ATP6AP2 (ATPase H+ transporting accessory protein 2) - Rat Genome Database

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Gene: ATP6AP2 (ATPase H+ transporting accessory protein 2) Homo sapiens
Analyze
Symbol: ATP6AP2
Name: ATPase H+ transporting accessory protein 2
RGD ID: 1346001
HGNC Page HGNC
Description: Predicted to have catalytic activity and signaling receptor activity. Involved in several processes, including angiotensin maturation; nervous system development; and regulation of signal transduction. Localizes to endoplasmic reticulum membrane; external side of plasma membrane; and vacuole. Implicated in X-linked parkinsonism-spasticity syndrome; congenital disorder of glycosylation type II; and syndromic X-linked intellectual disability Hedera type.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: APT6M8-9; ATP6IP2; ATP6M8-9; ATPase H(+)-transporting lysosomal-interacting protein 2; ATPase, H+ transporting, lysosomal (vacuolar proton pump) membrane sector associated protein M8-9; ATPase, H+ transporting, lysosomal accessory protein 2; ATPase, H+ transporting, lysosomal interacting protein 2; CDG2R; ELDF10; embryonic liver differentiation factor 10; ER-localized type I transmembrane adapter; ER-localized type I transmembrane adaptor; HT028; M8-9; MGC99577; MRXE; MRXSH; MSTP009; N14F; prorenin receptor; PRR; renin receptor; renin/prorenin receptor; RENR; V-ATPase M8.9 subunit; vacuolar ATP synthase membrane sector-associated protein M8-9; vacuolar proton ATP synthase membrane sector associated protein M8-9; XMRE; XPDS
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC127011  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX40,579,372 - 40,606,848 (+)EnsemblGRCh38hg38GRCh38
GRCh38X40,580,970 - 40,606,848 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X40,440,222 - 40,466,100 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X40,325,160 - 40,350,833 (+)NCBINCBI36hg18NCBI36
Build 34X40,196,446 - 40,222,125NCBI
CeleraX44,580,390 - 44,606,072 (+)NCBI
Cytogenetic MapXp11.4NCBI
HuRefX38,171,318 - 38,196,989 (+)NCBIHuRef
CHM1_1X40,472,702 - 40,498,380 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
acrolein  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (ISO)
alpha-pinene  (EXP)
amiodarone  (ISO)
amphetamine  (ISO)
arsenite(3-)  (EXP)
auramine O  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (ISO)
C60 fullerene  (ISO)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
celecoxib  (ISO)
chlordecone  (ISO)
chloropicrin  (EXP)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
D-glucose  (ISO)
decabromodiphenyl ether  (ISO)
dexamethasone  (EXP)
dicrotophos  (EXP)
doxorubicin  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
glucose  (ISO)
L-ethionine  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
leflunomide  (ISO)
methyl methanesulfonate  (EXP)
nefazodone  (ISO)
nimesulide  (ISO)
NS-398  (ISO)
omeprazole  (ISO)
ozone  (EXP)
paracetamol  (EXP)
perfluorooctanoic acid  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
rac-lactic acid  (EXP)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
streptozocin  (ISO)
sunitinib  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
trichostatin A  (EXP)
valproic acid  (EXP)
valsartan  (ISO)
vanadium atom  (EXP)
vanadium(0)  (EXP)
vitamin E  (EXP)

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

Human Phenotype
Absent Achilles reflex  (IAGP)
Action tremor  (IAGP)
Agraphesthesia  (IAGP)
Ankle clonus  (IAGP)
Apraxia  (IAGP)
Ascites  (IAGP)
Astereognosia  (IAGP)
Atonic seizure  (IAGP)
Babinski sign  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Bradykinesia  (IAGP)
Calcaneovalgus deformity  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral atrophy  (IAGP)
Cogwheel rigidity  (IAGP)
Cutis laxa  (IAGP)
Decreased circulating antibody level  (IAGP)
Decreased liver function  (IAGP)
Decreased proportion of CD4-positive T cells  (IAGP)
Delayed speech and language development  (IAGP)
Diffuse cerebral atrophy  (IAGP)
Dilated third ventricle  (IAGP)
Dilation of lateral ventricles  (IAGP)
Drooling  (IAGP)
Dysmetria  (IAGP)
Echolalia  (IAGP)
Elevated hepatic transaminase  (IAGP)
Extrapyramidal muscular rigidity  (IAGP)
Frequent falls  (IAGP)
Gait disturbance  (IAGP)
Hepatic steatosis  (IAGP)
Hepatomegaly  (IAGP)
Hyperactive deep tendon reflexes  (IAGP)
Hyperreflexia  (IAGP)
Hypomimic face  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hyporeflexia  (IAGP)
Hyporeflexia of lower limbs  (IAGP)
Hyporeflexia of upper limbs  (IAGP)
Hypospadias  (IAGP)
Inability to walk  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Jaundice  (IAGP)
Left ventricular hypertrophy  (IAGP)
Low-set ears  (IAGP)
Mask-like facies  (IAGP)
Micrognathia  (IAGP)
Micronodular cirrhosis  (IAGP)
Motor delay  (IAGP)
Obesity  (IAGP)
Parkinsonism  (IAGP)
Pes planus  (IAGP)
Recurrent infections  (IAGP)
Resting tremor  (IAGP)
Schizophrenia  (IAGP)
Scissor gait  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Slowly progressive  (IAGP)
Slurred speech  (IAGP)
Spastic paraparesis  (IAGP)
Spasticity  (IAGP)
Type II transferrin isoform profile  (IAGP)
Unsteady gait  (IAGP)
Variable expressivity  (IAGP)
Weak voice  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:9556572   PMID:10931946   PMID:11590366   PMID:11782983   PMID:12045255   PMID:12477932   PMID:15489334   PMID:15746149   PMID:16303743   PMID:16374430   PMID:16401765   PMID:16807542  
