PIGT (phosphatidylinositol glycan anchor biosynthesis class T) - Rat Genome Database

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Gene: PIGT (phosphatidylinositol glycan anchor biosynthesis class T) Homo sapiens
Analyze
Symbol: PIGT
Name: phosphatidylinositol glycan anchor biosynthesis class T
RGD ID: 1316180
HGNC Page HGNC:14938
Description: Predicted to be involved in attachment of GPI anchor to protein. Predicted to act upstream of or within neuron apoptotic process and neuron differentiation. Located in membrane. Part of GPI-anchor transamidase complex. Implicated in multiple congenital anomalies-hypotonia-seizures syndrome 3 and paroxysmal nocturnal hemoglobinuria.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CGI-06; FLJ41596; GPI transamidase component PIG-T; GPI transamidase subunit; MCAHS3; MGC8909; NDAP; neurotrophin-regulated neuronal development-associated protein; phosphatidyl inositol glycan class T; phosphatidylinositol glycan anchor biosynthesis, class T; phosphatidylinositol-glycan biosynthesis class T protein; PIG-T; PNH2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382045,416,141 - 45,426,241 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2045,416,084 - 45,456,934 (+)EnsemblGRCh38hg38GRCh38
GRCh372044,044,781 - 44,054,881 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362043,478,138 - 43,488,298 (+)NCBINCBI36Build 36hg18NCBI36
Build 342043,478,191 - 43,488,295NCBI
Celera2040,753,217 - 40,763,395 (+)NCBICelera
Cytogenetic Map20q13.12NCBI
HuRef2040,786,200 - 40,796,368 (+)NCBIHuRef
CHM1_12043,947,245 - 43,957,423 (+)NCBICHM1_1
T2T-CHM13v2.02047,152,004 - 47,162,091 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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 eye physiology  (IAGP)
Abnormal gastrointestinal tract morphology  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal lung lobation  (IAGP)
Abnormal skeletal morphology  (IAGP)
Abnormality of eye movement  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the urinary system  (IAGP)
Ankle clonus  (IAGP)
Anteverted nares  (IAGP)
Arthralgia  (IAGP)
Astigmatism  (IAGP)
Ataxia  (IAGP)
Atrial septal defect  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Brachycephaly  (IAGP)
Central sleep apnea  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral visual impairment  (IAGP)
Congenital megaureter  (IAGP)
Congenital onset  (IAGP)
Craniosynostosis  (IAGP)
Decreased circulating IgA level  (IAGP)
Decreased circulating total IgM  (IAGP)
Deep philtrum  (IAGP)
Delayed skeletal maturation  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental regression  (IAGP)
Diarrhea  (IAGP)
Downgaze palsy  (IAGP)
Downturned corners of mouth  (IAGP)
Dyspnea  (IAGP)
EEG with generalized sharp slow waves  (IAGP)
EEG with spike-wave complexes  (IAGP)
Esotropia  (IAGP)
Exaggerated cupid's bow  (IAGP)
Fatigue  (IAGP)
Focal-onset seizure  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hypotonia  (IAGP)
Generalized myoclonic seizure  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Generalized tonic seizure  (IAGP)
Global brain atrophy  (IAGP)
Global developmental delay  (IAGP)
Headache  (IAGP)
Hearing impairment  (IAGP)
Hemolytic anemia  (IAGP)
High forehead  (IAGP)
High myopia  (IAGP)
High palate  (IAGP)
High, narrow palate  (IAGP)
Hydroureter  (IAGP)
Hypercalcemia  (IAGP)
Hypercalciuria  (IAGP)
Hypermetropia  (IAGP)
Hypertriglyceridemia  (IAGP)
Hypoparathyroidism  (IAGP)
Hypoplasia of the ulna  (IAGP)
Hypotonia  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, severe  (IAGP)
Inverted nipples  (IAGP)
Jerky head movements  (IAGP)
Joint hypermobility  (IAGP)
Lambdoidal craniosynostosis  (IAGP)
Large for gestational age  (IAGP)
Long philtrum  (IAGP)
Low alkaline phosphatase  (IAGP)
Low-set ears  (IAGP)
Macrocephaly  (IAGP)
Malar flattening  (IAGP)
Metopic synostosis  (IAGP)
Micrognathia  (IAGP)
Middle age onset  (IAGP)
Multifocal epileptiform discharges  (IAGP)
Myoclonic seizure  (IAGP)
Myopia  (IAGP)
Narrow forehead  (IAGP)
Nasogastric tube feeding in infancy  (IAGP)
Nephrocalcinosis  (IAGP)
Neurodevelopmental delay  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Obstructive sleep apnea  (IAGP)
Open mouth  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Paroxysmal nocturnal hemoglobinuria  (IAGP)
Patent ductus arteriosus  (IAGP)
Pectus excavatum  (IAGP)
Posterior staphyloma  (IAGP)
Precocious puberty  (IAGP)
Premature loss of teeth  (IAGP)
Renal cyst  (IAGP)
Renal dysplasia  (IAGP)
Restrictive cardiomyopathy  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short nose  (IAGP)
Slender long bone  (IAGP)
Strabismus  (IAGP)
Tented upper lip vermilion  (IAGP)
Typified by somatic mosaicism  (IAGP)
Upper limb undergrowth  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ureteral stenosis  (IAGP)
Visual impairment  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1846368   PMID:8125298   PMID:10810093   PMID:11483512   PMID:11483580   PMID:11549316   PMID:11780052   PMID:12052837   PMID:12477932   PMID:12582175   PMID:12655644   PMID:12975309  
PMID:15489334   PMID:15713669   PMID:16169070   PMID:16303743   PMID:16344560   PMID:16516892   PMID:19946888   PMID:21873635   PMID:22810586   PMID:22939629   PMID:23636107   PMID:23733340  
PMID:24906948   PMID:25921289   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26638075   PMID:27173435   PMID:27342126   PMID:27432908   PMID:28327575   PMID:28380382   PMID:28514442  
PMID:28728837   PMID:29117863   PMID:29180619   PMID:29229926   PMID:29507755   PMID:30833792   PMID:31056421   PMID:31091453   PMID:31182584   PMID:31527615   PMID:31617661   PMID:31871319  
PMID:31995728   PMID:32149426   PMID:32409323   PMID:32628020   PMID:32707033   PMID:32725661   PMID:32807901   PMID:33060197   PMID:33545068   PMID:33620284   PMID:33845483   PMID:33961781  
PMID:34079125   PMID:34186245   PMID:34226595   PMID:34432599   PMID:35241646   PMID:35256949   PMID:35271311   PMID:35509820   PMID:35696571   PMID:36215168   PMID:37827155  


Genomics

Comparative Map Data
PIGT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382045,416,141 - 45,426,241 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2045,416,084 - 45,456,934 (+)EnsemblGRCh38hg38GRCh38
GRCh372044,044,781 - 44,054,881 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362043,478,138 - 43,488,298 (+)NCBINCBI36Build 36hg18NCBI36
Build 342043,478,191 - 43,488,295NCBI
Celera2040,753,217 - 40,763,395 (+)NCBICelera
Cytogenetic Map20q13.12NCBI
HuRef2040,786,200 - 40,796,368 (+)NCBIHuRef
CHM1_12043,947,245 - 43,957,423 (+)NCBICHM1_1
T2T-CHM13v2.02047,152,004 - 47,162,091 (+)NCBIT2T-CHM13v2.0
Pigt
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392164,339,461 - 164,350,221 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2164,339,440 - 164,350,221 (+)EnsemblGRCm39 Ensembl
GRCm382164,497,090 - 164,508,301 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2164,497,520 - 164,508,301 (+)EnsemblGRCm38mm10GRCm38
MGSCv372164,323,025 - 164,333,801 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362164,188,770 - 164,198,971 (+)NCBIMGSCv36mm8
Celera2170,434,562 - 170,445,144 (+)NCBICelera
Cytogenetic Map2H3NCBI
cM Map285.17NCBI
Pigt
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83173,647,104 - 173,656,269 (+)NCBIGRCr8
mRatBN7.23153,227,749 - 153,236,922 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3153,227,420 - 153,236,887 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3157,037,716 - 157,046,909 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03165,536,673 - 165,545,866 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03163,280,316 - 163,289,509 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03160,945,556 - 160,954,738 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3160,945,359 - 160,954,739 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03167,125,843 - 167,135,024 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43155,519,010 - 155,528,168 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13155,425,065 - 155,434,205 (+)NCBI
Celera3151,839,073 - 151,848,231 (+)NCBICelera
Cytogenetic Map3q42NCBI
Pigt
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544511,915,225 - 11,925,820 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544511,916,898 - 11,925,578 (-)NCBIChiLan1.0ChiLan1.0
PIGT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22151,149,094 - 51,161,615 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12051,142,202 - 51,154,723 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02041,749,034 - 41,759,131 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12042,838,789 - 42,848,911 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2042,838,789 - 42,870,907 (+)Ensemblpanpan1.1panPan2
PIGT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12432,706,476 - 32,715,169 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2432,706,028 - 32,715,168 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2432,351,378 - 32,360,087 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02433,416,860 - 33,425,570 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2433,416,013 - 33,452,701 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12432,678,027 - 32,686,710 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02432,793,634 - 32,802,348 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02433,337,907 - 33,346,620 (+)NCBIUU_Cfam_GSD_1.0
Pigt
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640192,017,491 - 192,027,500 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365147,470,922 - 7,481,199 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365147,471,134 - 7,481,183 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PIGT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1747,735,088 - 47,750,195 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11747,735,339 - 47,750,052 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21753,432,162 - 53,446,882 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PIGT
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1218,408,789 - 18,419,186 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl218,408,758 - 18,419,103 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605067,050,443 - 67,060,921 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pigt
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247909,075,773 - 9,084,959 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247909,075,733 - 9,084,961 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PIGT
267 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_015937.6(PIGT):c.1342C>T (p.Arg448Trp) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV000132728]|not provided [RCV001531960] Chr20:45424323 [GRCh38]
Chr20:44052963 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic
NM_015937.6(PIGT):c.918_919insT (p.Val307fs) insertion Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV000132729] Chr20:45420578..45420579 [GRCh38]
Chr20:44049218..44049219 [GRCh37]
Chr20:20q13.12		 pathogenic
NM_015937.6(PIGT):c.1079G>T (p.Gly360Val) single nucleotide variant Global developmental delay [RCV001003629]|Inborn genetic diseases [RCV001267466]|Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV000710290]|Neurodevelopmental delay [RCV002274054]|not provided [RCV000519250] Chr20:45421428 [GRCh38]
Chr20:44050068 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 copy number gain See cases [RCV000053035] Chr20:44787704..64277321 [GRCh38]
Chr20:43416345..62908674 [GRCh37]
Chr20:42849759..62379118 [NCBI36]
Chr20:20q13.12-13.33		 pathogenic
NM_015937.6(PIGT):c.547A>C (p.Thr183Pro) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV000054819] Chr20:45419348 [GRCh38]
Chr20:44047988 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic
NM_015937.6(PIGT):c.1401-2A>G single nucleotide variant Paroxysmal nocturnal hemoglobinuria 2 [RCV000054820] Chr20:45424494 [GRCh38]
Chr20:44053134 [GRCh37]
Chr20:20q13.12		 risk factor
NM_015937.6(PIGT):c.602T>C (p.Leu201Pro) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV000662206]|Paroxysmal nocturnal hemoglobinuria 1 [RCV000662205] Chr20:45419511 [GRCh38]
Chr20:44048151 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.197del (p.Tyr66fs) deletion Paroxysmal nocturnal hemoglobinuria 2 [RCV000663337] Chr20:45416526 [GRCh38]
Chr20:44045166 [GRCh37]
Chr20:20q13.12		 risk factor
NM_015937.6(PIGT):c.949A>G (p.Ile317Val) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV000660484]|Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002530572] Chr20:45420609 [GRCh38]
Chr20:44049249 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.550G>A (p.Glu184Lys) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV000659252] Chr20:45419351 [GRCh38]
Chr20:44047991 [GRCh37]
Chr20:20q13.12		 likely pathogenic|conflicting interpretations of pathogenicity
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
NM_015937.6(PIGT):c.770A>C (p.Asp257Ala) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001521551]|not provided [RCV001589088]|not specified [RCV000202978] Chr20:45420332 [GRCh38]
Chr20:44048972 [GRCh37]
Chr20:20q13.12		 benign|likely benign
GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1 copy number loss See cases [RCV000140816] Chr20:35237946..47631818 [GRCh38]
Chr20:33825749..46260562 [GRCh37]
Chr20:33289165..45693969 [NCBI36]
