 153,429,255RGD
Cytogenetic MapXq28UniSTS
HuRefX141,847,939 - 141,848,197UniSTS
REN88208  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,195,518 - 153,195,746UniSTSGRCh37
Build 36X152,848,712 - 152,848,940RGDNCBI36
CeleraX153,429,235 - 153,429,463RGD
Cytogenetic MapXq28UniSTS
HuRefX141,848,177 - 141,848,405UniSTS
REN88209  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,195,707 - 153,195,954UniSTSGRCh37
Build 36X152,848,901 - 152,849,148RGDNCBI36
CeleraX153,429,424 - 153,429,671RGD
Cytogenetic MapXq28UniSTS
HuRefX141,848,366 - 141,848,613UniSTS
REN88210  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,195,930 - 153,196,173UniSTSGRCh37
Build 36X152,849,124 - 152,849,367RGDNCBI36
CeleraX153,429,647 - 153,429,890RGD
Cytogenetic MapXq28UniSTS
HuRefX141,848,589 - 141,848,832UniSTS
REN88211  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,196,153 - 153,196,407UniSTSGRCh37
Build 36X152,849,347 - 152,849,601RGDNCBI36
CeleraX153,429,870 - 153,430,124RGD
Cytogenetic MapXq28UniSTS
HuRefX141,848,812 - 141,849,066UniSTS
REN88212  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,196,390 - 153,196,635UniSTSGRCh37
Build 36X152,849,584 - 152,849,829RGDNCBI36
CeleraX153,430,107 - 153,430,352RGD
Cytogenetic MapXq28UniSTS
HuRefX141,849,049 - 141,849,294UniSTS
REN88213  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,196,615 - 153,196,863UniSTSGRCh37
Build 36X152,849,809 - 152,850,057RGDNCBI36
CeleraX153,430,332 - 153,430,580RGD
Cytogenetic MapXq28UniSTS
HuRefX141,849,274 - 141,849,522UniSTS
REN88214  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,196,839 - 153,197,093UniSTSGRCh37
Build 36X152,850,033 - 152,850,287RGDNCBI36
CeleraX153,430,556 - 153,430,810RGD
Cytogenetic MapXq28UniSTS
HuRefX141,849,498 - 141,849,752UniSTS
REN88215  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,197,053 - 153,197,314UniSTSGRCh37
Build 36X152,850,247 - 152,850,508RGDNCBI36
CeleraX153,430,770 - 153,431,031RGD
Cytogenetic MapXq28UniSTS
HuRefX141,849,712 - 141,849,973UniSTS
REN88216  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,197,301 - 153,197,550UniSTSGRCh37
Build 36X152,850,495 - 152,850,744RGDNCBI36
CeleraX153,431,018 - 153,431,267RGD
Cytogenetic MapXq28UniSTS
HuRefX141,849,960 - 141,850,209UniSTS
REN88217  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,197,531 - 153,197,799UniSTSGRCh37
Build 36X152,850,725 - 152,850,993RGDNCBI36
CeleraX153,431,248 - 153,431,516RGD
Cytogenetic MapXq28UniSTS
HuRefX141,850,190 - 141,850,458UniSTS
REN88218  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,197,797 - 153,198,036UniSTSGRCh37
Build 36X152,850,991 - 152,851,230RGDNCBI36
CeleraX153,431,514 - 153,431,753RGD
Cytogenetic MapXq28UniSTS
HuRefX141,850,456 - 141,850,696UniSTS
REN88219  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,197,978 - 153,198,225UniSTSGRCh37
Build 36X152,851,172 - 152,851,419RGDNCBI36
CeleraX153,431,695 - 153,431,942RGD
Cytogenetic MapXq28UniSTS
HuRefX141,850,638 - 141,850,885UniSTS
REN88220  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,198,196 - 153,198,428UniSTSGRCh37
Build 36X152,851,390 - 152,851,622RGDNCBI36
CeleraX153,431,913 - 153,432,145RGD
Cytogenetic MapXq28UniSTS
HuRefX141,850,856 - 141,851,088UniSTS
REN88221  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,198,401 - 153,198,636UniSTSGRCh37
Build 36X152,851,595 - 152,851,830RGDNCBI36
CeleraX153,432,118 - 153,432,353RGD
Cytogenetic MapXq28UniSTS
HuRefX141,851,061 - 141,851,296UniSTS
REN88222  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,198,613 - 153,198,850UniSTSGRCh37
Build 36X152,851,807 - 152,852,044RGDNCBI36
CeleraX153,432,330 - 153,432,567RGD
Cytogenetic MapXq28UniSTS
HuRefX141,851,273 - 141,851,510UniSTS
REN88223  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,198,706 - 153,198,963UniSTSGRCh37
Build 36X152,851,900 - 152,852,157RGDNCBI36
CeleraX153,432,423 - 153,432,680RGD
Cytogenetic MapXq28UniSTS
HuRefX141,851,366 - 141,851,623UniSTS
REN88224  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,198,944 - 153,199,212UniSTSGRCh37
Build 36X152,852,138 - 152,852,406RGDNCBI36
CeleraX153,432,661 - 153,432,929RGD
Cytogenetic MapXq28UniSTS
HuRefX141,851,604 - 141,851,872UniSTS
REN88225  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,199,189 - 153,199,452UniSTSGRCh37
Build 36X152,852,383 - 152,852,646RGDNCBI36
CeleraX153,432,906 - 153,433,169RGD
Cytogenetic MapXq28UniSTS
HuRefX141,851,849 - 141,852,112UniSTS
REN88226  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,199,442 - 153,199,689UniSTSGRCh37
Build 36X152,852,636 - 152,852,883RGDNCBI36
CeleraX153,433,159 - 153,433,406RGD
Cytogenetic MapXq28UniSTS
HuRefX141,852,102 - 141,852,349UniSTS
REN88227  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,199,669 - 153,199,924UniSTSGRCh37
Build 36X152,852,863 - 152,853,118RGDNCBI36
CeleraX153,433,386 - 153,433,641RGD
Cytogenetic MapXq28UniSTS
HuRefX141,852,329 - 141,852,584UniSTS
REN88228  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,199,904 - 153,200,155UniSTSGRCh37
Build 36X152,853,098 - 152,853,349RGDNCBI36
CeleraX153,433,621 - 153,433,872RGD
Cytogenetic MapXq28UniSTS
HuRefX141,852,564 - 141,852,815UniSTS
REN88229  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,200,135 - 153,200,362UniSTSGRCh37