PMID:17082479   PMID:17494887   PMID:18698213   PMID:19056867   PMID:19131936   PMID:19199708   PMID:19513539   PMID:19580809   PMID:19615732   PMID:19641301   PMID:19733264   PMID:20093472  
PMID:20385187   PMID:20702505   PMID:20927107   PMID:21103663   PMID:21228785   PMID:21270819   PMID:21316680   PMID:21346687   PMID:21420935   PMID:21516116   PMID:21873635   PMID:21997900  
PMID:22025376   PMID:22407459   PMID:22658674   PMID:22684035   PMID:22721990   PMID:22810585   PMID:22884881   PMID:22930161   PMID:23045457   PMID:23111329   PMID:23277024   PMID:23376485  
PMID:23533145   PMID:23555874   PMID:23595882   PMID:23673200   PMID:24218434   PMID:24223829   PMID:24400720   PMID:24424509   PMID:24472541   PMID:24591529   PMID:25491485   PMID:25503453  
PMID:25503726   PMID:25544563   PMID:25668351   PMID:25681793   PMID:25697868   PMID:25720494   PMID:25737280   PMID:25747895   PMID:25798074   PMID:25802486   PMID:26186194   PMID:26272612  
PMID:26344197   PMID:26467484   PMID:26496610   PMID:26582775   PMID:26625836   PMID:26638075   PMID:26684753   PMID:26972000   PMID:27160552   PMID:27228084   PMID:27342126   PMID:27367528  
PMID:27654965   PMID:28090037   PMID:28298427   PMID:28514442   PMID:28675297   PMID:28692057   PMID:28864001   PMID:28874965   PMID:28986522   PMID:29050747   PMID:29127204   PMID:29180619  
PMID:29350998   PMID:29351470   PMID:29395067   PMID:29568061   PMID:29575757   PMID:29667908   PMID:29995586   PMID:30166553   PMID:30194290   PMID:30374053   PMID:30551366   PMID:30555158  
PMID:30561431   PMID:30985297   PMID:31006538   PMID:31056421   PMID:31073040   PMID:31091453   PMID:31091531   PMID:31164719   PMID:31282603   PMID:31327199   PMID:31527615   PMID:31586073  
PMID:31958319   PMID:32276428   PMID:32296183   PMID:32469890   PMID:32788342   PMID:32877691   PMID:33060197   PMID:33809946  


Genomics

Comparative Map Data
ATP6AP2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX40,579,372 - 40,606,848 (+)EnsemblGRCh38hg38GRCh38
GRCh38X40,580,970 - 40,606,848 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X40,440,222 - 40,466,100 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X40,325,160 - 40,350,833 (+)NCBINCBI36hg18NCBI36
Build 34X40,196,446 - 40,222,125NCBI
CeleraX44,580,390 - 44,606,072 (+)NCBI
Cytogenetic MapXp11.4NCBI
HuRefX38,171,318 - 38,196,989 (+)NCBIHuRef
CHM1_1X40,472,702 - 40,498,380 (+)NCBICHM1_1
Atp6ap2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X12,453,998 - 12,483,290 (+)NCBIGRCm39mm39
GRCm39 EnsemblX12,454,040 - 12,483,288 (+)Ensembl
GRCm38X12,587,759 - 12,617,051 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX12,587,801 - 12,617,049 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X12,164,885 - 12,194,177 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X11,736,552 - 11,773,924 (+)NCBImm8
CeleraX10,281,818 - 10,311,001 (+)NCBICelera
Cytogenetic MapXA1.1NCBI
Atp6ap2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X10,183,983 - 10,210,948 (-)NCBI
Rnor_6.0 EnsemblX11,136,939 - 11,164,915 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X11,137,889 - 11,164,854 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X11,936,459 - 11,963,424 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X22,264,078 - 22,291,988 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX10,708,369 - 10,735,267 (-)NCBICelera
Cytogenetic MapXq12NCBI
Atp6ap2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555652,006,154 - 2,029,921 (-)NCBIChiLan1.0ChiLan1.0
ATP6AP2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X40,730,677 - 40,756,209 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX40,730,677 - 40,756,209 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X33,026,525 - 33,052,252 (+)NCBIMhudiblu_PPA_v0panPan3
ATP6AP2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X35,050,588 - 35,073,633 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX35,050,606 - 35,073,067 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX22,398,893 - 22,421,901 (+)NCBI
ROS_Cfam_1.0X35,099,002 - 35,122,024 (+)NCBI
UMICH_Zoey_3.1X35,178,090 - 35,201,096 (+)NCBI
UNSW_CanFamBas_1.0X35,150,804 - 35,173,213 (+)NCBI
UU_Cfam_GSD_1.0X35,193,579 - 35,216,589 (+)NCBI
Atp6ap2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X27,365,515 - 27,392,087 (+)NCBI
SpeTri2.0NW_0049365027,206,226 - 7,232,798 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ATP6AP2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX36,271,223 - 36,304,183 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X36,271,154 - 36,300,240 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X40,369,340 - 40,398,417 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ATP6AP2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X37,742,550 - 37,769,022 (+)NCBI
ChlSab1.1 EnsemblX37,742,545 - 37,769,062 (+)Ensembl
Atp6ap2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476214,952,313 - 14,975,678 (-)NCBI

Position Markers
DXS1069  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,625,137 - 38,625,395UniSTSGRCh37
GRCh37X38,625,137 - 38,625,396UniSTSGRCh37
Build 36X38,510,081 - 38,510,340RGDNCBI36
CeleraX42,762,763 - 42,763,022RGD
CeleraX42,762,763 - 42,763,021UniSTS
HuRefX36,369,360 - 36,369,618UniSTS
HuRefX36,369,360 - 36,369,619UniSTS
Marshfield Genetic MapX37.33RGD
Genethon Genetic MapX56.1UniSTS
deCODE Assembly MapX60.25UniSTS
Whitehead-YAC Contig MapX UniSTS
DXS8085  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X42,325,554 - 42,325,712UniSTSGRCh37
Build 36X42,210,498 - 42,210,656RGDNCBI36