Chr20:20q11.22-13.12		 pathogenic
GRCh37/hg19 20q13.12(chr20:43955980-44053178)x3 copy number gain Breast ductal adenocarcinoma [RCV000207186] Chr20:43955980..44053178 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.250G>T (p.Glu84Ter) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV000210929]|not provided [RCV001782700] Chr20:45416579 [GRCh38]
Chr20:44045219 [GRCh37]
Chr20:20q13.12		 pathogenic
PIGT, ARG488TRP variation Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV000210927] Chr20:20q13.12 pathogenic
NM_015937.6(PIGT):c.1067G>A (p.Arg356Gln) single nucleotide variant Inborn genetic diseases [RCV002519862]|Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV000651693]|PIGT-related condition [RCV003955396]|not provided [RCV001797072]|not specified [RCV000238960] Chr20:45421416 [GRCh38]
Chr20:44050056 [GRCh37]
Chr20:20q13.12		 likely benign|uncertain significance
NM_015937.6(PIGT):c.367G>T (p.Val123Leu) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV000990304]|not provided [RCV000442187]|not specified [RCV000239263] Chr20:45418853 [GRCh38]
Chr20:44047493 [GRCh37]
Chr20:20q13.12		 benign|likely benign
NM_015937.6(PIGT):c.608_609del (p.Val203fs) microsatellite Inborn genetic diseases [RCV001267465]|not provided [RCV000521170] Chr20:45419515..45419516 [GRCh38]
Chr20:44048155..44048156 [GRCh37]
Chr20:20q13.12		 pathogenic
NM_015937.6(PIGT):c.918dup (p.Val307fs) duplication Inborn genetic diseases [RCV001267220]|Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV000760144]|PIGT-related disorder [RCV000709985]|not provided [RCV000598675] Chr20:45420577..45420578 [GRCh38]
Chr20:44049217..44049218 [GRCh37]
Chr20:20q13.12		 pathogenic|not provided
NM_015937.6(PIGT):c.988C>T (p.Arg330Ter) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001723971]|PIGT-related disorder [RCV000509187]|not provided [RCV000414606] Chr20:45420648 [GRCh38]
Chr20:44049288 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic|not provided
NM_015937.6(PIGT):c.209C>T (p.Pro70Leu) single nucleotide variant not provided [RCV000722734] Chr20:45416538 [GRCh38]
Chr20:44045178 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.533G>A (p.Arg178Gln) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV000539341]|not provided [RCV001637081] Chr20:45419334 [GRCh38]
Chr20:44047974 [GRCh37]
Chr20:20q13.12		 benign
NM_015937.6(PIGT):c.806C>T (p.Thr269Met) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV000700518]|not provided [RCV000440925] Chr20:45420368 [GRCh38]
Chr20:44049008 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.188-2A>G single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001770371]|not provided [RCV000481407] Chr20:45416515 [GRCh38]
Chr20:44045155 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic
NM_015937.6(PIGT):c.634C>T (p.His212Tyr) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV000477894]|Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV000885273]|not provided [RCV003129867] Chr20:45419543 [GRCh38]
Chr20:44048183 [GRCh37]
Chr20:20q13.12		 likely benign|uncertain significance
NM_015937.6(PIGT):c.1582G>A (p.Val528Met) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV000990305]|PIGT-related disorder [RCV000509376]|not provided [RCV000657935] Chr20:45425671 [GRCh38]
Chr20:44054311 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic|not provided
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_015937.6(PIGT):c.411C>G (p.Ile137Met) single nucleotide variant not provided [RCV003313572] Chr20:45418897 [GRCh38]
Chr20:44047537 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.41T>G (p.Leu14Arg) single nucleotide variant not provided [RCV003318312] Chr20:45416197 [GRCh38]
Chr20:44044837 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.494-5C>T single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV000651692]|not provided [RCV002263905] Chr20:45419290 [GRCh38]
Chr20:44047930 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1620T>C (p.Tyr540=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001513233]|Paroxysmal nocturnal hemoglobinuria 2 [RCV001788297]|not specified [RCV000616112] Chr20:45425709 [GRCh38]
Chr20:44054349 [GRCh37]
Chr20:20q13.12		 benign
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_015937.6(PIGT):c.57del (p.Trp20fs) deletion Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV000698475] Chr20:45416213 [GRCh38]
Chr20:44044853 [GRCh37]
Chr20:20q13.12		 pathogenic
NM_015937.6(PIGT):c.22G>T (p.Ala8Ser) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV000703946]|not provided [RCV000997777] Chr20:45416178 [GRCh38]
Chr20:44044818 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.494-2A>G single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV000707576]|not provided [RCV001092541] Chr20:45419293 [GRCh38]
Chr20:44047933 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic
NM_015937.6(PIGT):c.514C>T (p.Arg172Cys) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV000698476]|not provided [RCV001726308] Chr20:45419315 [GRCh38]
Chr20:44047955 [GRCh37]
Chr20:20q13.12		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_015937.6(PIGT):c.767_770del (p.Lys256fs) microsatellite Paroxysmal nocturnal hemoglobinuria 2 [RCV000735856] Chr20:45420215..45420218 [GRCh38]
Chr20:44048855..44048858 [GRCh37]
Chr20:20q13.12		 risk factor
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_015937.6(PIGT):c.1096G>T (p.Gly366Trp) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV000760145]|not provided [RCV002249459] Chr20:45421445 [GRCh38]
Chr20:44050085 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic
NM_015937.6(PIGT):c.1730del (p.Pro577fs) deletion Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003457224] Chr20:45425814 [GRCh38]
Chr20:44054454 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1235-8G>A single nucleotide variant not provided [RCV000920927] Chr20:45424208 [GRCh38]
Chr20:44052848 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.957C>T (p.Asp319=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002540207] Chr20:45420617 [GRCh38]
Chr20:44049257 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1061C>T (p.Ala354Val) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV000968775]|not provided [RCV001702758] Chr20:45421410 [GRCh38]
Chr20:44050050 [GRCh37]
Chr20:20q13.12		 benign|likely benign
NM_015937.6(PIGT):c.969C>T (p.Thr323=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV000966329]|Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002489386]|not provided [RCV001731996] Chr20:45420629 [GRCh38]
Chr20:44049269 [GRCh37]
Chr20:20q13.12		 benign|likely benign
NM_015937.6(PIGT):c.753G>A (p.Thr251=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV000924360]|not provided [RCV001507464] Chr20:45420207 [GRCh38]
Chr20:44048847 [GRCh37]
Chr20:20q13.12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015937.6(PIGT):c.1234+7A>T single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003581758] Chr20:45421590 [GRCh38]
Chr20:44050230 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.432C>T (p.Phe144=) single nucleotide variant not provided [RCV000942637] Chr20:45418918 [GRCh38]
Chr20:44047558 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1707C>T (p.Ile569=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002065666]|not provided [RCV003432886] Chr20:45425796 [GRCh38]
Chr20:44054436 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1484+10A>C single nucleotide variant not provided [RCV000943084] Chr20:45424589 [GRCh38]
Chr20:44053229 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1038C>A (p.Ala346=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002537540]|not provided [RCV003884795] Chr20:45421387 [GRCh38]
Chr20:44050027 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.723C>G (p.Thr241=) single nucleotide variant not provided [RCV000892771] Chr20:45420177 [GRCh38]
Chr20:44048817 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.306C>T (p.Pro102=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002548268] Chr20:45416635 [GRCh38]
Chr20:44045275 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1350G>A (p.Leu450=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002065983] Chr20:45424331 [GRCh38]
Chr20:44052971 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.12T>C (p.Ala4=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV000917352]|PIGT-related condition [RCV003923247]|not provided [RCV001788378] Chr20:45416168 [GRCh38]
Chr20:44044808 [GRCh37]
Chr20:20q13.12		 benign|likely benign
NM_015937.6(PIGT):c.1528A>T (p.Thr510Ser) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV000798420] Chr20:45425617 [GRCh38]
Chr20:44054257 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.796C>T (p.Arg266Ter) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV000791957]|not provided [RCV002223940] Chr20:45420358 [GRCh38]
Chr20:44048998 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic
NM_015937.6(PIGT):c.835C>T (p.Arg279Ter) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV000817723] Chr20:45420397 [GRCh38]
Chr20:44049037 [GRCh37]
Chr20:20q13.12		 pathogenic
NM_015937.6(PIGT):c.347T>A (p.Phe116Tyr) single nucleotide variant Inborn genetic diseases [RCV003344040]|not specified [RCV000784993] Chr20:45416676 [GRCh38]
Chr20:44045316 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1717C>T (p.Arg573Ter) single nucleotide variant High myopia [RCV000785734]|Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001855703] Chr20:45425806 [GRCh38]
Chr20:44054446 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.366-5T>C single nucleotide variant not provided [RCV000936293] Chr20:45418847 [GRCh38]
Chr20:44047487 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.594+9G>A single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001445289] Chr20:45419404 [GRCh38]
Chr20:44048044 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.365+194G>A single nucleotide variant not provided [RCV001569321] Chr20:45416888 [GRCh38]
Chr20:44045528 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.14T>C (p.Met5Thr) single nucleotide variant not provided [RCV001573602] Chr20:45416170 [GRCh38]
Chr20:44044810 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.19C>G (p.Leu7Val) single nucleotide variant not provided [RCV003318265] Chr20:45416175 [GRCh38]
Chr20:44044815 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.594+30C>G single nucleotide variant not provided [RCV001553057] Chr20:45419425 [GRCh38]
Chr20:44048065 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1400+48T>C single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001788820]|Paroxysmal nocturnal hemoglobinuria 2 [RCV001788821]|not provided [RCV001713910] Chr20:45424429 [GRCh38]
Chr20:44053069 [GRCh37]
Chr20:20q13.12		 benign
NM_015937.6(PIGT):c.1485-170G>A single nucleotide variant not provided [RCV001709859] Chr20:45425404 [GRCh38]
Chr20:44054044 [GRCh37]
Chr20:20q13.12		 benign
NM_015937.6(PIGT):c.1234+119T>C single nucleotide variant not provided [RCV001676781] Chr20:45421702 [GRCh38]
Chr20:44050342 [GRCh37]
Chr20:20q13.12		 benign
NM_015937.6(PIGT):c.1034-103dup duplication not provided [RCV001656759] Chr20:45421276..45421277 [GRCh38]
Chr20:44049916..44049917 [GRCh37]
Chr20:20q13.12		 benign
NM_015937.6(PIGT):c.1417G>A (p.Ala473Thr) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV000887190]|not provided [RCV001557049] Chr20:45424512 [GRCh38]
Chr20:44053152 [GRCh37]
Chr20:20q13.12		 benign|likely benign
NM_015937.6(PIGT):c.864C>T (p.Asn288=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002539450] Chr20:45420426 [GRCh38]
Chr20:44049066 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.675T>C (p.Val225=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV000974789]|not provided [RCV001538577] Chr20:45419584 [GRCh38]
Chr20:44048224 [GRCh37]
Chr20:20q13.12		 benign|likely benign
NM_015937.6(PIGT):c.531G>A (p.Pro177=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV000970655]|PIGT-related condition [RCV003905997]|not provided [RCV003432975] Chr20:45419332 [GRCh38]
Chr20:44047972 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.918C>T (p.Asp306=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV000886917] Chr20:45420578 [GRCh38]
Chr20:44049218 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1305G>A (p.Pro435=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002544398] Chr20:45424286 [GRCh38]
Chr20:44052926 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.819C>G (p.Pro273=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002542305] Chr20:45420381 [GRCh38]
Chr20:44049021 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1612G>A (p.Val538Met) single nucleotide variant Inborn genetic diseases [RCV003269556]|not provided [RCV003233185] Chr20:45425701 [GRCh38]
Chr20:44054341 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.594+36dup duplication Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001788694]|Paroxysmal nocturnal hemoglobinuria 2 [RCV001788695]|not provided [RCV001655291] Chr20:45419425..45419426 [GRCh38]
Chr20:44048065..44048066 [GRCh37]
Chr20:20q13.12		 benign
NC_000020.11:g.45415871G>A single nucleotide variant not provided [RCV001637912] Chr20:45415871 [GRCh38]
Chr20:44044511 [GRCh37]
Chr20:20q13.12		 benign
NM_015937.6(PIGT):c.365+236A>C single nucleotide variant not provided [RCV001638437] Chr20:45416930 [GRCh38]