Build 36X152,853,329 - 152,853,556RGDNCBI36
CeleraX153,433,852 - 153,434,079RGD
Cytogenetic MapXq28UniSTS
HuRefX141,852,795 - 141,853,022UniSTS
REN88230  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,200,725 - 153,200,970UniSTSGRCh37
Build 36X152,853,919 - 152,854,164RGDNCBI36
CeleraX153,434,442 - 153,434,687RGD
Cytogenetic MapXq28UniSTS
REN88231  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,200,942 - 153,201,190UniSTSGRCh37
Build 36X152,854,136 - 152,854,384RGDNCBI36
CeleraX153,434,659 - 153,434,907RGD
Cytogenetic MapXq28UniSTS
HuRefX141,853,647 - 141,853,895UniSTS
REN88232  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,201,031 - 153,201,274UniSTSGRCh37
Build 36X152,854,225 - 152,854,468RGDNCBI36
CeleraX153,434,748 - 153,434,991RGD
Cytogenetic MapXq28UniSTS
HuRefX141,853,736 - 141,853,979UniSTS
REN88233  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,201,987 - 153,202,215UniSTSGRCh37
Build 36X152,855,181 - 152,855,409RGDNCBI36
CeleraX153,435,704 - 153,435,932RGD
Cytogenetic MapXq28UniSTS
HuRefX141,854,692 - 141,854,920UniSTS
REN88234  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,202,136 - 153,202,373UniSTSGRCh37
Build 36X152,855,330 - 152,855,567RGDNCBI36
CeleraX153,435,853 - 153,436,090RGD
Cytogenetic MapXq28UniSTS
HuRefX141,854,841 - 141,855,078UniSTS
stSG603701  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,195,971 - 153,197,179UniSTSGRCh37
Build 36X152,849,165 - 152,850,373RGDNCBI36
CeleraX153,429,688 - 153,430,896RGD
HuRefX141,848,630 - 141,849,838UniSTS
stSG603703  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,198,164 - 153,199,533UniSTSGRCh37
Build 36X152,851,358 - 152,852,727RGDNCBI36
CeleraX153,431,881 - 153,433,250RGD
HuRefX141,850,824 - 141,852,193UniSTS
stSG603705  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,200,990 - 153,202,243UniSTSGRCh37
Build 36X152,854,184 - 152,855,437RGDNCBI36
CeleraX153,434,707 - 153,435,960RGD
HuRefX141,853,695 - 141,854,948UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4863
Count of miRNA genes:1131
Interacting mature miRNAs:1444
Transcripts:ENST00000370009, ENST00000370011, ENST00000370015, ENST00000393710, ENST00000393712, ENST00000432089, ENST00000460996, ENST00000464845, ENST00000466877, ENST00000467451, ENST00000477750, ENST00000477882, ENST00000478177, ENST00000482485, ENST00000484950, ENST00000488481
Prediction methods:Microtar, Miranda, Pita, Pita,Microtar, 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
Medium 2422 2909 1614 521 1896 363 4354 2152 3688 364 1447 1605 175 1 1204 2787 5 2
Low 17 82 112 103 55 102 3 45 46 55 13 8 1 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_031987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK294081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY183134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY183135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI192945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA313208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR979270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U52112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X77588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000370009   ⟹   ENSP00000359026
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,929,924 - 153,935,015 (-)Ensembl
RefSeq Acc Id: ENST00000370011   ⟹   ENSP00000359028
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,930,205 - 153,935,015 (-)Ensembl
RefSeq Acc Id: ENST00000370015   ⟹   ENSP00000359032
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,929,914 - 153,935,041 (-)Ensembl
RefSeq Acc Id: ENST00000393710
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,931,954 - 153,935,015 (-)Ensembl
RefSeq Acc Id: ENST00000393712   ⟹   ENSP00000377315
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,929,921 - 153,934,958 (-)Ensembl
RefSeq Acc Id: ENST00000432089   ⟹   ENSP00000413668
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,930,779 - 153,935,066 (-)Ensembl
RefSeq Acc Id: ENST00000460996
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,930,076 - 153,934,785 (-)Ensembl
RefSeq Acc Id: ENST00000464845   ⟹   ENSP00000417763
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,929,225 - 153,935,037 (-)Ensembl
RefSeq Acc Id: ENST00000466877
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,929,926 - 153,935,015 (-)Ensembl
RefSeq Acc Id: ENST00000467451
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,930,293 - 153,932,258 (-)Ensembl
RefSeq Acc Id: ENST00000477750
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,931,771 - 153,935,080 (-)Ensembl
RefSeq Acc Id: ENST00000477882
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,932,067 - 153,932,982 (-)Ensembl
RefSeq Acc Id: ENST00000478177
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,933,660 - 153,935,015 (-)Ensembl
RefSeq Acc Id: ENST00000482485
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,929,827 - 153,931,440 (-)Ensembl
RefSeq Acc Id: ENST00000484950
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,930,041 - 153,932,982 (-)Ensembl
RefSeq Acc Id: ENST00000488481
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,934,030 - 153,935,006 (-)Ensembl
RefSeq Acc Id: NM_001256119   ⟹   NP_001243048
