PIGA (phosphatidylinositol glycan anchor biosynthesis class A) - Rat Genome Database

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Gene: PIGA (phosphatidylinositol glycan anchor biosynthesis class A) Homo sapiens
Analyze
Symbol: PIGA
Name: phosphatidylinositol glycan anchor biosynthesis class A
RGD ID: 1607087
HGNC Page HGNC
Description: Predicted to have phosphatidylinositol N-acetylglucosaminyltransferase activity. Predicted to be involved in GPI anchor biosynthetic process. Localizes to glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex. Implicated in multiple congenital anomalies-hypotonia-seizures syndrome 2 and paroxysmal nocturnal hemoglobinuria.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: class A GlcNAc-inositol phospholipid assembly protein; GLCNAC-PI synthesis protein; GPI anchor biosynthesis; GPI3; MCAHS2; phosphatidylinositol glycan anchor biosynthesis, class A; phosphatidylinositol N-acetylglucosaminyltransferase subunit A; phosphatidylinositol-glycan biosynthesis, class A protein; PIG-A; PNH1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: PIGAP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX15,319,452 - 15,335,554 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX15,319,451 - 15,335,580 (-)EnsemblGRCh38hg38GRCh38
GRCh38X15,319,451 - 15,335,554 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X15,337,573 - 15,353,676 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X15,247,499 - 15,263,581 (-)NCBINCBI36hg18NCBI36
CeleraX19,453,077 - 19,469,182 (-)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX13,096,081 - 13,112,522 (-)NCBIHuRef
CHM1_1X15,368,527 - 15,384,630 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(S)-nicotine  (ISO)
1,2-dichloroethene  (EXP)
1,3-Propane sultone  (ISO)
1,4-phenylenediamine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (EXP)
2,3,4,3',4'-Pentachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-acetamidofluorene  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
2-hydroxypropanoic acid  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4-nitroquinoline N-oxide  (ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
aldehydo-D-glucosamine  (ISO)
aldehydo-D-glucose  (ISO)
amiodarone  (EXP)
antirheumatic drug  (EXP)
Aroclor 1254  (ISO)
azathioprine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-D-glucosamine  (ISO)
bisphenol A  (ISO)
cadmium dichloride  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chlorambucil  (ISO)
choline  (ISO)
cisplatin  (EXP,ISO)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cyclophosphamide  (ISO)
cyclosporin A  (EXP)
D-glucose  (ISO)
dicrotophos  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (ISO)
etoposide  (EXP)
folic acid  (ISO)
glucose  (ISO)
gold atom  (EXP)
gold(0)  (EXP)
isoprenaline  (ISO)
L-methionine  (ISO)
melphalan  (ISO)
methyl methanesulfonate  (ISO)
morphine  (ISO)
N-acetyl-L-cysteine  (EXP)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-N-nitrosourea  (ISO)
nickel atom  (EXP)
nicotine  (ISO)
paracetamol  (EXP,ISO)
potassium chromate  (EXP)
propiconazole  (ISO)
pyrene  (ISO)
rac-lactic acid  (EXP)
sodium arsenite  (EXP)
sunitinib  (EXP)
tamoxifen  (ISO)
temozolomide  (ISO)
tetrachloromethane  (ISO)
Thiotepa  (ISO)
trans-1,2-dichloroethene  (EXP)
tributylstannane  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
urethane  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

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

Human Phenotype
Abdominal pain  (IAGP)
Abnormal bleeding  (IAGP)
Abnormal pons morphology  (IAGP)
Abnormal renal physiology  (IAGP)
Abnormality of skin morphology  (IAGP)
Abnormality of skin pigmentation  (IAGP)
Absent septum pellucidum  (IAGP)
Absent speech  (IAGP)
Acute myeloid leukemia  (IAGP)
Angina pectoris  (IAGP)
Anteverted nares  (IAGP)
Aplastic anemia  (IAGP)
Atrial septal defect  (IAGP)
Birth length greater than 97th percentile  (IAGP)
Bone marrow hypocellularity  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebral artery stenosis  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral visual impairment  (IAGP)
Cirrhosis  (IAGP)
Coarse facial features  (IAGP)
Death in infancy  (IAGP)
Delayed myelination  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental regression  (IAGP)
Downturned corners of mouth  (IAGP)
Duplicated collecting system  (IAGP)
Dysphagia  (IAGP)
Elevated alkaline phosphatase  (IAGP)
Elevated hepatic iron concentration  (IAGP)
Epileptic encephalopathy  (IAGP)
Fatigue  (IAGP)
Flexion contracture  (IAGP)
Generalized myoclonic seizure  (IAGP)
Gingival overgrowth  (IAGP)
Gliosis  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hemoglobinuria  (IAGP)
Hemolytic anemia  (IAGP)
Hepatomegaly  (IAGP)
High palate  (IAGP)
Hydrops fetalis  (IAGP)
Hypercoagulability  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplastic anemia  (IAGP)
Hypsarrhythmia  (IAGP)
Ichthyosis  (IAGP)
Infantile spasms  (IAGP)
Intellectual disability  (IAGP)
Large fontanelles  (IAGP)
Large for gestational age  (IAGP)
Lower limb spasticity  (IAGP)
Macrocephaly  (IAGP)
Malar flattening  (IAGP)
Microdontia  (IAGP)
Micrognathia  (IAGP)
Micropenis  (IAGP)
Muscle weakness  (IAGP)
Muscular hypotonia of the trunk  (IAGP)
Myelodysplasia  (IAGP)
Myocardial infarction  (IAGP)
Myoclonus  (IAGP)
Narrow mouth  (IAGP)
Neuronal loss in central nervous system  (IAGP)
Olfactory lobe agenesis  (IAGP)
Overfolded helix  (IAGP)
Overgrowth  (IAGP)
Pallor  (IAGP)
Paroxysmal nocturnal hemoglobinuria  (IAGP)
Polyhydramnios  (IAGP)
Prominent occiput  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Pulmonary embolism  (IAGP)
Schizophrenia  (IAGP)
Seborrheic dermatitis  (IAGP)
Secondary microcephaly  (IAGP)
Short neck  (IAGP)
Small nail  (IAGP)
Somatic mutation  (IAGP)
Spasticity  (IAGP)
Thromboembolism  (IAGP)
Transient ischemic attack  (IAGP)
Triangular mouth  (IAGP)
Upper limb spasticity  (IAGP)
Upslanted palpebral fissure  (IAGP)
Variable expressivity  (IAGP)
Vesicoureteral reflux  (IAGP)
Widely spaced teeth  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:7680492   PMID:8081230   PMID:8081362   PMID:8167330   PMID:8193350   PMID:8306954   PMID:8500164   PMID:8557259   PMID:8900170   PMID:9463366   PMID:10087994   PMID:10944123  
PMID:11102867   PMID:12037021   PMID:12130519   PMID:12411324   PMID:12477932   PMID:14702039   PMID:15489334   PMID:15625823   PMID:15687243   PMID:16162815   PMID:16344560   PMID:16923549  
PMID:17823237   PMID:19013003   PMID:19074066   PMID:19322201   PMID:19540188   PMID:19946888   PMID:20034593   PMID:20060400   PMID:20533382   PMID:21116280   PMID:21873635   PMID:22305531  
PMID:22315493   PMID:24259288   PMID:24357517   PMID:24706016   PMID:25885527   PMID:26186194   PMID:26545172   PMID:26923721   PMID:27931808   PMID:28441409   PMID:28514442   PMID:29427418  
PMID:29462428   PMID:29749402   PMID:29974678   PMID:29974931   PMID:31037862   PMID:32359022   PMID:32452540   PMID:32694024   PMID:33169419  


Genomics

Comparative Map Data
PIGA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX15,319,452 - 15,335,554 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX15,319,451 - 15,335,580 (-)EnsemblGRCh38hg38GRCh38
GRCh38X15,319,451 - 15,335,554 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X15,337,573 - 15,353,676 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X15,247,499 - 15,263,581 (-)NCBINCBI36hg18NCBI36
CeleraX19,453,077 - 19,469,182 (-)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX13,096,081 - 13,112,522 (-)NCBIHuRef
CHM1_1X15,368,527 - 15,384,630 (-)NCBICHM1_1
Piga
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X163,202,776 - 163,216,912 (+)NCBIGRCm39mm39
GRCm39 EnsemblX163,202,783 - 163,216,912 (+)Ensembl
GRCm38X164,419,780 - 164,433,916 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX164,419,787 - 164,433,916 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X160,857,719 - 160,871,847 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X159,763,921 - 159,778,021 (+)NCBImm8
CeleraX147,635,146 - 147,649,303 (+)NCBICelera
Cytogenetic MapXF5NCBI
cM MapX76.49NCBI
Piga
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X30,043,033 - 30,055,861 (-)NCBI
Rnor_6.0 EnsemblX31,786,194 - 31,799,560 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X31,786,823 - 31,799,751 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X32,160,574 - 32,173,353 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X50,797,413 - 50,812,217 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX30,389,874 - 30,399,559 (-)NCBICelera
Cytogenetic MapXq14NCBI
Piga
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555192,852,555 - 2,867,600 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555192,852,605 - 2,865,848 (+)NCBIChiLan1.0ChiLan1.0
PIGA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X15,228,881 - 15,244,949 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX15,228,881 - 15,244,949 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X7,946,158 - 7,962,320 (-)NCBIMhudiblu_PPA_v0panPan3