Chr20:44045570 [GRCh37]
Chr20:20q13.12		 benign
NM_015937.6(PIGT):c.1127A>C (p.His376Pro) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002558731]|not provided [RCV001172143] Chr20:45421476 [GRCh38]
Chr20:44050116 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.366-184G>A single nucleotide variant not provided [RCV001669014] Chr20:45418668 [GRCh38]
Chr20:44047308 [GRCh37]
Chr20:20q13.12		 benign
NM_015937.6(PIGT):c.1595C>T (p.Thr532Met) single nucleotide variant not provided [RCV001589598] Chr20:45425684 [GRCh38]
Chr20:44054324 [GRCh37]
Chr20:20q13.12		 likely pathogenic|conflicting interpretations of pathogenicity
NM_015937.6(PIGT):c.1033+150G>A single nucleotide variant not provided [RCV001648322] Chr20:45420843 [GRCh38]
Chr20:44049483 [GRCh37]
Chr20:20q13.12		 benign
NM_015937.6(PIGT):c.1043dup (p.Val349fs) duplication Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002573351]|not provided [RCV001588111] Chr20:45421385..45421386 [GRCh38]
Chr20:44050025..44050026 [GRCh37]
Chr20:20q13.12		 pathogenic
Single allele deletion Focal-onset seizure [RCV001004039] Chr20:34980430..46806549 [GRCh37]
Chr20:20q11.23-13.13		 likely pathogenic
NM_015937.6(PIGT):c.1711C>T (p.Arg571Cys) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001041725] Chr20:45425800 [GRCh38]
Chr20:44054440 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1072G>A (p.Val358Met) single nucleotide variant Paroxysmal nocturnal hemoglobinuria 2 [RCV001255881] Chr20:45421421 [GRCh38]
Chr20:44050061 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1691G>A (p.Arg564Gln) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001262941] Chr20:45425780 [GRCh38]
Chr20:44054420 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1455C>G (p.Asp485Glu) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001301007] Chr20:45424550 [GRCh38]
Chr20:44053190 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1045G>A (p.Val349Met) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001315222] Chr20:45421394 [GRCh38]
Chr20:44050034 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1519C>T (p.Arg507Trp) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001299528]|not provided [RCV001726479] Chr20:45425608 [GRCh38]
Chr20:44054248 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1597T>G (p.Cys533Gly) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001326442] Chr20:45425686 [GRCh38]
Chr20:44054326 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.204C>T (p.Leu68=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001396664] Chr20:45416533 [GRCh38]
Chr20:44045173 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1082A>G (p.Tyr361Cys) single nucleotide variant Inborn genetic diseases [RCV002547645]|Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002548516]|not provided [RCV001356776] Chr20:45421431 [GRCh38]
Chr20:44050071 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.192C>A (p.Ser64=) single nucleotide variant not provided [RCV001310461] Chr20:45416521 [GRCh38]
Chr20:44045161 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1729C>G (p.Pro577Ala) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001334886] Chr20:45425818 [GRCh38]
Chr20:44054458 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.612_613delinsTT (p.Leu204_Leu205=) indel Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001295255] Chr20:45419521..45419522 [GRCh38]
Chr20:44048161..44048162 [GRCh37]
Chr20:20q13.12		 likely benign|uncertain significance
NM_015937.6(PIGT):c.74C>T (p.Pro25Leu) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001319869] Chr20:45416230 [GRCh38]
Chr20:44044870 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.689G>A (p.Arg230His) single nucleotide variant Inborn genetic diseases [RCV002547449]|Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001345853] Chr20:45420143 [GRCh38]
Chr20:44048783 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1730dup (p.Leu578fs) duplication Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001330694]|not provided [RCV001843583] Chr20:45425813..45425814 [GRCh38]
Chr20:44054453..44054454 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic|uncertain significance
NM_015937.6(PIGT):c.848A>T (p.Asp283Val) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001334887]|not provided [RCV001545961] Chr20:45420410 [GRCh38]
Chr20:44049050 [GRCh37]
Chr20:20q13.12		 conflicting interpretations of pathogenicity|uncertain significance
NM_015937.6(PIGT):c.1034-5C>A single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001476255] Chr20:45421378 [GRCh38]
Chr20:44050018 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.6G>C (p.Ala2=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001480641] Chr20:45416162 [GRCh38]
Chr20:44044802 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1033+15G>C single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001404276] Chr20:45420708 [GRCh38]
Chr20:44049348 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.417C>T (p.Cys139=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001408861] Chr20:45418903 [GRCh38]
Chr20:44047543 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.365+276G>A single nucleotide variant not provided [RCV001610913] Chr20:45416970 [GRCh38]
Chr20:44045610 [GRCh37]
Chr20:20q13.12		 benign
NM_015937.6(PIGT):c.1371G>A (p.Thr457=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001520772]|Paroxysmal nocturnal hemoglobinuria 2 [RCV001788572]|not provided [RCV001692423] Chr20:45424352 [GRCh38]
Chr20:44052992 [GRCh37]
Chr20:20q13.12		 benign
NM_015937.6(PIGT):c.777C>T (p.Ser259=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001487424] Chr20:45420339 [GRCh38]
Chr20:44048979 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.*182G>C single nucleotide variant not provided [RCV001732752] Chr20:45426008 [GRCh38]
Chr20:44054648 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1234+152C>T single nucleotide variant not provided [RCV001732568] Chr20:45421735 [GRCh38]
Chr20:44050375 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.187+24G>A single nucleotide variant not provided [RCV001732792] Chr20:45416367 [GRCh38]
Chr20:44045007 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1235-193C>G single nucleotide variant not provided [RCV001732761] Chr20:45424023 [GRCh38]
Chr20:44052663 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.365+293G>T single nucleotide variant not provided [RCV001732572] Chr20:45416987 [GRCh38]
Chr20:44045627 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.366-328C>T single nucleotide variant not provided [RCV001732667] Chr20:45418524 [GRCh38]
Chr20:44047164 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.682-246C>G single nucleotide variant not provided [RCV001733106] Chr20:45419890 [GRCh38]
Chr20:44048530 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.986C>T (p.Ser329Phe) single nucleotide variant not provided [RCV002280416] Chr20:45420646 [GRCh38]
Chr20:44049286 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.424C>T (p.Leu142Phe) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001882843]|not provided [RCV001751899] Chr20:45418910 [GRCh38]
Chr20:44047550 [GRCh37]
Chr20:20q13.12		 uncertain significance
GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1 copy number loss Developmental and epileptic encephalopathy, 26 [RCV001801198] Chr20:42985044..48599046 [GRCh37]
Chr20:20q13.12-13.13		 pathogenic
NM_015937.6(PIGT):c.1724_1725insA (p.Leu578fs) insertion not specified [RCV001733685] Chr20:45425813..45425814 [GRCh38]
Chr20:44054453..44054454 [GRCh37]
Chr20:20q13.12		 likely pathogenic
NM_015937.6(PIGT):c.1034-206A>G single nucleotide variant not provided [RCV001787002] Chr20:45421177 [GRCh38]
Chr20:44049817 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1034-235G>A single nucleotide variant not provided [RCV001733156] Chr20:45421148 [GRCh38]
Chr20:44049788 [GRCh37]
Chr20:20q13.12		 likely benign
NC_000020.11:g.45415882TTA[1] microsatellite not provided [RCV001756357] Chr20:45415880..45415882 [GRCh38]
Chr20:44044520..44044522 [GRCh37]
Chr20:20q13.12		 benign
NM_015937.6(PIGT):c.1690C>T (p.Arg564Trp) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003120697]|not provided [RCV001806577] Chr20:45425779 [GRCh38]
Chr20:44054419 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1034-18T>C single nucleotide variant not provided [RCV001806902] Chr20:45421365 [GRCh38]
Chr20:44050005 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.245_246del (p.Leu82fs) deletion not provided [RCV001806903] Chr20:45416574..45416575 [GRCh38]
Chr20:44045214..44045215 [GRCh37]
Chr20:20q13.12		 likely pathogenic
NM_015937.6(PIGT):c.1680C>G (p.Gly560=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001896759] Chr20:45425769 [GRCh38]
Chr20:44054409 [GRCh37]
Chr20:20q13.12		 likely benign|uncertain significance
NM_015937.6(PIGT):c.8C>T (p.Ala3Val) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001874739] Chr20:45416164 [GRCh38]
Chr20:44044804 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1265G>A (p.Arg422Gln) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001889765] Chr20:45424246 [GRCh38]
Chr20:44052886 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.167C>T (p.Ser56Leu) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001908757] Chr20:45416323 [GRCh38]
Chr20:44044963 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1073T>G (p.Val358Gly) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001893585]|not provided [RCV003319487] Chr20:45421422 [GRCh38]
Chr20:44050062 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.61T>G (p.Cys21Gly) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001894467] Chr20:45416217 [GRCh38]
Chr20:44044857 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1343G>A (p.Arg448Gln) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001884923]|not provided [RCV002265041] Chr20:45424324 [GRCh38]
Chr20:44052964 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1553C>T (p.Pro518Leu) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001989803] Chr20:45425642 [GRCh38]
Chr20:44054282 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.738T>G (p.Phe246Leu) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001951929] Chr20:45420192 [GRCh38]
Chr20:44048832 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1267C>G (p.Leu423Val) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001975906] Chr20:45424248 [GRCh38]
Chr20:44052888 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1520G>A (p.Arg507Gln) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001902169]|not provided [RCV003132569] Chr20:45425609 [GRCh38]
Chr20:44054249 [GRCh37]
Chr20:20q13.12		 conflicting interpretations of pathogenicity|uncertain significance
NM_015937.6(PIGT):c.262T>C (p.Ser88Pro) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001976446] Chr20:45416591 [GRCh38]
Chr20:44045231 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.271C>T (p.Gln91Ter) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001930844] Chr20:45416600 [GRCh38]
Chr20:44045240 [GRCh37]
Chr20:20q13.12		 pathogenic
NM_015937.6(PIGT):c.836G>A (p.Arg279Gln) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001921656] Chr20:45420398 [GRCh38]
Chr20:44049038 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1279C>T (p.Leu427Phe) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001922314] Chr20:45424260 [GRCh38]
Chr20:44052900 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1421T>C (p.Leu474Pro) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001907395] Chr20:45424516 [GRCh38]
Chr20:44053156 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1579A>C (p.Asn527His) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001940553] Chr20:45425668 [GRCh38]
Chr20:44054308 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.532C>T (p.Arg178Trp) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001991732] Chr20:45419333 [GRCh38]
Chr20:44047973 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1670G>A (p.Arg557His) single nucleotide variant Inborn genetic diseases [RCV002560447]|Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001921442] Chr20:45425759 [GRCh38]
Chr20:44054399 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.190T>C (p.Ser64Pro) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV001931061] Chr20:45416519 [GRCh38]
Chr20:44045159 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1484+18C>T single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002188820] Chr20:45424597 [GRCh38]
Chr20:44053237 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1581C>T (p.Asn527=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002173384] Chr20:45425670 [GRCh38]
Chr20:44054310 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1554G>A (p.Pro518=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002171742] Chr20:45425643 [GRCh38]
Chr20:44054283 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.188-12C>T single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002093041] Chr20:45416505 [GRCh38]
Chr20:44045145 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1164C>T (p.Thr388=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002095754]|not provided [RCV003438944] Chr20:45421513 [GRCh38]