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,929,225 - 153,935,037 (-)NCBI
GRCh37X153,195,280 - 153,200,607 (-)NCBI
HuRefX141,847,939 - 141,853,239 (-)NCBI
CHM1_1X153,069,735 - 153,075,062 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001256120   ⟹   NP_001243049
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,929,225 - 153,935,037 (-)NCBI
GRCh37X153,195,280 - 153,200,607 (-)NCBI
HuRefX141,847,939 - 141,853,239 (-)NCBI
CHM1_1X153,069,735 - 153,075,062 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003491   ⟹   NP_003482
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,929,225 - 153,935,037 (-)NCBI
GRCh37X153,195,280 - 153,200,607 (-)NCBI
Build 36X152,848,571 - 152,853,662 (-)NCBI Archive
HuRefX141,847,939 - 141,853,239 (-)NCBI
CHM1_1X153,069,735 - 153,075,062 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003482   ⟸   NM_003491
- Peptide Label: isoform 1
- UniProtKB: P41227 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243049   ⟸   NM_001256120
- Peptide Label: isoform 3
- UniProtKB: B7Z9N2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001243048   ⟸   NM_001256119
- Peptide Label: isoform 2
- UniProtKB: P41227 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000359026   ⟸   ENST00000370009
RefSeq Acc Id: ENSP00000359028   ⟸   ENST00000370011
RefSeq Acc Id: ENSP00000359032   ⟸   ENST00000370015
RefSeq Acc Id: ENSP00000417763   ⟸   ENST00000464845
RefSeq Acc Id: ENSP00000413668   ⟸   ENST00000432089
RefSeq Acc Id: ENSP00000377315   ⟸   ENST00000393712
Protein Domains
N-acetyltransferase

Promoters
RGD ID:6808510
Promoter ID:HG_KWN:68588
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000061111
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,849,421 - 152,850,457 (-)MPROMDB
RGD ID:6808512
Promoter ID:HG_KWN:68589
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:OTTHUMT00000061112,   OTTHUMT00000061116,   OTTHUMT00000129562
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,850,871 - 152,851,371 (-)MPROMDB
RGD ID:6808706
Promoter ID:HG_KWN:68590
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000370009,   ENST00000370011,   ENST00000393710,   ENST00000393712,   OTTHUMT00000061108,   OTTHUMT00000061110,   OTTHUMT00000061113,   OTTHUMT00000061114,   OTTHUMT00000061115,   OTTHUMT00000130128,   OTTHUMT00000130130,   OTTHUMT00000130131,   OTTHUMT00000316205,   OTTHUMT00000316206
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,853,576 - 152,854,357 (-)MPROMDB
RGD ID:6852942
Promoter ID:EP74290
Type:initiation region
Name:HS_ARD1
Description:ARD1 homolog, N-acetyltransferase (S. cerevisiae).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,853,661 - 152,853,721EPD
RGD ID:13628554
Promoter ID:EPDNEW_H29515
Type:initiation region
Name:NAA10_2
Description:N-acetyltransferase 10, NatA catalytic subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29516  EPDNEW_H29517  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,930,691 - 153,930,751EPDNEW
RGD ID:13628556
Promoter ID:EPDNEW_H29516
Type:initiation region
Name:NAA10_1
Description:N-acetyltransferase 10, NatA catalytic subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29515  EPDNEW_H29517  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,935,019 - 153,935,079EPDNEW
RGD ID:13628558
Promoter ID:EPDNEW_H29517
Type:initiation region
Name:NAA10_3
Description:N-acetyltransferase 10, NatA catalytic subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29515  EPDNEW_H29516  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,935,259 - 153,935,319EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003491.4(NAA10):c.109T>C (p.Ser37Pro) single nucleotide variant N-terminal acetyltransferase deficiency [RCV000022818] ChrX:153934388 [GRCh38]
ChrX:153199841 [GRCh37]
ChrX:Xq28
pathogenic
NM_003491.4(NAA10):c.471+2T>A single nucleotide variant Lenz microphthalmia syndrome [RCV000088650] ChrX:153930761 [GRCh38]
ChrX:153196214 [GRCh37]
ChrX:Xq28
pathogenic
NM_003491.4(NAA10):c.259G>T (p.Ala87Ser) single nucleotide variant N-terminal acetyltransferase deficiency [RCV000578409] ChrX:153932398 [GRCh38]
ChrX:153197851 [GRCh37]
ChrX:Xq28
likely 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 Xq28(chrX:150036146-156022206)x3 copy number gain See cases [RCV000050946] ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153929344-154367160)x3 copy number gain See cases [RCV000050852] ChrX:153929344..154367160 [GRCh38]
ChrX:153333946..153595528 [GRCh37]
ChrX:152847991..153248722 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq28(chrX:149989929-156022206)x3 copy number gain See cases [RCV000050657] ChrX:149989929..156022206 [GRCh38]
ChrX:149158160..155251871 [GRCh37]
ChrX:148908818..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:153296806-155699618)x1 copy number loss See cases [RCV000051750] ChrX:153296806..155699618 [GRCh38]
ChrX:152568327..154929279 [GRCh37]
ChrX:152215458..154582473 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153722500-154367160)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|See cases [RCV000052524] ChrX:153722500..154367160 [GRCh38]
ChrX:152641149..153248722 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153769547-154394658)x2 copy number gain See cases [RCV000052525] ChrX:153769547..154394658 [GRCh38]