CeleraX46,468,308 - 46,468,466RGD
Cytogenetic MapXp11.4UniSTS
HuRefX40,058,502 - 40,058,660UniSTS
Marshfield Genetic MapX42.75RGD
Marshfield Genetic MapX42.75UniSTS
Genethon Genetic MapX68.2UniSTS
TNG Radiation Hybrid MapX11473.0UniSTS
deCODE Assembly MapX65.93UniSTS
Whitehead-YAC Contig MapX UniSTS
DXS8102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X39,087,421 - 39,087,660UniSTSGRCh37
Build 36X38,972,365 - 38,972,604RGDNCBI36
CeleraX43,225,058 - 43,225,295RGD
Cytogenetic MapXp11.4UniSTS
HuRefX36,830,461 - 36,830,698UniSTS
Marshfield Genetic MapX37.33RGD
Marshfield Genetic MapX37.33UniSTS
Genethon Genetic MapX55.2UniSTS
DXS8090  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X36,953,961 - 36,954,130UniSTSGRCh37
Build 36X36,863,882 - 36,864,051RGDNCBI36
CeleraX41,078,182 - 41,078,351RGD
Cytogenetic MapXp11.4UniSTS
HuRefX34,737,708 - 34,737,879UniSTS
Marshfield Genetic MapX36.79RGD
Marshfield Genetic MapX36.79UniSTS
Genethon Genetic MapX55.5UniSTS
Stanford-G3 RH MapX1336.0UniSTS
Whitehead-YAC Contig MapX UniSTS
GeneMap99-G3 RH MapX527.0UniSTS
WI-21507  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371197,191,425 - 197,191,723UniSTSGRCh37
Build 361195,458,048 - 195,458,346RGDNCBI36
Celera1170,316,916 - 170,317,214RGD
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map1q31.3UniSTS
GeneMap99-GB4 RH Map1659.95UniSTS
Whitehead-RH Map1815.5UniSTS
NCBI RH Map11631.1UniSTS
SHGC-31934  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X40,465,731 - 40,465,858UniSTSGRCh37
Build 36X40,350,675 - 40,350,802RGDNCBI36
CeleraX44,605,914 - 44,606,041RGD
Cytogenetic MapXp11.4UniSTS
HuRefX38,196,831 - 38,196,958UniSTS
Whitehead-RH MapX38.3UniSTS
GeneMap99-G3 RH MapX680.0UniSTS
RH169  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X40,465,738 - 40,465,851UniSTSGRCh37
Build 36X40,350,682 - 40,350,795RGDNCBI36
CeleraX44,605,921 - 44,606,034RGD
Cytogenetic MapXp11.4UniSTS
HuRefX38,196,838 - 38,196,951UniSTS
GeneMap99-GB4 RH MapX121.02UniSTS
DXS1069  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp11.4UniSTS
Marshfield Genetic MapX37.33UniSTS
Genethon Genetic MapX56.1UniSTS
deCODE Assembly MapX60.25UniSTS
Whitehead-YAC Contig MapX UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1123
Count of miRNA genes:627
Interacting mature miRNAs:676
Transcripts:ENST00000378438, ENST00000423649, ENST00000436783, ENST00000447485, ENST00000479120, ENST00000486558, ENST00000487051, ENST00000535539, ENST00000535777, ENST00000544975
Prediction methods:Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 12 9 1
Medium 2438 2809 1714 613 1908 454 3906 1612 3698 406 1449 1612 175 1 1204 2337 6 2
Low 1 182 12 11 43 11 451 585 36 1 2 451
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC092473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF109363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF248966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF291814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF354120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY038990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY429341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC084541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000378438   ⟹   ENSP00000367697
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,580,958 - 40,606,619 (+)Ensembl
RefSeq Acc Id: ENST00000423649   ⟹   ENSP00000410105
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,580,982 - 40,605,945 (+)Ensembl
RefSeq Acc Id: ENST00000436783   ⟹   ENSP00000403969
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,579,372 - 40,597,661 (+)Ensembl
RefSeq Acc Id: ENST00000447485   ⟹   ENSP00000411317
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,581,036 - 40,605,946 (+)Ensembl
RefSeq Acc Id: ENST00000479120
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,596,918 - 40,598,734 (+)Ensembl
RefSeq Acc Id: ENST00000486558   ⟹   ENSP00000490706
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,580,982 - 40,605,594 (+)Ensembl
RefSeq Acc Id: ENST00000487051
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,580,900 - 40,592,502 (+)Ensembl
RefSeq Acc Id: ENST00000635734   ⟹   ENSP00000489653
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,580,966 - 40,606,588 (+)Ensembl
RefSeq Acc Id: ENST00000635774   ⟹   ENSP00000490733
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,580,937 - 40,606,539 (+)Ensembl
RefSeq Acc Id: ENST00000635829
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,591,259 - 40,606,588 (+)Ensembl
RefSeq Acc Id: ENST00000636196   ⟹   ENSP00000490675
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,580,970 - 40,606,024 (+)Ensembl
RefSeq Acc Id: ENST00000636223
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,605,121 - 40,605,664 (+)Ensembl
RefSeq Acc Id: ENST00000636251   ⟹   ENSP00000489920
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,580,970 - 40,606,617 (+)Ensembl
RefSeq Acc Id: ENST00000636287   ⟹   ENSP00000490452
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,580,998 - 40,606,637 (+)Ensembl
RefSeq Acc Id: ENST00000636409   ⟹   ENSP00000489819
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,580,894 - 40,606,588 (+)Ensembl
RefSeq Acc Id: ENST00000636574   ⟹   ENSP00000490345
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,580,970 - 40,606,635 (+)Ensembl
RefSeq Acc Id: ENST00000636580   ⟹   ENSP00000490083
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,580,970 - 40,606,848 (+)Ensembl