Chr20:44050153 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1659C>T (p.Ile553=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002082099] Chr20:45425748 [GRCh38]
Chr20:44054388 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.438C>T (p.Asp146=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002219833] Chr20:45418924 [GRCh38]
Chr20:44047564 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1197C>G (p.Thr399=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002102973] Chr20:45421546 [GRCh38]
Chr20:44050186 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.135C>T (p.Ala45=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002164305] Chr20:45416291 [GRCh38]
Chr20:44044931 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.868-10G>A single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002100372] Chr20:45420518 [GRCh38]
Chr20:44049158 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1071C>T (p.Tyr357=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002202981] Chr20:45421420 [GRCh38]
Chr20:44050060 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1425G>T (p.Val475=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002202046] Chr20:45424520 [GRCh38]
Chr20:44053160 [GRCh37]
Chr20:20q13.12		 likely benign
NC_000020.10:g.(?_42223339)_(44638757_?)del deletion Combined immunodeficiency due to STK4 deficiency [RCV003109483] Chr20:42223339..44638757 [GRCh37]
Chr20:20q13.12		 pathogenic
NM_015937.6(PIGT):c.1363G>A (p.Glu455Lys) single nucleotide variant not provided [RCV003123187] Chr20:45424344 [GRCh38]
Chr20:44052984 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.910dup (p.Tyr304fs) duplication Neurodevelopmental delay [RCV002274434] Chr20:45420569..45420570 [GRCh38]
Chr20:44049209..44049210 [GRCh37]
Chr20:20q13.12		 pathogenic
NM_015937.6(PIGT):c.1165G>A (p.Val389Ile) single nucleotide variant not provided [RCV002274601] Chr20:45421514 [GRCh38]
Chr20:44050154 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.700A>G (p.Ile234Val) single nucleotide variant not provided [RCV002274788] Chr20:45420154 [GRCh38]
Chr20:44048794 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1553C>G (p.Pro518Arg) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003130916] Chr20:45425642 [GRCh38]
Chr20:44054282 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.886G>A (p.Val296Met) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002967833]|not provided [RCV003149046] Chr20:45420546 [GRCh38]
Chr20:44049186 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1730C>T (p.Pro577Leu) single nucleotide variant not provided [RCV003237225] Chr20:45425819 [GRCh38]
Chr20:44054459 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1591C>T (p.Leu531Phe) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002303548] Chr20:45425680 [GRCh38]
Chr20:44054320 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1676G>A (p.Gly559Asp) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002296701] Chr20:45425765 [GRCh38]
Chr20:44054405 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1713C>A (p.Arg571=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002614993] Chr20:45425802 [GRCh38]
Chr20:44054442 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.893C>G (p.Pro298Arg) single nucleotide variant not provided [RCV002461810] Chr20:45420553 [GRCh38]
Chr20:44049193 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1036G>C (p.Ala346Pro) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002618429] Chr20:45421385 [GRCh38]
Chr20:44050025 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.19C>T (p.Leu7Phe) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002843681] Chr20:45416175 [GRCh38]
Chr20:44044815 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1252C>G (p.Pro418Ala) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002794899] Chr20:45424233 [GRCh38]
Chr20:44052873 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1266G>A (p.Arg422=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002756080] Chr20:45424247 [GRCh38]
Chr20:44052887 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.742G>T (p.Ala248Ser) single nucleotide variant Inborn genetic diseases [RCV003273989]|Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002734860] Chr20:45420196 [GRCh38]
Chr20:44048836 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1723G>T (p.Val575Phe) single nucleotide variant Inborn genetic diseases [RCV002879843] Chr20:45425812 [GRCh38]
Chr20:44054452 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.595-5_595-3del microsatellite Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002971552] Chr20:45419495..45419497 [GRCh38]
Chr20:44048135..44048137 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.23C>G (p.Ala8Gly) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002904975] Chr20:45416179 [GRCh38]
Chr20:44044819 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1440A>T (p.Ala480=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002881435] Chr20:45424535 [GRCh38]
Chr20:44053175 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1484+3A>G single nucleotide variant Inborn genetic diseases [RCV002727515] Chr20:45424582 [GRCh38]
Chr20:44053222 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1634A>G (p.Asn545Ser) single nucleotide variant Inborn genetic diseases [RCV003274306]|Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002640364] Chr20:45425723 [GRCh38]
Chr20:44054363 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.493+16C>T single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002780630] Chr20:45418995 [GRCh38]
Chr20:44047635 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.494-10T>G single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002999339] Chr20:45419285 [GRCh38]
Chr20:44047925 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1002C>T (p.Ile334=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002571969] Chr20:45420662 [GRCh38]
Chr20:44049302 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.668G>A (p.Arg223His) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002953135] Chr20:45419577 [GRCh38]
Chr20:44048217 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.493+11C>A single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003037689] Chr20:45418990 [GRCh38]
Chr20:44047630 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.366-6A>G single nucleotide variant Inborn genetic diseases [RCV002707631] Chr20:45418846 [GRCh38]
Chr20:44047486 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.545G>A (p.Cys182Tyr) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002756854] Chr20:45419346 [GRCh38]
Chr20:44047986 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.770-9G>T single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002619704] Chr20:45420323 [GRCh38]
Chr20:44048963 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.23C>T (p.Ala8Val) single nucleotide variant Inborn genetic diseases [RCV002761862] Chr20:45416179 [GRCh38]
Chr20:44044819 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.484C>T (p.Leu162=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002780361] Chr20:45418970 [GRCh38]
Chr20:44047610 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1641C>T (p.Leu547=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002979538] Chr20:45425730 [GRCh38]
Chr20:44054370 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1485-19G>A single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003036762] Chr20:45425555 [GRCh38]
Chr20:44054195 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1072G>T (p.Val358Leu) single nucleotide variant Inborn genetic diseases [RCV002661460] Chr20:45421421 [GRCh38]
Chr20:44050061 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1033+20G>T single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002621250] Chr20:45420713 [GRCh38]
Chr20:44049353 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.113C>T (p.Pro38Leu) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002640106] Chr20:45416269 [GRCh38]
Chr20:44044909 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.564del (p.Trp189fs) deletion Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002848440] Chr20:45419361 [GRCh38]
Chr20:44048001 [GRCh37]
Chr20:20q13.12		 pathogenic
NM_015937.6(PIGT):c.626G>A (p.Arg209His) single nucleotide variant Inborn genetic diseases [RCV002691924] Chr20:45419535 [GRCh38]
Chr20:44048175 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.366-8C>T single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002876090] Chr20:45418844 [GRCh38]
Chr20:44047484 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.879A>G (p.Thr293=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002575314] Chr20:45420539 [GRCh38]
Chr20:44049179 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.725T>A (p.Leu242Gln) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003026233] Chr20:45420179 [GRCh38]
Chr20:44048819 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.873C>T (p.Asn291=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002576297] Chr20:45420533 [GRCh38]
Chr20:44049173 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1683G>A (p.Leu561=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002932032] Chr20:45425772 [GRCh38]
Chr20:44054412 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.595-10T>A single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002627080] Chr20:45419494 [GRCh38]
Chr20:44048134 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.33C>T (p.Val11=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002624891]|PIGT-related condition [RCV003946333] Chr20:45416189 [GRCh38]
Chr20:44044829 [GRCh37]
Chr20:20q13.12		 benign|likely benign
NM_015937.6(PIGT):c.458C>T (p.Pro153Leu) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002801862] Chr20:45418944 [GRCh38]
Chr20:44047584 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.784C>T (p.Arg262Trp) single nucleotide variant Inborn genetic diseases [RCV002641795] Chr20:45420346 [GRCh38]
Chr20:44048986 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.580C>T (p.Pro194Ser) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002982270] Chr20:45419381 [GRCh38]
Chr20:44048021 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.842A>G (p.Tyr281Cys) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003056498] Chr20:45420404 [GRCh38]
Chr20:44049044 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.295T>G (p.Trp99Gly) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003040131] Chr20:45416624 [GRCh38]
Chr20:44045264 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1200C>T (p.Leu400=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002574516] Chr20:45421549 [GRCh38]
Chr20:44050189 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.752C>T (p.Thr251Met) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002574681] Chr20:45420206 [GRCh38]
Chr20:44048846 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1235-15C>T single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003056852] Chr20:45424201 [GRCh38]
Chr20:44052841 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1620_1621inv (p.Gly541Ser) inversion Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002982235] Chr20:45425709..45425710 [GRCh38]
Chr20:44054349..44054350 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1084G>T (p.Gly362Trp) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003040666] Chr20:45421433 [GRCh38]
Chr20:44050073 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.837A>T (p.Arg279=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002623310] Chr20:45420399 [GRCh38]
Chr20:44049039 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.527T>C (p.Leu176Pro) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002918206] Chr20:45419328 [GRCh38]
Chr20:44047968 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.563C>A (p.Pro188His) single nucleotide variant Inborn genetic diseases [RCV002788335] Chr20:45419364 [GRCh38]
Chr20:44048004 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.770-12T>A single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002919225] Chr20:45420320 [GRCh38]
Chr20:44048960 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1180C>T (p.Arg394Trp) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002918597] Chr20:45421529 [GRCh38]
Chr20:44050169 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1660G>A (p.Glu554Lys) single nucleotide variant Inborn genetic diseases [RCV002598588]|Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002574552] Chr20:45425749 [GRCh38]
Chr20:44054389 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1145C>T (p.Pro382Leu) single nucleotide variant not provided [RCV002508627] Chr20:45421494 [GRCh38]
Chr20:44050134 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1613T>C (p.Val538Ala) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003058613] Chr20:45425702 [GRCh38]
Chr20:44054342 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.435C>T (p.Ile145=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003041198] Chr20:45418921 [GRCh38]
Chr20:44047561 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1669C>T (p.Arg557Cys) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003007746] Chr20:45425758 [GRCh38]
Chr20:44054398 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1008C>T (p.Leu336=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002631709] Chr20:45420668 [GRCh38]