PIGA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X11,570,327 - 11,583,401 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX11,477,560 - 11,490,558 (-)NCBI
ROS_Cfam_1.0X11,532,405 - 11,545,403 (-)NCBI
UMICH_Zoey_3.1X11,595,315 - 11,608,309 (-)NCBI
UNSW_CanFamBas_1.0X11,586,669 - 11,599,667 (-)NCBI
UU_Cfam_GSD_1.0X11,614,747 - 11,627,744 (-)NCBI
Piga
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X4,730,960 - 4,747,006 (-)NCBI
SpeTri2.0NW_0049364704,730,955 - 4,746,958 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PIGA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX11,871,746 - 11,886,440 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X11,871,746 - 11,886,519 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X12,832,314 - 12,847,100 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PIGA
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X13,787,658 - 13,803,575 (-)NCBI
ChlSab1.1 EnsemblX13,787,646 - 13,803,405 (-)Ensembl
Piga
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624829128,161 - 143,378 (-)NCBI

Position Markers
GDB:604019  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X15,337,808 - 15,338,017UniSTSGRCh37
Build 36X15,247,729 - 15,247,938RGDNCBI36
CeleraX19,453,312 - 19,453,521RGD
Cytogenetic MapXp22.1UniSTS
HuRefX13,096,316 - 13,096,526UniSTS
GDB:604488  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X15,349,909 - 15,350,117UniSTSGRCh37
GRCh3712100,972,457 - 100,972,665UniSTSGRCh37
Build 36X15,259,830 - 15,260,038RGDNCBI36
CeleraX19,465,414 - 19,465,622RGD
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic MapXp22.1UniSTS
HuRefX13,108,509 - 13,108,717UniSTS
DXS1296  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X15,346,041 - 15,346,154UniSTSGRCh37
Build 36X15,255,962 - 15,256,075RGDNCBI36
CeleraX19,461,546 - 19,461,659RGD
Cytogenetic MapXp22.1UniSTS
HuRefX13,104,554 - 13,104,667UniSTS
GDB:604486  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X15,342,730 - 15,342,859UniSTSGRCh37
Build 36X15,252,651 - 15,252,780RGDNCBI36
CeleraX19,458,234 - 19,458,363RGD
Cytogenetic MapXp22.1UniSTS
HuRefX13,101,239 - 13,101,368UniSTS
SHGC-30072  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X15,337,586 - 15,337,713UniSTSGRCh37
Build 36X15,247,507 - 15,247,634RGDNCBI36
CeleraX19,453,090 - 19,453,217RGD
Cytogenetic MapXp22.1UniSTS
HuRefX13,096,094 - 13,096,221UniSTS
TNG Radiation Hybrid MapX4356.0UniSTS
PIGA__6990  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X15,337,459 - 15,338,276UniSTSGRCh37
Build 36X15,247,380 - 15,248,197RGDNCBI36
CeleraX19,452,963 - 19,453,780RGD
HuRefX13,095,967 - 13,096,785UniSTS
STS-D11466  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X15,337,753 - 15,337,915UniSTSGRCh37
Build 36X15,247,674 - 15,247,836RGDNCBI36
CeleraX19,453,257 - 19,453,419RGD
Cytogenetic MapXp22.1UniSTS
HuRefX13,096,261 - 13,096,424UniSTS
GeneMap99-GB4 RH MapX90.7UniSTS
NCBI RH MapX10.0UniSTS
WI-13794  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X15,345,793 - 15,345,897UniSTSGRCh37
Build 36X15,255,714 - 15,255,818RGDNCBI36
CeleraX19,461,298 - 19,461,402RGD
Cytogenetic MapXp22.1UniSTS
HuRefX13,104,306 - 13,104,410UniSTS
GeneMap99-GB4 RH MapX90.7UniSTS
Whitehead-RH MapX5.5UniSTS
NCBI RH MapX10.0UniSTS
PIGA  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X15,349,425 - 15,349,878UniSTSGRCh37
CeleraX19,464,930 - 19,465,383UniSTS
HuRefX13,108,025 - 13,108,478UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4949
Count of miRNA genes:972
Interacting mature miRNAs:1171
Transcripts:ENST00000333590, ENST00000428964, ENST00000463173, ENST00000474662, ENST00000475746, ENST00000482148, ENST00000542278
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


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 193 263 330 95 655 78 1006 55 211 154 314 905 28 190 354 3
Low 2246 2643 1396 529 1232 387 3349 2118 3522 264 1146 708 147 1 1014 2432 3 2
Below cutoff 85 63 2 24 1 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_033835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_033836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC095351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM998465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ026877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX870731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D11466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D28791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA951065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC347872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT976684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S61523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S74936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X77724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X77725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X77726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X77727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X77728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X77729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000333590   ⟹   ENSP00000369820
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,319,451 - 15,335,580 (-)Ensembl
RefSeq Acc Id: ENST00000463173
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,321,713 - 15,325,272 (-)Ensembl
RefSeq Acc Id: ENST00000474662
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,325,607 - 15,335,523 (-)Ensembl
RefSeq Acc Id: ENST00000475746   ⟹   ENSP00000488970
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,321,701 - 15,325,100 (-)Ensembl
RefSeq Acc Id: ENST00000482148   ⟹   ENSP00000489528
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,321,427 - 15,335,503 (-)Ensembl
RefSeq Acc Id: ENST00000542278   ⟹   ENSP00000442653
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,319,455 - 15,335,429 (-)Ensembl
RefSeq Acc Id: ENST00000634286   ⟹   ENSP00000489491
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,324,786 - 15,331,723 (-)Ensembl
RefSeq Acc Id: ENST00000634484
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,327,637 - 15,328,956 (-)Ensembl
RefSeq Acc Id: ENST00000634582   ⟹   ENSP00000489540
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,321,325 - 15,335,544 (-)Ensembl
RefSeq Acc Id: ENST00000634640   ⟹   ENSP00000489083
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,321,565 - 15,335,554 (-)Ensembl
RefSeq Acc Id: ENST00000635045
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,319,456 - 15,335,523 (-)Ensembl
RefSeq Acc Id: ENST00000635480
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,324,732 - 15,326,383 (-)Ensembl
RefSeq Acc Id: ENST00000635543   ⟹   ENSP00000489205
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,331,474 - 15,335,407 (-)Ensembl
RefSeq Acc Id: ENST00000635598   ⟹   ENSP00000489207
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,319,457 - 15,335,554 (-)Ensembl
RefSeq Acc Id: ENST00000635631
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,319,452 - 15,330,975 (-)Ensembl
RefSeq Acc Id: ENST00000637296   ⟹   ENSP00000490545
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,320,359 - 15,335,523 (-)Ensembl
RefSeq Acc Id: ENST00000637626   ⟹   ENSP00000489928
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,319,475 - 15,335,523 (-)Ensembl
RefSeq Acc Id: ENST00000637799
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,325,970 - 15,328,243 (-)Ensembl
RefSeq Acc Id: ENST00000638131   ⟹   ENSP00000490483
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,319,500 - 15,335,544 (-)Ensembl
RefSeq Acc Id: NM_002641   ⟹   NP_002632
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X15,319,456 - 15,335,523 (-)NCBI
GRCh37X15,337,573 - 15,353,676 (-)ENTREZGENE
Build 36X15,247,499 - 15,263,581 (-)NCBI Archive
HuRefX13,096,081 - 13,112,522 (-)ENTREZGENE
CHM1_1X15,368,527 - 15,384,630 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020473   ⟹   NP_065206
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X15,319,451 - 15,335,554 (-)NCBI
GRCh37X15,337,573 - 15,353,676 (-)ENTREZGENE
Build 36X15,247,499 - 15,263,581 (-)NCBI Archive
HuRefX13,096,081 - 13,112,522 (-)ENTREZGENE
CHM1_1X15,368,527 - 15,384,630 (-)NCBI
Sequence:
RefSeq Acc Id: NR_033835
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X15,319,451 - 15,335,554 (-)NCBI
GRCh37X15,337,573 - 15,353,676 (-)ENTREZGENE
HuRefX13,096,081 - 13,112,522 (-)ENTREZGENE
CHM1_1X15,368,527 - 15,384,630 (-)NCBI
Sequence:
RefSeq Acc Id: NR_033836
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X15,319,451 - 15,335,554 (-)NCBI
GRCh37X15,337,573 - 15,353,676 (-)ENTREZGENE
HuRefX13,096,081 - 13,112,522 (-)ENTREZGENE
CHM1_1X15,368,527 - 15,384,630 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545539   ⟹   XP_011543841
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X15,319,456 - 15,329,875 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_002632 (Get FASTA)   NCBI Sequence Viewer  