ChrX:152688196..153276194 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153777340-154397779)x3 copy number gain See cases [RCV000052527] ChrX:153777340..154397779 [GRCh38]
ChrX:153333946..153626120 [GRCh37]
ChrX:152695989..153279314 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153787044-154397779)x2 copy number gain See cases [RCV000052528] ChrX:153787044..154397779 [GRCh38]
ChrX:153333946..153626120 [GRCh37]
ChrX:152705693..153279314 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153932045-155611794)x3 copy number gain See cases [RCV000052529] ChrX:153932045..155611794 [GRCh38]
ChrX:152850692..154494649 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] ChrX:152932818..156022206 [GRCh38]
ChrX:152173071..155251871 [GRCh37]
ChrX:151852018..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 copy number gain See cases [RCV000052491] ChrX:153395425..155687381 [GRCh38]
ChrX:152314077..154570236 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq28(chrX:153504314-154144797)x2 copy number gain See cases [RCV000052492] ChrX:153504314..154144797 [GRCh38]
ChrX:152422966..153063464 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 copy number gain See cases [RCV000052474] ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:153585420-154427385)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|See cases [RCV000052521] ChrX:153585420..154427385 [GRCh38]
ChrX:152864376..153655730 [GRCh37]
ChrX:152504072..153308924 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153590730-154380801)x2 copy number gain See cases [RCV000052522] ChrX:153590730..154380801 [GRCh38]
ChrX:152864376..153609161 [GRCh37]
ChrX:152509382..153262355 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153714542-154380803)x2 copy number gain See cases [RCV000052523] ChrX:153714542..154380803 [GRCh38]
ChrX:152633191..153262357 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003491.4(NAA10):c.564G>A (p.Pro188=) single nucleotide variant not provided [RCV000080224] ChrX:153930131 [GRCh38]
ChrX:153195584 [GRCh37]
ChrX:Xq28
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
NM_003491.4(NAA10):c.247C>T (p.Arg83Cys) single nucleotide variant Inborn genetic diseases [RCV000190675]|Intellectual disability [RCV001257765]|N-terminal acetyltransferase deficiency [RCV000225365]|none provided [RCV001286780]|not provided [RCV000255490] ChrX:153932410 [GRCh38]
ChrX:153197863 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|uncertain significance
NM_003491.3(NAA10):c.471+2T>A single nucleotide variant Lenz microphthalmia syndrome [RCV000144262] ChrX:153930761 [GRCh38]
ChrX:153196214 [GRCh37]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_003491.4(NAA10):c.319G>T (p.Val107Phe) single nucleotide variant N-terminal acetyltransferase deficiency [RCV000128608] ChrX:153932338 [GRCh38]
ChrX:153197791 [GRCh37]
ChrX:Xq28
pathogenic
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp) single nucleotide variant N-terminal acetyltransferase deficiency [RCV000128609]|not provided [RCV000413890] ChrX:153932111 [GRCh38]
ChrX:153197564 [GRCh37]
ChrX:Xq28
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
NAA10, ARG116TRP variation N-terminal acetyltransferase deficiency [RCV000202355]   pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq28(chrX:153855152-154092314)x2 copy number gain See cases [RCV000135840] ChrX:153855152..154092314 [GRCh38]
ChrX:152773801..153010966 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153296806-154604471)x2 copy number gain See cases [RCV000135451] ChrX:153296806..154604471 [GRCh38]
ChrX:152568327..153832724 [GRCh37]
ChrX:152215458..153485918 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:153322656-155522304)x2 copy number gain See cases [RCV000136716] ChrX:153322656..155522304 [GRCh38]
ChrX:152864376..154751965 [GRCh37]
ChrX:152241308..154405159 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:151750863-155522304)x1 copy number loss See cases [RCV000136718] ChrX:151750863..155522304 [GRCh38]
ChrX:150919335..154751965 [GRCh37]
ChrX:150669991..154405159 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153276277-156003242)x3 copy number gain See cases [RCV000137498] ChrX:153276277..156003242 [GRCh38]
ChrX:152465185..155232907 [GRCh37]
ChrX:152118379..154886101 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153667032-154394658)x2 copy number gain See cases [RCV000137536] ChrX:153667032..154394658 [GRCh38]
ChrX:152585681..153276194 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:153813894-154140759)x2 copy number gain See cases [RCV000137153] ChrX:153813894..154140759 [GRCh38]
ChrX:152732543..153059427 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28
pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:153727116-154555423)x2 copy number gain See cases [RCV000138393] ChrX:153727116..154555423 [GRCh38]
ChrX:153333946..153783638 [GRCh37]
ChrX:152645765..153436832 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153813894-154383071)x2 copy number gain See cases [RCV000140524] ChrX:153813894..154383071 [GRCh38]
ChrX:153079349..153611431 [GRCh37]
ChrX:152732543..153264625 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153451351-154230630)x2 copy number gain See cases [RCV000140532] ChrX:153451351..154230630 [GRCh38]