Chr20:44049308 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.46G>T (p.Gly16Trp) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002676544] Chr20:45416202 [GRCh38]
Chr20:44044842 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.293A>G (p.Tyr98Cys) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002582172] Chr20:45416622 [GRCh38]
Chr20:44045262 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.543C>T (p.Val181=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002746274] Chr20:45419344 [GRCh38]
Chr20:44047984 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1189G>T (p.Val397Leu) single nucleotide variant Inborn genetic diseases [RCV002747774] Chr20:45421538 [GRCh38]
Chr20:44050178 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.662A>G (p.His221Arg) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003047693] Chr20:45419571 [GRCh38]
Chr20:44048211 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1502G>A (p.Gly501Asp) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002967056] Chr20:45425591 [GRCh38]
Chr20:44054231 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.264A>G (p.Ser88=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003065429] Chr20:45416593 [GRCh38]
Chr20:44045233 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.494-16C>T single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002671283] Chr20:45419279 [GRCh38]
Chr20:44047919 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1264C>T (p.Arg422Trp) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002647795] Chr20:45424245 [GRCh38]
Chr20:44052885 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.625C>T (p.Arg209Cys) single nucleotide variant Inborn genetic diseases [RCV003269281]|Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002770192] Chr20:45419534 [GRCh38]
Chr20:44048174 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1284G>A (p.Leu428=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003009339] Chr20:45424265 [GRCh38]
Chr20:44052905 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.366-17T>C single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002598970] Chr20:45418835 [GRCh38]
Chr20:44047475 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1297C>G (p.Gln433Glu) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002791716] Chr20:45424278 [GRCh38]
Chr20:44052918 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1571T>C (p.Met524Thr) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003046044] Chr20:45425660 [GRCh38]
Chr20:44054300 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1130C>T (p.Pro377Leu) single nucleotide variant Inborn genetic diseases [RCV002989038]|not provided [RCV003313310] Chr20:45421479 [GRCh38]
Chr20:44050119 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1304C>T (p.Pro435Leu) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002675916]|not provided [RCV003443066] Chr20:45424285 [GRCh38]
Chr20:44052925 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1125C>T (p.Thr375=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002833082] Chr20:45421474 [GRCh38]
Chr20:44050114 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.578T>G (p.Leu193Trp) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002791930] Chr20:45419379 [GRCh38]
Chr20:44048019 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.25C>T (p.Leu9=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003065661] Chr20:45416181 [GRCh38]
Chr20:44044821 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.667C>T (p.Arg223Cys) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002939155] Chr20:45419576 [GRCh38]
Chr20:44048216 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.81C>G (p.Arg27=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002811135] Chr20:45416237 [GRCh38]
Chr20:44044877 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.365+17G>T single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003068312] Chr20:45416711 [GRCh38]
Chr20:44045351 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1575C>G (p.Pro525=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002654574] Chr20:45425664 [GRCh38]
Chr20:44054304 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.688C>T (p.Arg230Cys) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002606504] Chr20:45420142 [GRCh38]
Chr20:44048782 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.70G>A (p.Glu24Lys) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003070384] Chr20:45416226 [GRCh38]
Chr20:44044866 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1712G>A (p.Arg571His) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002607679] Chr20:45425801 [GRCh38]
Chr20:44054441 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.221G>T (p.Gly74Val) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002589795] Chr20:45416550 [GRCh38]
Chr20:44045190 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1485-20C>T single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002584698] Chr20:45425554 [GRCh38]
Chr20:44054194 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.581C>T (p.Pro194Leu) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002944038]|not provided [RCV003149044] Chr20:45419382 [GRCh38]
Chr20:44048022 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.925C>G (p.Leu309Val) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002633547] Chr20:45420585 [GRCh38]
Chr20:44049225 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1529C>T (p.Thr510Met) single nucleotide variant Inborn genetic diseases [RCV003161952]|Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002603356] Chr20:45425618 [GRCh38]
Chr20:44054258 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.108C>T (p.Ile36=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002603369] Chr20:45416264 [GRCh38]
Chr20:44044904 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1346C>T (p.Ala449Val) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002633794] Chr20:45424327 [GRCh38]
Chr20:44052967 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.770-15C>T single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV002611786] Chr20:45420317 [GRCh38]
Chr20:44048957 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.493+6A>T single nucleotide variant not provided [RCV003131964] Chr20:45418985 [GRCh38]
Chr20:44047625 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1714G>A (p.Ala572Thr) single nucleotide variant Inborn genetic diseases [RCV003175454] Chr20:45425803 [GRCh38]
Chr20:44054443 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1708C>T (p.Arg570Trp) single nucleotide variant Inborn genetic diseases [RCV003174740] Chr20:45425797 [GRCh38]
Chr20:44054437 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1234+5G>A single nucleotide variant not provided [RCV003228408] Chr20:45421588 [GRCh38]
Chr20:44050228 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.22G>C (p.Ala8Pro) single nucleotide variant Inborn genetic diseases [RCV003194241] Chr20:45416178 [GRCh38]
Chr20:44044818 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.82G>A (p.Asp28Asn) single nucleotide variant not provided [RCV003134913] Chr20:45416238 [GRCh38]
Chr20:44044878 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.979A>C (p.Asn327His) single nucleotide variant Inborn genetic diseases [RCV003172728] Chr20:45420639 [GRCh38]
Chr20:44049279 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1298A>C (p.Gln433Pro) single nucleotide variant not provided [RCV003225594] Chr20:45424279 [GRCh38]
Chr20:44052919 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1108A>G (p.Thr370Ala) single nucleotide variant Inborn genetic diseases [RCV003184851] Chr20:45421457 [GRCh38]
Chr20:44050097 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1570A>T (p.Met524Leu) single nucleotide variant not specified [RCV003324198] Chr20:45425659 [GRCh38]
Chr20:44054299 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.60G>C (p.Trp20Cys) single nucleotide variant Inborn genetic diseases [RCV003308669] Chr20:45416216 [GRCh38]
Chr20:44044856 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.709G>C (p.Glu237Gln) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003338022] Chr20:45420163 [GRCh38]
Chr20:44048803 [GRCh37]
Chr20:20q13.12		 likely pathogenic|conflicting interpretations of pathogenicity
NM_015937.6(PIGT):c.1043C>T (p.Pro348Leu) single nucleotide variant Inborn genetic diseases [RCV003373455] Chr20:45421392 [GRCh38]
Chr20:44050032 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1526A>G (p.Tyr509Cys) single nucleotide variant not provided [RCV003480365] Chr20:45425615 [GRCh38]
Chr20:44054255 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1370C>A (p.Thr457Lys) single nucleotide variant not provided [RCV003440415] Chr20:45424351 [GRCh38]
Chr20:44052991 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.476C>T (p.Pro159Leu) single nucleotide variant not provided [RCV003441328] Chr20:45418962 [GRCh38]
Chr20:44047602 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.13A>G (p.Met5Val) single nucleotide variant not provided [RCV003431334] Chr20:45416169 [GRCh38]
Chr20:44044809 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.769+5G>A single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003831529] Chr20:45420228 [GRCh38]
Chr20:44048868 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.471C>T (p.Phe157=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003582807] Chr20:45418957 [GRCh38]
Chr20:44047597 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.770-14G>A single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003582069] Chr20:45420318 [GRCh38]
Chr20:44048958 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1646G>A (p.Arg549Gln) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003582629] Chr20:45425735 [GRCh38]
Chr20:44054375 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.365+13C>T single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003581172] Chr20:45416707 [GRCh38]
Chr20:44045347 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1485-12C>T single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003581251] Chr20:45425562 [GRCh38]
Chr20:44054202 [GRCh37]
Chr20:20q13.12		 benign
NM_015937.6(PIGT):c.1400+15C>A single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003742278] Chr20:45424396 [GRCh38]
Chr20:44053036 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.573G>A (p.Lys191=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003741090] Chr20:45419374 [GRCh38]
Chr20:44048014 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1126C>G (p.His376Asp) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003740869] Chr20:45421475 [GRCh38]
Chr20:44050115 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1594dup (p.Thr532fs) duplication Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003582780] Chr20:45425682..45425683 [GRCh38]
Chr20:44054322..44054323 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_015937.6(PIGT):c.1650C>T (p.Thr550=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003742253] Chr20:45425739 [GRCh38]
Chr20:44054379 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.681+8A>G single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003582462] Chr20:45419598 [GRCh38]
Chr20:44048238 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1578C>T (p.Tyr526=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003741716] Chr20:45425667 [GRCh38]
Chr20:44054307 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1560G>A (p.Pro520=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003740953] Chr20:45425649 [GRCh38]
Chr20:44054289 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1362C>T (p.Thr454=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003583027] Chr20:45424343 [GRCh38]
Chr20:44052983 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1257C>T (p.Ala419=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003741030] Chr20:45424238 [GRCh38]
Chr20:44052878 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1059T>C (p.His353=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003741947] Chr20:45421408 [GRCh38]
Chr20:44050048 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1153C>T (p.Leu385=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003862720] Chr20:45421502 [GRCh38]
Chr20:44050142 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1155G>A (p.Leu385=) single nucleotide variant Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003862676] Chr20:45421504 [GRCh38]
Chr20:44050144 [GRCh37]
Chr20:20q13.12		 likely benign
NM_015937.6(PIGT):c.1043del (p.Pro348fs) deletion Multiple congenital anomalies-hypotonia-seizures syndrome 3 [RCV003854042] Chr20:45421386 [GRCh38]
Chr20:44050026 [GRCh37]
Chr20:20q13.12		 pathogenic
NM_015937.6(PIGT):c.270A>C (p.Thr90=) single nucleotide variant not provided [RCV003887725] Chr20:45416599 [GRCh38]
Chr20:44045239 [GRCh37]
Chr20:20q13.12		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2610
Count of miRNA genes:754
Interacting mature miRNAs:878
Transcripts:ENST00000279035, ENST00000279036, ENST00000341555, ENST00000372689, ENST00000432270, ENST00000455050, ENST00000535404, ENST00000543458, ENST00000545755
Prediction methods:Microtar, Miranda, 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.