  NP_065206 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543841 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD13929 (Get FASTA)   NCBI Sequence Viewer  
  AAD14160 (Get FASTA)   NCBI Sequence Viewer  
  AAH38236 (Get FASTA)   NCBI Sequence Viewer  
  BAA02019 (Get FASTA)   NCBI Sequence Viewer  
  BAA05966 (Get FASTA)   NCBI Sequence Viewer  
  BAF83186 (Get FASTA)   NCBI Sequence Viewer  
  BAG37537 (Get FASTA)   NCBI Sequence Viewer  
  BAG53569 (Get FASTA)   NCBI Sequence Viewer  
  BAG64564 (Get FASTA)   NCBI Sequence Viewer  
  BAG65037 (Get FASTA)   NCBI Sequence Viewer  
  CAB57276 (Get FASTA)   NCBI Sequence Viewer  
  EAW98879 (Get FASTA)   NCBI Sequence Viewer  
  EAW98880 (Get FASTA)   NCBI Sequence Viewer  
  EAW98881 (Get FASTA)   NCBI Sequence Viewer  
  EAW98882 (Get FASTA)   NCBI Sequence Viewer  
  EAW98883 (Get FASTA)   NCBI Sequence Viewer  
  EAW98884 (Get FASTA)   NCBI Sequence Viewer  
  P37287 (Get FASTA)   NCBI Sequence Viewer  
  SOX90629 (Get FASTA)   NCBI Sequence Viewer  
  SOX90630 (Get FASTA)   NCBI Sequence Viewer  
  SOX90631 (Get FASTA)   NCBI Sequence Viewer  
  SOX90632 (Get FASTA)   NCBI Sequence Viewer  
  SOX90633 (Get FASTA)   NCBI Sequence Viewer  
  SOX90634 (Get FASTA)   NCBI Sequence Viewer  
  SOX90635 (Get FASTA)   NCBI Sequence Viewer  
  SOX90636 (Get FASTA)   NCBI Sequence Viewer  
  SOX90637 (Get FASTA)   NCBI Sequence Viewer  
  SOX90638 (Get FASTA)   NCBI Sequence Viewer  
  SOX90639 (Get FASTA)   NCBI Sequence Viewer  
  SOX90640 (Get FASTA)   NCBI Sequence Viewer  
  SOX90641 (Get FASTA)   NCBI Sequence Viewer  
  SOX90642 (Get FASTA)   NCBI Sequence Viewer  
  SOX90643 (Get FASTA)   NCBI Sequence Viewer  
  SOX90644 (Get FASTA)   NCBI Sequence Viewer  
  SOX90645 (Get FASTA)   NCBI Sequence Viewer  
  SOX90646 (Get FASTA)   NCBI Sequence Viewer  
  SOX90647 (Get FASTA)   NCBI Sequence Viewer  
  SOX90648 (Get FASTA)   NCBI Sequence Viewer  
  SOX90649 (Get FASTA)   NCBI Sequence Viewer  
  SOX90650 (Get FASTA)   NCBI Sequence Viewer  
  SOX90651 (Get FASTA)   NCBI Sequence Viewer  
  SOX90652 (Get FASTA)   NCBI Sequence Viewer  
  SOX90653 (Get FASTA)   NCBI Sequence Viewer  
  SOX90654 (Get FASTA)   NCBI Sequence Viewer  
  SOX90655 (Get FASTA)   NCBI Sequence Viewer  
  SOX90656 (Get FASTA)   NCBI Sequence Viewer  
  SOX90657 (Get FASTA)   NCBI Sequence Viewer  
  SOX90658 (Get FASTA)   NCBI Sequence Viewer  
  SOX90659 (Get FASTA)   NCBI Sequence Viewer  
  SOX90660 (Get FASTA)   NCBI Sequence Viewer  
  SOX90661 (Get FASTA)   NCBI Sequence Viewer  
  SOX90662 (Get FASTA)   NCBI Sequence Viewer  
  SOX90663 (Get FASTA)   NCBI Sequence Viewer  
  SOX90664 (Get FASTA)   NCBI Sequence Viewer  
  SOX90665 (Get FASTA)   NCBI Sequence Viewer  
  SOX90666 (Get FASTA)   NCBI Sequence Viewer  
  SOX90667 (Get FASTA)   NCBI Sequence Viewer  
  SOX90668 (Get FASTA)   NCBI Sequence Viewer  
  SOY26095 (Get FASTA)   NCBI Sequence Viewer  
  SOY26096 (Get FASTA)   NCBI Sequence Viewer  
  SOY26097 (Get FASTA)   NCBI Sequence Viewer  
  SOY26098 (Get FASTA)   NCBI Sequence Viewer  
  SOY26099 (Get FASTA)   NCBI Sequence Viewer  
  SOY26100 (Get FASTA)   NCBI Sequence Viewer  
  SOY26101 (Get FASTA)   NCBI Sequence Viewer  
  SOY26102 (Get FASTA)   NCBI Sequence Viewer  
  SOY26103 (Get FASTA)   NCBI Sequence Viewer  
  SOY26104 (Get FASTA)   NCBI Sequence Viewer  
  SOY26105 (Get FASTA)   NCBI Sequence Viewer  
  SOY26106 (Get FASTA)   NCBI Sequence Viewer  
  SOY26107 (Get FASTA)   NCBI Sequence Viewer  
  SOY26108 (Get FASTA)   NCBI Sequence Viewer  
  SOY26109 (Get FASTA)   NCBI Sequence Viewer  
  SOY26110 (Get FASTA)   NCBI Sequence Viewer  
  SOY26111 (Get FASTA)   NCBI Sequence Viewer  
  SOY26112 (Get FASTA)   NCBI Sequence Viewer  
  SOY26113 (Get FASTA)   NCBI Sequence Viewer  
  SOY26114 (Get FASTA)   NCBI Sequence Viewer  
  SOY26115 (Get FASTA)   NCBI Sequence Viewer  
  SOY26116 (Get FASTA)   NCBI Sequence Viewer  
  SOY26117 (Get FASTA)   NCBI Sequence Viewer  
  SOY26118 (Get FASTA)   NCBI Sequence Viewer  
  SOY26119 (Get FASTA)   NCBI Sequence Viewer  
  SOY26120 (Get FASTA)   NCBI Sequence Viewer  
  SOY26121 (Get FASTA)   NCBI Sequence Viewer  
  SOY26122 (Get FASTA)   NCBI Sequence Viewer  
  SOY26123 (Get FASTA)   NCBI Sequence Viewer  
  SOY26124 (Get FASTA)   NCBI Sequence Viewer  
  SOY26125 (Get FASTA)   NCBI Sequence Viewer  
  SOY26126 (Get FASTA)   NCBI Sequence Viewer  
  SOY26127 (Get FASTA)   NCBI Sequence Viewer  
  SOY26128 (Get FASTA)   NCBI Sequence Viewer  
  SOY26129 (Get FASTA)   NCBI Sequence Viewer  
  SOY26130 (Get FASTA)   NCBI Sequence Viewer  
  SOY26131 (Get FASTA)   NCBI Sequence Viewer  
  SOY26132 (Get FASTA)   NCBI Sequence Viewer  
  SOY26133 (Get FASTA)   NCBI Sequence Viewer  
  SOY26134 (Get FASTA)   NCBI Sequence Viewer  
  SOY26135 (Get FASTA)   NCBI Sequence Viewer  
  SOY26136 (Get FASTA)   NCBI Sequence Viewer  
  SOY26137 (Get FASTA)   NCBI Sequence Viewer  
  SOY26138 (Get FASTA)   NCBI Sequence Viewer  
  SOY26139 (Get FASTA)   NCBI Sequence Viewer  
  SOY26140 (Get FASTA)   NCBI Sequence Viewer  
  SOY26141 (Get FASTA)   NCBI Sequence Viewer  
  SOY26142 (Get FASTA)   NCBI Sequence Viewer  
  SOY26143 (Get FASTA)   NCBI Sequence Viewer  
  SOY26144 (Get FASTA)   NCBI Sequence Viewer  
  SOY26145 (Get FASTA)   NCBI Sequence Viewer  
  SOY26146 (Get FASTA)   NCBI Sequence Viewer  
  SOY26147 (Get FASTA)   NCBI Sequence Viewer  
  SOY26148 (Get FASTA)   NCBI Sequence Viewer  
  SOY26149 (Get FASTA)   NCBI Sequence Viewer  
  SOY26150 (Get FASTA)   NCBI Sequence Viewer  
  SOY26151 (Get FASTA)   NCBI Sequence Viewer  
  SOY26152 (Get FASTA)   NCBI Sequence Viewer  
  SOY26153 (Get FASTA)   NCBI Sequence Viewer  
  SOY26154 (Get FASTA)   NCBI Sequence Viewer  
  SOY26155 (Get FASTA)   NCBI Sequence Viewer  
  SOY26156 (Get FASTA)   NCBI Sequence Viewer  
  SOY26157 (Get FASTA)   NCBI Sequence Viewer  
  SOY26158 (Get FASTA)   NCBI Sequence Viewer  
  SOY26159 (Get FASTA)   NCBI Sequence Viewer  
  SOY26160 (Get FASTA)   NCBI Sequence Viewer  
  SOY26161 (Get FASTA)   NCBI Sequence Viewer  
  SOY26162 (Get FASTA)   NCBI Sequence Viewer  
  SOY26163 (Get FASTA)   NCBI Sequence Viewer  
  SOY26164 (Get FASTA)   NCBI Sequence Viewer  
  SOY26165 (Get FASTA)   NCBI Sequence Viewer  
  SOY26166 (Get FASTA)   NCBI Sequence Viewer  
  SOY26170 (Get FASTA)   NCBI Sequence Viewer  
  SOY26171 (Get FASTA)   NCBI Sequence Viewer  
  SOY26172 (Get FASTA)   NCBI Sequence Viewer  
  SOY26173 (Get FASTA)   NCBI Sequence Viewer  
  SOY26174 (Get FASTA)   NCBI Sequence Viewer  
  SOY26175 (Get FASTA)   NCBI Sequence Viewer  
  SOY26176 (Get FASTA)   NCBI Sequence Viewer  
  SOY26177 (Get FASTA)   NCBI Sequence Viewer  
  SOY26178 (Get FASTA)   NCBI Sequence Viewer  
  SOY26179 (Get FASTA)   NCBI Sequence Viewer  
  SOY26180 (Get FASTA)   NCBI Sequence Viewer  
  SOY26181 (Get FASTA)   NCBI Sequence Viewer  
  SOY26182 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_065206   ⟸   NM_020473
- Peptide Label: isoform 3
- UniProtKB: P37287 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_002632   ⟸   NM_002641
- Peptide Label: isoform 1
- UniProtKB: P37287 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011543841   ⟸   XM_011545539
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000489491   ⟸   ENST00000634286
RefSeq Acc Id: ENSP00000489083   ⟸   ENST00000634640
RefSeq Acc Id: ENSP00000489540   ⟸   ENST00000634582
RefSeq Acc Id: ENSP00000442653   ⟸   ENST00000542278
RefSeq Acc Id: ENSP00000489205   ⟸   ENST00000635543
RefSeq Acc Id: ENSP00000489207   ⟸   ENST00000635598
RefSeq Acc Id: ENSP00000369820   ⟸   ENST00000333590
RefSeq Acc Id: ENSP00000490545   ⟸   ENST00000637296
RefSeq Acc Id: ENSP00000489928   ⟸   ENST00000637626
RefSeq Acc Id: ENSP00000490483   ⟸   ENST00000638131
RefSeq Acc Id: ENSP00000489528   ⟸   ENST00000482148
RefSeq Acc Id: ENSP00000488970   ⟸   ENST00000475746
Protein Domains
Glycos_transf_1   PIGA

Promoters
RGD ID:6809127
Promoter ID:HG_KWN:66067
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:NM_002641,   NM_020473,   OTTHUMT00000055857,   UC010NEW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X15,263,361 - 15,263,861 (-)MPROMDB
RGD ID:13604788
Promoter ID:EPDNEW_H28578
Type:initiation region
Name:PIGA_1
Description:phosphatidylinositol glycan anchor biosynthesis class A
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
GRCh38X15,335,523 - 15,335,583EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002641.3(PIGA):c.525T>C (p.Leu175=) single nucleotide variant History of neurodevelopmental disorder [RCV000720681]|Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000542222]|not specified [RCV000611412] ChrX:15331406 [GRCh38]
ChrX:15349528 [GRCh37]
ChrX:Xp22.2
benign
NM_002641.3(PIGA):c.1198C>T (p.Arg400Trp) single nucleotide variant not provided [RCV000520216] ChrX:15321763 [GRCh38]
ChrX:15339885 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.3(PIGA):c.1234C>T (p.Arg412Ter) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000022881]|not provided [RCV001007979] ChrX:15321727 [GRCh38]