RefSeq Acc Id: ENST00000636639   ⟹   ENSP00000490382
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,580,940 - 40,606,618 (+)Ensembl
RefSeq Acc Id: ENST00000636787   ⟹   ENSP00000490954
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,580,943 - 40,606,598 (+)Ensembl
RefSeq Acc Id: ENST00000636970   ⟹   ENSP00000490462
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,580,960 - 40,606,010 (+)Ensembl
RefSeq Acc Id: ENST00000637019
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,597,618 - 40,599,697 (+)Ensembl
RefSeq Acc Id: ENST00000637140
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,597,337 - 40,599,978 (+)Ensembl
RefSeq Acc Id: ENST00000637165   ⟹   ENSP00000490257
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,600,778 - 40,605,887 (+)Ensembl
RefSeq Acc Id: ENST00000637327   ⟹   ENSP00000490558
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,580,910 - 40,606,606 (+)Ensembl
RefSeq Acc Id: ENST00000637482   ⟹   ENSP00000490532
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,580,970 - 40,606,619 (+)Ensembl
RefSeq Acc Id: ENST00000637526   ⟹   ENSP00000489845
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,580,937 - 40,606,466 (+)Ensembl
RefSeq Acc Id: ENST00000637614   ⟹   ENSP00000490884
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,591,270 - 40,605,815 (+)Ensembl
RefSeq Acc Id: ENST00000637793
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,597,567 - 40,599,697 (+)Ensembl
RefSeq Acc Id: ENST00000637930
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,595,854 - 40,599,650 (+)Ensembl
RefSeq Acc Id: ENST00000637954
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,580,995 - 40,592,470 (+)Ensembl
RefSeq Acc Id: ENST00000637955   ⟹   ENSP00000489622
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,588,998 - 40,605,955 (+)Ensembl
RefSeq Acc Id: ENST00000638046
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,597,571 - 40,600,929 (+)Ensembl
RefSeq Acc Id: ENST00000638153   ⟹   ENSP00000490239
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,580,949 - 40,605,945 (+)Ensembl
RefSeq Acc Id: NM_005765   ⟹   NP_005756
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,580,970 - 40,606,848 (+)NCBI
GRCh37X40,440,141 - 40,465,889 (+)NCBI
Build 36X40,325,160 - 40,350,833 (+)NCBI Archive
HuRefX38,171,318 - 38,196,989 (+)ENTREZGENE
CHM1_1X40,472,702 - 40,498,380 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005756   ⟸   NM_005765
- Peptide Label: precursor
- UniProtKB: O75787 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000410105   ⟸   ENST00000423649
RefSeq Acc Id: ENSP00000490733   ⟸   ENST00000635774
RefSeq Acc Id: ENSP00000489653   ⟸   ENST00000635734
RefSeq Acc Id: ENSP00000489920   ⟸   ENST00000636251
RefSeq Acc Id: ENSP00000490675   ⟸   ENST00000636196
RefSeq Acc Id: ENSP00000490382   ⟸   ENST00000636639
RefSeq Acc Id: ENSP00000490083   ⟸   ENST00000636580
RefSeq Acc Id: ENSP00000490345   ⟸   ENST00000636574
RefSeq Acc Id: ENSP00000489819   ⟸   ENST00000636409
RefSeq Acc Id: ENSP00000490452   ⟸   ENST00000636287
RefSeq Acc Id: ENSP00000490462   ⟸   ENST00000636970
RefSeq Acc Id: ENSP00000490954   ⟸   ENST00000636787
RefSeq Acc Id: ENSP00000489845   ⟸   ENST00000637526
RefSeq Acc Id: ENSP00000490532   ⟸   ENST00000637482
RefSeq Acc Id: ENSP00000490558   ⟸   ENST00000637327
RefSeq Acc Id: ENSP00000490257   ⟸   ENST00000637165
RefSeq Acc Id: ENSP00000489622   ⟸   ENST00000637955
RefSeq Acc Id: ENSP00000490884   ⟸   ENST00000637614
RefSeq Acc Id: ENSP00000490239   ⟸   ENST00000638153
RefSeq Acc Id: ENSP00000367697   ⟸   ENST00000378438
RefSeq Acc Id: ENSP00000490706   ⟸   ENST00000486558
RefSeq Acc Id: ENSP00000411317   ⟸   ENST00000447485
RefSeq Acc Id: ENSP00000403969   ⟸   ENST00000436783

Protein Structures
Name Modeller Protein Id AA Range Protein Structure Video
PRR I-TASSER model O75787 17-350 view protein structure  

Promoters
RGD ID:6808532
Promoter ID:HG_KWN:66462
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000060676,   OTTHUMT00000060679,   OTTHUMT00000060680,   OTTHUMT00000060681,   OTTHUMT00000060682,   UC010NHC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X40,324,726 - 40,325,226 (+)MPROMDB
RGD ID:6852078
Promoter ID:EP73845
Type:initiation region
Name:HS_ATP6IP2
Description:ATPase, H+ transporting, lysosomal (vacuolar proton pump) membranesector associated protein M8-9.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36X40,325,166 - 40,325,226EPD
RGD ID:13605070
Promoter ID:EPDNEW_H28719
Type:initiation region
Name:ATP6AP2_1
Description:ATPase H+ transporting accessory protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,580,970 - 40,581,030EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005765.3(ATP6AP2):c.449C>T (p.Thr150Ile) single nucleotide variant not provided [RCV000521484] ChrX:40597579 [GRCh38]
ChrX:40456831 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_005765.3(ATP6AP2):c.321C>T (p.Asp107=) single nucleotide variant Mental retardation, X-linked, syndromic, Hedera type [RCV000011548] ChrX:40597269 [GRCh38]
ChrX:40456521 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_005765.3(ATP6AP2):c.345C>T (p.Ser115=) single nucleotide variant Parkinsonism with spasticity, X-linked [RCV000074407] ChrX:40597293 [GRCh38]
ChrX:40456545 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.4(chrX:40375929-40810369)x2 copy number gain See cases [RCV000054168] ChrX:40375929..40810369 [GRCh38]
ChrX:40235181..40669622 [GRCh37]