Markers in Region
WI-12135  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,054,741 - 44,054,865UniSTSGRCh37
Build 362043,488,155 - 43,488,279RGDNCBI36
Celera2040,763,252 - 40,763,376RGD
Cytogenetic Map20q12-q13.12UniSTS
HuRef2040,796,224 - 40,796,348UniSTS
GeneMap99-GB4 RH Map20237.11UniSTS
GeneMap99-GB4 RH Map20254.92UniSTS
Whitehead-RH Map20292.7UniSTS
RH80364  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,051,453 - 44,051,675UniSTSGRCh37
Build 362043,484,867 - 43,485,089RGDNCBI36
Celera2040,759,964 - 40,760,186RGD
Cytogenetic Map20q12-q13.12UniSTS
HuRef2040,792,947 - 40,793,169UniSTS
STS-AA032233  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,050,038 - 44,050,225UniSTSGRCh37
Build 362043,483,452 - 43,483,639RGDNCBI36
Celera2040,758,549 - 40,758,736RGD
Cytogenetic Map20q12-q13.12UniSTS
HuRef2040,791,532 - 40,791,719UniSTS
GeneMap99-GB4 RH Map20261.15UniSTS
D10S16   No map positions available.
D5S1597E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map6q16.2UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS
D10S16  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map4q34UniSTS
Cytogenetic Map2p22-p21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map1p36.23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map3p23-p21UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1p36.1-p34UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map3p23UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q26.2UniSTS


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 2 2 17
Medium 2405 2327 1475 417 1148 260 4027 1742 1775 366 1428 1608 173 1 1194 2476 6 2
Low 32 664 251 207 803 205 328 455 1959 53 15 5 2 10 312
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_047154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001184728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001184729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001184730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_047691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_047692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_047693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_047694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_047695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB057724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF058295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF132940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF305815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL021578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP392024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS051295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA037291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC384944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC399420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000279035   ⟹   ENSP00000279035
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,084 - 45,426,202 (+)Ensembl
RefSeq Acc Id: ENST00000279036   ⟹   ENSP00000279036
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,141 - 45,426,241 (+)Ensembl
RefSeq Acc Id: ENST00000372689   ⟹   ENSP00000361774
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,137 - 45,426,241 (+)Ensembl
RefSeq Acc Id: ENST00000424705   ⟹   ENSP00000491856
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,112 - 45,448,581 (+)Ensembl
RefSeq Acc Id: ENST00000432270   ⟹   ENSP00000408354
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,152 - 45,424,315 (+)Ensembl
RefSeq Acc Id: ENST00000455050   ⟹   ENSP00000407574
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,141 - 45,425,977 (+)Ensembl
RefSeq Acc Id: ENST00000543458   ⟹   ENSP00000441577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,107 - 45,426,244 (+)Ensembl
RefSeq Acc Id: ENST00000545755   ⟹   ENSP00000443963
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,154 - 45,425,826 (+)Ensembl
RefSeq Acc Id: ENST00000595203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,445,431 - 45,448,580 (+)Ensembl
RefSeq Acc Id: ENST00000638241
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,423,104 - 45,426,217 (+)Ensembl
RefSeq Acc Id: ENST00000638246   ⟹   ENSP00000492883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,097 - 45,426,189 (+)Ensembl
RefSeq Acc Id: ENST00000638277   ⟹   ENSP00000491588
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,421,416 - 45,452,108 (+)Ensembl
RefSeq Acc Id: ENST00000638353   ⟹   ENSP00000491538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,142 - 45,421,583 (+)Ensembl
RefSeq Acc Id: ENST00000638383   ⟹   ENSP00000492295
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,122 - 45,426,241 (+)Ensembl
RefSeq Acc Id: ENST00000638387   ⟹   ENSP00000492873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,141 - 45,426,203 (+)Ensembl
RefSeq Acc Id: ENST00000638415   ⟹   ENSP00000491913
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,665 - 45,430,073 (+)Ensembl
RefSeq Acc Id: ENST00000638445   ⟹   ENSP00000491297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,141 - 45,426,201 (+)Ensembl
RefSeq Acc Id: ENST00000638478   ⟹   ENSP00000491233
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,145 - 45,421,518 (+)Ensembl
RefSeq Acc Id: ENST00000638489   ⟹   ENSP00000491566
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,142 - 45,420,632 (+)Ensembl
RefSeq Acc Id: ENST00000638537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,418,382 - 45,426,202 (+)Ensembl
RefSeq Acc Id: ENST00000638594   ⟹   ENSP00000491697
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,141 - 45,448,578 (+)Ensembl
RefSeq Acc Id: ENST00000638612   ⟹   ENSP00000491458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,123 - 45,430,149 (+)Ensembl
RefSeq Acc Id: ENST00000638641
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,421,354 - 45,423,517 (+)Ensembl
RefSeq Acc Id: ENST00000638671   ⟹   ENSP00000492875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,141 - 45,426,195 (+)Ensembl
RefSeq Acc Id: ENST00000638689
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,127 - 45,426,196 (+)Ensembl
RefSeq Acc Id: ENST00000638691   ⟹   ENSP00000492094
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,141 - 45,426,239 (+)Ensembl
RefSeq Acc Id: ENST00000638710   ⟹   ENSP00000491406
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,519 - 45,426,210 (+)Ensembl
RefSeq Acc Id: ENST00000638714   ⟹   ENSP00000491194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,142 - 45,426,189 (+)Ensembl
RefSeq Acc Id: ENST00000638745   ⟹   ENSP00000491744
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,141 - 45,456,907 (+)Ensembl
RefSeq Acc Id: ENST00000638864   ⟹   ENSP00000491553
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,427,427 - 45,431,335 (+)Ensembl
RefSeq Acc Id: ENST00000638927   ⟹   ENSP00000492335
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,420,421 - 45,448,578 (+)Ensembl
RefSeq Acc Id: ENST00000638938   ⟹   ENSP00000491171
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,141 - 45,426,179 (+)Ensembl
RefSeq Acc Id: ENST00000638953   ⟹   ENSP00000492848
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,143 - 45,420,424 (+)Ensembl
RefSeq Acc Id: ENST00000638962
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,418,527 - 45,426,219 (+)Ensembl
RefSeq Acc Id: ENST00000638967
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,425,916 - 45,430,044 (+)Ensembl
RefSeq Acc Id: ENST00000638978   ⟹   ENSP00000492743
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,123 - 45,426,196 (+)Ensembl
RefSeq Acc Id: ENST00000639058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,451,935 - 45,456,934 (+)Ensembl
RefSeq Acc Id: ENST00000639194   ⟹   ENSP00000492210
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,313 - 45,420,151 (+)Ensembl
RefSeq Acc Id: ENST00000639235   ⟹   ENSP00000492498
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,145 - 45,421,409 (+)Ensembl
RefSeq Acc Id: ENST00000639239   ⟹   ENSP00000492843
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,420,601 - 45,421,794 (+)Ensembl
RefSeq Acc Id: ENST00000639250
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,418,241 - 45,426,202 (+)Ensembl
RefSeq Acc Id: ENST00000639286   ⟹   ENSP00000492507
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,150 - 45,421,493 (+)Ensembl
RefSeq Acc Id: ENST00000639292   ⟹   ENSP00000491678
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,157 - 45,426,167 (+)Ensembl
RefSeq Acc Id: ENST00000639382   ⟹   ENSP00000491534
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,144 - 45,424,302 (+)Ensembl
RefSeq Acc Id: ENST00000639417   ⟹   ENSP00000491058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,154 - 45,424,262 (+)Ensembl
RefSeq Acc Id: ENST00000639499   ⟹   ENSP00000491170
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,141 - 45,425,100 (+)Ensembl
RefSeq Acc Id: ENST00000639664
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,475 - 45,426,240 (+)Ensembl
RefSeq Acc Id: ENST00000639783   ⟹   ENSP00000491772
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,143 - 45,425,867 (+)Ensembl
RefSeq Acc Id: ENST00000639872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,419,906 - 45,426,018 (+)Ensembl
RefSeq Acc Id: ENST00000639932   ⟹   ENSP00000491600
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,141 - 45,426,200 (+)Ensembl
RefSeq Acc Id: ENST00000639984   ⟹   ENSP00000492727
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,123 - 45,426,202 (+)Ensembl
RefSeq Acc Id: ENST00000640107   ⟹   ENSP00000491118