ChrX:15339849 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_002641.3(PIGA):c.1188+2del deletion Paroxysmal nocturnal hemoglobinuria 1 [RCV000010635] ChrX:15324663 [GRCh38]
ChrX:15342785 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_020473.3(PIGA):c.13+3864C>A single nucleotide variant Paroxysmal nocturnal hemoglobinuria 1 [RCV000010636] ChrX:15331637 [GRCh38]
ChrX:15349759 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_020473.3(PIGA):c.13+4029_13+4030insA insertion Paroxysmal nocturnal hemoglobinuria 1 [RCV000010637] ChrX:15331471..15331472 [GRCh38]
ChrX:15349593..15349594 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_002641.3(PIGA):c.1115del (p.Pro372fs) deletion Paroxysmal nocturnal hemoglobinuria 1 [RCV000010638] ChrX:15324738 [GRCh38]
ChrX:15342860 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_020473.3(PIGA):c.13+3733C>T single nucleotide variant Paroxysmal nocturnal hemoglobinuria 1 [RCV000010639] ChrX:15331768 [GRCh38]
ChrX:15349890 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_020473.3(PIGA):c.13+3819_13+3820insGT insertion Paroxysmal nocturnal hemoglobinuria 1 [RCV000010640] ChrX:15331681..15331682 [GRCh38]
ChrX:15349803..15349804 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_020473.3(PIGA):c.13+4001del deletion Paroxysmal nocturnal hemoglobinuria 1 [RCV000010641] ChrX:15331500 [GRCh38]
ChrX:15349622 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_002641.3(PIGA):c.1323_1324del (p.Leu442fs) deletion Paroxysmal nocturnal hemoglobinuria 1 [RCV000010642] ChrX:15321637..15321638 [GRCh38]
ChrX:15339759..15339760 [GRCh37]
ChrX:Xp22.2
pathogenic
PIGA, IVS5DS, G-A, +1, SOMATIC single nucleotide variant Paroxysmal nocturnal hemoglobinuria 1 [RCV000010643] ChrX:Xp22.1 pathogenic
NM_002641.3(PIGA):c.1355_1356insAATTGAGATGGATGACTCCAGATTCTATCATTGA (p.Asp452delinsGluIleGluMetAspAspSerArgPheTyrHisTer) insertion Paroxysmal nocturnal hemoglobinuria 1 [RCV000010644] ChrX:15321605..15321606 [GRCh38]
ChrX:15339727..15339728 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xp22.31-22.2(chrX:9038047-16646589)x2 copy number gain See cases [RCV000052362] ChrX:9038047..16646589 [GRCh38]
ChrX:9006088..16664712 [GRCh37]
ChrX:8966088..16574633 [NCBI36]
ChrX:Xp22.31-22.2
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-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.21(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 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11
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-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10679-21811030)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] ChrX:10679..21811030 [GRCh38]
ChrX:60679..21829148 [GRCh37]
ChrX:679..21739069 [NCBI36]
ChrX:Xp22.33-22.12
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 Xp22.33-11.22(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_002641.3(PIGA):c.355C>T (p.Arg119Trp) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000119283]|not provided [RCV000443275] ChrX:15331576 [GRCh38]
ChrX:15349698 [GRCh37]
ChrX:Xp22.2
pathogenic|likely pathogenic
NM_020473.3(PIGA):c.13+3644dup duplication Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000119284] ChrX:15331854..15331855 [GRCh38]
ChrX:15349976..15349977 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_020473.3(PIGA):c.13+3800G>T single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000119285] ChrX:15331701 [GRCh38]
ChrX:15349823 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_020473.3(PIGA):c.13+4186A>T single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000119286] ChrX:15331315 [GRCh38]
ChrX:15349437 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_002641.3(PIGA):c.1030_1032del (p.Leu344del) deletion Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000119287]|not provided [RCV000478249] ChrX:15324821..15324823 [GRCh38]
ChrX:15342943..15342945 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_020473.3(PIGA):c.13+3848C>T single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000119288] ChrX:15331653 [GRCh38]
ChrX:15349775 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_002641.4(PIGA):c.43G>C (p.Ala15Pro) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001302865] ChrX:15331888 [GRCh38]
ChrX:15350010 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.3(PIGA):c.98A>G (p.His33Arg) single nucleotide variant Inborn genetic diseases [RCV000190762] ChrX:15331833 [GRCh38]
ChrX:15349955 [GRCh37]
ChrX:Xp22.2
likely 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
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 Xp22.33-11.22(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:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(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
NM_002641.3(PIGA):c.79A>G (p.Thr27Ala) single nucleotide variant not specified [RCV000202879] ChrX:15331852 [GRCh38]
ChrX:15349974 [GRCh37]
ChrX:Xp22.2
likely benign
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 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX: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 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.2-22.11(chrX:15173626-23952585)x2 copy number gain See cases [RCV000134875] ChrX:15173626..23952585 [GRCh38]
ChrX:15191748..23970702 [GRCh37]
ChrX:15101669..23880623 [NCBI36]
ChrX:Xp22.2-22.11
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:2936461-17287323)x2 copy number gain See cases [RCV000135895] ChrX:2936461..17287323 [GRCh38]
ChrX:2854502..17305446 [GRCh37]
ChrX:2864502..17215367 [NCBI36]
ChrX:Xp22.33-22.2
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-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-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xp22.33-22.2(chrX:10679-16187419)x1 copy number loss See cases [RCV000137252] ChrX:10679..16187419 [GRCh38]
ChrX:60679..16205542 [GRCh37]
ChrX:679..16115463 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3 copy number gain See cases [RCV000137383] ChrX:10701..21866242 [GRCh38]
ChrX:60701..21884360 [GRCh37]
ChrX:701..21794281 [NCBI36]
ChrX:Xp22.33-22.12
uncertain significance
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 Xp22.33-11.23(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 Xp22.2-21.2(chrX:12254555-30410580)x1 copy number loss See cases [RCV000138069] ChrX:12254555..30410580 [GRCh38]
ChrX:12272674..30428697 [GRCh37]
ChrX:12182595..30338618 [NCBI36]
ChrX:Xp22.2-21.2
pathogenic|likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9239101-16721153)x1 copy number loss See cases [RCV000137753] ChrX:9239101..16721153 [GRCh38]
ChrX:9207141..16739276 [GRCh37]
ChrX:9167141..16649197 [NCBI36]
ChrX:Xp22.31-22.2
uncertain significance
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 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 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 Xp22.33-22.2(chrX:251879-16967290)x1 copy number loss See cases [RCV000142053] ChrX:251879..16967290 [GRCh38]
ChrX:168546..16985413 [GRCh37]
ChrX:108546..16895334 [NCBI36]
ChrX:Xp22.33-22.2
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-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 Xp22.33-11.21(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 Xp22.2-22.12(chrX:12856740-19380317)x2 copy number gain See cases [RCV000143774] ChrX:12856740..19380317 [GRCh38]
ChrX:12874859..19398435 [GRCh37]
ChrX:12784780..19308356 [NCBI36]
ChrX:Xp22.2-22.12
likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
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_002641.3(PIGA):c.1202T>A (p.Val401Glu) single nucleotide variant not provided [RCV000179409] ChrX:15321759 [GRCh38]
ChrX:15339881 [GRCh37]
ChrX:Xp22.2
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_002641.3(PIGA):c.232A>G (p.Lys78Glu) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000761571]|not specified [RCV000194679] ChrX:15331699 [GRCh38]
ChrX:15349821 [GRCh37]
ChrX:Xp22.2
likely benign|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
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-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_020473.3(PIGA):c.13+3637dup duplication not provided [RCV000224623] ChrX:15331862..15331863 [GRCh38]
ChrX:15349984..15349985 [GRCh37]
ChrX:Xp22.2
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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [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:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [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:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_002641.3(PIGA):c.307G>A (p.Ala103Thr) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000554054]|not provided [RCV000523605] ChrX:15331624 [GRCh38]
ChrX:15349746 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.3(PIGA):c.-75A>C single nucleotide variant not provided [RCV000585198] ChrX:15335513 [GRCh38]
ChrX:15353635 [GRCh37]
ChrX:Xp22.2
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_020473.3(PIGA):c.13+3818T>C single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000768039] ChrX:15331683 [GRCh38]
ChrX:15349805 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.3(PIGA):c.1048C>T (p.Pro350Ser) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000528864]|Paroxysmal nocturnal hemoglobinuria 1 [RCV000766085] ChrX:15324805 [GRCh38]
ChrX:15342927 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_020473.3(PIGA):c.13+3994G>A single nucleotide variant not provided [RCV000731506] ChrX:15331507 [GRCh38]
ChrX:15349629 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_002641.3(PIGA):c.62G>T (p.Ser21Ile) single nucleotide variant not provided [RCV000413773] ChrX:15331869 [GRCh38]
ChrX:15349991 [GRCh37]
ChrX:Xp22.2
uncertain significance
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 Xp22.33-11.3(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
NM_020473.3(PIGA):c.481G>A (p.Glu161Lys) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000449490] ChrX:15324670 [GRCh38]
ChrX:15342792 [GRCh37]
ChrX:Xp22.2
likely 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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_002641.3(PIGA):c.-63+13C>T single nucleotide variant not provided [RCV000514334]|not specified [RCV000444977] ChrX:15335488 [GRCh38]
ChrX:15353610 [GRCh37]
ChrX:Xp22.2
benign
NM_002641.3(PIGA):c.1214C>T (p.Ala405Val) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000541463]|not specified [RCV000445300] ChrX:15321747 [GRCh38]
ChrX:15339869 [GRCh37]
ChrX:Xp22.2
benign|likely benign
NM_002641.3(PIGA):c.198G>A (p.Lys66=) single nucleotide variant not provided [RCV000915894]|not specified [RCV000427977] ChrX:15331733 [GRCh38]
ChrX:15349855 [GRCh37]
ChrX:Xp22.2
benign|likely benign
NM_002641.3(PIGA):c.-63+18C>T single nucleotide variant not specified [RCV000428020] ChrX:15335483 [GRCh38]
ChrX:15353605 [GRCh37]
ChrX:Xp22.2
likely benign
NM_002641.3(PIGA):c.879G>A (p.Lys293=) single nucleotide variant not provided [RCV000921691]|not specified [RCV000435038] ChrX:15325122 [GRCh38]
ChrX:15343244 [GRCh37]
ChrX:Xp22.2
benign|likely benign
NM_020473.3(PIGA):c.13+3965C>G single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000445622] ChrX:15331536 [GRCh38]
ChrX:15349658 [GRCh37]
ChrX:Xp22.2
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_002641.3(PIGA):c.716-10A>G single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000649041]|not specified [RCV000435043] ChrX:15326056 [GRCh38]
ChrX:15344178 [GRCh37]
ChrX:Xp22.2
benign|likely benign
NM_002641.3(PIGA):c.55C>T (p.Arg19Trp) single nucleotide variant History of neurodevelopmental disorder [RCV000716220]|Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000554820]|not provided [RCV000712538]|not specified [RCV000428596] ChrX:15331876 [GRCh38]
ChrX:15349998 [GRCh37]
ChrX:Xp22.2
benign
NM_002641.3(PIGA):c.113T>C (p.Val38Ala) single nucleotide variant not provided [RCV000419126] ChrX:15331818 [GRCh38]
ChrX:15349940 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.3(PIGA):c.*7G>T single nucleotide variant not provided [RCV000992536]|not specified [RCV000435746] ChrX:15321499 [GRCh38]
ChrX:15339621 [GRCh37]
ChrX:Xp22.2
benign
NM_002641.3(PIGA):c.823C>T (p.Arg275Trp) single nucleotide variant History of neurodevelopmental disorder [RCV000720177]|not provided [RCV000429633] ChrX:15325939 [GRCh38]
ChrX:15344061 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.3(PIGA):c.-63+8C>T single nucleotide variant not specified [RCV000440209] ChrX:15335493 [GRCh38]
ChrX:15353615 [GRCh37]
ChrX:Xp22.2
likely benign
NM_002641.3(PIGA):c.293A>G (p.Tyr98Cys) single nucleotide variant not provided [RCV000437982] ChrX:15331638 [GRCh38]
ChrX:15349760 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_002641.3(PIGA):c.672T>C (p.Asp224=) single nucleotide variant not specified [RCV000437316] ChrX:15331259 [GRCh38]
ChrX:15349381 [GRCh37]
ChrX:Xp22.2
likely benign
NM_002641.3(PIGA):c.96C>G (p.Thr32=) single nucleotide variant not specified [RCV000444489] ChrX:15331835 [GRCh38]
ChrX:15349957 [GRCh37]
ChrX:Xp22.2
likely benign
NM_002641.3(PIGA):c.-91C>G single nucleotide variant not specified [RCV000420415] ChrX:15335529 [GRCh38]
ChrX:15353651 [GRCh37]
ChrX:Xp22.2
likely benign
NM_002641.3(PIGA):c.273C>T (p.Tyr91=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000649047]|not specified [RCV000430701] ChrX:15331658 [GRCh38]
ChrX:15349780 [GRCh37]
ChrX:Xp22.2
benign|likely benign
NM_002641.3(PIGA):c.-75A>G single nucleotide variant not provided [RCV000441914]|not specified [RCV000611053] ChrX:15335513 [GRCh38]
ChrX:15353635 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_002641.3(PIGA):c.616A>G (p.Ile206Val) single nucleotide variant History of neurodevelopmental disorder [RCV000720329]|not provided [RCV000484035] ChrX:15331315 [GRCh38]
ChrX:15349437 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.3(PIGA):c.613G>A (p.Val205Ile) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001346607]|not provided [RCV000480917] ChrX:15331318 [GRCh38]
ChrX:15349440 [GRCh37]
ChrX:Xp22.2
uncertain significance
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 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
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 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NM_002641.3(PIGA):c.368C>T (p.Thr123Met) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001341771]|Paroxysmal nocturnal hemoglobinuria 1 [RCV001249629]|not provided [RCV000497905] ChrX:15331563 [GRCh38]
ChrX:15349685 [GRCh37]
ChrX:Xp22.2
likely pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
NM_002641.3(PIGA):c.61A>G (p.Ser21Gly) single nucleotide variant History of neurodevelopmental disorder [RCV000718278]|Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000694821]|not provided [RCV000712539] ChrX:15331870 [GRCh38]
ChrX:15349992 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2
pathogenic
GRCh37/hg19 Xp22.2-21.2(chrX:15290524-29747172)x2 copy number gain See cases [RCV000511443] ChrX:15290524..29747172 [GRCh37]
ChrX:Xp22.2-21.2
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_002641.3(PIGA):c.56G>A (p.Arg19Gln) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000578232]|not provided [RCV001281615] ChrX:15331875 [GRCh38]
ChrX:15349997 [GRCh37]
ChrX:Xp22.2
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_002641.3(PIGA):c.1382G>A (p.Arg461Gln) single nucleotide variant Inborn genetic diseases [RCV000624780]|not provided [RCV000899480] ChrX:15321579 [GRCh38]
ChrX:15339701 [GRCh37]
ChrX:Xp22.2
benign|uncertain significance
NM_002641.3(PIGA):c.-63+17C>T single nucleotide variant not specified [RCV000609732] ChrX:15335484 [GRCh38]
ChrX:15353606 [GRCh37]
ChrX:Xp22.2
likely benign
NM_002641.3(PIGA):c.1420G>A (p.Gly474Arg) single nucleotide variant History of neurodevelopmental disorder [RCV000715944]|Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000649040]|not specified [RCV000610052] ChrX:15321541 [GRCh38]
ChrX:15339663 [GRCh37]
ChrX:Xp22.2
benign|likely benign
NM_002641.3(PIGA):c.-9del deletion not specified [RCV000610294] ChrX:15331939 [GRCh38]
ChrX:15350061 [GRCh37]
ChrX:Xp22.2
likely benign
NM_002641.3(PIGA):c.981+8G>A single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000649044]|not specified [RCV000606344] ChrX:15325012 [GRCh38]
ChrX:15343134 [GRCh37]
ChrX:Xp22.2
benign|likely benign
NM_002641.3(PIGA):c.348A>G (p.Ile116Met) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000530217] ChrX:15331583 [GRCh38]
ChrX:15349705 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.3(PIGA):c.877A>G (p.Lys293Glu) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000530991] ChrX:15325124 [GRCh38]
ChrX:15343246 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.2(chrX:14958567-15344086)x3 copy number gain See cases [RCV000512261] ChrX:14958567..15344086 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_002641.3(PIGA):c.716-14C>G single nucleotide variant not specified [RCV000605443] ChrX:15326060 [GRCh38]
ChrX:15344182 [GRCh37]
ChrX:Xp22.2
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
NM_002641.3(PIGA):c.1031T>C (p.Leu344Pro) single nucleotide variant not provided [RCV000512946] ChrX:15324822 [GRCh38]
ChrX:15342944 [GRCh37]
ChrX:Xp22.2
uncertain significance
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
NM_002641.3(PIGA):c.1369G>A (p.Ala457Thr) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000649036] ChrX:15321592 [GRCh38]
ChrX:15339714 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.3(PIGA):c.112G>A (p.Val38Ile) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000649037] ChrX:15331819 [GRCh38]
ChrX:15349941 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.3(PIGA):c.761A>G (p.Tyr254Cys) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000649038] ChrX:15326001 [GRCh38]
ChrX:15344123 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.3(PIGA):c.1447A>G (p.Thr483Ala) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000649039] ChrX:15321514 [GRCh38]