ChrX:152716809..153496099 [GRCh37]
ChrX:152370003..153149293 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153802827-154294817)x2 copy number gain See cases [RCV000140537] ChrX:153802827..154294817 [GRCh38]
ChrX:153068282..153523170 [GRCh37]
ChrX:152721476..153176364 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq28(chrX:153392250-153934599)x3 copy number gain See cases [RCV000142157] ChrX:153392250..153934599 [GRCh38]
ChrX:152657708..153200052 [GRCh37]
ChrX:152310902..152853246 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:153861449-154140759)x2 copy number gain See cases [RCV000143114] ChrX:153861449..154140759 [GRCh38]
ChrX:152780098..153059427 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 copy number gain See cases [RCV000143002] ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_003491.4(NAA10):c.125C>T (p.Ser42Phe) single nucleotide variant not provided [RCV000153530] ChrX:153933997 [GRCh38]
ChrX:153199450 [GRCh37]
ChrX:Xq28
uncertain significance
NM_003491.4(NAA10):c.616G>A (p.Gly206Ser) single nucleotide variant not provided [RCV000723971]|not specified [RCV000193342] ChrX:153930079 [GRCh38]
ChrX:153195532 [GRCh37]
ChrX:Xq28
uncertain significance
NM_003491.4(NAA10):c.479G>A (p.Arg160Gln) single nucleotide variant not provided [RCV000724367]|not specified [RCV000239326] ChrX:153930216 [GRCh38]
ChrX:153195669 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance
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: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
NM_003491.4(NAA10):c.128A>C (p.Tyr43Ser) single nucleotide variant N-terminal acetyltransferase deficiency [RCV000202352] ChrX:153933994 [GRCh38]
ChrX:153199447 [GRCh37]
ChrX:Xq28
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
NM_003491.4(NAA10):c.382T>A (p.Phe128Ile) single nucleotide variant Intellectual disability [RCV000824880]|N-terminal acetyltransferase deficiency [RCV000225362] ChrX:153932075 [GRCh38]
ChrX:153197528 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_003491.4(NAA10):c.384T>A (p.Phe128Leu) single nucleotide variant N-terminal acetyltransferase deficiency [RCV000225366]|not provided [RCV000414068] ChrX:153932073 [GRCh38]
ChrX:153197526 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
GRCh37/hg19 Xq28(chrX:153047627-153555804)x2 copy number gain See cases [RCV000239929] ChrX:153047627..153555804 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152912867-153236360)x2 copy number gain See cases [RCV000239969] ChrX:152912867..153236360 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX: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
NM_003491.4(NAA10):c.384T>G (p.Phe128Leu) single nucleotide variant N-terminal acetyltransferase deficiency [RCV000496143]|not provided [RCV000340214] ChrX:153932073 [GRCh38]
ChrX:153197526 [GRCh37]
ChrX:Xq28
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 Xq28(chrX:152993910-153555804)x2 copy number gain See cases [RCV000240396] ChrX:152993910..153555804 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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
NM_003491.4(NAA10):c.201G>C (p.Val67=) single nucleotide variant not provided [RCV000306226] ChrX:153932563 [GRCh38]
ChrX:153198016 [GRCh37]
ChrX:Xq28
uncertain significance
NM_003491.4(NAA10):c.332T>G (p.Val111Gly) single nucleotide variant N-terminal acetyltransferase deficiency [RCV000623587] ChrX:153932325 [GRCh38]
ChrX:153197778 [GRCh37]
ChrX:Xq28
pathogenic
NM_003491.4(NAA10):c.361C>G (p.Leu121Val) single nucleotide variant N-terminal acetyltransferase deficiency [RCV000655942] ChrX:153932096 [GRCh38]
ChrX:153197549 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_003491.4(NAA10):c.339G>T (p.Lys113Asn) single nucleotide variant not provided [RCV000414189] ChrX:153932318 [GRCh38]
ChrX:153197771 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_003491.4(NAA10):c.440T>C (p.Met147Thr) single nucleotide variant Inborn genetic diseases [RCV000623681]|not provided [RCV000414408] ChrX:153930794 [GRCh38]
ChrX:153196247 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:152228560-154930047)x2 copy number gain See cases [RCV000447331] ChrX:152228560..154930047 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:152970475-153524157)x2 copy number gain See cases [RCV000447506] ChrX:152970475..153524157 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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 Xq28(chrX:150253008-155233731)x1 copy number loss See cases [RCV000446761] ChrX:150253008..155233731 [GRCh37]
ChrX:Xq28
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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003491.4(NAA10):c.583C>T (p.Arg195Cys) single nucleotide variant Mental retardation, autosomal dominant [RCV000437786] ChrX:153930112 [GRCh38]
ChrX:153195565 [GRCh37]
ChrX:Xq28
likely benign
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_003491.4(NAA10):c.494_495del (p.Lys165fs) deletion N-terminal acetyltransferase deficiency [RCV000680044] ChrX:153930200..153930201 [GRCh38]
ChrX:153195653..153195654 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_003491.4(NAA10):c.235C>T (p.Arg79Cys) single nucleotide variant Intellectual disability [RCV000851511]|not provided [RCV001305870]|not specified [RCV000436076] ChrX:153932422 [GRCh38]