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,141 - 45,426,195 (+)Ensembl
RefSeq Acc Id: ENST00000640108   ⟹   ENSP00000492007
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,132 - 45,426,133 (+)Ensembl
RefSeq Acc Id: ENST00000640123   ⟹   ENSP00000492417
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,424,270 - 45,426,189 (+)Ensembl
RefSeq Acc Id: ENST00000640175   ⟹   ENSP00000492418
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,141 - 45,425,909 (+)Ensembl
RefSeq Acc Id: ENST00000640194   ⟹   ENSP00000492279
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,151 - 45,426,202 (+)Ensembl
RefSeq Acc Id: ENST00000640210   ⟹   ENSP00000491164
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,144 - 45,426,202 (+)Ensembl
RefSeq Acc Id: ENST00000640253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,423,768 - 45,426,179 (+)Ensembl
RefSeq Acc Id: ENST00000640272   ⟹   ENSP00000492270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,141 - 45,426,189 (+)Ensembl
RefSeq Acc Id: ENST00000640324   ⟹   ENSP00000491074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,175 - 45,426,181 (+)Ensembl
RefSeq Acc Id: ENST00000640364
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,123 - 45,426,206 (+)Ensembl
RefSeq Acc Id: ENST00000640542   ⟹   ENSP00000492174
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,143 - 45,448,581 (+)Ensembl
RefSeq Acc Id: ENST00000640549   ⟹   ENSP00000492043
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,112 - 45,431,284 (+)Ensembl
RefSeq Acc Id: ENST00000640585   ⟹   ENSP00000491308
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,141 - 45,426,196 (+)Ensembl
RefSeq Acc Id: ENST00000640638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,423,814 - 45,425,123 (+)Ensembl
RefSeq Acc Id: ENST00000640649
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,419,942 - 45,420,683 (+)Ensembl
RefSeq Acc Id: ENST00000640666   ⟹   ENSP00000491072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,133 - 45,456,926 (+)Ensembl
RefSeq Acc Id: ENST00000640691
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,441,911 - 45,448,561 (+)Ensembl
RefSeq Acc Id: ENST00000640692   ⟹   ENSP00000492370
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,141 - 45,426,202 (+)Ensembl
RefSeq Acc Id: ENST00000640940
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,418,535 - 45,426,191 (+)Ensembl
RefSeq Acc Id: ENST00000640986   ⟹   ENSP00000491886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,141 - 45,426,240 (+)Ensembl
RefSeq Acc Id: ENST00000640996   ⟹   ENSP00000492464
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,133 - 45,426,184 (+)Ensembl
RefSeq Acc Id: ENST00000687237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,423,592 - 45,426,243 (+)Ensembl
RefSeq Acc Id: ENST00000689203   ⟹   ENSP00000508682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,112 - 45,430,044 (+)Ensembl
RefSeq Acc Id: ENST00000690376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,446,151 - 45,448,582 (+)Ensembl
RefSeq Acc Id: ENST00000690879
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,423,506 - 45,448,579 (+)Ensembl
RefSeq Acc Id: ENST00000692236   ⟹   ENSP00000509421
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,416,112 - 45,430,074 (+)Ensembl
RefSeq Acc Id: NM_001184728   ⟹   NP_001171657
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382045,416,141 - 45,426,241 (+)NCBI
GRCh372044,044,707 - 44,054,885 (+)NCBI
Celera2040,753,217 - 40,763,395 (+)RGD
HuRef2040,786,200 - 40,796,368 (+)NCBI
CHM1_12043,947,245 - 43,957,423 (+)NCBI
T2T-CHM13v2.02047,152,004 - 47,162,091 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001184729   ⟹   NP_001171658
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382045,416,141 - 45,426,241 (+)NCBI
GRCh372044,044,707 - 44,054,885 (+)NCBI
Celera2040,753,217 - 40,763,395 (+)RGD
HuRef2040,786,200 - 40,796,368 (+)NCBI
CHM1_12043,947,245 - 43,957,423 (+)NCBI
T2T-CHM13v2.02047,152,004 - 47,162,091 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001184730   ⟹   NP_001171659
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382045,416,141 - 45,426,241 (+)NCBI
GRCh372044,044,707 - 44,054,885 (+)NCBI
Celera2040,753,217 - 40,763,395 (+)RGD
HuRef2040,786,200 - 40,796,368 (+)NCBI
CHM1_12043,947,245 - 43,957,423 (+)NCBI
T2T-CHM13v2.02047,152,004 - 47,162,091 (+)NCBI
Sequence:
RefSeq Acc Id: NM_015937   ⟹   NP_057021
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382045,416,141 - 45,426,241 (+)NCBI
GRCh372044,044,707 - 44,054,885 (+)NCBI
Build 362043,478,138 - 43,488,298 (+)NCBI Archive
Celera2040,753,217 - 40,763,395 (+)RGD
HuRef2040,786,200 - 40,796,368 (+)NCBI
CHM1_12043,947,245 - 43,957,423 (+)NCBI
T2T-CHM13v2.02047,152,004 - 47,162,091 (+)NCBI
Sequence:
RefSeq Acc Id: NR_047691
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382045,416,141 - 45,426,241 (+)NCBI
GRCh372044,044,707 - 44,054,885 (+)NCBI
HuRef2040,786,200 - 40,796,368 (+)NCBI
CHM1_12043,947,245 - 43,957,423 (+)NCBI
T2T-CHM13v2.02047,152,004 - 47,162,091 (+)NCBI
Sequence:
RefSeq Acc Id: NR_047692
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382045,416,141 - 45,426,241 (+)NCBI
GRCh372044,044,707 - 44,054,885 (+)NCBI
HuRef2040,786,200 - 40,796,368 (+)NCBI
CHM1_12043,947,245 - 43,957,423 (+)NCBI
T2T-CHM13v2.02047,152,004 - 47,162,091 (+)NCBI
Sequence:
RefSeq Acc Id: NR_047693
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382045,416,141 - 45,426,241 (+)NCBI
GRCh372044,044,707 - 44,054,885 (+)NCBI
HuRef2040,786,200 - 40,796,368 (+)NCBI
CHM1_12043,947,245 - 43,957,423 (+)NCBI
T2T-CHM13v2.02047,152,004 - 47,162,091 (+)NCBI
Sequence:
RefSeq Acc Id: NR_047694
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382045,416,141 - 45,426,241 (+)NCBI
GRCh372044,044,707 - 44,054,885 (+)NCBI
HuRef2040,786,200 - 40,796,368 (+)NCBI
CHM1_12043,947,245 - 43,957,423 (+)NCBI
T2T-CHM13v2.02047,152,004 - 47,162,091 (+)NCBI
Sequence:
RefSeq Acc Id: NR_047695
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382045,416,141 - 45,426,241 (+)NCBI
GRCh372044,044,707 - 44,054,885 (+)NCBI
HuRef2040,786,200 - 40,796,368 (+)NCBI
CHM1_12043,947,245 - 43,957,423 (+)NCBI
T2T-CHM13v2.02047,152,004 - 47,162,091 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001171657 (Get FASTA)   NCBI Sequence Viewer  
  NP_001171658 (Get FASTA)   NCBI Sequence Viewer  
  NP_001171659 (Get FASTA)   NCBI Sequence Viewer  
  NP_057021 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD27715 (Get FASTA)   NCBI Sequence Viewer  
  AAH15022 (Get FASTA)   NCBI Sequence Viewer  
  AAI10893 (Get FASTA)   NCBI Sequence Viewer  
  AAI36828 (Get FASTA)   NCBI Sequence Viewer  
  AAI36829 (Get FASTA)   NCBI Sequence Viewer  
  AAK55518 (Get FASTA)   NCBI Sequence Viewer  
  AAQ88951 (Get FASTA)   NCBI Sequence Viewer  
  BAB60854 (Get FASTA)   NCBI Sequence Viewer  
  BAC11639 (Get FASTA)   NCBI Sequence Viewer  
  BAH11487 (Get FASTA)   NCBI Sequence Viewer  
  BAH11569 (Get FASTA)   NCBI Sequence Viewer  
  BAH12247 (Get FASTA)   NCBI Sequence Viewer  
  BAH12267 (Get FASTA)   NCBI Sequence Viewer  
  BAH12673 (Get FASTA)   NCBI Sequence Viewer  
  BAH12928 (Get FASTA)   NCBI Sequence Viewer  
  BAH13561 (Get FASTA)   NCBI Sequence Viewer  
  BAH13624 (Get FASTA)   NCBI Sequence Viewer  
  BAH14729 (Get FASTA)   NCBI Sequence Viewer  
  CAB57341 (Get FASTA)   NCBI Sequence Viewer  
  CAD97799 (Get FASTA)   NCBI Sequence Viewer  
  CAI72142 (Get FASTA)   NCBI Sequence Viewer  
  EAW75841 (Get FASTA)   NCBI Sequence Viewer  
  EAW75842 (Get FASTA)   NCBI Sequence Viewer  
  EAW75843 (Get FASTA)   NCBI Sequence Viewer  
  EAW75844 (Get FASTA)   NCBI Sequence Viewer  
  EAW75845 (Get FASTA)   NCBI Sequence Viewer  
  EAW75846 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000279035
  ENSP00000279035.8
  ENSP00000279036
  ENSP00000279036.6
  ENSP00000361774
  ENSP00000361774.4
  ENSP00000407574.2
  ENSP00000408354.2
  ENSP00000441577
  ENSP00000441577.1
  ENSP00000443963.3
  ENSP00000491058.1
  ENSP00000491072.1
  ENSP00000491074.1
  ENSP00000491118.1
  ENSP00000491164.1
  ENSP00000491170.1
  ENSP00000491171.1
  ENSP00000491194.1
  ENSP00000491233.1
  ENSP00000491297.1
  ENSP00000491308.1
  ENSP00000491406.1
  ENSP00000491458.1
  ENSP00000491534.1
  ENSP00000491538.1
  ENSP00000491566.1
  ENSP00000491588.1
  ENSP00000491600.1
  ENSP00000491678.2
  ENSP00000491697.1
  ENSP00000491744.1
  ENSP00000491772.1
  ENSP00000491856.2
  ENSP00000491886.1
  ENSP00000491913.1
  ENSP00000492007.1
  ENSP00000492043.2
  ENSP00000492094.2
  ENSP00000492174.1
  ENSP00000492210.1
  ENSP00000492270.1
  ENSP00000492279.1
  ENSP00000492295.1
  ENSP00000492335.1
  ENSP00000492370.1
  ENSP00000492417.1
  ENSP00000492418.1
  ENSP00000492464.1
  ENSP00000492498.1
  ENSP00000492507.1
  ENSP00000492727.1
  ENSP00000492743.1
  ENSP00000492843.1
  ENSP00000492848.1
  ENSP00000492873.1
  ENSP00000492875.1
  ENSP00000492883.1
  ENSP00000508682.1
  ENSP00000509421.1
GenBank Protein Q969N2 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_057021   ⟸   NM_015937
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9UJG6 (UniProtKB/Swiss-Prot),   Q9BQY8 (UniProtKB/Swiss-Prot),   Q9BQY7 (UniProtKB/Swiss-Prot),   Q7Z3N7 (UniProtKB/Swiss-Prot),   Q2NL69 (UniProtKB/Swiss-Prot),   G8JLF5 (UniProtKB/Swiss-Prot),   E1P622 (UniProtKB/Swiss-Prot),   B7Z7I8 (UniProtKB/Swiss-Prot),   B7Z3N1 (UniProtKB/Swiss-Prot),   B2RND5 (UniProtKB/Swiss-Prot),   Q9Y2Z5 (UniProtKB/Swiss-Prot),   Q969N2 (UniProtKB/Swiss-Prot),   A0A1W2PPR6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171657   ⟸   NM_001184728