ChrX:40120125..40554566 [NCBI36]
ChrX:Xp11.4
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_005765.3(ATP6AP2):c.268C>G (p.Pro90Ala) single nucleotide variant History of neurodevelopmental disorder [RCV000720938]|Mental retardation, X-linked, syndromic, Hedera type [RCV000549577]|not specified [RCV000081328] ChrX:40591333 [GRCh38]
ChrX:40450585 [GRCh37]
ChrX:Xp11.4
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_005765.3(ATP6AP2):c.765T>C (p.Tyr255=) single nucleotide variant not specified [RCV000081329] ChrX:40600788 [GRCh38]
ChrX:40460040 [GRCh37]
ChrX:Xp11.4
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_005765.3(ATP6AP2):c.285G>A (p.Ser95=) single nucleotide variant History of neurodevelopmental disorder [RCV000720952]|Mental retardation, X-linked, syndromic, Hedera type [RCV001082746]|not provided [RCV000527978]|not specified [RCV000116455] ChrX:40591350 [GRCh38]
ChrX:40450602 [GRCh37]
ChrX:Xp11.4
benign|likely benign|conflicting interpretations of pathogenicity
NM_005765.3(ATP6AP2):c.868G>C (p.Ala290Pro) single nucleotide variant History of neurodevelopmental disorder [RCV000720942]|Mental retardation, X-linked, syndromic, Hedera type [RCV000526186]|not specified [RCV000116456] ChrX:40605570 [GRCh38]
ChrX:40464822 [GRCh37]
ChrX:Xp11.4
benign|likely benign|conflicting interpretations of pathogenicity
NM_005765.3(ATP6AP2):c.189C>T (p.Leu63=) single nucleotide variant History of neurodevelopmental disorder [RCV000721048]|Mental retardation, X-linked, syndromic, Hedera type [RCV000536946]|not specified [RCV000123777] ChrX:40591254 [GRCh38]
ChrX:40450506 [GRCh37]
ChrX:Xp11.4
benign|likely benign
NM_005765.3(ATP6AP2):c.-35G>C single nucleotide variant not specified [RCV000123780] ChrX:40581031 [GRCh38]
ChrX:40440283 [GRCh37]
ChrX:Xp11.4
benign
NM_005765.3(ATP6AP2):c.38-5T>C single nucleotide variant Mental retardation, X-linked, syndromic, Hedera type [RCV000536001]|not specified [RCV000123781] ChrX:40588981 [GRCh38]
ChrX:40448233 [GRCh37]
ChrX:Xp11.4
benign
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_005765.3(ATP6AP2):c.1050T>C (p.Asp350=) single nucleotide variant Mental retardation, X-linked, syndromic, Hedera type [RCV000560745]|not specified [RCV000180624] ChrX:40605752 [GRCh38]
ChrX:40465004 [GRCh37]
ChrX:Xp11.4
benign
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-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 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp11.4(chrX:40165688-40662855)x2 copy number gain See cases [RCV000135289] ChrX:40165688..40662855 [GRCh38]
ChrX:40024941..40522107 [GRCh37]
ChrX:39909885..40407051 [NCBI36]
ChrX:Xp11.4
likely pathogenic
GRCh38/hg38 Xp11.4(chrX:40075793-40934203)x2 copy number gain See cases [RCV000134897] ChrX:40075793..40934203 [GRCh38]
ChrX:39935046..40793456 [GRCh37]
ChrX:39819990..40678400 [NCBI36]
ChrX:Xp11.4
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)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 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_005765.3(ATP6AP2):c.158C>T (p.Ser53Phe) single nucleotide variant not provided [RCV000175810] ChrX:40589106 [GRCh38]
ChrX:40448358 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_005765.3(ATP6AP2):c.980A>G (p.Asn327Ser) single nucleotide variant not provided [RCV000186815] ChrX:40605682 [GRCh38]
ChrX:40464934 [GRCh37]
ChrX:Xp11.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_005765.3(ATP6AP2):c.463C>T (p.Arg155Cys) single nucleotide variant Mental retardation, X-linked, syndromic, Hedera type [RCV001036514]|not provided [RCV000186813] ChrX:40597593 [GRCh38]
ChrX:40456845 [GRCh37]
ChrX:Xp11.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005765.3(ATP6AP2):c.490G>A (p.Val164Ile) single nucleotide variant Mental retardation, X-linked, syndromic, Hedera type [RCV000640918]|Mental retardation, X-linked, syndromic, Hedera type [RCV000767901]|not specified [RCV000186814] ChrX:40597620 [GRCh38]
ChrX:40456872 [GRCh37]
ChrX:Xp11.4
likely benign|uncertain significance
NM_005765.3(ATP6AP2):c.-46C>A single nucleotide variant not specified [RCV000186816] ChrX:40581020 [GRCh38]
ChrX:40440272 [GRCh37]
ChrX:Xp11.4
benign
NM_005765.3(ATP6AP2):c.19C>T (p.Leu7Phe) single nucleotide variant not specified [RCV000186817] ChrX:40581084 [GRCh38]
ChrX:40440336 [GRCh37]
ChrX:Xp11.4
likely benign
NM_005765.3(ATP6AP2):c.217C>T (p.Arg73Trp) single nucleotide variant not provided [RCV000766531]|not specified [RCV000186818] ChrX:40591282 [GRCh38]
ChrX:40450534 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_005765.3(ATP6AP2):c.315T>G (p.Ser105Arg) single nucleotide variant Mental retardation, X-linked, syndromic, Hedera type [RCV000694376]|not provided [RCV000186820] ChrX:40597263 [GRCh38]
ChrX:40456515 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_005765.3(ATP6AP2):c.596G>A (p.Arg199His) single nucleotide variant Mental retardation, X-linked, syndromic, Hedera type [RCV000541972]|not provided [RCV000186821] ChrX:40599599 [GRCh38]
ChrX:40458851 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_005765.3(ATP6AP2):c.940A>T (p.Met314Leu) single nucleotide variant not provided [RCV000186823] ChrX:40605642 [GRCh38]
ChrX:40464894 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_005765.3(ATP6AP2):c.232G>T (p.Val78Leu) single nucleotide variant not provided [RCV000186819] ChrX:40591297 [GRCh38]
ChrX:40450549 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_005765.3(ATP6AP2):c.778G>A (p.Val260Met) single nucleotide variant not provided [RCV000186822] ChrX:40600801 [GRCh38]