ChrX:15339636 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.3(PIGA):c.982-9del deletion Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000649042] ChrX:15324880 [GRCh38]
ChrX:15343002 [GRCh37]
ChrX:Xp22.2
likely benign
NM_002641.3(PIGA):c.1095A>G (p.Gln365=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000649043] ChrX:15324758 [GRCh38]
ChrX:15342880 [GRCh37]
ChrX:Xp22.2
likely benign
NM_002641.3(PIGA):c.982-4T>A single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000649045] ChrX:15324875 [GRCh38]
ChrX:15342997 [GRCh37]
ChrX:Xp22.2
likely benign
NM_002641.3(PIGA):c.1422G>A (p.Gly474=) single nucleotide variant not provided [RCV000649046] ChrX:15321539 [GRCh38]
ChrX:15339661 [GRCh37]
ChrX:Xp22.2
likely benign
NM_002641.3(PIGA):c.241C>T (p.Arg81Cys) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000680065] ChrX:15331690 [GRCh38]
ChrX:15349812 [GRCh37]
ChrX:Xp22.2
uncertain significance
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 Xp22.33-22.12(chrX:201704-20682168)x3 copy number gain not provided [RCV000684187] ChrX:201704..20682168 [GRCh37]
ChrX:Xp22.33-22.12
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 Xp22.33-22.2(chrX:168546-16404364)x1 copy number loss not provided [RCV000684181] ChrX:168546..16404364 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-18601364)x1 copy number loss not provided [RCV000684182] ChrX:168546..18601364 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1 copy number loss not provided [RCV000684183] ChrX:168546..23785738 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_002641.4(PIGA):c.178C>G (p.Leu60Val) single nucleotide variant Intellectual disability [RCV001252345] ChrX:15331753 [GRCh38]
ChrX:15349875 [GRCh37]
ChrX:Xp22.2
uncertain significance
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
NM_020473.3(PIGA):c.13+3662G>A single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000706488] ChrX:15331839 [GRCh38]
ChrX:15349961 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.3(PIGA):c.342G>T (p.Arg114Ser) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000692952] ChrX:15331589 [GRCh38]
ChrX:15349711 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.3(PIGA):c.854G>A (p.Arg285His) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000694082] ChrX:15325147 [GRCh38]
ChrX:15343269 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.3(PIGA):c.481G>T (p.Asp161Tyr) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000697028] ChrX:15331450 [GRCh38]
ChrX:15349572 [GRCh37]
ChrX:Xp22.2
uncertain significance
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
NM_002641.3(PIGA):c.873A>G (p.Glu291=) single nucleotide variant History of neurodevelopmental disorder [RCV000718332] ChrX:15325128 [GRCh38]
ChrX:15343250 [GRCh37]
ChrX:Xp22.2
likely benign
NM_002641.3(PIGA):c.955G>A (p.Val319Met) single nucleotide variant History of neurodevelopmental disorder [RCV000719493]|Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000990473] ChrX:15325046 [GRCh38]
ChrX:15343168 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.3(PIGA):c.1368T>C (p.Asp456=) single nucleotide variant History of neurodevelopmental disorder [RCV000718969] ChrX:15321593 [GRCh38]
ChrX:15339715 [GRCh37]
ChrX:Xp22.2
likely benign
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
NM_002641.3(PIGA):c.1188G>A (p.Lys396=) single nucleotide variant History of neurodevelopmental disorder [RCV000720336] ChrX:15324665 [GRCh38]
ChrX:15342787 [GRCh37]
ChrX:Xp22.2
likely benign
NM_002641.4(PIGA):c.356G>A (p.Arg119Gln) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001004672] ChrX:15331575 [GRCh38]
ChrX:15349697 [GRCh37]
ChrX:Xp22.2
likely pathogenic
GRCh37/hg19 Xp22.2(chrX:15290053-16071445)x3 copy number gain not provided [RCV000753391] ChrX:15290053..16071445 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.2(chrX:15256031-15472910)x2 copy number gain not provided [RCV000753390] ChrX:15256031..15472910 [GRCh37]
ChrX:Xp22.2
benign
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 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11
likely 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:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
NM_002641.3(PIGA):c.954C>T (p.Ile318=) single nucleotide variant not provided [RCV000979877] ChrX:15325047 [GRCh38]
ChrX:15343169 [GRCh37]
ChrX:Xp22.2
likely benign
NM_002641.3(PIGA):c.145G>A (p.Val49Met) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000761517] ChrX:15331786 [GRCh38]
ChrX:15349908 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.3(PIGA):c.1386_1393dup (p.Thr465fs) duplication Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000990471] ChrX:15321567..15321568 [GRCh38]
ChrX:15339689..15339690 [GRCh37]
ChrX:Xp22.2
likely pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_002641.4(PIGA):c.1354G>A (p.Asp452Asn) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001067235] ChrX:15321607 [GRCh38]
ChrX:15339729 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NC_000023.11:g.(?_15321486)_(15335533_?)dup duplication Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001031796] ChrX:15339608..15353655 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.3(PIGA):c.384T>C (p.His128=) single nucleotide variant not provided [RCV000927078] ChrX:15331547 [GRCh38]
ChrX:15349669 [GRCh37]
ChrX:Xp22.2
benign
NM_002641.3(PIGA):c.1338T>A (p.Thr446=) single nucleotide variant not provided [RCV000922001] ChrX:15321623 [GRCh38]
ChrX:15339745 [GRCh37]
ChrX:Xp22.2
likely benign
NM_002641.3(PIGA):c.120C>T (p.Asp40=) single nucleotide variant not provided [RCV000941831] ChrX:15331811 [GRCh38]
ChrX:15349933 [GRCh37]
ChrX:Xp22.2
benign
NM_002641.3(PIGA):c.312G>A (p.Thr104=) single nucleotide variant not provided [RCV000922708] ChrX:15331619 [GRCh38]
ChrX:15349741 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NM_002641.4(PIGA):c.676A>G (p.Ile226Val) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001056609] ChrX:15331255 [GRCh38]
ChrX:15349377 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392) copy number gain not provided [RCV000767802] ChrX:801301..23768392 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_002641.4(PIGA):c.1240G>C (p.Asp414His) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001061021] ChrX:15321721 [GRCh38]
ChrX:15339843 [GRCh37]
ChrX:Xp22.2
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_002641.3(PIGA):c.-63+140C>G single nucleotide variant not provided [RCV000826627] ChrX:15335361 [GRCh38]
ChrX:15353483 [GRCh37]
ChrX:Xp22.2
benign
NM_002641.3(PIGA):c.1234C>A (p.Arg412=) single nucleotide variant not provided [RCV000841338] ChrX:15321727 [GRCh38]
ChrX:15339849 [GRCh37]
ChrX:Xp22.2
likely benign
NM_002641.3(PIGA):c.250A>G (p.Thr84Ala) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000798103] ChrX:15331681 [GRCh38]
ChrX:15349803 [GRCh37]
ChrX:Xp22.2
benign|uncertain significance
NM_002641.3(PIGA):c.23G>A (p.Gly8Glu) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000813216] ChrX:15331908 [GRCh38]
ChrX:15350030 [GRCh37]
ChrX:Xp22.2
uncertain significance
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_002641.3(PIGA):c.715+5T>C single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000801682] ChrX:15331211 [GRCh38]
ChrX:15349333 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.3(PIGA):c.849-23T>C single nucleotide variant not provided [RCV000836932] ChrX:15325175 [GRCh38]
ChrX:15343297 [GRCh37]
ChrX:Xp22.2
benign
NM_002641.3(PIGA):c.1188+53C>T single nucleotide variant not provided [RCV000836933] ChrX:15324612 [GRCh38]
ChrX:15342734 [GRCh37]
ChrX:Xp22.2
benign
NM_002641.3(PIGA):c.193C>T (p.His65Tyr) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000812987] ChrX:15331738 [GRCh38]
ChrX:15349860 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_002641.3(PIGA):c.849-129_849-128dup duplication not provided [RCV000826629] ChrX:15325279..15325280 [GRCh38]
ChrX:15343401..15343402 [GRCh37]
ChrX:Xp22.2
benign
NM_020473.3(PIGA):c.13+3977A>G single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000822383] ChrX:15331524 [GRCh38]
ChrX:15349646 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.3(PIGA):c.-427G>C single nucleotide variant not provided [RCV000827776] ChrX:15335865 [GRCh38]
ChrX:15353987 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.2-22.11(chrX:15330714-21915234)x2 copy number gain not provided [RCV000846517] ChrX:15330714..21915234 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
NM_002641.3(PIGA):c.661A>G (p.Arg221Gly) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000812835] ChrX:15331270 [GRCh38]
ChrX:15349392 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849766] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849768] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
NM_002641.3(PIGA):c.1427A>G (p.Glu476Gly) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000809416] ChrX:15321534 [GRCh38]