- Peptide Label: isoform 2 precursor
- UniProtKB: A0A1W2PNP0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171658   ⟸   NM_001184729
- Peptide Label: isoform 3 precursor
- UniProtKB: A0A1W2PPR6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171659   ⟸   NM_001184730
- Peptide Label: isoform 4 precursor
- UniProtKB: A0A1W2PP53 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000491856   ⟸   ENST00000424705
RefSeq Acc Id: ENSP00000441577   ⟸   ENST00000543458
RefSeq Acc Id: ENSP00000361774   ⟸   ENST00000372689
RefSeq Acc Id: ENSP00000491553   ⟸   ENST00000638864
RefSeq Acc Id: ENSP00000491406   ⟸   ENST00000638710
RefSeq Acc Id: ENSP00000491194   ⟸   ENST00000638714
RefSeq Acc Id: ENSP00000491744   ⟸   ENST00000638745
RefSeq Acc Id: ENSP00000491458   ⟸   ENST00000638612
RefSeq Acc Id: ENSP00000492094   ⟸   ENST00000638691
RefSeq Acc Id: ENSP00000492875   ⟸   ENST00000638671
RefSeq Acc Id: ENSP00000491697   ⟸   ENST00000638594
RefSeq Acc Id: ENSP00000491566   ⟸   ENST00000638489
RefSeq Acc Id: ENSP00000491233   ⟸   ENST00000638478
RefSeq Acc Id: ENSP00000492335   ⟸   ENST00000638927
RefSeq Acc Id: ENSP00000492848   ⟸   ENST00000638953
RefSeq Acc Id: ENSP00000491171   ⟸   ENST00000638938
RefSeq Acc Id: ENSP00000492743   ⟸   ENST00000638978
RefSeq Acc Id: ENSP00000443963   ⟸   ENST00000545755
RefSeq Acc Id: ENSP00000491297   ⟸   ENST00000638445
RefSeq Acc Id: ENSP00000491913   ⟸   ENST00000638415
RefSeq Acc Id: ENSP00000491538   ⟸   ENST00000638353
RefSeq Acc Id: ENSP00000492295   ⟸   ENST00000638383
RefSeq Acc Id: ENSP00000492873   ⟸   ENST00000638387
RefSeq Acc Id: ENSP00000492883   ⟸   ENST00000638246
RefSeq Acc Id: ENSP00000491588   ⟸   ENST00000638277
RefSeq Acc Id: ENSP00000491600   ⟸   ENST00000639932
RefSeq Acc Id: ENSP00000492727   ⟸   ENST00000639984
RefSeq Acc Id: ENSP00000492843   ⟸   ENST00000639239
RefSeq Acc Id: ENSP00000492498   ⟸   ENST00000639235
RefSeq Acc Id: ENSP00000491678   ⟸   ENST00000639292
RefSeq Acc Id: ENSP00000492507   ⟸   ENST00000639286
RefSeq Acc Id: ENSP00000492210   ⟸   ENST00000639194
RefSeq Acc Id: ENSP00000491772   ⟸   ENST00000639783
RefSeq Acc Id: ENSP00000491170   ⟸   ENST00000639499
RefSeq Acc Id: ENSP00000491058   ⟸   ENST00000639417
RefSeq Acc Id: ENSP00000491534   ⟸   ENST00000639382
RefSeq Acc Id: ENSP00000407574   ⟸   ENST00000455050
RefSeq Acc Id: ENSP00000492464   ⟸   ENST00000640996
RefSeq Acc Id: ENSP00000491886   ⟸   ENST00000640986
RefSeq Acc Id: ENSP00000491164   ⟸   ENST00000640210
RefSeq Acc Id: ENSP00000492270   ⟸   ENST00000640272
RefSeq Acc Id: ENSP00000492417   ⟸   ENST00000640123
RefSeq Acc Id: ENSP00000491118   ⟸   ENST00000640107
RefSeq Acc Id: ENSP00000492007   ⟸   ENST00000640108
RefSeq Acc Id: ENSP00000492279   ⟸   ENST00000640194
RefSeq Acc Id: ENSP00000492418   ⟸   ENST00000640175
RefSeq Acc Id: ENSP00000491072   ⟸   ENST00000640666
RefSeq Acc Id: ENSP00000492370   ⟸   ENST00000640692
RefSeq Acc Id: ENSP00000492174   ⟸   ENST00000640542
RefSeq Acc Id: ENSP00000492043   ⟸   ENST00000640549
RefSeq Acc Id: ENSP00000491308   ⟸   ENST00000640585
RefSeq Acc Id: ENSP00000491074   ⟸   ENST00000640324
RefSeq Acc Id: ENSP00000408354   ⟸   ENST00000432270
RefSeq Acc Id: ENSP00000279036   ⟸   ENST00000279036
RefSeq Acc Id: ENSP00000279035   ⟸   ENST00000279035
RefSeq Acc Id: ENSP00000509421   ⟸   ENST00000692236
RefSeq Acc Id: ENSP00000508682   ⟸   ENST00000689203

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q969N2-F1-model_v2 AlphaFold Q969N2 1-578 view protein structure

Promoters
RGD ID:6798714
Promoter ID:HG_KWN:39595
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:ENST00000341555,   NM_001184728,   NM_001184729,   NM_001184730,   NM_015937,   OTTHUMT00000079435,   OTTHUMT00000079436,   UC002XOI.1,   UC002XOK.1,   UC010GHB.1,   UC010GHC.1,   UC010GHD.1,   UC010GHE.1,   UC010GHF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362043,477,906 - 43,478,406 (+)MPROMDB
RGD ID:6850982
Promoter ID:EP73286
Type:multiple initiation site
Name:HS_PIGT
Description:Phosphatidyl inositol glycan class T.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 362043,478,197 - 43,478,257EPD
RGD ID:13207075
Promoter ID:EPDNEW_H27118
Type:initiation region
Name:PIGT_1
Description:phosphatidylinositol glycan anchor biosynthesis class T
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
GRCh382045,416,141 - 45,416,201EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14938 AgrOrtholog
COSMIC PIGT COSMIC
Ensembl Genes ENSG00000124155 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000279035 ENTREZGENE
  ENST00000279035.14 UniProtKB/Swiss-Prot
  ENST00000279036 ENTREZGENE
  ENST00000279036.12 UniProtKB/Swiss-Prot
  ENST00000372689 ENTREZGENE
  ENST00000372689.9 UniProtKB/Swiss-Prot
  ENST00000424705.3 UniProtKB/TrEMBL
  ENST00000432270.2 UniProtKB/TrEMBL
  ENST00000455050 ENTREZGENE
  ENST00000455050.2 UniProtKB/TrEMBL
  ENST00000543458 ENTREZGENE
  ENST00000543458.7 UniProtKB/Swiss-Prot
  ENST00000545755.3 UniProtKB/Swiss-Prot
  ENST00000638246.1 UniProtKB/TrEMBL
  ENST00000638277.1 UniProtKB/TrEMBL
  ENST00000638353.1 UniProtKB/TrEMBL
  ENST00000638383.1 UniProtKB/TrEMBL
  ENST00000638387.1 UniProtKB/TrEMBL
  ENST00000638415.1 UniProtKB/TrEMBL
  ENST00000638445 ENTREZGENE
  ENST00000638445.1 UniProtKB/TrEMBL
  ENST00000638478.1 UniProtKB/TrEMBL
  ENST00000638489.1 UniProtKB/TrEMBL
  ENST00000638594.1 UniProtKB/TrEMBL
  ENST00000638612.1 UniProtKB/TrEMBL
  ENST00000638671 ENTREZGENE
  ENST00000638671.1 UniProtKB/TrEMBL
  ENST00000638691.2 UniProtKB/TrEMBL
  ENST00000638710.1 UniProtKB/TrEMBL
  ENST00000638714.1 UniProtKB/TrEMBL
  ENST00000638745.1 UniProtKB/TrEMBL
  ENST00000638927.1 UniProtKB/TrEMBL
  ENST00000638938.1 UniProtKB/TrEMBL
  ENST00000638953.1 UniProtKB/TrEMBL
  ENST00000638978.1 UniProtKB/TrEMBL
  ENST00000639194.1 UniProtKB/TrEMBL
  ENST00000639235.1 UniProtKB/TrEMBL
  ENST00000639239.1 UniProtKB/TrEMBL
  ENST00000639286.1 UniProtKB/TrEMBL
  ENST00000639292.2 UniProtKB/TrEMBL
  ENST00000639382.1 UniProtKB/TrEMBL
  ENST00000639417.1 UniProtKB/TrEMBL
  ENST00000639499.1 UniProtKB/TrEMBL
  ENST00000639783 ENTREZGENE
  ENST00000639783.1 UniProtKB/TrEMBL
  ENST00000639932.1 UniProtKB/TrEMBL
  ENST00000639984.1 UniProtKB/TrEMBL
  ENST00000640107.1 UniProtKB/TrEMBL
  ENST00000640108.1 UniProtKB/TrEMBL
  ENST00000640123.1 UniProtKB/TrEMBL
  ENST00000640175 ENTREZGENE
  ENST00000640175.1 UniProtKB/TrEMBL
  ENST00000640194.1 UniProtKB/TrEMBL
  ENST00000640210.1 UniProtKB/TrEMBL
  ENST00000640272.1 UniProtKB/TrEMBL
  ENST00000640324.1 UniProtKB/TrEMBL
  ENST00000640542.1 UniProtKB/TrEMBL
  ENST00000640549.2 UniProtKB/TrEMBL
  ENST00000640585.1 UniProtKB/TrEMBL
  ENST00000640666.1 UniProtKB/TrEMBL
  ENST00000640692.1 UniProtKB/TrEMBL
  ENST00000640986.1 UniProtKB/TrEMBL
  ENST00000640996.1 UniProtKB/TrEMBL
  ENST00000689203.1 UniProtKB/TrEMBL
  ENST00000692236.1 UniProtKB/TrEMBL
GTEx ENSG00000124155 GTEx
HGNC ID HGNC:14938 ENTREZGENE
Human Proteome Map PIGT Human Proteome Map
InterPro PIG-T UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51604 UniProtKB/Swiss-Prot
NCBI Gene 51604 ENTREZGENE
OMIM 610272 OMIM
PANTHER GPI TRANSAMIDASE COMPONENT PIG-T UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12959 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Gpi16 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33302 PharmGKB
UniProt A0A1W2PNP0 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PNS2_HUMAN UniProtKB/TrEMBL
  A0A1W2PNW9_HUMAN UniProtKB/TrEMBL
  A0A1W2PNZ5_HUMAN UniProtKB/TrEMBL
  A0A1W2PP03_HUMAN UniProtKB/TrEMBL
  A0A1W2PP13_HUMAN UniProtKB/TrEMBL
  A0A1W2PP53 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PP57_HUMAN UniProtKB/TrEMBL
  A0A1W2PP91_HUMAN UniProtKB/TrEMBL
  A0A1W2PP98_HUMAN UniProtKB/TrEMBL
  A0A1W2PPC3_HUMAN UniProtKB/TrEMBL
  A0A1W2PPI8_HUMAN UniProtKB/TrEMBL
  A0A1W2PPK4_HUMAN UniProtKB/TrEMBL
  A0A1W2PPQ7_HUMAN UniProtKB/TrEMBL
  A0A1W2PPR6 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PPS0_HUMAN UniProtKB/TrEMBL
  A0A1W2PPU8_HUMAN UniProtKB/TrEMBL
  A0A1W2PQ29_HUMAN UniProtKB/TrEMBL
  A0A1W2PQ50_HUMAN UniProtKB/TrEMBL
  A0A1W2PQ52_HUMAN UniProtKB/TrEMBL
  A0A1W2PQI9_HUMAN UniProtKB/TrEMBL
  A0A1W2PQL3_HUMAN UniProtKB/TrEMBL
  A0A1W2PQL9_HUMAN UniProtKB/TrEMBL
  A0A1W2PQY1_HUMAN UniProtKB/TrEMBL
  A0A1W2PR22_HUMAN UniProtKB/TrEMBL
  A0A1W2PR34_HUMAN UniProtKB/TrEMBL
  A0A1W2PR70_HUMAN UniProtKB/TrEMBL
  A0A1W2PR73_HUMAN UniProtKB/TrEMBL
  A0A1W2PR92_HUMAN UniProtKB/TrEMBL
  A0A1W2PRB4_HUMAN UniProtKB/TrEMBL
  A0A1W2PRG1_HUMAN UniProtKB/TrEMBL
  A0A1W2PRH2_HUMAN UniProtKB/TrEMBL
  A0A1W2PRH8_HUMAN UniProtKB/TrEMBL
  A0A1W2PRL6_HUMAN UniProtKB/TrEMBL
  A0A1W2PRV7_HUMAN UniProtKB/TrEMBL
  A0A1W2PRZ8_HUMAN UniProtKB/TrEMBL
  A0A1W2PSC5_HUMAN UniProtKB/TrEMBL
  B2RND5 ENTREZGENE
  B7Z3N1 ENTREZGENE
  B7Z7C5_HUMAN UniProtKB/TrEMBL
  B7Z7I8 ENTREZGENE
  E1P622 ENTREZGENE
  G8JLF5 ENTREZGENE
  H7C2Y2_HUMAN UniProtKB/TrEMBL
  PIGT_HUMAN UniProtKB/Swiss-Prot
  Q2NL69 ENTREZGENE
  Q7Z3N7 ENTREZGENE
  Q969N2 ENTREZGENE
  Q9BQY7 ENTREZGENE
  Q9BQY8 ENTREZGENE
  Q9UJG6 ENTREZGENE
  Q9Y2Z5 ENTREZGENE
UniProt Secondary A0A1W2PQA4 UniProtKB/TrEMBL
  A0A1W2PQN1 UniProtKB/TrEMBL
  B2RND5 UniProtKB/Swiss-Prot
  B7Z3N1 UniProtKB/Swiss-Prot
  B7Z7I8 UniProtKB/Swiss-Prot
  E1P622 UniProtKB/Swiss-Prot
  G8JLF5 UniProtKB/Swiss-Prot
  Q2NL69 UniProtKB/Swiss-Prot
  Q7Z3N7 UniProtKB/Swiss-Prot
  Q9BQY7 UniProtKB/Swiss-Prot
  Q9BQY8 UniProtKB/Swiss-Prot
  Q9UJG6 UniProtKB/Swiss-Prot
  Q9Y2Z5 UniProtKB/Swiss-Prot


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