ChrX:40460053 [GRCh37]
ChrX:Xp11.4
uncertain significance
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_005765.3(ATP6AP2):c.408G>A (p.Met136Ile) single nucleotide variant Mental retardation, X-linked, syndromic, Hedera type [RCV000548651] ChrX:40597538 [GRCh38]
ChrX:40456790 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_005765.3(ATP6AP2):c.840C>G (p.Ile280Met) single nucleotide variant Mental retardation, X-linked, syndromic, Hedera type [RCV000554584] ChrX:40600863 [GRCh38]
ChrX:40460115 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_005765.3(ATP6AP2):c.953C>A (p.Ala318Asp) single nucleotide variant Mental retardation, X-linked, syndromic, Hedera type [RCV000555915] ChrX:40605655 [GRCh38]
ChrX:40464907 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_005765.3(ATP6AP2):c.534+7G>A single nucleotide variant not provided [RCV000267589] ChrX:40597671 [GRCh38]
ChrX:40456923 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_005765.3(ATP6AP2):c.534+10G>C single nucleotide variant not specified [RCV000604795] ChrX:40597674 [GRCh38]
ChrX:40456926 [GRCh37]
ChrX:Xp11.4
likely benign
NC_000023.10:g.(?_39911342)_(41782261_?)dup duplication Mental retardation, X-linked, syndromic, Hedera type [RCV000640920] ChrX:39911342..41782261 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_005765.3(ATP6AP2):c.859-11C>T single nucleotide variant not specified [RCV000605782] ChrX:40605550 [GRCh38]
ChrX:40464802 [GRCh37]
ChrX:Xp11.4
likely benign
NM_005765.3(ATP6AP2):c.168+6T>A single nucleotide variant Mental retardation, X-linked, syndromic, Hedera type [RCV000416367] ChrX:40589122 [GRCh38]
ChrX:40448374 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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
NM_005765.3(ATP6AP2):c.588+4A>G single nucleotide variant not provided [RCV000434973] ChrX:40598738 [GRCh38]
ChrX:40457990 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_005765.3(ATP6AP2):c.922A>C (p.Asn308His) single nucleotide variant Mental retardation, X-linked, syndromic, Hedera type [RCV000538751]|not specified [RCV000425272] ChrX:40605624 [GRCh38]
ChrX:40464876 [GRCh37]
ChrX:Xp11.4
likely benign|uncertain significance
NM_005765.3(ATP6AP2):c.967A>G (p.Ile323Val) single nucleotide variant not provided [RCV000439642] ChrX:40605669 [GRCh38]
ChrX:40464921 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_005765.3(ATP6AP2):c.397-13A>G single nucleotide variant not specified [RCV000432608] ChrX:40597514 [GRCh38]
ChrX:40456766 [GRCh37]
ChrX:Xp11.4
likely benign
NM_005765.3(ATP6AP2):c.-36C>T single nucleotide variant not specified [RCV000436416] ChrX:40581030 [GRCh38]
ChrX:40440282 [GRCh37]
ChrX:Xp11.4
likely benign
NM_005765.3(ATP6AP2):c.822T>C (p.Ile274=) single nucleotide variant not specified [RCV000439950] ChrX:40600845 [GRCh38]
ChrX:40460097 [GRCh37]
ChrX:Xp11.4
likely benign
NM_005765.3(ATP6AP2):c.300+19A>C single nucleotide variant not specified [RCV000426021] ChrX:40591384 [GRCh38]
ChrX:40450636 [GRCh37]
ChrX:Xp11.4
likely benign
NM_005765.3(ATP6AP2):c.92G>A (p.Arg31Gln) single nucleotide variant not provided [RCV000426220] ChrX:40589040 [GRCh38]
ChrX:40448292 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp21.1-11.3(chrX:36667388-44316141)x1 copy number loss See cases [RCV000446005] ChrX:36667388..44316141 [GRCh37]
ChrX:Xp21.1-11.3
pathogenic
NM_005765.3(ATP6AP2):c.212G>A (p.Arg71His) single nucleotide variant Congenital disorder of glycosylation, type IIr [RCV001078441]|not provided [RCV000426522] ChrX:40591277 [GRCh38]
ChrX:40450529 [GRCh37]
ChrX:Xp11.4
pathogenic|uncertain significance
NM_005765.3(ATP6AP2):c.284C>T (p.Ser95Leu) single nucleotide variant not provided [RCV000444709] ChrX:40591349 [GRCh38]
ChrX:40450601 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.4(chrX:40456453-40487150)x2 copy number gain See cases [RCV000448153] ChrX:40456453..40487150 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_005765.3(ATP6AP2):c.535-14dup duplication not specified [RCV000483603] ChrX:40598658..40598659 [GRCh38]
ChrX:40457910..40457911 [GRCh37]
ChrX:Xp11.4
likely benign
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
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 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
NM_005765.3(ATP6AP2):c.190G>A (p.Ala64Thr) single nucleotide variant not provided [RCV000494269] ChrX:40591255 [GRCh38]
ChrX:40450507 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_005765.3(ATP6AP2):c.423C>T (p.Asn141=) single nucleotide variant not provided [RCV000524796] ChrX:40597553 [GRCh38]
ChrX:40456805 [GRCh37]
ChrX:Xp11.4
likely benign
NM_005765.3(ATP6AP2):c.858G>A (p.Ala286=) single nucleotide variant Mental retardation, X-linked, syndromic, Hedera type [RCV000640919] ChrX:40600881 [GRCh38]
ChrX:40460133 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_005765.3(ATP6AP2):c.222T>G (p.Ala74=) single nucleotide variant not specified [RCV000607591] ChrX:40591287 [GRCh38]
ChrX:40450539 [GRCh37]
ChrX:Xp11.4
likely benign
NM_005765.3(ATP6AP2):c.588+7A>G single nucleotide variant not specified [RCV000613745] ChrX:40598741 [GRCh38]
ChrX:40457993 [GRCh37]
ChrX:Xp11.4
likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_005765.3(ATP6AP2):c.160G>T (p.Val54Leu) single nucleotide variant Mental retardation, X-linked, syndromic, Hedera type [RCV001056580] ChrX:40589108 [GRCh38]