ChrX:15339656 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.3(PIGA):c.908A>C (p.His303Pro) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000811393] ChrX:15325093 [GRCh38]
ChrX:15343215 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_020473.3(PIGA):c.13+4096T>G single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000811831] ChrX:15331405 [GRCh38]
ChrX:15349527 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_020473.3(PIGA):c.13+3800G>A single nucleotide variant not provided [RCV000999330] ChrX:15331701 [GRCh38]
ChrX:15349823 [GRCh37]
ChrX:Xp22.2
likely pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2 copy number gain not provided [RCV001007235] ChrX:1240318..20986848 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
NM_002641.3(PIGA):c.715+168C>A single nucleotide variant not provided [RCV000826628] ChrX:15331048 [GRCh38]
ChrX:15349170 [GRCh37]
ChrX:Xp22.2
benign
NM_002641.3(PIGA):c.1235G>A (p.Arg412Gln) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000990472] ChrX:15321726 [GRCh38]
ChrX:15339848 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.3(PIGA):c.1188+159C>T single nucleotide variant not provided [RCV000837083] ChrX:15324506 [GRCh38]
ChrX:15342628 [GRCh37]
ChrX:Xp22.2
benign
NM_002641.3(PIGA):c.1381C>T (p.Arg461Trp) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001063758]|not provided [RCV000841232] ChrX:15321580 [GRCh38]
ChrX:15339702 [GRCh37]
ChrX:Xp22.2
likely benign|uncertain significance
NM_002641.3(PIGA):c.1188+4T>C single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000821111] ChrX:15324661 [GRCh38]
ChrX:15342783 [GRCh37]
ChrX:Xp22.2
benign|uncertain significance
GRCh37/hg19 Xp22.2(chrX:14897121-15895646)x3 copy number gain not provided [RCV000846206] ChrX:14897121..15895646 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 copy number gain not provided [RCV000849574] ChrX:2190434..23795839 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.2(chrX:15334953-16221373)x2 copy number gain not provided [RCV000846122] ChrX:15334953..16221373 [GRCh37]
ChrX:Xp22.2
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 Xp22.2(chrX:15172188-16136635)x2 copy number gain not provided [RCV000848087] ChrX:15172188..16136635 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.4(PIGA):c.166C>G (p.Leu56Val) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001028012] ChrX:15331765 [GRCh38]
ChrX:15349887 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.4(PIGA):c.1159del (p.Trp387fs) deletion not provided [RCV001009173] ChrX:15324694 [GRCh38]
ChrX:15342816 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_020473.3(PIGA):c.13+3599G>A single nucleotide variant not provided [RCV000999331] ChrX:15331902 [GRCh38]
ChrX:15350024 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.4(PIGA):c.981+5A>G single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001202419] ChrX:15325015 [GRCh38]
ChrX:15343137 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.4(PIGA):c.1418G>C (p.Arg473Thr) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001248167] ChrX:15321543 [GRCh38]
ChrX:15339665 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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_002641.3(PIGA):c.1421G>T (p.Gly474Val) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000973987] ChrX:15321540 [GRCh38]
ChrX:15339662 [GRCh37]
ChrX:Xp22.2
benign
NM_002641.3(PIGA):c.247C>G (p.Leu83Val) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV000984472] ChrX:15331684 [GRCh38]
ChrX:15349806 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.3(PIGA):c.1346C>G (p.Ser449Cys) single nucleotide variant not provided [RCV000953113] ChrX:15321615 [GRCh38]
ChrX:15339737 [GRCh37]
ChrX:Xp22.2
likely benign
NM_002641.3(PIGA):c.300G>A (p.Gln100=) single nucleotide variant not provided [RCV000899752] ChrX:15331631 [GRCh38]
ChrX:15349753 [GRCh37]
ChrX:Xp22.2
likely benign
NM_002641.4(PIGA):c.238A>G (p.Ile80Val) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001227061] ChrX:15331693 [GRCh38]
ChrX:15349815 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.4(PIGA):c.91C>T (p.Arg31Cys) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001319054]|not provided [RCV001090787] ChrX:15331840 [GRCh38]
ChrX:15349962 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.3(PIGA):c.985G>T (p.Val329Leu) single nucleotide variant not provided [RCV000999329] ChrX:15324868 [GRCh38]
ChrX:15342990 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.4(PIGA):c.287T>C (p.Val96Ala) single nucleotide variant Intellectual disability [RCV001252346] ChrX:15331644 [GRCh38]
ChrX:15349766 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.33-22.13(chrX:168546-17502124)x1 copy number loss not provided [RCV001007200] ChrX:168546..17502124 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
NM_002641.4(PIGA):c.1177A>G (p.Arg393Gly) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001071233] ChrX:15324676 [GRCh38]
ChrX:15342798 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.2(chrX:15319722-16018163)x2 copy number gain not provided [RCV001007264] ChrX:15319722..16018163 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.4(PIGA):c.599C>T (p.Pro200Leu) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001214586] ChrX:15331332 [GRCh38]
ChrX:15349454 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.4(PIGA):c.1355A>T (p.Asp452Val) single nucleotide variant Paroxysmal nocturnal hemoglobinuria 1 [RCV001249628] ChrX:15321606 [GRCh38]
ChrX:15339728 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_002641.4(PIGA):c.783T>G (p.Ile261Met) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001042425] ChrX:15325979 [GRCh38]
ChrX:15344101 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.4(PIGA):c.144C>T (p.Gly48=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001233047] ChrX:15331787 [GRCh38]
ChrX:15349909 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.4(PIGA):c.565A>G (p.Lys189Glu) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001216760] ChrX:15331366 [GRCh38]
ChrX:15349488 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.4(PIGA):c.640G>C (p.Asp214His) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001233613] ChrX:15331291 [GRCh38]
ChrX:15349413 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.4(PIGA):c.19G>A (p.Ala7Thr) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001204330] ChrX:15331912 [GRCh38]
ChrX:15350034 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.4(PIGA):c.242G>A (p.Arg81His) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001055034] ChrX:15331689 [GRCh38]
ChrX:15349811 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.4(PIGA):c.300G>T (p.Gln100His) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001053870] ChrX:15331631 [GRCh38]
ChrX:15349753 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.4(PIGA):c.322C>A (p.His108Asn) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001204938] ChrX:15331609 [GRCh38]
ChrX:15349731 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.4(PIGA):c.1131_1139del (p.His378_Ile380del) deletion Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001216019] ChrX:15324714..15324722 [GRCh38]
ChrX:15342836..15342844 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.4(PIGA):c.1046A>G (p.Glu349Gly) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001034403] ChrX:15324807 [GRCh38]
ChrX:15342929 [GRCh37]
ChrX:Xp22.2
benign
NM_002641.4(PIGA):c.1184A>G (p.Glu395Gly) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001039494] ChrX:15324669 [GRCh38]
ChrX:15342791 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.4(PIGA):c.1261G>C (p.Gly421Arg) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001264801] ChrX:15321700 [GRCh38]
ChrX:15339822 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.2(chrX:10478359-15357092)x3 copy number gain not provided [RCV001259461] ChrX:10478359..15357092 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_002641.4(PIGA):c.790G>C (p.Glu264Gln) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001313854] ChrX:15325972 [GRCh38]
ChrX:15344094 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.4(PIGA):c.433A>G (p.Met145Val) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001313710] ChrX:15331498 [GRCh38]
ChrX:15349620 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.4(PIGA):c.1387G>A (p.Ala463Thr) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001313189] ChrX:15321574 [GRCh38]
ChrX:15339696 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.4(PIGA):c.716-9T>A single nucleotide variant Intellectual disability [RCV001257697] ChrX:15326055 [GRCh38]
ChrX:15344177 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_002641.4(PIGA):c.43G>A (p.Ala15Thr) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001342385] ChrX:15331888 [GRCh38]
ChrX:15350010 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.4(PIGA):c.986T>C (p.Val329Ala) single nucleotide variant Paroxysmal nocturnal hemoglobinuria 1 [RCV001335962] ChrX:15324867 [GRCh38]
ChrX:15342989 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_002641.4(PIGA):c.269A>G (p.Tyr90Cys) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001330947] ChrX:15331662 [GRCh38]
ChrX:15349784 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.4(PIGA):c.392T>A (p.Phe131Tyr) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001330948] ChrX:15331539 [GRCh38]
ChrX:15349661 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.4(PIGA):c.680C>G (p.Thr227Ser) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001298754] ChrX:15331251 [GRCh38]
ChrX:15349373 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.4(PIGA):c.1255C>T (p.His419Tyr) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001313328] ChrX:15321706 [GRCh38]
ChrX:15339828 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.4(PIGA):c.182T>C (p.Ile61Thr) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001338458] ChrX:15331749 [GRCh38]
ChrX:15349871 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.4(PIGA):c.1199G>A (p.Arg400Gln) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001297619] ChrX:15321762 [GRCh38]
ChrX:15339884 [GRCh37]
ChrX:Xp22.2
uncertain significance
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_002641.4(PIGA):c.1A>G (p.Met1Val) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001330748] ChrX:15331930 [GRCh38]
ChrX:15350052 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_002641.4(PIGA):c.538C>T (p.His180Tyr) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001323006] ChrX:15331393 [GRCh38]
ChrX:15349515 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.4(PIGA):c.26A>G (p.Asn9Ser) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001341191] ChrX:15331905 [GRCh38]
ChrX:15350027 [GRCh37]
ChrX:Xp22.2
uncertain significance
NC_000023.10:g.(?_15349318)_(15353655_?)dup duplication Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001319455] ChrX:15349318..15353655 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.4(PIGA):c.568G>A (p.Glu190Lys) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001317368] ChrX:15331363 [GRCh38]
ChrX:15349485 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.4(PIGA):c.281T>C (p.Leu94Pro) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001325239] ChrX:15331650 [GRCh38]
ChrX:15349772 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.4(PIGA):c.35G>A (p.Arg12His) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001337677] ChrX:15331896 [GRCh38]
ChrX:15350018 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.4(PIGA):c.981+4A>G single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001270775] ChrX:15325016 [GRCh38]
ChrX:15343138 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_002641.4(PIGA):c.215A>G (p.His72Arg) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV001340682] ChrX:15331716 [GRCh38]
ChrX:15349838 [GRCh37]
ChrX:Xp22.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8957 AgrOrtholog
COSMIC PIGA COSMIC
Ensembl Genes ENSG00000165195 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000369820 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000442653 UniProtKB/Swiss-Prot
  ENSP00000488970 UniProtKB/TrEMBL
  ENSP00000489083 UniProtKB/TrEMBL
  ENSP00000489205 UniProtKB/TrEMBL
  ENSP00000489207 UniProtKB/TrEMBL
  ENSP00000489491 UniProtKB/TrEMBL
  ENSP00000489528 UniProtKB/Swiss-Prot
  ENSP00000489540 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000489928 UniProtKB/TrEMBL
  ENSP00000490483 UniProtKB/TrEMBL
  ENSP00000490545 UniProtKB/TrEMBL
Ensembl Transcript ENST00000333590 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000475746 UniProtKB/TrEMBL
  ENST00000482148 UniProtKB/Swiss-Prot
  ENST00000542278 UniProtKB/Swiss-Prot
  ENST00000634286 UniProtKB/TrEMBL
  ENST00000634582 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000634640 UniProtKB/TrEMBL
  ENST00000635543 UniProtKB/TrEMBL
  ENST00000635598 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000637296 UniProtKB/TrEMBL
  ENST00000637626 UniProtKB/TrEMBL
  ENST00000638131 ENTREZGENE, UniProtKB/TrEMBL
GTEx ENSG00000165195 GTEx
HGNC ID HGNC:8957 ENTREZGENE
Human Proteome Map PIGA Human Proteome Map
InterPro Glyco_trans_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PIG-A/GPI3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PIGA_GPI_anchor_biosynthesis UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5277 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5277 ENTREZGENE
OMIM 300818 OMIM
  300868 OMIM
  311770 OMIM
Pfam Glycos_transf_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PIGA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33288 PharmGKB
UniProt A0A0U1RQF5_HUMAN UniProtKB/TrEMBL
  A0A0U1RQM9_HUMAN UniProtKB/TrEMBL
  A0A0U1RQW8_HUMAN UniProtKB/TrEMBL
  A0A0U1RRE8_HUMAN UniProtKB/TrEMBL
  A0A1B0GU19_HUMAN UniProtKB/TrEMBL
  A0A1B0GVE5_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9P3_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9P4_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9P5_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9P6_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9P8_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9P9_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9Q2_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9Q7_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9Q9_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9R1_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9R6_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9R8_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9S0_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9S5_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9S8_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9T0_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9T1_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9T4_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9T5_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9T7_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9T8_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9U0_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9U2_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9U3_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9U4_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9U6_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9U9_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9V3_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9V4_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9V5_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9V6_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9V8_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9V9_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9W0_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9W1_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9W2_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9W3_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9W5_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9W7_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9W8_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9X1_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9X3_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9X4_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9X5_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9X6_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9X7_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9X8_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9X9_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9Y1_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9Y2_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9Y3_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9Y4_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9Y7_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9Y8_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9Y9_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9Z0_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9Z2_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9Z5_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9Z6_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9Z7_HUMAN UniProtKB/TrEMBL
  A0A2K4Z9Z9_HUMAN UniProtKB/TrEMBL
  A0A2K4ZA01_HUMAN UniProtKB/TrEMBL
  A0A2K4ZA02_HUMAN UniProtKB/TrEMBL
  A0A2K4ZA03_HUMAN UniProtKB/TrEMBL
  A0A2K4ZA04_HUMAN UniProtKB/TrEMBL
  A0A2K4ZA05_HUMAN UniProtKB/TrEMBL
  A0A2K4ZA06_HUMAN UniProtKB/TrEMBL
  A0A2K4ZA07_HUMAN UniProtKB/TrEMBL
  A0A2K4ZA10_HUMAN UniProtKB/TrEMBL
  A0A2K4ZA29_HUMAN UniProtKB/TrEMBL
  A8K382_HUMAN UniProtKB/TrEMBL
  B3KUV7_HUMAN UniProtKB/TrEMBL
  P37287 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B4E0V2 UniProtKB/Swiss-Prot
  Q16025 UniProtKB/Swiss-Prot
  Q16250 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-10 PIGA  phosphatidylinositol glycan anchor biosynthesis class A    phosphatidylinositol glycan anchor biosynthesis, class A  Symbol and/or name change 5135510 APPROVED