ChrX:153197875 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance
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 Xq28(chrX:152886474-153368990)x2 copy number gain See cases [RCV000448796] ChrX:152886474..153368990 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003491.4(NAA10):c.215T>C (p.Ile72Thr) single nucleotide variant N-terminal acetyltransferase deficiency [RCV000416440] ChrX:153932549 [GRCh38]
ChrX:153198002 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_003491.4(NAA10):c.11G>T (p.Arg4Leu) single nucleotide variant not provided [RCV000483497] ChrX:153934894 [GRCh38]
ChrX:153200347 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 copy number gain See cases [RCV000510478] ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28
pathogenic
NM_003491.4(NAA10):c.141C>T (p.Asp47=) single nucleotide variant not specified [RCV000499518] ChrX:153933981 [GRCh38]
ChrX:153199434 [GRCh37]
ChrX:Xq28
uncertain significance
NM_003491.4(NAA10):c.92A>G (p.Tyr31Cys) single nucleotide variant not provided [RCV000497688] ChrX:153934405 [GRCh38]
ChrX:153199858 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_003491.4(NAA10):c.613_615del (p.Ser205del) deletion not provided [RCV000498125] ChrX:153930080..153930082 [GRCh38]
ChrX:153195533..153195535 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153097608-153681801)x2 copy number gain See cases [RCV000510362] ChrX:153097608..153681801 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 copy number loss See cases [RCV000511228] ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:151963528-155233731)x1 copy number loss See cases [RCV000510866] ChrX:151963528..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 copy number loss See cases [RCV000510920] ChrX:151311551..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NC_000023.10:g.(?_153128098)_(153599633_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000645140] ChrX:153128098..153599633 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152899437-153624564)x2 copy number gain See cases [RCV000512403] ChrX:152899437..153624564 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq28(chrX:153138672-153665655) copy number gain Microcytic anemia [RCV000626549] ChrX:153138672..153665655 [GRCh37]
ChrX:Xq28
pathogenic
Single allele duplication not provided [RCV000677999] ChrX:152912867..153236360 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:152628304-153594168)x2 copy number gain not provided [RCV000684738] ChrX:152628304..153594168 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152941302-153438781)x3 copy number gain not provided [RCV000684739] ChrX:152941302..153438781 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq28(chrX:153123907-153431401)x2 copy number gain not provided [RCV000684741] ChrX:153123907..153431401 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
NC_000023.10:g.(?_152954010)_(153599633_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000707841] ChrX:152954010..153599633 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153128823)_(153416424_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000708432] ChrX:153128823..153416424 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153128118)_(153416424_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000707765] ChrX:153128118..153416424 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153170600)_(153409869_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000708104] ChrX:153170600..153409869 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153184286)_(153409869_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000708531] ChrX:153184286..153409869 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:152806628-153626649)x2 copy number gain not provided [RCV000753922] ChrX:152806628..153626649 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153184816-153626794)x3 copy number gain not provided [RCV000753930] ChrX:153184816..153626794 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 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:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [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
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_003491.4(NAA10):c.179+10C>T single nucleotide variant not provided [RCV000896160] ChrX:153933933 [GRCh38]
ChrX:153199386 [GRCh37]
ChrX:Xq28
likely benign
NM_003491.4(NAA10):c.577G>C (p.Ala193Pro) single nucleotide variant not provided [RCV000762682] ChrX:153930118 [GRCh38]
ChrX:153195571 [GRCh37]
ChrX:Xq28
uncertain significance
NM_003491.4(NAA10):c.478C>T (p.Arg160Trp) single nucleotide variant not provided [RCV000762683] ChrX:153930217 [GRCh38]
ChrX:153195670 [GRCh37]
ChrX:Xq28
uncertain significance
NM_003491.4(NAA10):c.*39A>G single nucleotide variant Lenz microphthalmia syndrome [RCV001215737]|Microphthalmia-ankyloblepharon-intellectual disability syndrome [RCV000787315] ChrX:153929948 [GRCh38]
ChrX:153195401 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_003491.4(NAA10):c.116C>T (p.Pro39Leu) single nucleotide variant N-terminal acetyltransferase deficiency [RCV000990995] ChrX:153934381 [GRCh38]