ChrX:40448360 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_005765.3(ATP6AP2):c.1015A>G (p.Ile339Val) single nucleotide variant Mental retardation, X-linked, syndromic, Hedera type [RCV001060087] ChrX:40605717 [GRCh38]
ChrX:40464969 [GRCh37]
ChrX:Xp11.4
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
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
NM_005765.3(ATP6AP2):c.472C>T (p.Leu158=) single nucleotide variant not provided [RCV000864737] ChrX:40597602 [GRCh38]
ChrX:40456854 [GRCh37]
ChrX:Xp11.4
likely benign
NM_005765.3(ATP6AP2):c.535-312G>A single nucleotide variant not provided [RCV000832207] ChrX:40598369 [GRCh38]
ChrX:40457621 [GRCh37]
ChrX:Xp11.4
likely benign
NM_005765.3(ATP6AP2):c.357G>A (p.Glu119=) single nucleotide variant not provided [RCV000937156] ChrX:40597305 [GRCh38]
ChrX:40456557 [GRCh37]
ChrX:Xp11.4
benign
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_005765.3(ATP6AP2):c.588+260G>A single nucleotide variant not provided [RCV000828889] ChrX:40598994 [GRCh38]
ChrX:40458246 [GRCh37]
ChrX:Xp11.4
benign
NC_000023.11:g.40580946G>C single nucleotide variant not provided [RCV000830095] ChrX:40580946 [GRCh38]
ChrX:40440198 [GRCh37]
ChrX:Xp11.4
likely benign
NM_005765.3(ATP6AP2):c.300+309G>C single nucleotide variant not provided [RCV000833543] ChrX:40591674 [GRCh38]
ChrX:40450926 [GRCh37]
ChrX:Xp11.4
likely benign
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
NM_005765.3(ATP6AP2):c.38-104G>A single nucleotide variant not provided [RCV000837181] ChrX:40588882 [GRCh38]
ChrX:40448134 [GRCh37]
ChrX:Xp11.4
likely benign
NC_000023.11:g.40580818A>T single nucleotide variant not provided [RCV000837209] ChrX:40580818 [GRCh38]
ChrX:40440070 [GRCh37]
ChrX:Xp11.4
likely benign
NC_000023.11:g.40580842C>T single nucleotide variant not provided [RCV000837210] ChrX:40580842 [GRCh38]
ChrX:40440094 [GRCh37]
ChrX:Xp11.4
likely benign
NM_005765.3(ATP6AP2):c.301-206T>C single nucleotide variant not provided [RCV000837211] ChrX:40597043 [GRCh38]
ChrX:40456295 [GRCh37]
ChrX:Xp11.4
benign
NM_005765.3(ATP6AP2):c.301-204A>T single nucleotide variant not provided [RCV000837212] ChrX:40597045 [GRCh38]
ChrX:40456297 [GRCh37]
ChrX:Xp11.4
benign
NM_005765.3(ATP6AP2):c.534+191C>A single nucleotide variant not provided [RCV000837213] ChrX:40597855 [GRCh38]
ChrX:40457107 [GRCh37]
ChrX:Xp11.4
likely benign
NM_005765.3(ATP6AP2):c.534+230G>A single nucleotide variant not provided [RCV000837214] ChrX:40597894 [GRCh38]
ChrX:40457146 [GRCh37]
ChrX:Xp11.4
benign
NM_005765.3(ATP6AP2):c.38-281TTTG[3] microsatellite not provided [RCV000827734] ChrX:40588704..40588705 [GRCh38]
ChrX:40447956..40447957 [GRCh37]
ChrX:Xp11.4
benign
NM_005765.3(ATP6AP2):c.396+20T>C single nucleotide variant not provided [RCV000827654] ChrX:40597364 [GRCh38]
ChrX:40456616 [GRCh37]
ChrX:Xp11.4
likely benign
NM_005765.3(ATP6AP2):c.301-295G>A single nucleotide variant not provided [RCV000831647] ChrX:40596954 [GRCh38]
ChrX:40456206 [GRCh37]
ChrX:Xp11.4
likely benign
NM_005765.3(ATP6AP2):c.739-165A>C single nucleotide variant not provided [RCV000837671] ChrX:40600597 [GRCh38]
ChrX:40459849 [GRCh37]
ChrX:Xp11.4
benign
NC_000023.11:g.40580909T>C single nucleotide variant not provided [RCV000833168] ChrX:40580909 [GRCh38]
ChrX:40440161 [GRCh37]
ChrX:Xp11.4
likely benign
NC_000023.11:g.40580783G>T single nucleotide variant not provided [RCV000833542] ChrX:40580783 [GRCh38]
ChrX:40440035 [GRCh37]
ChrX:Xp11.4
likely benign
NM_005765.3(ATP6AP2):c.858+83A>T single nucleotide variant not provided [RCV000830016] ChrX:40600964 [GRCh38]
ChrX:40460216 [GRCh37]
ChrX:Xp11.4
benign
NM_005765.3(ATP6AP2):c.738+92T>C single nucleotide variant not provided [RCV000832503] ChrX:40599833 [GRCh38]
ChrX:40459085 [GRCh37]
ChrX:Xp11.4
benign
NM_005765.3(ATP6AP2):c.516T>C (p.Ser172=) single nucleotide variant Mental retardation, X-linked, syndromic, Hedera type [RCV000937157] ChrX:40597646 [GRCh38]
ChrX:40456898 [GRCh37]
ChrX:Xp11.4
likely benign
GRCh37/hg19 Xp21.1-11.3(chrX:32849282-43713387)x1 copy number loss not provided [RCV001007291] ChrX:32849282..43713387 [GRCh37]
ChrX:Xp21.1-11.3
pathogenic
NM_005765.3(ATP6AP2):c.469C>T (p.Arg157Cys) single nucleotide variant Mental retardation, X-linked, syndromic, Hedera type [RCV001228558] ChrX:40597599 [GRCh38]
ChrX:40456851 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp11.4(chrX:38056276-40565244)x3 copy number gain not provided [RCV000845673] ChrX:38056276..40565244 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_005765.3(ATP6AP2):c.428T>C (p.Val143Ala) single nucleotide variant Mental retardation, X-linked, syndromic, Hedera type [RCV001246557] ChrX:40597558 [GRCh38]
ChrX:40456810 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
NM_005765.3(ATP6AP2):c.50A>G (p.Asn17Ser) single nucleotide variant Mental retardation, X-linked, syndromic, Hedera type [RCV001069354] ChrX:40588998 [GRCh38]
ChrX:40448250 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.11:g.(?_40581046)_(40605775_?)dup duplication Mental retardation, X-linked, syndromic, Hedera type [RCV001033282] ChrX:40440298..40465027 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_005765.3(ATP6AP2):c.301-11_301-10del deletion Mental retardation, X-linked, syndromic, Hedera type [RCV001078442] ChrX:40597238..40597239 [GRCh38]
ChrX:40456490..40456491 [GRCh37]
ChrX:Xp11.4
pathogenic
NC_000023.10:g.(?_30326313)_(41000684_?)del deletion Ornithine carbamoyltransferase deficiency [RCV001033914] ChrX:30326313..41000684 [GRCh37]
ChrX:Xp21.2-11.4
pathogenic
NM_005765.3(ATP6AP2):c.218G>A (p.Arg73Gln) single nucleotide variant Mental retardation, X-linked, syndromic, Hedera type [RCV001068000] ChrX:40591283 [GRCh38]
ChrX:40450535 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_005765.3(ATP6AP2):c.293T>C (p.Leu98Ser) single nucleotide variant Congenital disorder of glycosylation, type IIr [RCV001078440] ChrX:40591358 [GRCh38]
ChrX:40450610 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp11.4-11.3(chrX:39645568-44199000) copy number loss Cardiomyopathy [RCV001352652] ChrX:39645568..44199000 [GRCh37]
ChrX:Xp11.4-11.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_005765.3(ATP6AP2):c.530A>G (p.Asn177Ser) single nucleotide variant Mental retardation, X-linked, syndromic, Hedera type [RCV001316007] ChrX:40597660 [GRCh38]
ChrX:40456912 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.10:g.(?_39911356)_(40465012_?)dup duplication Oculofaciocardiodental syndrome [RCV001352276] ChrX:39911356..40465012 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_005765.3(ATP6AP2):c.455G>A (p.Arg152His) single nucleotide variant Mental retardation, X-linked, syndromic, Hedera type [RCV001344097] ChrX:40597585 [GRCh38]
ChrX:40456837 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_005765.3(ATP6AP2):c.33G>A (p.Val11=) single nucleotide variant Mental retardation, X-linked, syndromic, Hedera type [RCV001307919] ChrX:40581098 [GRCh38]
ChrX:40440350 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_005765.3(ATP6AP2):c.289C>T (p.Pro97Ser) single nucleotide variant Mental retardation, X-linked, syndromic, Hedera type [RCV001323396] ChrX:40591354 [GRCh38]
ChrX:40450606 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_005765.3(ATP6AP2):c.432T>C (p.Phe144=) single nucleotide variant not provided [RCV001310707] ChrX:40597562 [GRCh38]
ChrX:40456814 [GRCh37]
ChrX:Xp11.4
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18305 AgrOrtholog
COSMIC ATP6AP2 COSMIC
Ensembl Genes ENSG00000182220 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000367697 UniProtKB/TrEMBL
  ENSP00000403969 UniProtKB/TrEMBL
  ENSP00000410105 UniProtKB/TrEMBL
  ENSP00000411317 UniProtKB/TrEMBL
  ENSP00000489622 UniProtKB/TrEMBL
  ENSP00000489653 UniProtKB/TrEMBL
  ENSP00000489819 UniProtKB/Swiss-Prot
  ENSP00000489845 UniProtKB/TrEMBL
  ENSP00000489920 UniProtKB/TrEMBL
  ENSP00000490083 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000490239 UniProtKB/TrEMBL
  ENSP00000490257 UniProtKB/TrEMBL
  ENSP00000490345 UniProtKB/TrEMBL
  ENSP00000490382 UniProtKB/TrEMBL
  ENSP00000490452 UniProtKB/TrEMBL
  ENSP00000490462 UniProtKB/TrEMBL
  ENSP00000490532 UniProtKB/TrEMBL
  ENSP00000490558 UniProtKB/TrEMBL
  ENSP00000490675 UniProtKB/TrEMBL
  ENSP00000490706 UniProtKB/TrEMBL
  ENSP00000490733 UniProtKB/TrEMBL
  ENSP00000490884 UniProtKB/TrEMBL
  ENSP00000490954 UniProtKB/TrEMBL
Ensembl Transcript ENST00000378438 UniProtKB/TrEMBL
  ENST00000423649 UniProtKB/TrEMBL
  ENST00000436783 UniProtKB/TrEMBL
  ENST00000447485 UniProtKB/TrEMBL
  ENST00000486558 UniProtKB/TrEMBL
  ENST00000635734 UniProtKB/TrEMBL
  ENST00000635774 UniProtKB/TrEMBL
  ENST00000636196 UniProtKB/TrEMBL
  ENST00000636251 UniProtKB/TrEMBL
  ENST00000636287 UniProtKB/TrEMBL
  ENST00000636409 UniProtKB/Swiss-Prot
  ENST00000636574 UniProtKB/TrEMBL
  ENST00000636580 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000636639 UniProtKB/TrEMBL
  ENST00000636787 UniProtKB/TrEMBL
  ENST00000636970 UniProtKB/TrEMBL
  ENST00000637165 UniProtKB/TrEMBL
  ENST00000637327 UniProtKB/TrEMBL
  ENST00000637482 UniProtKB/TrEMBL
  ENST00000637526 UniProtKB/TrEMBL
  ENST00000637614 UniProtKB/TrEMBL
  ENST00000637955 UniProtKB/TrEMBL
  ENST00000638153 UniProtKB/TrEMBL
GTEx ENSG00000182220 GTEx
HGNC ID HGNC:18305 ENTREZGENE
Human Proteome Map ATP6AP2 Human Proteome Map
InterPro Alkaline_phosphatase_core UniProtKB/TrEMBL
  Renin_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10159 UniProtKB/Swiss-Prot
NCBI Gene 10159 ENTREZGENE
OMIM 300423 OMIM
  300556 OMIM
  300911 OMIM
  301045 OMIM
PANTHER PTHR13351 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Renin_r UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38523 PharmGKB
Superfamily-SCOP SSF53649 UniProtKB/TrEMBL
UniProt A0A1B0GTB0_HUMAN UniProtKB/TrEMBL
  A0A1B0GTD6_HUMAN UniProtKB/TrEMBL
  A0A1B0GTU8_HUMAN UniProtKB/TrEMBL
  A0A1B0GU12_HUMAN UniProtKB/TrEMBL
  A0A1B0GUT7_HUMAN UniProtKB/TrEMBL
  A0A1B0GUV3_HUMAN UniProtKB/TrEMBL
  A0A1B0GV24_HUMAN UniProtKB/TrEMBL
  A0A1B0GV60_HUMAN UniProtKB/TrEMBL
  A0A1B0GVB9_HUMAN UniProtKB/TrEMBL
  A0A1B0GVC7_HUMAN UniProtKB/TrEMBL
  A0A1B0GVI9_HUMAN UniProtKB/TrEMBL
  A0A1B0GVW0_HUMAN UniProtKB/TrEMBL
  A0A1B0GVZ1_HUMAN UniProtKB/TrEMBL
  A0A1B0GW13_HUMAN UniProtKB/TrEMBL
  A0A1B0GWD6_HUMAN UniProtKB/TrEMBL
  A0A1B0GWJ8_HUMAN UniProtKB/TrEMBL
  A0A1C7CYW4_HUMAN UniProtKB/TrEMBL
  B7Z1I9_HUMAN UniProtKB/TrEMBL
  B7Z413_HUMAN UniProtKB/TrEMBL
  H7C240_HUMAN UniProtKB/TrEMBL
  H7C3E1_HUMAN UniProtKB/TrEMBL
  O75787 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B7Z9I3 UniProtKB/Swiss-Prot
  H0Y750 UniProtKB/TrEMBL
  Q5QTQ7 UniProtKB/Swiss-Prot
  Q6T7F5 UniProtKB/Swiss-Prot
  Q8NBP3 UniProtKB/Swiss-Prot
  Q8NG15 UniProtKB/Swiss-Prot
  Q96FV6 UniProtKB/Swiss-Prot
  Q96LB5 UniProtKB/Swiss-Prot
  Q9H2P8 UniProtKB/Swiss-Prot
  Q9UG89 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 ATP6AP2  ATPase H+ transporting accessory protein 2  ATP6AP2  ATPase, H+ transporting, lysosomal accessory protein 2  Symbol and/or name change 5135510 APPROVED