ChrX:153199834 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq28(chrX:153174571-153609996) copy number gain Syndromic X-linked intellectual disability Lubs type [RCV000767661] ChrX:153174571..153609996 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NC_000023.10:g.(?_153137587)_(153363142_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000794134] ChrX:153137587..153363142 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_152954020)_(154096327_?)del deletion Adrenoleukodystrophy [RCV000815921] ChrX:152954020..154096327 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
NM_003491.4(NAA10):c.429C>T (p.Asp143=) single nucleotide variant not provided [RCV000922668] ChrX:153930805 [GRCh38]
ChrX:153196258 [GRCh37]
ChrX:Xq28
likely benign
NM_003491.4(NAA10):c.48C>T (p.His16=) single nucleotide variant not provided [RCV000920754] ChrX:153934449 [GRCh38]
ChrX:153199902 [GRCh37]
ChrX:Xq28
likely benign
NM_003491.4(NAA10):c.22-92C>G single nucleotide variant not provided [RCV000836730] ChrX:153934567 [GRCh38]
ChrX:153200020 [GRCh37]
ChrX:Xq28
benign
NC_000023.10:g.(?_153128098)_(153363142_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000801357] ChrX:153128098..153363142 [GRCh37]
ChrX:Xq28
pathogenic
NM_003491.4(NAA10):c.*40A>G single nucleotide variant Lenz microphthalmia syndrome [RCV001215739]|Microphthalmia-ankyloblepharon-intellectual disability syndrome [RCV000787314] ChrX:153929947 [GRCh38]
ChrX:153195400 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_003491.4(NAA10):c.*43A>G single nucleotide variant Lenz microphthalmia syndrome [RCV001215735]|Microphthalmia-ankyloblepharon-intellectual disability syndrome [RCV000787316] ChrX:153929944 [GRCh38]
ChrX:153195397 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_003491.4(NAA10):c.472-245A>C single nucleotide variant not provided [RCV000826272] ChrX:153930468 [GRCh38]
ChrX:153195921 [GRCh37]
ChrX:Xq28
benign
NM_003491.4(NAA10):c.387-45C>T single nucleotide variant not provided [RCV000836685] ChrX:153930892 [GRCh38]
ChrX:153196345 [GRCh37]
ChrX:Xq28
benign
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 Xq28(chrX:153105400-153438105)x2 copy number gain not provided [RCV000846316] ChrX:153105400..153438105 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153128108)_(153609567_?)dup duplication Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000795425] ChrX:153128108..153609567 [GRCh37]
ChrX:Xq28
uncertain significance
NM_003491.4(NAA10):c.387-129G>T single nucleotide variant not provided [RCV000826270] ChrX:153930976 [GRCh38]
ChrX:153196429 [GRCh37]
ChrX:Xq28
benign
NM_003491.4(NAA10):c.471+159A>G single nucleotide variant not provided [RCV000826271] ChrX:153930604 [GRCh38]
ChrX:153196057 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NC_000023.10:g.(?_152990712)_(153650075_?)del deletion Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000823256] ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28
pathogenic
NM_003491.4(NAA10):c.115C>A (p.Pro39Thr) single nucleotide variant N-terminal acetyltransferase deficiency [RCV000789021] ChrX:153934382 [GRCh38]
ChrX:153199835 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_003491.4(NAA10):c.598C>T (p.Leu200=) single nucleotide variant not provided [RCV000896354] ChrX:153930097 [GRCh38]
ChrX:153195550 [GRCh37]
ChrX:Xq28
benign
NM_003491.4(NAA10):c.248G>A (p.Arg83His) single nucleotide variant Intellectual disability [RCV000851497] ChrX:153932409 [GRCh38]
ChrX:153197862 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_003491.4(NAA10):c.377T>G (p.Leu126Arg) single nucleotide variant N-terminal acetyltransferase deficiency [RCV000990994] ChrX:153932080 [GRCh38]
ChrX:153197533 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xq28(chrX:153154008-153624566)x2 copy number gain not provided [RCV000846110] ChrX:153154008..153624566 [GRCh37]
ChrX:Xq28
pathogenic
NM_003491.4(NAA10):c.257T>G (p.Leu86Arg) single nucleotide variant Lenz microphthalmia syndrome [RCV001249627] ChrX:153932400 [GRCh38]
ChrX:153197853 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_003491.4(NAA10):c.180-4C>T single nucleotide variant not provided [RCV000909679] ChrX:153932588 [GRCh38]
ChrX:153198041 [GRCh37]
ChrX:Xq28
likely benign
NM_003491.4(NAA10):c.472-38C>G single nucleotide variant Autistic disorder of childhood onset [RCV001263375] ChrX:153930261 [GRCh38]
ChrX:153195714 [GRCh37]
ChrX:Xq28
uncertain significance
NM_003491.4(NAA10):c.659A>G (p.Glu220Gly) single nucleotide variant not provided [RCV001093005] ChrX:153930036 [GRCh38]
ChrX:153195489 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153029046-153567369)x3 copy number gain not provided [RCV001007368] ChrX:153029046..153567369 [GRCh37]
ChrX:Xq28
pathogenic
NM_003491.4(NAA10):c.47A>C (p.His16Pro) single nucleotide variant Intellectual disability [RCV001195646]|Intellectual disability, severe [RCV001195161]|Neurodevelopmental disorder [RCV001195297] ChrX:153934450 [GRCh38]
ChrX:153199903 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
GRCh37/hg19 Xq28(chrX:153023149-153345755)x2 copy number gain not provided [RCV001007367] ChrX:153023149..153345755 [GRCh37]
ChrX:Xq28
likely pathogenic
NC_000023.10:g.(?_152954010)_(153363142_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV001033929] ChrX:152954010..153363142 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NC_000023.10:g.(?_152990712)_(153650075_?)dup duplication Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001031812] ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28
uncertain significance
NM_003491.4(NAA10):c.386A>C (p.Gln129Pro) single nucleotide variant not provided [RCV001046185] ChrX:153932071 [GRCh38]
ChrX:153197524 [GRCh37]
ChrX:Xq28
uncertain significance
NM_003491.4(NAA10):c.303C>G (p.Asn101Lys) single nucleotide variant N-terminal acetyltransferase deficiency [RCV001248845] ChrX:153932354 [GRCh38]
ChrX:153197807 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:152516781-153368573)x2 copy number gain not provided [RCV001007365] ChrX:152516781..153368573 [GRCh37]
ChrX:Xq28
pathogenic
NM_003491.4(NAA10):c.303C>A (p.Asn101Lys) single nucleotide variant N-terminal acetyltransferase deficiency [RCV001248846] ChrX:153932354 [GRCh38]
ChrX:153197807 [GRCh37]
ChrX:Xq28
uncertain significance
NM_003491.4(NAA10):c.445C>T (p.Arg149Trp) single nucleotide variant Inborn genetic diseases [RCV001265684] ChrX:153930789 [GRCh38]
ChrX:153196242 [GRCh37]
ChrX:Xq28
uncertain significance
NM_003491.4(NAA10):c.311C>A (p.Ala104Asp) single nucleotide variant Inborn genetic diseases [RCV001266224] ChrX:153932346 [GRCh38]
ChrX:153197799 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
NM_003491.4(NAA10):c.430G>A (p.Ala144Thr) single nucleotide variant N-terminal acetyltransferase deficiency [RCV001262912] ChrX:153930804 [GRCh38]
ChrX:153196257 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153113943-153624215)x2 copy number gain not provided [RCV001260058] ChrX:153113943..153624215 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153135257-153594096)x3 copy number gain not provided [RCV001260059] ChrX:153135257..153594096 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152631130-153240286)x3 copy number gain not provided [RCV001260062] ChrX:152631130..153240286 [GRCh37]
ChrX:Xq28
uncertain significance
NM_003491.4(NAA10):c.298G>A (p.Glu100Lys) single nucleotide variant not provided [RCV001267874] ChrX:153932359 [GRCh38]
ChrX:153197812 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_003491.4(NAA10):c.290C>A (p.Ala97Asp) single nucleotide variant N-terminal acetyltransferase deficiency [RCV001329085] ChrX:153932367 [GRCh38]
ChrX:153197820 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_003491.4(NAA10):c.472-2A>C single nucleotide variant N-terminal acetyltransferase deficiency [RCV001329086] ChrX:153930225 [GRCh38]
ChrX:153195678 [GRCh37]
ChrX:Xq28
pathogenic
NM_003491.4(NAA10):c.534C>A (p.Asn178Lys) single nucleotide variant N-terminal acetyltransferase deficiency [RCV001329087] ChrX:153930161 [GRCh38]
ChrX:153195614 [GRCh37]
ChrX:Xq28
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18704 AgrOrtholog
COSMIC NAA10 COSMIC
Ensembl Genes ENSG00000102030 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000359026 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000359028 UniProtKB/TrEMBL
  ENSP00000359032 UniProtKB/TrEMBL
  ENSP00000377315 UniProtKB/TrEMBL
  ENSP00000413668 UniProtKB/TrEMBL
  ENSP00000417763 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000370009 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000370011 UniProtKB/TrEMBL
  ENST00000370015 UniProtKB/TrEMBL
  ENST00000393712 UniProtKB/TrEMBL
  ENST00000432089 UniProtKB/TrEMBL
  ENST00000464845 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000102030 GTEx
HGNC ID HGNC:18704 ENTREZGENE
Human Proteome Map NAA10 Human Proteome Map
InterPro Acyl_CoA_acyltransferase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GNAT_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8260 UniProtKB/Swiss-Prot
NCBI Gene 8260 ENTREZGENE
OMIM 300013 OMIM
  300855 OMIM
  309800 OMIM
Pfam Acetyltransf_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38648 PharmGKB
PROSITE GNAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF55729 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8MWP7_HUMAN UniProtKB/TrEMBL
  B7Z9N2 ENTREZGENE, UniProtKB/TrEMBL
  C9JN83_HUMAN UniProtKB/TrEMBL
  C9JW55_HUMAN UniProtKB/TrEMBL
  F8W808_HUMAN UniProtKB/TrEMBL
  NAA10_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A6NM98 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-11-26 NAA10  N-alpha-acetyltransferase 10, NatA catalytic subunit  NAA10  N(alpha)-acetyltransferase 10, NatA catalytic subunit  Symbol and/or name change 5135510 APPROVED
2017-08-22 NAA10  N(alpha)-acetyltransferase 10, NatA catalytic subunit  MAA  microphthalmia or anophthalmia and associated anomalies  Data Merged 737654 PROVISIONAL
2012-01-11 NAA10  N(alpha)-acetyltransferase 10, NatA catalytic subunit  NAA10  N(alpha)-acetyltransferase 10, NatA catalytic subunit  Symbol and/or name change 5135510 APPROVED
2011-08-16 NAA10  N(alpha)-acetyltransferase 10, NatA catalytic subunit  NAA10  N(alpha)-acetyltransferase 10, NatA catalytic subunit  Symbol and/or name change 5135510 APPROVED
2011-07-27 NAA10  N(alpha)-acetyltransferase 10, NatA catalytic subunit  ARD1A  ARD1 homolog A, N-acetyltransferase (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED