GATA3 (GATA binding protein 3) - Rat Genome Database

Name: GATA3
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

Gene: GATA3 (GATA binding protein 3) Homo sapiens

Analyze

Symbol:

GATA3

Name:

GATA binding protein 3

RGD ID:

733638

HGNC Page

HGNC:4172

Description:

Enables several functions, including DNA-binding transcription factor activity, RNA polymerase II-specific; E-box binding activity; and HMG box domain binding activity. Involved in several processes, including cellular response to cytokine stimulus; negative regulation of endothelial cell apoptotic process; and regulation of gene expression. Acts upstream of or within T cell differentiation and positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. Part of chromatin. Implicated in hypoparathyroidism; hypoparathyroidism-deafness-renal disease syndrome; nephrosis; and sensorineural hearing loss. Biomarker of asthma.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

GATA-binding factor 3; gata-binding protein 3; HDR; HDRS; MGC2346; MGC5199; MGC5445; trans-acting T-cell-specific transcription factor GATA-3

RGD Orthologs

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Gata3 (GATA binding protein 3)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Gata3 (GATA binding protein 3)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Gata3 (GATA binding protein 3)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	GATA3 (GATA binding protein 3)	NCBI	Ortholog
Canis lupus familiaris (dog):	GATA3 (GATA binding protein 3)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Gata3 (GATA binding protein 3)	NCBI	Ortholog
Sus scrofa (pig):	GATA3 (GATA binding protein 3)	HGNC	Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	GATA3 (GATA binding protein 3)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Gata3 (GATA binding protein 3)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Gata3 (GATA binding protein 3)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Gata3 (GATA binding protein 3)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	gata3 (GATA binding protein 3)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	GAT1	Alliance	DIOPT (Ensembl Compara\|OrthoInspector\|PANTHER)
Caenorhabditis elegans (roundworm):	elt-1	Alliance	DIOPT (OrthoInspector\|PANTHER\|SonicParanoid)
Drosophila melanogaster (fruit fly):	grn	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	GZF3	Alliance	DIOPT (Ensembl Compara\|OrthoInspector\|PANTHER)
Xenopus laevis (African clawed frog):	gata3.S	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	gata3.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	gata3	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	10	8,045,333 - 8,075,198 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	10	8,045,378 - 8,075,198 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	10	8,096,651 - 8,117,161 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	10	8,136,673 - 8,157,170 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	10	8,136,672 - 8,157,170	NCBI
Celera	10	8,022,059 - 8,042,539 (+)	NCBI		Celera
Cytogenetic Map	10	p14	NCBI
HuRef	10	8,015,002 - 8,035,471 (+)	NCBI		HuRef
CHM1_1	10	8,096,969 - 8,117,441 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	10	8,046,004 - 8,076,094 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

acute lymphoblastic leukemia (EXP)

adult T-cell leukemia/lymphoma (EXP)

Animal Mammary Neoplasms (EXP)

asthma (IEP,ISO)

B-lymphoblastic leukemia/lymphoma (EXP)

Bronchial Hyperreactivity (ISO)

CAKUT (IAGP)

Carcinogenesis (EXP)

carcinoma (EXP)

COVID-19 (HEP)

Delayed Hypersensitivity (ISO)

end stage renal disease (EXP,IAGP)

Eosinophilia (EXP)

Experimental Mammary Neoplasms (EXP)

Gastro-Enteropancreatic Neuroendocrine Tumor (EXP)

genetic disease (IAGP)

Hearing Loss (IAGP)

Hodgkin's lymphoma (EXP)

hypoparathyroidism (IAGP)

hypoparathyroidism-deafness-renal disease syndrome (EXP,IAGP,ISS)

Inflammation (EXP)

Metaplasia (EXP)

nephrosis (IAGP)

neuroblastoma (EXP)

Neurodevelopmental Disorders (IAGP)

rheumatoid arthritis (EXP)

sensorineural hearing loss (IAGP)

Sepsis (IEP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,1-dichloroethene (ISO)

1,2-dichloroethane (ISO)

1,4-benzoquinone (ISO)

1-naphthyl isothiocyanate (ISO)

13,14-dihydro-15-ketoprostaglandin D2 (ISO)

17beta-estradiol (EXP,ISO)

2,2',4,4',5,5'-hexachlorobiphenyl (ISO)

2,2',5,5'-tetrachlorobiphenyl (ISO)

2,3,7,8-tetrachlorodibenzodioxine (EXP,ISO)

2-tert-butylhydroquinone (ISO)

4,4'-sulfonyldiphenol (ISO)

4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one (EXP)

4-hydroxynon-2-enal (EXP,ISO)

5-aza-2'-deoxycytidine (EXP)

5-chloro-7-iodoquinolin-8-ol (EXP)

6-propyl-2-thiouracil (EXP,ISO)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP)

alpha-galactosylceramide (ISO)

aluminium hydroxide (ISO)

ammonium chloride (ISO)

apigenin (ISO)

aristolochic acid A (ISO)

arsane (ISO)

arsenic atom (ISO)

arsenite(3-) (EXP)

arsenous acid (EXP)

atrazine (ISO)

belinostat (EXP)

benzalkonium chloride (ISO)

benzo[a]pyrene (EXP,ISO)

benzo[a]pyrene diol epoxide I (EXP)

benzo[b]fluoranthene (ISO)

berberine (ISO)

beta-naphthoflavone (ISO)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

bleomycin A2 (ISO)

buta-1,3-diene (ISO)

calcitriol (EXP)

carbamazepine (EXP)

carbon nanotube (ISO)

chlordecone (ISO)

chloroprene (ISO)

chlorpyrifos (ISO)

choline (ISO)

chrysin (ISO)

cisplatin (EXP)

cobalt dichloride (ISO)

coumestrol (EXP)

cyclophosphamide (ISO)

decabromodiphenyl ether (ISO)

dexamethasone (ISO)

diarsenic trioxide (EXP)

diazinon (ISO)

dibutyl phthalate (ISO)

diethylstilbestrol (ISO)

disodium selenite (EXP)

diuron (ISO)

dorsomorphin (EXP)

endosulfan (ISO)

entinostat (EXP)

ethanol (ISO)

ethyl 3,4-dihydroxybenzoate (ISO)

flutamide (ISO)

folic acid (ISO)

fragrance (EXP)

gamma-hexachlorocyclohexane (EXP)

gemfibrozil (ISO)

gentamycin (ISO)

hydrogen peroxide (EXP)

ibuprofen (ISO)

ionomycin (ISO)

irinotecan (EXP)

isotretinoin (EXP)

ketoconazole (ISO)

L-methionine (ISO)

lead diacetate (ISO)

levamisole (ISO)

Licochalcone B (EXP)

Mecamylamine (EXP)

mercury dibromide (EXP)

methimazole (ISO)

methotrexate (EXP)

methylisothiazolinone (EXP)

methylmercury chloride (EXP)

monocrotaline (EXP)

Morroniside (ISO)

N'-Nitrosonornicotine (EXP)

N-methyl-4-phenylpyridinium (ISO)

N-nitrosodiethylamine (ISO)

nickel atom (EXP)

Nonylphenol (ISO)

oxaliplatin (ISO)

ozone (EXP,ISO)

p-chloromercuribenzoic acid (EXP)

panobinostat (EXP)

paracetamol (ISO)

paraquat (ISO)

PCB138 (ISO)

perfluorohexanesulfonic acid (ISO)

phenylmercury acetate (EXP)

phenytoin (ISO)

phorbol 13-acetate 12-myristate (ISO)

pirinixic acid (ISO)

potassium chloride (ISO)

remdesivir (ISO)

resveratrol (ISO)

rofecoxib (EXP)

S-butyl-DL-homocysteine (S,R)-sulfoximine (ISO)

SB 431542 (EXP)

sodium arsenite (EXP,ISO)

SR 144528 (ISO)

tacrine (ISO)

tamoxifen (EXP,ISO)

testosterone (ISO)

thalidomide (ISO)

thioacetamide (ISO)

titanium dioxide (ISO)

toluene (ISO)

topotecan (ISO)

Tributyltin oxide (ISO)

trichostatin A (EXP)

triclosan (EXP)

trimellitic anhydride (ISO)

troglitazone (EXP)

valproic acid (EXP,ISO)

vinclozolin (ISO)

vorinostat (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

anatomical structure formation involved in morphogenesis (IEA,ISO,ISS)

anatomical structure morphogenesis (IEA,TAS)

aortic valve morphogenesis (IEA,ISS)

axon guidance (IEA,ISO)

canonical Wnt signaling pathway (IEA,ISS)

cardiac right ventricle morphogenesis (IEA,ISS)

cartilage development (IEA)

cell activation (IEA,ISO)

cell differentiation (IEA)

cell fate commitment (IBA)

cell fate determination (IEA,ISO,ISS)

cell maturation (IEA,ISO)

cell morphogenesis (IEA,ISO)

cell population proliferation (IEA,ISO)

cellular response to BMP stimulus (IEA,ISO)

cellular response to cytokine stimulus (IEA,ISO)

cellular response to interferon-alpha (IEP)

cellular response to interleukin-4 (IEA,IEP,ISO)

cellular response to tumor necrosis factor (IEP)

chromatin remodeling (IEA,ISO)

cochlea development (ISO)

defense response (TAS)

developmental growth (IEA,ISO)

ear development (IMP)

embryonic hemopoiesis (IEA,ISO)

embryonic organ development (IBA,IEA,ISO)

erythrocyte differentiation (IEA,ISO)

gene expression (IEA)

homeostasis of number of cells (IEA,ISO)

humoral immune response (IEA,ISO)

immune system development (IBA)

in utero embryonic development (IEA,ISO)

inflammatory response (IEA,ISS)

innate immune response (IEA)

inner ear morphogenesis (IEA,ISO)

kidney development (IMP)

lens development in camera-type eye (IEA,ISO)

lymphocyte migration (IDA)

macrophage differentiation (IEA,ISS)

male gonad development (IEA,ISS)

mast cell differentiation (IEA,ISO)

mesenchymal to epithelial transition (IDA)

mesonephros development (IEA,ISO,ISS)

negative regulation of cell cycle (IEA,IMP,ISO)

negative regulation of cell motility (IMP)

negative regulation of cell population proliferation (IEA,ISO,ISS)

negative regulation of cell proliferation involved in mesonephros development (IEA,ISS)

negative regulation of DNA demethylation (IEA,ISO)

negative regulation of DNA-templated transcription (IMP)

negative regulation of endothelial cell apoptotic process (IMP)

negative regulation of epithelial to mesenchymal transition (IMP)

negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (IEA,ISS)

negative regulation of gene expression (IEA,ISO)

negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (IEA,ISS)

negative regulation of inflammatory response (IMP)

negative regulation of interleukin-2 production (IEA,ISO)

negative regulation of mammary gland epithelial cell proliferation (IDA)

negative regulation of transcription by RNA polymerase II (IBA,IEA,ISO)

negative regulation of type II interferon production (IEA,ISO)

nephric duct formation (IEA,ISS)

nephric duct morphogenesis (IEA,ISS)

nervous system development (IEA,ISO)

neuron differentiation (IEA,ISO)

neuron migration (IEA,ISO)

norepinephrine biosynthetic process (IEA,ISO,ISS)

otic vesicle development (IEA,ISO)

parathyroid gland development (IEA,ISO)

parathyroid hormone secretion (IEA,ISO)

pharyngeal system development (IEA,ISS)

phosphatidylinositol 3-kinase/protein kinase B signal transduction (IEA,ISS)

positive regulation of cell differentiation (IEA,ISO)

positive regulation of cytokine production (IEA,ISO)

positive regulation of DNA-templated transcription (IDA,IEA,IMP,ISO,ISS)

positive regulation of endothelial cell migration (IMP)

positive regulation of gene expression (IEA,ISO)

positive regulation of interleukin-13 production (IDA,IEA,IMP,ISO)

positive regulation of interleukin-4 production (IEA,ISO,ISS)

positive regulation of interleukin-5 production (IDA,IEA,ISO)

positive regulation of miRNA transcription (IDA)

positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (IMP)

positive regulation of signal transduction (IMP)

positive regulation of T cell differentiation (IEA,ISS)

positive regulation of T-helper 2 cell cytokine production (IEA,ISO)

positive regulation of thyroid hormone generation (IMP)

positive regulation of transcription by RNA polymerase II (IBA,IDA,IEA,IMP,ISO,ISS)

positive regulation of ureteric bud formation (IEA,ISS)

post-embryonic development (IEA,ISO)

pro-T cell differentiation (IEA,ISO)

regulation of cellular response to X-ray (IMP)

regulation of cytokine production (IEA,ISO,ISS)

regulation of epithelial cell differentiation (IBA)

regulation of establishment of cell polarity (IEA,ISO)

regulation of nephron tubule epithelial cell differentiation (IEA,ISS)

regulation of neuron apoptotic process (IEA,ISO)

regulation of neuron projection development (IEA,ISO)

regulation of T-helper cell differentiation (IEA,ISO)

regulation of transcription by RNA polymerase II (IEA,ISO)

response to estrogen (IEP)

response to ethanol (ISO)

response to gamma radiation (ISO)

response to virus (IEP)

response to xenobiotic stimulus (ISO)

signal transduction (IEA,ISS)

sympathetic nervous system development (IEA,ISO,ISS)

system development (IEA)

T cell differentiation (IDA,IEA)

T cell differentiation in thymus (IEA,ISO)

T cell receptor signaling pathway (IEA,ISS)

T-helper 2 cell differentiation (IDA,IEA,ISO)

thymic T cell selection (IEA,ISO)

thymus development (IEA,ISO)

TOR signaling (IEA,ISS)

transcription by RNA polymerase II (IEA,ISO)

type IV hypersensitivity (ISO)

ureter maturation (IEA,ISO)

ureter morphogenesis (IEA,ISO)

ureteric bud formation (IEA,ISS)

uterus development (IEA,ISS)

ventricular septum development (IEA,ISS)

Cellular Component

chromatin (IDA,ISA)

nucleoplasm (IDA,IEA,TAS)

nucleus (IBA,IDA,IEA)

Molecular Function

cis-regulatory region sequence-specific DNA binding (IDA,IEA)

DNA binding (IEA,TAS)

DNA-binding transcription activator activity, RNA polymerase II-specific (IDA,IEA)

DNA-binding transcription factor activity (IDA,IEA,IMP,ISO,TAS)

DNA-binding transcription factor activity, RNA polymerase II-specific (IBA,IDA,IEA,ISA)

DNA-binding transcription repressor activity, RNA polymerase II-specific (IMP)

E-box binding (IDA)

histone methyltransferase binding (ISO)

HMG box domain binding (IPI)

identical protein binding (IEA)

interleukin-2 receptor binding (IEA)

metal ion binding (IEA)

protein binding (IPI)

RNA polymerase II cis-regulatory region sequence-specific DNA binding (IBA,IDA,IEA)

RNA polymerase II transcription regulatory region sequence-specific DNA binding (IEA)

RNA polymerase II-specific DNA-binding transcription factor binding (IPI)

sequence-specific DNA binding (IEA,ISO)

sequence-specific double-stranded DNA binding (IDA)

transcription cis-regulatory region binding (IDA)

transcription coactivator binding (IEA)

zinc ion binding (IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

interleukin-27 signaling pathway (EXP)

Notch signaling pathway (EXP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal heart morphology (IAGP)

Abnormality of T cell physiology (IAGP)

Aplasia of the uterus (IAGP)

Aplasia of the vagina (IAGP)

Autosomal dominant inheritance (IAGP)

Basal ganglia calcification (IAGP)

Chronic kidney disease (IAGP)

Cleft palate (IAGP)

Congenital onset (IAGP)

Diabetes mellitus (IAGP)

Distal renal tubular acidosis (IAGP)

Hearing impairment (IAGP)

Hematuria (IAGP)

Horizontal nystagmus (IAGP)

Hydronephrosis (IAGP)

Hypocalcemia (IAGP)

Hypocalcemic seizures (IAGP)

Hypoparathyroidism (IAGP)

Nephrocalcinosis (IAGP)

Nephrotic syndrome (IAGP)

Parathyroid hypoplasia (IAGP)

Polycystic kidney dysplasia (IAGP)

Primary amenorrhea (IAGP)

Progressive sensorineural hearing impairment (IAGP)

Proteinuria (IAGP)

Proximal renal tubular acidosis (IAGP)

Pseudopapilledema (IAGP)

Psoriasiform dermatitis (IAGP)

Ptosis (IAGP)

Renal dysplasia (IAGP)

Renal insufficiency (IAGP)

Rod-cone dystrophy (IAGP)

Sensorineural hearing impairment (IAGP)

Septate vagina (IAGP)

Severe postnatal growth retardation (IAGP)

Stage 5 chronic kidney disease (IAGP)

Tetany (IAGP)

Thickened glomerular basement membrane (IAGP)

Unilateral renal agenesis (IAGP)

Unilateral renal dysplasia (IAGP)

Uterus didelphys (IAGP)

Vaginal atresia (IAGP)

Vesicoureteral reflux (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Maternal Endotoxin Exposure Attenuate Allergic Airway Disease in Infant Rats.	Cao L, etal., Am J Physiol Lung Cell Mol Physiol. 2010 Jan 29.
2.	GATA-3 expression in the development of anterior chamber associated immune deviation.	Fu T, etal., Chin Med J (Engl). 2005 Dec 5;118(23):2000-4.
3.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
4.	Alterations of T helper lymphocyte subpopulations in sepsis, severe sepsis, and septic shock: a prospective observational study.	Li J, etal., Inflammation. 2015;38(3):995-1002. doi: 10.1007/s10753-014-0063-3.
5.	Gene expression of the GATA-3 transcription factor is increased in atopic asthma.	Nakamura Y, etal., J Allergy Clin Immunol. 1999 Feb;103(2 Pt 1):215-22.
6.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
7.	Online Mendelian Inheritance in Man, OMIM (TM).	Online Mendelian Inheritance in Man, OMIM (TM).
8.	PID Annotation Import Pipeline	Pipeline to import Pathway Interaction Database annotations from NCI into RGD
9.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
11.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
12.	GATA3 haplo-insufficiency causes human HDR syndrome.	Van Esch H, etal., Nature 2000 Jul 27;406(6794):419-22.
13.	Effect and mechanism of ligustrazine on Th1/Th2 cytokines in a rat asthma model.	Xiong L, etal., Am J Chin Med. 2007;35(6):1011-20.
14.	Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients.	Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.

Additional References at PubMed

PMID:1827068	PMID:1871134	PMID:2017177	PMID:2050118	PMID:7592673	PMID:8088776	PMID:9020185	PMID:9819382	PMID:10037815	PMID:10212281	PMID:10364157	PMID:11076863
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PMID:19094228	PMID:19170196	PMID:19189213	PMID:19232384	PMID:19247692	PMID:19248112	PMID:19248180	PMID:19253381	PMID:19258923	PMID:19261198	PMID:19274049	PMID:19336263
PMID:19342088	PMID:19346497	PMID:19411068	PMID:19452711	PMID:19473628	PMID:19483726	PMID:19549328	PMID:19559773	PMID:19615257	PMID:19625176	PMID:19639723	PMID:19674970
PMID:19692168	PMID:19719829	PMID:19723756	PMID:19728080	PMID:19735555	PMID:19798694	PMID:19805038	PMID:19861286	PMID:19946260	PMID:20130088	PMID:20154722	PMID:20189993
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PMID:23172872	PMID:23203342	PMID:23266442	PMID:23291697	PMID:23308012	PMID:23354167	PMID:23375642	PMID:23395819	PMID:23403292	PMID:23413906	PMID:23428429	PMID:23430443
PMID:23435732	PMID:23446338	PMID:23453625	PMID:23549873	PMID:23577196	PMID:23599157	PMID:23604756	PMID:23715162	PMID:23817569	PMID:23906664	PMID:23939152	PMID:23958551
PMID:23996088	PMID:24061521	PMID:24068962	PMID:24121175	PMID:24124001	PMID:24134931	PMID:24141364	PMID:24145643	PMID:24149102	PMID:24235142	PMID:24235972	PMID:24315206
PMID:24327562	PMID:24338248	PMID:24346062	PMID:24363163	PMID:24390342	PMID:24415069	PMID:24421220	PMID:24434941	PMID:24448324	PMID:24477928	PMID:24504018	PMID:24512009
PMID:24549642	PMID:24614117	PMID:24622013	PMID:24660543	PMID:24711443	PMID:24713735	PMID:24737748	PMID:24743840	PMID:24745616	PMID:24758297	PMID:24766459	PMID:24813204
PMID:24820417	PMID:24824028	PMID:24894987	PMID:24920014	PMID:24925221	PMID:24926087	PMID:25124981	PMID:25150746	PMID:25188865	PMID:25258321	PMID:25292313	PMID:25351211
PMID:25410484	PMID:25416956	PMID:25425335	PMID:25552913	PMID:25575062	PMID:25611245	PMID:25651379	PMID:25753145	PMID:25771973	PMID:25851711	PMID:25855136	PMID:25873156
PMID:25901741	PMID:25906123	PMID:25910212	PMID:25917456	PMID:26028330	PMID:26135559	PMID:26274030	PMID:26276775	PMID:26313026	PMID:26447897	PMID:26451614	PMID:26486740
PMID:26514990	PMID:26527523	PMID:26595821	PMID:26627546	PMID:26637396	PMID:26719157	PMID:26772397	PMID:26807920	PMID:26871637	PMID:26890586	PMID:26899996	PMID:26922637
PMID:26970513	PMID:27018307	PMID:27036044	PMID:27041579	PMID:27048872	PMID:27053161	PMID:27067807	PMID:27082299	PMID:27097544	PMID:27151990	PMID:27184484	PMID:27237631
PMID:27249072	PMID:27251160	PMID:27267060	PMID:27354564	PMID:27387476	PMID:27528231	PMID:27533071	PMID:27543853	PMID:27556500	PMID:27588951	PMID:27589565	PMID:27594510
PMID:27684731	PMID:27780854	PMID:27924948	PMID:27926873	PMID:28038704	PMID:28211079	PMID:28215639	PMID:28258171	PMID:28263977	PMID:28278322	PMID:28282036	PMID:28291125
PMID:28303854	PMID:28316088	PMID:28319113	PMID:28322854	PMID:28323779	PMID:28374498	PMID:28378055	PMID:28378334	PMID:28394898	PMID:28423734	PMID:28428106	PMID:28428285
PMID:28473536	PMID:28481869	PMID:28509479	PMID:28514748	PMID:28551327	PMID:28581515	PMID:28582342	PMID:28614770	PMID:28656603	PMID:28693610	PMID:28703335	PMID:28705707
PMID:28722108	PMID:28765327	PMID:28877074	PMID:28928464	PMID:28965624	PMID:28976719	PMID:29088218	PMID:29116378	PMID:29180619	PMID:29235613	PMID:29340880	PMID:29358704
PMID:29374572	PMID:29431200	PMID:29453984	PMID:29535312	PMID:29629946	PMID:29844126	PMID:29902578	PMID:29969451	PMID:29987050	PMID:30006927	PMID:30013989	PMID:30044774
PMID:30061207	PMID:30148742	PMID:30251680	PMID:30301440	PMID:30365045	PMID:30396722	PMID:30420860	PMID:30463912	PMID:30468800	PMID:30552067	PMID:30591105	PMID:30614205
PMID:30859636	PMID:30867811	PMID:30868892	PMID:30872657	PMID:30949172	PMID:30971548	PMID:31020542	PMID:31033498	PMID:31075138	PMID:31107186	PMID:31152121	PMID:31238969
PMID:31256192	PMID:31391242	PMID:31405951	PMID:31409898	PMID:31424658	PMID:31469885	PMID:31492753	PMID:31519704	PMID:31588232	PMID:31636361	PMID:31685800	PMID:31690668
PMID:31718619	PMID:31754326	PMID:31831043	PMID:31831790	PMID:31856612	PMID:31856849	PMID:31911546	PMID:31935430	PMID:32193825	PMID:32232341	PMID:32296183	PMID:32302522
PMID:32439362	PMID:32442337	PMID:32472715	PMID:32538432	PMID:32587399	PMID:32687248	PMID:32737715	PMID:32769351	PMID:32769430	PMID:32814053	PMID:32888937	PMID:32894760
PMID:32938228	PMID:32988889	PMID:32991930	PMID:33040251	PMID:33275800	PMID:33298139	PMID:33382535	PMID:33420376	PMID:33462316	PMID:33501493	PMID:33566340	PMID:33570661
PMID:33571371	PMID:33604757	PMID:33791299	PMID:33887302	PMID:34026424	PMID:34057115	PMID:34099719	PMID:34117603	PMID:34120367	PMID:34225008	PMID:34344074	PMID:34354706
PMID:34432264	PMID:34459144	PMID:34537772	PMID:34591612	PMID:34680134	PMID:34690921	PMID:34815386	PMID:34864659	PMID:34979772	PMID:35013218	PMID:35039449	PMID:35115686
PMID:35131666	PMID:35140242	PMID:35388661	PMID:35413381	PMID:35503256	PMID:35510955	PMID:35673726	PMID:35806269	PMID:35819319	PMID:35926808	PMID:35993027	PMID:36058260
PMID:36129980	PMID:36149748	PMID:36152841	PMID:36252018	PMID:36320040	PMID:36463230	PMID:36649695	PMID:36806146	PMID:36821040	PMID:36946049	PMID:36952466	PMID:36990085
PMID:37036735	PMID:37074839	PMID:37096814	PMID:37230023	PMID:37353480	PMID:37578068	PMID:37726118	PMID:37779309	PMID:37965687	PMID:38173189	PMID:38224134	PMID:38317241

Genomics

Comparative Map Data

GATA3
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	10	8,045,333 - 8,075,198 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	10	8,045,378 - 8,075,198 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	10	8,096,651 - 8,117,161 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	10	8,136,673 - 8,157,170 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	10	8,136,672 - 8,157,170	NCBI
Celera	10	8,022,059 - 8,042,539 (+)	NCBI		Celera
Cytogenetic Map	10	p14	NCBI
HuRef	10	8,015,002 - 8,035,471 (+)	NCBI		HuRef
CHM1_1	10	8,096,969 - 8,117,441 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	10	8,046,004 - 8,076,094 (+)	NCBI		T2T-CHM13v2.0

Gata3
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	9,861,889 - 9,894,845 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	9,861,889 - 9,894,845 (-)	Ensembl		GRCm39 Ensembl
GRCm38	2	9,857,078 - 9,887,953 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	9,857,078 - 9,890,034 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	9,778,705 - 9,800,227 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	9,774,931 - 9,795,629 (-)	NCBI		MGSCv36	mm8
Celera	2	9,794,542 - 9,816,062 (-)	NCBI		Celera
Cytogenetic Map	2	A1	NCBI
cM Map	2	6.69	NCBI

Gata3
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	17	73,544,234 - 73,575,670 (+)	NCBI		GRCr8
mRatBN7.2	17	68,643,760 - 68,666,000 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	17	68,643,873 - 68,665,391 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	17	72,127,538 - 72,146,576 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	17	75,956,280 - 75,975,318 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	17	69,999,324 - 70,018,364 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	17	72,419,752 - 72,452,043 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	17	72,429,618 - 72,450,681 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	17	74,114,785 - 74,137,119 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	17	79,991,587 - 80,011,574 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	17	80,002,419 - 80,022,407 (+)	NCBI
Celera	17	68,131,695 - 68,151,337 (+)	NCBI		Celera
Cytogenetic Map	17	q12.3	NCBI

Gata3
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955421	24,457,496 - 24,478,744 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955421	24,448,446 - 24,477,885 (+)	NCBI	ChiLan1.0	ChiLan1.0

GATA3
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	8	20,603,369 - 20,624,430 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	10	20,608,666 - 20,629,453 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	10	8,075,951 - 8,105,573 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	10	8,055,853 - 8,086,271 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	10	8,064,207 - 8,086,272 (+)	Ensembl	panpan1.1		panPan2

GATA3
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	2	28,068,143 - 28,098,445 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	2	28,069,051 - 28,087,760 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	2	25,104,703 - 25,134,953 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	2	28,443,699 - 28,464,623 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	2	28,444,605 - 28,465,652 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	2	25,552,826 - 25,583,058 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	2	26,396,168 - 26,425,115 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	2	27,112,635 - 27,142,926 (-)	NCBI		UU_Cfam_GSD_1.0

Gata3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024409344	30,614,585 - 30,645,254 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936484	6,780,692 - 6,800,966 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936484	6,780,692 - 6,800,883 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

GATA3
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	10	63,367,663 - 63,388,859 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	10	63,367,684 - 63,397,977 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	10	69,582,743 - 69,601,480 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

GATA3
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	9	8,101,404 - 8,122,762 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	9	8,101,432 - 8,123,064 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666051	13,489,149 - 13,518,902 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Gata3
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624775	2,994,164 - 3,015,392 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624775	2,985,077 - 3,014,567 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in GATA3
284 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_001002295.2(GATA3):c.108_109del (p.Met36fs)	deletion	Hypoparathyroidism, deafness, renal disease syndrome [RCV000022538]	Chr10:8055763..8055764 [GRCh38] Chr10:8097726..8097727 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.1025G>A (p.Cys342Tyr)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000022539]	Chr10:8069573 [GRCh38] Chr10:8111536 [GRCh37] Chr10:10p14	pathogenic
GATA3, 900-KB DEL	deletion	Hypoparathyroidism, deafness, renal disease syndrome [RCV000018098]	Chr10:10p15	pathogenic
GATA3, 250-KB DEL	deletion	Hypoparathyroidism, deafness, renal disease syndrome [RCV000018099]	Chr10:10p15	pathogenic
NM_001002295.2(GATA3):c.465_513del (p.Thr156fs)	deletion	Hypoparathyroidism, deafness, renal disease syndrome [RCV000018100]	Chr10:8058527..8058575 [GRCh38] Chr10:8100490..8100538 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.947_958del (p.Thr316_Ala319del)	deletion	Hypoparathyroidism, deafness, renal disease syndrome [RCV000018101]	Chr10:8069493..8069504 [GRCh38] Chr10:8111456..8111467 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.829C>T (p.Arg277Ter)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000018102]\|not provided [RCV003556041]	Chr10:8064043 [GRCh38] Chr10:8106006 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.823T>A (p.Trp275Arg)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000018103]	Chr10:8064037 [GRCh38] Chr10:8106000 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.901delinsAACCCT (p.Leu301fs)	indel	Hypoparathyroidism, deafness, renal disease syndrome [RCV000018104]	Chr10:8064115 [GRCh38] Chr10:8106078 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.1099C>T (p.Arg367Ter)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000018105]\|not provided [RCV000760379]	Chr10:8073787 [GRCh38] Chr10:8115750 [GRCh37] Chr10:10p14	pathogenic\|likely pathogenic
NM_001002295.2(GATA3):c.431del (p.Gly144fs)	deletion	Hypoparathyroidism, deafness, renal disease syndrome [RCV000018106]	Chr10:8058489 [GRCh38] Chr10:8100452 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.478del (p.Asp160fs)	deletion	Hypoparathyroidism, deafness, renal disease syndrome [RCV000018107]	Chr10:8058540 [GRCh38] Chr10:8100503 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.924+2delinsGCTTACTTCCC	indel	Hypoparathyroidism, deafness, renal disease syndrome [RCV000018108]	Chr10:8064140 [GRCh38] Chr10:8106103 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.1059A>T (p.Arg353Ser)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000018109]	Chr10:8073747 [GRCh38] Chr10:8115710 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.28T>G (p.Trp10Gly)	single nucleotide variant	not provided [RCV001571398]	Chr10:8055683 [GRCh38] Chr10:8097646 [GRCh37] Chr10:10p14	uncertain significance
GRCh38/hg38 10p15.3-14(chr10:90421-8442783)x3	copy number gain	See cases [RCV000051107]	Chr10:90421..8442783 [GRCh38] Chr10:224406..8484746 [GRCh37] Chr10:126361..8524752 [NCBI36] Chr10:10p15.3-14	pathogenic
GRCh38/hg38 10p15.3-13(chr10:90421-15569528)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052496]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052496]\|See cases [RCV000052496]	Chr10:90421..15569528 [GRCh38] Chr10:224406..15611527 [GRCh37] Chr10:126361..15651533 [NCBI36] Chr10:10p15.3-13	pathogenic
GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	copy number loss	See cases [RCV000052500]	Chr10:4802753..16823491 [GRCh38] Chr10:4844945..16865490 [GRCh37] Chr10:4834945..16905496 [NCBI36] Chr10:10p15.1-13	pathogenic
GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	copy number gain	See cases [RCV000053507]	Chr10:69261..19184047 [GRCh38] Chr10:224406..19472976 [GRCh37] Chr10:105201..19512982 [NCBI36] Chr10:10p15.3-12.31	pathogenic
GRCh38/hg38 10p15.3-12.2(chr10:90221-22567425)x3	copy number gain	See cases [RCV000053508]	Chr10:90221..22567425 [GRCh38] Chr10:224406..22856354 [GRCh37] Chr10:126161..22896360 [NCBI36] Chr10:10p15.3-12.2	pathogenic
GRCh38/hg38 10p15.3-12.1(chr10:90421-29058318)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]\|See cases [RCV000053512]	Chr10:90421..29058318 [GRCh38] Chr10:224406..29347247 [GRCh37] Chr10:126361..29387253 [NCBI36] Chr10:10p15.3-12.1	pathogenic
NM_001002295.2(GATA3):c.448C>A (p.Leu150Ile)	single nucleotide variant	not provided [RCV002515871]\|not specified [RCV000121151]	Chr10:8058511 [GRCh38] Chr10:8100474 [GRCh37] Chr10:10p14	uncertain significance\|not provided
NM_001002295.2(GATA3):c.737G>C (p.Gly246Ala)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV001106312]\|not provided [RCV000873280]\|not specified [RCV000121152]	Chr10:8058800 [GRCh38] Chr10:8100763 [GRCh37] Chr10:10p14	benign\|likely benign\|not provided
NM_001002295.2(GATA3):c.1186G>A (p.Ala396Thr)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV001108532]\|not provided [RCV002225381]\|not specified [RCV000121153]	Chr10:8073874 [GRCh38] Chr10:8115837 [GRCh37] Chr10:10p14	benign\|likely benign\|not provided
NM_001002295.2(GATA3):c.925-16C>T	single nucleotide variant	Neoplasm of ovary [RCV000119362]	Chr10:8069457 [GRCh38] Chr10:8111420 [GRCh37] Chr10:10p14	not provided
NM_001002295.2(GATA3):c.1032C>T (p.Leu344=)	single nucleotide variant	Familial cancer of breast [RCV000119363]	Chr10:8069580 [GRCh38] Chr10:8111543 [GRCh37] Chr10:10p14	not provided
NM_001002295.1:c.1482-5C>T	single nucleotide variant	Familial cancer of breast [RCV000119364]	Chr10:10p14	not provided
GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	copy number gain	See cases [RCV000135340]	Chr10:73856..12815915 [GRCh38] Chr10:119796..12857914 [GRCh37] Chr10:109796..12897920 [NCBI36] Chr10:10p15.3-13	pathogenic
GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3	copy number gain	See cases [RCV000135533]	Chr10:90421..11713049 [GRCh38] Chr10:224406..11755048 [GRCh37] Chr10:126361..11795054 [NCBI36] Chr10:10p15.3-14	pathogenic\|uncertain significance
GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	copy number loss	See cases [RCV000137307]	Chr10:7428770..21587752 [GRCh38] Chr10:7470732..21876681 [GRCh37] Chr10:7510738..21916687 [NCBI36] Chr10:10p14-12.31	pathogenic\|uncertain significance
GRCh38/hg38 10p15.3-13(chr10:70478-15373336)x3	copy number gain	See cases [RCV000137384]	Chr10:70478..15373336 [GRCh38] Chr10:224406..15415335 [GRCh37] Chr10:106418..15455341 [NCBI36] Chr10:10p15.3-13	uncertain significance
GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	copy number gain	See cases [RCV000138428]	Chr10:90205..26339978 [GRCh38] Chr10:224406..26628907 [GRCh37] Chr10:126145..26668913 [NCBI36] Chr10:10p15.3-12.1	pathogenic
GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	copy number loss	See cases [RCV000138960]	Chr10:70478..13736564 [GRCh38] Chr10:224406..13778564 [GRCh37] Chr10:106418..13818570 [NCBI36] Chr10:10p15.3-13	pathogenic
GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	copy number gain	See cases [RCV000141497]	Chr10:4604734..48074662 [GRCh38] Chr10:4646926..47531169 [GRCh37] Chr10:4636926..47125152 [NCBI36] Chr10:10p15.1-q11.22	benign
GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	copy number gain	See cases [RCV000142292]	Chr10:54086..13205916 [GRCh38] Chr10:100026..13247916 [GRCh37] Chr10:90026..13287922 [NCBI36] Chr10:10p15.3-13	pathogenic
GRCh38/hg38 10p15.3-14(chr10:1601172-9203729)x3	copy number gain	See cases [RCV000142241]	Chr10:1601172..9203729 [GRCh38] Chr10:1643367..9245692 [GRCh37] Chr10:1633367..9285698 [NCBI36] Chr10:10p15.3-14	likely pathogenic
GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	copy number loss	See cases [RCV000143703]	Chr10:54086..19336980 [GRCh38] Chr10:100026..19625909 [GRCh37] Chr10:90026..19665915 [NCBI36] Chr10:10p15.3-12.31	pathogenic\|likely pathogenic
GRCh37/hg19 10p15.3-14(chr10:2593113-8484746)x1	copy number loss	See cases [RCV000239795]	Chr10:2593113..8484746 [GRCh37] Chr10:10p15.3-14	pathogenic
NM_001002295.2(GATA3):c.681_682insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC (p.Glu228fs)	insertion	Hypoparathyroidism, deafness, renal disease syndrome [RCV000225007]	Chr10:8058727..8058728 [GRCh38] Chr10:8100690..8100691 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.681dup (p.Glu228fs)	duplication	not provided [RCV000316770]	Chr10:8058741..8058742 [GRCh38] Chr10:8100704..8100705 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.1257G>A (p.Thr419=)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000343699]\|not provided [RCV002057407]\|not specified [RCV000243568]	Chr10:8073945 [GRCh38] Chr10:8115908 [GRCh37] Chr10:10p14	benign\|likely benign
NM_001002295.2(GATA3):c.606T>C (p.Arg202=)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000373472]\|not provided [RCV002057408]\|not specified [RCV000249336]	Chr10:8058669 [GRCh38] Chr10:8100632 [GRCh37] Chr10:10p14	benign
NM_001002295.2(GATA3):c.621C>T (p.Ala207=)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000281804]\|not provided [RCV002057409]\|not specified [RCV000254316]	Chr10:8058684 [GRCh38] Chr10:8100647 [GRCh37] Chr10:10p14	benign
NM_001002295.2(GATA3):c.216G>T (p.Val72=)	single nucleotide variant	GATA3-related condition [RCV003940139]\|Hypoparathyroidism, deafness, renal disease syndrome [RCV000322130]\|not provided [RCV001549549]\|not specified [RCV001288970]	Chr10:8055871 [GRCh38] Chr10:8097834 [GRCh37] Chr10:10p14	benign\|likely benign
NM_001002295.2(GATA3):c.1179C>T (p.Asn393=)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000395824]\|not provided [RCV000876221]	Chr10:8073867 [GRCh38] Chr10:8115830 [GRCh37] Chr10:10p14	benign\|likely benign
NM_001002295.2(GATA3):c.480C>G (p.Asp160Glu)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000268412]\|not provided [RCV001859788]	Chr10:8058543 [GRCh38] Chr10:8100506 [GRCh37] Chr10:10p14	benign\|likely benign\|uncertain significance
NM_001002295.2(GATA3):c.*798G>A	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000346135]	Chr10:8074821 [GRCh38] Chr10:8116784 [GRCh37] Chr10:10p14	benign\|likely benign
NM_001002295.2(GATA3):c.-58C>T	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000370152]\|not provided [RCV000843609]	Chr10:8055598 [GRCh38] Chr10:8097561 [GRCh37] Chr10:10p14	benign
NM_001002295.2(GATA3):c.573C>T (p.Pro191=)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000323502]\|not provided [RCV000870525]\|not specified [RCV000602359]	Chr10:8058636 [GRCh38] Chr10:8100599 [GRCh37] Chr10:10p14	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001002295.2(GATA3):c.-69G>A	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000398979]	Chr10:8055587 [GRCh38] Chr10:8097550 [GRCh37] Chr10:10p14	benign\|likely benign
NM_001002295.2(GATA3):c.*1066C>T	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000305094]	Chr10:8075089 [GRCh38] Chr10:8117052 [GRCh37] Chr10:10p14	benign
NM_001002295.2(GATA3):c.*1029C>T	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000399611]	Chr10:8075052 [GRCh38] Chr10:8117015 [GRCh37] Chr10:10p14	likely benign\|uncertain significance
NM_001002295.2(GATA3):c.-251G>A	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000399797]\|not provided [RCV001672433]	Chr10:8055405 [GRCh38] Chr10:8097368 [GRCh37] Chr10:10p14	benign
NM_001002295.2(GATA3):c.72G>A (p.Pro24=)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000271681]	Chr10:8055727 [GRCh38] Chr10:8097690 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.1223C>T (p.Ser408Leu)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000288694]\|not provided [RCV002522169]	Chr10:8073911 [GRCh38] Chr10:8115874 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.*746C>T	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000288951]	Chr10:8074769 [GRCh38] Chr10:8116732 [GRCh37] Chr10:10p14	likely benign\|uncertain significance
NM_001002295.2(GATA3):c.*265dup	duplication	Hypoparathyroidism, deafness, renal disease syndrome [RCV000305598]\|not provided [RCV001534739]	Chr10:8074278..8074279 [GRCh38] Chr10:8116241..8116242 [GRCh37] Chr10:10p14	benign\|uncertain significance
NM_001002295.2(GATA3):c.-370+28dup	duplication	Hypoparathyroidism, deafness, renal disease syndrome [RCV000327406]	Chr10:8054906..8054907 [GRCh38] Chr10:8096869..8096870 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.-95G>T	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000350309]	Chr10:8055561 [GRCh38] Chr10:8097524 [GRCh37] Chr10:10p14	benign\|likely benign
NM_001002295.2(GATA3):c.-413C>T	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000272459]	Chr10:8054848 [GRCh38] Chr10:8096811 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.-48G>T	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000306873]\|not provided [RCV000832617]	Chr10:8055608 [GRCh38] Chr10:8097571 [GRCh37] Chr10:10p14	benign\|likely benign
NM_001002295.2(GATA3):c.870C>T (p.Leu290=)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000351762]\|not provided [RCV002056144]	Chr10:8064084 [GRCh38] Chr10:8106047 [GRCh37] Chr10:10p14	benign\|likely benign
NM_001002295.2(GATA3):c.*26C>G	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000308952]	Chr10:8074049 [GRCh38] Chr10:8116012 [GRCh37] Chr10:10p14	benign\|likely benign
NM_001002295.2(GATA3):c.-351C>T	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000378488]	Chr10:8055305 [GRCh38] Chr10:8097268 [GRCh37] Chr10:10p14	benign\|likely benign
NM_001002295.2(GATA3):c.1266G>A (p.Pro422=)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000401283]	Chr10:8073954 [GRCh38] Chr10:8115917 [GRCh37] Chr10:10p14	likely benign\|uncertain significance
NM_001002295.2(GATA3):c.*575A>C	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000331409]	Chr10:8074598 [GRCh38] Chr10:8116561 [GRCh37] Chr10:10p14	likely benign\|uncertain significance
NM_001002295.2(GATA3):c.-503_-502dup	duplication	Hypoparathyroidism, deafness, renal disease syndrome [RCV000380936]	Chr10:8054743..8054744 [GRCh38] Chr10:8096706..8096707 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.840G>C (p.Thr280=)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000292370]\|not provided [RCV000876658]	Chr10:8064054 [GRCh38] Chr10:8106017 [GRCh37] Chr10:10p14	benign\|likely benign\|uncertain significance
NM_001002295.2(GATA3):c.*491A>G	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000356992]	Chr10:8074514 [GRCh38] Chr10:8116477 [GRCh37] Chr10:10p14	benign\|likely benign
NM_001002295.2(GATA3):c.*664C>T	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000333454]\|not provided [RCV003417980]	Chr10:8074687 [GRCh38] Chr10:8116650 [GRCh37] Chr10:10p14	benign\|likely benign\|uncertain significance
NM_001002295.2(GATA3):c.436G>A (p.Ala146Thr)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000358251]	Chr10:8058499 [GRCh38] Chr10:8100462 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.*647A>G	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000294894]	Chr10:8074670 [GRCh38] Chr10:8116633 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.-264G>T	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000335318]	Chr10:8055392 [GRCh38] Chr10:8097355 [GRCh37] Chr10:10p14	benign\|likely benign
NM_001002295.2(GATA3):c.*93C>T	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000358999]\|not provided [RCV001711901]	Chr10:8074116 [GRCh38] Chr10:8116079 [GRCh37] Chr10:10p14	benign
NM_001002295.2(GATA3):c.*612G>A	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000385965]	Chr10:8074635 [GRCh38] Chr10:8116598 [GRCh37] Chr10:10p14	benign
NM_001002295.2(GATA3):c.*517A>G	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000262217]	Chr10:8074540 [GRCh38] Chr10:8116503 [GRCh37] Chr10:10p14	benign
NM_001002295.2(GATA3):c.706C>G (p.Pro236Ala)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000386611]\|not provided [RCV001859789]	Chr10:8058769 [GRCh38] Chr10:8100732 [GRCh37] Chr10:10p14	likely benign\|uncertain significance
NM_001002295.2(GATA3):c.-60C>T	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000315548]\|not provided [RCV001642932]	Chr10:8055596 [GRCh38] Chr10:8097559 [GRCh37] Chr10:10p14	benign
NM_001002295.2(GATA3):c.*952G>A	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000340308]	Chr10:8074975 [GRCh38] Chr10:8116938 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.631G>A (p.Ala211Thr)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000318200]	Chr10:8058694 [GRCh38] Chr10:8100657 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.-359G>A	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000342415]\|not provided [RCV001550516]	Chr10:8055297 [GRCh38] Chr10:8097260 [GRCh37] Chr10:10p14	benign\|likely benign
NM_001002295.2(GATA3):c.57C>T (p.Leu19=)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000366165]\|not provided [RCV003556316]	Chr10:8055712 [GRCh38] Chr10:8097675 [GRCh37] Chr10:10p14	likely benign\|uncertain significance
NM_001002295.2(GATA3):c.-49C>T	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000391765]\|not specified [RCV000602004]	Chr10:8055607 [GRCh38] Chr10:8097570 [GRCh37] Chr10:10p14	benign\|likely benign
NM_001002295.2(GATA3):c.-148A>G	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000281313]	Chr10:8055508 [GRCh38] Chr10:8097471 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.*267G>A	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000260951]	Chr10:8074290 [GRCh38] Chr10:8116253 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.-369-11C>T	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000282786]	Chr10:8055276 [GRCh38] Chr10:8097239 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.*895T>G	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000283007]	Chr10:8074918 [GRCh38] Chr10:8116881 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.264_265dup	duplication	Hypoparathyroidism, deafness, renal disease syndrome [RCV000360348]\|not provided [RCV001582930]	Chr10:8074278..8074279 [GRCh38] Chr10:8116241..8116242 [GRCh37] Chr10:10p14	likely benign\|uncertain significance
NM_001002295.2(GATA3):c.-287G>A	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000279356]	Chr10:8055369 [GRCh38] Chr10:8097332 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.1201_1202del (p.Met401fs)	deletion	not provided [RCV000489658]	Chr10:8073889..8073890 [GRCh38] Chr10:8115852..8115853 [GRCh37] Chr10:10p14	pathogenic\|likely pathogenic
NM_001002295.2(GATA3):c.359C>T (p.Thr120Met)	single nucleotide variant	Hearing impairment [RCV001375342]\|Hypoparathyroidism, deafness, renal disease syndrome [RCV002496880]\|not provided [RCV000488087]	Chr10:8058422 [GRCh38] Chr10:8100385 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.242-1G>C	single nucleotide variant	not provided [RCV000490094]	Chr10:8058304 [GRCh38] Chr10:8100267 [GRCh37] Chr10:10p14	likely pathogenic
NM_001002295.2(GATA3):c.53T>G (p.Val18Gly)	single nucleotide variant	not provided [RCV000722481]	Chr10:8055708 [GRCh38] Chr10:8097671 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.*714G>A	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000381012]	Chr10:8074737 [GRCh38] Chr10:8116700 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.*105A>G	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000399254]	Chr10:8074128 [GRCh38] Chr10:8116091 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.*356G>A	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000316129]	Chr10:8074379 [GRCh38] Chr10:8116342 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.*857A>T	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000384423]	Chr10:8074880 [GRCh38] Chr10:8116843 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.*1072C>A	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000334352]	Chr10:8075095 [GRCh38] Chr10:8117058 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.-370+28del	deletion	Hypoparathyroidism, deafness, renal disease syndrome [RCV000377376]	Chr10:8054907 [GRCh38] Chr10:8096870 [GRCh37] Chr10:10p14	benign
NM_001002295.2(GATA3):c.646dup (p.His216fs)	duplication	not provided [RCV000598816]	Chr10:8058706..8058707 [GRCh38] Chr10:8100669..8100670 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.260C>G (p.Pro87Arg)	single nucleotide variant	not provided [RCV000722510]	Chr10:8058323 [GRCh38] Chr10:8100286 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.591G>A (p.Glu197=)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV002501877]\|not provided [RCV001545375]	Chr10:8058654 [GRCh38] Chr10:8100617 [GRCh37] Chr10:10p14	likely benign
GRCh37/hg19 10p15.3-14(chr10:136361-8850609)x1	copy number loss	See cases [RCV000446357]	Chr10:136361..8850609 [GRCh37] Chr10:10p15.3-14	pathogenic
GRCh37/hg19 10p15.3-11.23(chr10:100026-30278548)x3	copy number gain	See cases [RCV000447131]	Chr10:100026..30278548 [GRCh37] Chr10:10p15.3-11.23	pathogenic
GRCh37/hg19 10p15.3-14(chr10:2116123-8856296)x3	copy number gain	See cases [RCV000445989]	Chr10:2116123..8856296 [GRCh37] Chr10:10p15.3-14	uncertain significance
GRCh37/hg19 10p14(chr10:8056289-8118665)x3	copy number gain	See cases [RCV000445717]	Chr10:8056289..8118665 [GRCh37] Chr10:10p14	likely pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	copy number gain	See cases [RCV000448750]	Chr10:93297..135378918 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
GRCh37/hg19 10p14(chr10:7377293-9129131)x1	copy number loss	See cases [RCV000448295]	Chr10:7377293..9129131 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.790T>C (p.Cys264Arg)	single nucleotide variant	not provided [RCV000485463]	Chr10:8064004 [GRCh38] Chr10:8105967 [GRCh37] Chr10:10p14	likely pathogenic\|conflicting interpretations of pathogenicity
NM_001002295.2(GATA3):c.742G>A (p.Gly248Arg)	single nucleotide variant	not provided [RCV001857101]\|not specified [RCV000504285]	Chr10:8058805 [GRCh38] Chr10:8100768 [GRCh37] Chr10:10p14	uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	copy number gain	See cases [RCV000511389]	Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3	pathogenic\|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	copy number gain	See cases [RCV000510861]	Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	copy number gain	See cases [RCV000510893]	Chr10:100026..50961640 [GRCh37] Chr10:10p15.3-q11.23	pathogenic
NM_001002295.2(GATA3):c.1051-1G>C	single nucleotide variant	Stage 5 chronic kidney disease [RCV000494924]	Chr10:8073738 [GRCh38] Chr10:8115701 [GRCh37] Chr10:10p14	pathogenic\|likely pathogenic
NM_001002295.2(GATA3):c.730C>G (p.Pro244Ala)	single nucleotide variant	Inborn genetic diseases [RCV003249550]	Chr10:8058793 [GRCh38] Chr10:8100756 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.587del (p.Leu196fs)	deletion	Inborn genetic diseases [RCV000623135]	Chr10:8058650 [GRCh38] Chr10:8100613 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.213G>C (p.Thr71=)	single nucleotide variant	not specified [RCV000611537]	Chr10:8055868 [GRCh38] Chr10:8097831 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.332_333dup (p.Trp112fs)	duplication	Hypoparathyroidism, deafness, renal disease syndrome [RCV003238173]	Chr10:8058391..8058392 [GRCh38] Chr10:8100354..8100355 [GRCh37] Chr10:10p14	likely pathogenic
NM_001002295.2(GATA3):c.480C>T (p.Asp160=)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV002498938]\|not provided [RCV001698017]	Chr10:8058543 [GRCh38] Chr10:8100506 [GRCh37] Chr10:10p14	benign\|likely benign
GRCh37/hg19 10p15.3-13(chr10:100026-12842179)x1	copy number loss	See cases [RCV000512541]	Chr10:100026..12842179 [GRCh37] Chr10:10p15.3-13	pathogenic
NM_001002295.2(GATA3):c.1058G>C (p.Arg353Thr)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000709930]	Chr10:8073746 [GRCh38] Chr10:8115709 [GRCh37] Chr10:10p14	likely pathogenic\|not provided
NM_001002295.2(GATA3):c.1055dup (p.Asn352fs)	duplication	not provided [RCV000722287]	Chr10:8073741..8073742 [GRCh38] Chr10:8115704..8115705 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.959A>G (p.Asn320Ser)	single nucleotide variant	not provided [RCV001531046]	Chr10:8069507 [GRCh38] Chr10:8111470 [GRCh37] Chr10:10p14	likely pathogenic
Single allele	deletion	Hypoparathyroidism, deafness, renal disease syndrome [RCV000735901]	Chr10:4689760..19120882 [GRCh37] Chr10:10p15.1-12.31	pathogenic
NM_001002295.2(GATA3):c.951del (p.Cys318fs)	deletion	Hypoparathyroidism, deafness, renal disease syndrome [RCV001527691]	Chr10:8069498 [GRCh38] Chr10:8111461 [GRCh37] Chr10:10p14	pathogenic\|likely pathogenic
GRCh37/hg19 10p14(chr10:8098185-8102887)x1	copy number loss	not provided [RCV000737010]	Chr10:8098185..8102887 [GRCh37] Chr10:10p14	benign
GRCh37/hg19 10p14(chr10:8098876-8102887)x1	copy number loss	not provided [RCV000737011]	Chr10:8098876..8102887 [GRCh37] Chr10:10p14	benign
GRCh37/hg19 10p15.3-13(chr10:69083-12887271)x3	copy number gain	not provided [RCV000749463]	Chr10:69083..12887271 [GRCh37] Chr10:10p15.3-13	pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3	copy number gain	not provided [RCV000749464]	Chr10:73232..135524321 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3	copy number gain	not provided [RCV000749465]	Chr10:98087..135477883 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
NM_001002295.2(GATA3):c.483C>G (p.Val161=)	single nucleotide variant	GATA3-related condition [RCV003941013]\|not provided [RCV001565261]	Chr10:8058546 [GRCh38] Chr10:8100509 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.732C>T (p.Pro244=)	single nucleotide variant	not provided [RCV000919546]	Chr10:8058795 [GRCh38] Chr10:8100758 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.*266dup	duplication	not provided [RCV001567331]	Chr10:8074288..8074289 [GRCh38] Chr10:8116251..8116252 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.701dup (p.Ser237fs)	duplication	not provided [RCV000761715]	Chr10:8058762..8058763 [GRCh38] Chr10:8100725..8100726 [GRCh37] Chr10:10p14	pathogenic\|likely pathogenic
NM_001002295.2(GATA3):c.924+159_924+168del	deletion	not provided [RCV001569175]	Chr10:8064296..8064305 [GRCh38] Chr10:8106259..8106268 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.330C>T (p.Ser110=)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV002495881]\|not provided [RCV001550954]	Chr10:8058393 [GRCh38] Chr10:8100356 [GRCh37] Chr10:10p14	benign\|likely benign
NM_001002295.2(GATA3):c.948G>A (p.Thr316=)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV002501362]\|not provided [RCV000879309]	Chr10:8069496 [GRCh38] Chr10:8111459 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.705C>T (p.Pro235=)	single nucleotide variant	not provided [RCV000920771]	Chr10:8058768 [GRCh38] Chr10:8100731 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.900C>T (p.Pro300=)	single nucleotide variant	not provided [RCV000907837]	Chr10:8064114 [GRCh38] Chr10:8106077 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.89G>A (p.Gly30Asp)	single nucleotide variant	not provided [RCV000821101]\|not specified [RCV002271590]	Chr10:8055744 [GRCh38] Chr10:8097707 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.569T>C (p.Leu190Pro)	single nucleotide variant	not provided [RCV000994348]	Chr10:8058632 [GRCh38] Chr10:8100595 [GRCh37] Chr10:10p14	uncertain significance
GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	copy number gain	not provided [RCV000848062]	Chr10:100026..15273144 [GRCh37] Chr10:10p15.3-13	pathogenic
NM_001002295.2(GATA3):c.708del (p.Ser237fs)	deletion	Hypoparathyroidism, deafness, renal disease syndrome [RCV000988325]\|not provided [RCV002508791]	Chr10:8058765 [GRCh38] Chr10:8100728 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.1050+60C>T	single nucleotide variant	not provided [RCV000842933]	Chr10:8069658 [GRCh38] Chr10:8111621 [GRCh37] Chr10:10p14	benign
NM_001002295.2(GATA3):c.421T>C (p.Leu141=)	single nucleotide variant	not provided [RCV000841786]	Chr10:8058484 [GRCh38] Chr10:8100447 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.1276C>T (p.Pro426Ser)	single nucleotide variant	not provided [RCV003239153]	Chr10:8073964 [GRCh38] Chr10:8115927 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.375C>T (p.Gly125=)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV002502768]\|not provided [RCV000916006]	Chr10:8058438 [GRCh38] Chr10:8100401 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.1055del (p.Asn352fs)	deletion	not provided [RCV001008631]	Chr10:8073742 [GRCh38] Chr10:8115705 [GRCh37] Chr10:10p14	likely pathogenic
NM_001002295.2(GATA3):c.540G>A (p.Glu180=)	single nucleotide variant	not provided [RCV000976083]	Chr10:8058603 [GRCh38] Chr10:8100566 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.1130_1139dup (p.His380fs)	microsatellite	not provided [RCV001009020]	Chr10:8073807..8073808 [GRCh38] Chr10:8115770..8115771 [GRCh37] Chr10:10p14	likely pathogenic
GRCh37/hg19 10p14(chr10:8011156-9996086)x1	copy number loss	not provided [RCV000846807]	Chr10:8011156..9996086 [GRCh37] Chr10:10p14	pathogenic
GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	copy number gain	not provided [RCV000848090]	Chr10:100026..15273144 [GRCh37] Chr10:10p15.3-13	pathogenic
NM_001002295.2(GATA3):c.1058G>A (p.Arg353Lys)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV000988326]	Chr10:8073746 [GRCh38] Chr10:8115709 [GRCh37] Chr10:10p14	uncertain significance
GRCh37/hg19 10p14(chr10:8075029-8407665)x3	copy number gain	not provided [RCV000846676]	Chr10:8075029..8407665 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.*598G>A	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV001105275]	Chr10:8074621 [GRCh38] Chr10:8116584 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.-561G>T	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV001106224]	Chr10:8054700 [GRCh38] Chr10:8096663 [GRCh37] Chr10:10p14	uncertain significance
NC_000010.10:g.(?_8111416)_(8111581_?)del	deletion	not provided [RCV003105392]	Chr10:8111416..8111581 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.435C>T (p.His145=)	single nucleotide variant	not provided [RCV003104920]	Chr10:8058498 [GRCh38] Chr10:8100461 [GRCh37] Chr10:10p14	benign
NM_001002295.2(GATA3):c.1050+300_1050+301del	deletion	not provided [RCV001568288]	Chr10:8069888..8069889 [GRCh38] Chr10:8111851..8111852 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.1051-221C>T	single nucleotide variant	not provided [RCV001552387]	Chr10:8073518 [GRCh38] Chr10:8115481 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.254G>A (p.Cys85Tyr)	single nucleotide variant	not provided [RCV003106696]	Chr10:8058317 [GRCh38] Chr10:8100280 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.778+33C>T	single nucleotide variant	not provided [RCV001575883]	Chr10:8058874 [GRCh38] Chr10:8100837 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.924+142_924+143dup	duplication	not provided [RCV001612346]	Chr10:8064268..8064269 [GRCh38] Chr10:8106231..8106232 [GRCh37] Chr10:10p14	benign
NM_001002295.2(GATA3):c.924+190del	deletion	not provided [RCV001561249]	Chr10:8064312 [GRCh38] Chr10:8106275 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.242-220C>T	single nucleotide variant	not provided [RCV001561825]	Chr10:8058085 [GRCh38] Chr10:8100048 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.1050+301del	deletion	not provided [RCV001657395]	Chr10:8069888 [GRCh38] Chr10:8111851 [GRCh37] Chr10:10p14	benign
NM_001002295.2(GATA3):c.924+143dup	duplication	not provided [RCV001594111]	Chr10:8064268..8064269 [GRCh38] Chr10:8106231..8106232 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.373_375dup (p.Gly125dup)	duplication	GATA3-related condition [RCV003980696]\|Hypoparathyroidism, deafness, renal disease syndrome [RCV002501902]\|not provided [RCV001557544]	Chr10:8058434..8058435 [GRCh38] Chr10:8100397..8100398 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.924+49T>C	single nucleotide variant	not provided [RCV001575301]	Chr10:8064187 [GRCh38] Chr10:8106150 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.273T>A (p.His91Gln)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV001580338]	Chr10:8058336 [GRCh38] Chr10:8100299 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.1161C>T (p.Pro387=)	single nucleotide variant	not provided [RCV000927296]	Chr10:8073849 [GRCh38] Chr10:8115812 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.294C>T (p.Asp98=)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV002505383]\|not provided [RCV000932287]	Chr10:8058357 [GRCh38] Chr10:8100320 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.681C>G (p.Pro227=)	single nucleotide variant	not provided [RCV000898655]	Chr10:8058744 [GRCh38] Chr10:8100707 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.210C>G (p.Ala70=)	single nucleotide variant	not provided [RCV000887987]	Chr10:8055865 [GRCh38] Chr10:8097828 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.915G>A (p.Lys305=)	single nucleotide variant	not provided [RCV000916664]	Chr10:8064129 [GRCh38] Chr10:8106092 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.-495G>C	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV001106225]	Chr10:8054766 [GRCh38] Chr10:8096729 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.708C>A (p.Pro236=)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV001106311]	Chr10:8058771 [GRCh38] Chr10:8100734 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.990G>A (p.Arg330=)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV001106313]	Chr10:8069538 [GRCh38] Chr10:8111501 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.431dup (p.His145fs)	duplication	GATA3-related condition [RCV003892163]\|Hypoparathyroidism, deafness, renal disease syndrome [RCV001089964]\|not provided [RCV001862666]	Chr10:8058488..8058489 [GRCh38] Chr10:8100451..8100452 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.324del (p.Ala109fs)	deletion	Hypoparathyroidism, deafness, renal disease syndrome [RCV001078192]	Chr10:8058386 [GRCh38] Chr10:8100349 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.489G>A (p.Pro163=)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV001105183]	Chr10:8058552 [GRCh38] Chr10:8100515 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.492C>T (p.Asp164=)	single nucleotide variant	GATA3-related condition [RCV003938451]\|Hypoparathyroidism, deafness, renal disease syndrome [RCV001105184]	Chr10:8058555 [GRCh38] Chr10:8100518 [GRCh37] Chr10:10p14	likely benign\|uncertain significance
NM_001002295.2(GATA3):c.681C>T (p.Pro227=)	single nucleotide variant	not provided [RCV000912702]	Chr10:8058744 [GRCh38] Chr10:8100707 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.924+34A>G	single nucleotide variant	not provided [RCV001540977]	Chr10:8064172 [GRCh38] Chr10:8106135 [GRCh37] Chr10:10p14	benign
NM_001002295.2(GATA3):c.924+110G>A	single nucleotide variant	not provided [RCV001539643]	Chr10:8064248 [GRCh38] Chr10:8106211 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.241+29C>T	single nucleotide variant	not provided [RCV001541229]	Chr10:8055925 [GRCh38] Chr10:8097888 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.925-268C>T	single nucleotide variant	not provided [RCV001598177]	Chr10:8069205 [GRCh38] Chr10:8111168 [GRCh37] Chr10:10p14	benign
NM_001002295.2(GATA3):c.613A>T (p.Met205Leu)	single nucleotide variant	not provided [RCV003231741]	Chr10:8058676 [GRCh38] Chr10:8100639 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.925-78dup	duplication	not provided [RCV001664981]	Chr10:8069382..8069383 [GRCh38] Chr10:8111345..8111346 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.924+173del	deletion	not provided [RCV001641394]	Chr10:8064311 [GRCh38] Chr10:8106274 [GRCh37] Chr10:10p14	benign
GRCh37/hg19 10p15.3-13(chr10:100027-12648149)x3	copy number gain	not provided [RCV002472393]	Chr10:100027..12648149 [GRCh37] Chr10:10p15.3-13	uncertain significance
NM_001002295.2(GATA3):c.924+170_924+173del	deletion	not provided [RCV001560750]	Chr10:8064308..8064311 [GRCh38] Chr10:8106271..8106274 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.1051-16dup	duplication	not provided [RCV001556018]	Chr10:8073705..8073706 [GRCh38] Chr10:8115668..8115669 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.242-143A>G	single nucleotide variant	not provided [RCV001657501]	Chr10:8058162 [GRCh38] Chr10:8100125 [GRCh37] Chr10:10p14	benign
NM_001002295.2(GATA3):c.925-78del	deletion	not provided [RCV001655360]	Chr10:8069383 [GRCh38] Chr10:8111346 [GRCh37] Chr10:10p14	benign
NM_001002295.2(GATA3):c.242-139_242-138del	deletion	not provided [RCV001619035]	Chr10:8058166..8058167 [GRCh38] Chr10:8100129..8100130 [GRCh37] Chr10:10p14	benign
NM_001002295.2(GATA3):c.826C>T (p.Arg276Trp)	single nucleotide variant	not provided [RCV001590713]	Chr10:8064040 [GRCh38] Chr10:8106003 [GRCh37] Chr10:10p14	likely pathogenic
NM_001002295.2(GATA3):c.779-211G>A	single nucleotide variant	not provided [RCV001614136]	Chr10:8063782 [GRCh38] Chr10:8105745 [GRCh37] Chr10:10p14	benign
NM_001002295.2(GATA3):c.779-1748C>A	single nucleotide variant	not provided [RCV001596311]	Chr10:8062245 [GRCh38] Chr10:8104208 [GRCh37] Chr10:10p14	benign
NM_001002295.2(GATA3):c.925-147A>T	single nucleotide variant	not provided [RCV001594356]	Chr10:8069326 [GRCh38] Chr10:8111289 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.242-137_242-136insTT	insertion	not provided [RCV001654665]	Chr10:8058168..8058169 [GRCh38] Chr10:8100131..8100132 [GRCh37] Chr10:10p14	benign
NM_001002295.2(GATA3):c.*383T>G	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV001103360]	Chr10:8074406 [GRCh38] Chr10:8116369 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.*320T>C	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV001103359]	Chr10:8074343 [GRCh38] Chr10:8116306 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.605G>A (p.Arg202His)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV001254605]\|not provided [RCV003770326]	Chr10:8058668 [GRCh38] Chr10:8100631 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.327C>T (p.Ala109=)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV001105182]	Chr10:8058390 [GRCh38] Chr10:8100353 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.*588C>A	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV001105273]	Chr10:8074611 [GRCh38] Chr10:8116574 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.*592G>A	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV001105274]	Chr10:8074615 [GRCh38] Chr10:8116578 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.*656G>A	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV001105276]	Chr10:8074679 [GRCh38] Chr10:8116642 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.*863T>A	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV001106408]	Chr10:8074886 [GRCh38] Chr10:8116849 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.*987T>G	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV001106409]	Chr10:8075010 [GRCh38] Chr10:8116973 [GRCh37] Chr10:10p14	benign
NM_001002295.2(GATA3):c.832G>A (p.Asp278Asn)	single nucleotide variant	Dominant congenital non-syndromic sensorineural hearing loss [RCV001004795]	Chr10:8064046 [GRCh38] Chr10:8106009 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.-80C>T	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV001108444]	Chr10:8055576 [GRCh38] Chr10:8097539 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.1173G>A (p.Ser391=)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV001108531]	Chr10:8073861 [GRCh38] Chr10:8115824 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.*22G>A	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV001108533]	Chr10:8074045 [GRCh38] Chr10:8116008 [GRCh37] Chr10:10p14	benign
NM_001002295.2(GATA3):c.924+143del	deletion	not provided [RCV001707075]	Chr10:8064269 [GRCh38] Chr10:8106232 [GRCh37] Chr10:10p14	benign
NM_001002295.2(GATA3):c.241+326A>G	single nucleotide variant	not provided [RCV001670893]	Chr10:8056222 [GRCh38] Chr10:8098185 [GRCh37] Chr10:10p14	benign
NM_001002295.2(GATA3):c.924+173_924+177del	deletion	not provided [RCV001614270]	Chr10:8064309..8064313 [GRCh38] Chr10:8106272..8106276 [GRCh37] Chr10:10p14	benign
NM_001002295.2(GATA3):c.864C>G (p.Cys288Trp)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV001527690]	Chr10:8064078 [GRCh38] Chr10:8106041 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.924+252G>A	single nucleotide variant	not provided [RCV001611239]	Chr10:8064390 [GRCh38] Chr10:8106353 [GRCh37] Chr10:10p14	benign
NM_001002295.2(GATA3):c.961T>A (p.Cys321Ser)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV001089562]	Chr10:8069509 [GRCh38] Chr10:8111472 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.925-27C>T	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV001702938]\|not provided [RCV001620491]	Chr10:8069446 [GRCh38] Chr10:8111409 [GRCh37] Chr10:10p14	benign
NM_001002295.2(GATA3):c.924+148TTTC[2]	microsatellite	not provided [RCV001666480]	Chr10:8064286..8064289 [GRCh38] Chr10:8106249..8106252 [GRCh37] Chr10:10p14	benign
NM_001002295.2(GATA3):c.1050+301dup	duplication	not provided [RCV001611844]	Chr10:8069887..8069888 [GRCh38] Chr10:8111850..8111851 [GRCh37] Chr10:10p14	benign
NM_001002295.2(GATA3):c.-40G>A	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV001103266]	Chr10:8055616 [GRCh38] Chr10:8097579 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.706C>A (p.Pro236Thr)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV001106310]\|not provided [RCV003413918]	Chr10:8058769 [GRCh38] Chr10:8100732 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.*747G>A	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV001106407]	Chr10:8074770 [GRCh38] Chr10:8116733 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.241+8C>T	single nucleotide variant	GATA3-related condition [RCV003898093]\|Hypoparathyroidism, deafness, renal disease syndrome [RCV001103267]	Chr10:8055904 [GRCh38] Chr10:8097867 [GRCh37] Chr10:10p14	benign\|likely benign
NM_001002295.2(GATA3):c.733delinsCC (p.Thr245fs)	indel	Hypoparathyroidism, deafness, renal disease syndrome [RCV001197241]	Chr10:8058796 [GRCh38] Chr10:8100759 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.1262C>T (p.Thr421Met)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV001251020]	Chr10:8073950 [GRCh38] Chr10:8115913 [GRCh37] Chr10:10p14	likely pathogenic
NM_001002295.2(GATA3):c.708dup (p.Ser237fs)	duplication	Hypoparathyroidism, deafness, renal disease syndrome [RCV001254692]\|not provided [RCV002570570]	Chr10:8058764..8058765 [GRCh38] Chr10:8100727..8100728 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.790T>A (p.Cys264Ser)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV001251506]	Chr10:8064004 [GRCh38] Chr10:8105967 [GRCh37] Chr10:10p14	pathogenic\|uncertain significance
NM_001002295.2(GATA3):c.724G>A (p.Gly242Ser)	single nucleotide variant	GATA3-related condition [RCV003956227]\|Hypoparathyroidism, deafness, renal disease syndrome [RCV002506652]\|not provided [RCV001539378]	Chr10:8058787 [GRCh38] Chr10:8100750 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.778+65C>T	single nucleotide variant	not provided [RCV001536760]	Chr10:8058906 [GRCh38] Chr10:8100869 [GRCh37] Chr10:10p14	benign
NM_001002295.2(GATA3):c.389del (p.Leu130fs)	deletion	Hypoparathyroidism, deafness, renal disease syndrome [RCV001375869]	Chr10:8058452 [GRCh38] Chr10:8100415 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.1306C>G (p.Pro436Ala)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV001533196]\|Neurodevelopmental disorder [RCV001374962]	Chr10:8073994 [GRCh38] Chr10:8115957 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.71C>T (p.Pro24Leu)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV001337038]\|not provided [RCV001871895]	Chr10:8055726 [GRCh38] Chr10:8097689 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.1050+2T>A	single nucleotide variant	Congenital anomaly of kidney and urinary tract [RCV001328306]	Chr10:8069600 [GRCh38] Chr10:8111563 [GRCh37] Chr10:10p14	likely pathogenic
NM_001002295.2(GATA3):c.257G>A (p.Arg86His)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV001290432]	Chr10:8058320 [GRCh38] Chr10:8100283 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.153dup (p.Asn52Ter)	duplication	Hearing impairment [RCV001375170]	Chr10:8055803..8055804 [GRCh38] Chr10:8097766..8097767 [GRCh37] Chr10:10p14	likely pathogenic
NM_001002295.2(GATA3):c.924+173C>T	single nucleotide variant	not provided [RCV001716005]	Chr10:8064311 [GRCh38] Chr10:8106274 [GRCh37] Chr10:10p14	benign
NM_001002295.2(GATA3):c.1050+19G>A	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV002501952]\|not provided [RCV001585571]	Chr10:8069617 [GRCh38] Chr10:8111580 [GRCh37] Chr10:10p14	benign\|likely benign
NM_001002295.2(GATA3):c.381_388del (p.Gly128fs)	deletion	Hypoparathyroidism, deafness, renal disease syndrome [RCV002250007]	Chr10:8058440..8058447 [GRCh38] Chr10:8100403..8100410 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.925-3_925-2del	deletion	Hypoparathyroidism, deafness, renal disease syndrome [RCV002250008]	Chr10:8069470..8069471 [GRCh38] Chr10:8111433..8111434 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.896G>T (p.Arg299Leu)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV002273238]\|not provided [RCV003565510]	Chr10:8064110 [GRCh38] Chr10:8106073 [GRCh37] Chr10:10p14	pathogenic\|likely pathogenic\|uncertain significance
NM_001002295.2(GATA3):c.779-1G>C	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV001783345]	Chr10:8063992 [GRCh38] Chr10:8105955 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.778+1G>A	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV001799520]	Chr10:8058842 [GRCh38] Chr10:8100805 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.1013T>C (p.Val338Ala)	single nucleotide variant	not provided [RCV001752717]	Chr10:8069561 [GRCh38] Chr10:8111524 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.706C>T (p.Pro236Ser)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV002506778]\|not provided [RCV001767531]	Chr10:8058769 [GRCh38] Chr10:8100732 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.1184C>T (p.Ala395Val)	single nucleotide variant	not provided [RCV001769353]	Chr10:8073872 [GRCh38] Chr10:8115835 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.724G>C (p.Gly242Arg)	single nucleotide variant	not provided [RCV001752812]	Chr10:8058787 [GRCh38] Chr10:8100750 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.209C>A (p.Ala70Asp)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV002506839]\|not provided [RCV001806531]	Chr10:8055864 [GRCh38] Chr10:8097827 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.675C>A (p.Tyr225Ter)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV001822880]	Chr10:8058738 [GRCh38] Chr10:8100701 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.1024T>G (p.Cys342Gly)	single nucleotide variant	not provided [RCV002008508]	Chr10:8069572 [GRCh38] Chr10:8111535 [GRCh37] Chr10:10p14	uncertain significance
GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	copy number gain	Mosaic supernumerary isodicentric chromosome 10 [RCV001825164]	Chr10:135655..47688677 [GRCh37] Chr10:10p15.3-q11.22	not provided
NM_001002295.2(GATA3):c.774dup (p.Thr259fs)	duplication	not provided [RCV001929763]	Chr10:8058836..8058837 [GRCh38] Chr10:8100799..8100800 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.895C>T (p.Arg299Trp)	single nucleotide variant	Inborn genetic diseases [RCV002657701]\|not provided [RCV002045465]	Chr10:8064109 [GRCh38] Chr10:8106072 [GRCh37] Chr10:10p14	likely pathogenic
NM_001002295.2(GATA3):c.169G>A (p.Gly57Ser)	single nucleotide variant	not provided [RCV001969384]	Chr10:8055824 [GRCh38] Chr10:8097787 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.464C>T (p.Pro155Leu)	single nucleotide variant	not provided [RCV001895799]	Chr10:8058527 [GRCh38] Chr10:8100490 [GRCh37] Chr10:10p14	uncertain significance
GRCh37/hg19 10p14(chr10:8046788-9979612)	copy number loss	not specified [RCV002052865]	Chr10:8046788..9979612 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.530G>A (p.Arg177Gln)	single nucleotide variant	not provided [RCV001969851]	Chr10:8058593 [GRCh38] Chr10:8100556 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.404del (p.Pro135fs)	deletion	Hypoparathyroidism, deafness, renal disease syndrome [RCV002051993]\|not provided [RCV001999809]	Chr10:8058462 [GRCh38] Chr10:8100425 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.219G>C (p.Gln73His)	single nucleotide variant	not provided [RCV001969188]	Chr10:8055874 [GRCh38] Chr10:8097837 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.352_353del (p.Ser118fs)	microsatellite	Hypoparathyroidism, deafness, renal disease syndrome [RCV001823288]	Chr10:8058413..8058414 [GRCh38] Chr10:8100376..8100377 [GRCh37] Chr10:10p14	pathogenic
GRCh37/hg19 10p15.3-14(chr10:2116123-8856296)	copy number gain	not specified [RCV002052861]	Chr10:2116123..8856296 [GRCh37] Chr10:10p15.3-14	uncertain significance
GRCh37/hg19 10p14(chr10:7943586-8120292)	copy number loss	not specified [RCV002052864]	Chr10:7943586..8120292 [GRCh37] Chr10:10p14	pathogenic
GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	copy number gain	not specified [RCV002052863]	Chr10:6273934..34732521 [GRCh37] Chr10:10p15.1-11.21	pathogenic
NM_001002295.2(GATA3):c.836del (p.Gly279fs)	deletion	not provided [RCV001944809]	Chr10:8064049 [GRCh38] Chr10:8106012 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.1050+2T>C	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV003155447]\|not provided [RCV001950897]	Chr10:8069600 [GRCh38] Chr10:8111563 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.1135G>A (p.Val379Met)	single nucleotide variant	not provided [RCV001902084]	Chr10:8073823 [GRCh38] Chr10:8115786 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.858C>A (p.Asn286Lys)	single nucleotide variant	not provided [RCV001977533]	Chr10:8064072 [GRCh38] Chr10:8106035 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.451_454del (p.Phe151fs)	deletion	not provided [RCV001953437]	Chr10:8058514..8058517 [GRCh38] Chr10:8100477..8100480 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.493C>T (p.Pro165Ser)	single nucleotide variant	not provided [RCV002027300]	Chr10:8058556 [GRCh38] Chr10:8100519 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.233C>A (p.Thr78Asn)	single nucleotide variant	not provided [RCV001931981]	Chr10:8055888 [GRCh38] Chr10:8097851 [GRCh37] Chr10:10p14	uncertain significance
NC_000010.10:g.(?_8097619)_(8739580_?)del	deletion	not provided [RCV001906943]	Chr10:8097619..8739580 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.916C>T (p.Arg306Ter)	single nucleotide variant	not provided [RCV002226126]	Chr10:8064130 [GRCh38] Chr10:8106093 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.33G>C (p.Val11=)	single nucleotide variant	not provided [RCV002085428]	Chr10:8055688 [GRCh38] Chr10:8097651 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.324C>T (p.Thr108=)	single nucleotide variant	not provided [RCV002087360]	Chr10:8058387 [GRCh38] Chr10:8100350 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.81C>T (p.His27=)	single nucleotide variant	not provided [RCV002076968]	Chr10:8055736 [GRCh38] Chr10:8097699 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.141G>C (p.Val47=)	single nucleotide variant	not provided [RCV002152984]	Chr10:8055796 [GRCh38] Chr10:8097759 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.51C>G (p.Ala17=)	single nucleotide variant	not provided [RCV002098146]	Chr10:8055706 [GRCh38] Chr10:8097669 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.864C>T (p.Cys288=)	single nucleotide variant	not provided [RCV002176908]	Chr10:8064078 [GRCh38] Chr10:8106041 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.779-8G>C	single nucleotide variant	not provided [RCV002184282]	Chr10:8063985 [GRCh38] Chr10:8105948 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.45C>T (p.His15=)	single nucleotide variant	not provided [RCV002220033]	Chr10:8055700 [GRCh38] Chr10:8097663 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.82C>A (p.His28Asn)	single nucleotide variant	GATA3-related condition [RCV003396896]\|not provided [RCV003118771]	Chr10:8055737 [GRCh38] Chr10:8097700 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.260del (p.Pro87fs)	deletion	See cases [RCV003156182]	Chr10:8058321 [GRCh38] Chr10:8100284 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.473C>T (p.Pro158Leu)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV003130991]	Chr10:8058536 [GRCh38] Chr10:8100499 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.815C>T (p.Thr272Ile)	single nucleotide variant	not provided [RCV002251659]	Chr10:8064029 [GRCh38] Chr10:8105992 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.843A>G (p.Gly281=)	single nucleotide variant	not provided [RCV003852779]	Chr10:8064057 [GRCh38] Chr10:8106020 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.1256C>T (p.Thr419Met)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV002294548]\|not provided [RCV003097844]	Chr10:8073944 [GRCh38] Chr10:8115907 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.872A>G (p.Tyr291Cys)	single nucleotide variant	not provided [RCV002297371]	Chr10:8064086 [GRCh38] Chr10:8106049 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.1203G>A (p.Met401Ile)	single nucleotide variant	not provided [RCV002681711]	Chr10:8073891 [GRCh38] Chr10:8115854 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.924+1G>A	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV002471647]\|not provided [RCV002573613]	Chr10:8064139 [GRCh38] Chr10:8106102 [GRCh37] Chr10:10p14	pathogenic\|likely pathogenic
NM_001002295.2(GATA3):c.910C>A (p.Pro304Thr)	single nucleotide variant	not provided [RCV002298007]	Chr10:8064124 [GRCh38] Chr10:8106087 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.242-13C>T	single nucleotide variant	not provided [RCV002613370]	Chr10:8058292 [GRCh38] Chr10:8100255 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.1185C>T (p.Ala395=)	single nucleotide variant	not provided [RCV002771055]	Chr10:8073873 [GRCh38] Chr10:8115836 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.127C>T (p.Leu43=)	single nucleotide variant	not provided [RCV003035212]	Chr10:8055782 [GRCh38] Chr10:8097745 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.608_609del (p.Gly203fs)	deletion	not provided [RCV002862225]	Chr10:8058671..8058672 [GRCh38] Chr10:8100634..8100635 [GRCh37] Chr10:10p14	pathogenic
GRCh37/hg19 10p14(chr10:7636590-11590970)x3	copy number gain	not provided [RCV002475712]	Chr10:7636590..11590970 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.148C>T (p.Leu50Phe)	single nucleotide variant	Inborn genetic diseases [RCV002793861]	Chr10:8055803 [GRCh38] Chr10:8097766 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.1265C>T (p.Pro422Leu)	single nucleotide variant	not provided [RCV003016937]	Chr10:8073953 [GRCh38] Chr10:8115916 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.295G>A (p.Gly99Ser)	single nucleotide variant	Inborn genetic diseases [RCV002859154]	Chr10:8058358 [GRCh38] Chr10:8100321 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.241+9G>T	single nucleotide variant	not provided [RCV002572049]	Chr10:8055905 [GRCh38] Chr10:8097868 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.1029G>T (p.Gly343=)	single nucleotide variant	not provided [RCV002572158]	Chr10:8069577 [GRCh38] Chr10:8111540 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.662C>T (p.Thr221Ile)	single nucleotide variant	not provided [RCV003020384]	Chr10:8058725 [GRCh38] Chr10:8100688 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.1051-15T>A	single nucleotide variant	not provided [RCV002636559]	Chr10:8073724 [GRCh38] Chr10:8115687 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.149_156del (p.Leu50fs)	deletion	not provided [RCV002913727]	Chr10:8055803..8055810 [GRCh38] Chr10:8097766..8097773 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.342C>T (p.Leu114=)	single nucleotide variant	not provided [RCV003055150]	Chr10:8058405 [GRCh38] Chr10:8100368 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.45C>A (p.His15Gln)	single nucleotide variant	Inborn genetic diseases [RCV002870157]\|not provided [RCV003777897]	Chr10:8055700 [GRCh38] Chr10:8097663 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.837C>T (p.Gly279=)	single nucleotide variant	not provided [RCV002765557]	Chr10:8064051 [GRCh38] Chr10:8106014 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.925-1G>A	single nucleotide variant	not provided [RCV002894412]	Chr10:8069472 [GRCh38] Chr10:8111435 [GRCh37] Chr10:10p14	likely pathogenic
NM_001002295.2(GATA3):c.1043T>C (p.Leu348Pro)	single nucleotide variant	not provided [RCV002508482]	Chr10:8069591 [GRCh38] Chr10:8111554 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.411G>C (p.Ser137=)	single nucleotide variant	not provided [RCV002594946]	Chr10:8058474 [GRCh38] Chr10:8100437 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.69C>T (p.His23=)	single nucleotide variant	GATA3-related condition [RCV003916518]\|not provided [RCV002710678]	Chr10:8055724 [GRCh38] Chr10:8097687 [GRCh37] Chr10:10p14	benign\|likely benign
NM_001002295.2(GATA3):c.404dup (p.Ala136fs)	duplication	not provided [RCV003058242]	Chr10:8058461..8058462 [GRCh38] Chr10:8100424..8100425 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.703C>A (p.Pro235Thr)	single nucleotide variant	not provided [RCV002642711]	Chr10:8058766 [GRCh38] Chr10:8100729 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.205A>G (p.Arg69Gly)	single nucleotide variant	not provided [RCV002576175]	Chr10:8055860 [GRCh38] Chr10:8097823 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.470C>T (p.Pro157Leu)	single nucleotide variant	Inborn genetic diseases [RCV002708771]	Chr10:8058533 [GRCh38] Chr10:8100496 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.695G>C (p.Gly232Ala)	single nucleotide variant	Inborn genetic diseases [RCV002742726]	Chr10:8058758 [GRCh38] Chr10:8100721 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.766C>T (p.Arg256Trp)	single nucleotide variant	not provided [RCV003039877]	Chr10:8058829 [GRCh38] Chr10:8100792 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.122A>C (p.Tyr41Ser)	single nucleotide variant	not provided [RCV002851378]	Chr10:8055777 [GRCh38] Chr10:8097740 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.426G>T (p.Ser142=)	single nucleotide variant	not provided [RCV003029642]	Chr10:8058489 [GRCh38] Chr10:8100452 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.1182G>A (p.Pro394=)	single nucleotide variant	not provided [RCV003009414]	Chr10:8073870 [GRCh38] Chr10:8115833 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.638C>A (p.Ser213Ter)	single nucleotide variant	not provided [RCV002856118]	Chr10:8058701 [GRCh38] Chr10:8100664 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.896G>A (p.Arg299Gln)	single nucleotide variant	not provided [RCV003062246]	Chr10:8064110 [GRCh38] Chr10:8106073 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.1113C>A (p.Ser371Arg)	single nucleotide variant	not provided [RCV003029769]	Chr10:8073801 [GRCh38] Chr10:8115764 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.849C>T (p.Tyr283=)	single nucleotide variant	GATA3-related condition [RCV003898596]\|not provided [RCV002921953]	Chr10:8064063 [GRCh38] Chr10:8106026 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.572C>T (p.Pro191Leu)	single nucleotide variant	Inborn genetic diseases [RCV002748030]	Chr10:8058635 [GRCh38] Chr10:8100598 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.537C>G (p.Asp179Glu)	single nucleotide variant	Inborn genetic diseases [RCV002724181]	Chr10:8058600 [GRCh38] Chr10:8100563 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.524C>T (p.Ser175Leu)	single nucleotide variant	not provided [RCV002634480]	Chr10:8058587 [GRCh38] Chr10:8100550 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.859G>A (p.Ala287Thr)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV003153004]	Chr10:8064073 [GRCh38] Chr10:8106036 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.18C>T (p.Asp6=)	single nucleotide variant	not provided [RCV002654014]	Chr10:8055673 [GRCh38] Chr10:8097636 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.393dup (p.Val132fs)	duplication	Deafness, autosomal dominant [RCV003155569]	Chr10:8058454..8058455 [GRCh38] Chr10:8100417..8100418 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.526G>A (p.Ala176Thr)	single nucleotide variant	Inborn genetic diseases [RCV003213565]	Chr10:8058589 [GRCh38] Chr10:8100552 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.649C>G (p.His217Asp)	single nucleotide variant	GATA3-related condition [RCV003973777]\|Inborn genetic diseases [RCV003190950]	Chr10:8058712 [GRCh38] Chr10:8100675 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.394G>C (p.Val132Leu)	single nucleotide variant	Inborn genetic diseases [RCV003186269]	Chr10:8058457 [GRCh38] Chr10:8100420 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.454A>C (p.Thr152Pro)	single nucleotide variant	Inborn genetic diseases [RCV003212226]\|not provided [RCV003730468]	Chr10:8058517 [GRCh38] Chr10:8100480 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.827G>T (p.Arg276Leu)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV003142550]	Chr10:8064041 [GRCh38] Chr10:8106004 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.647_681dup (p.Glu228fs)	duplication	not provided [RCV003222667]	Chr10:8058706..8058707 [GRCh38] Chr10:8100669..8100670 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.10A>G (p.Thr4Ala)	single nucleotide variant	not provided [RCV003218927]	Chr10:8055665 [GRCh38] Chr10:8097628 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.604C>T (p.Arg202Cys)	single nucleotide variant	not provided [RCV003326787]	Chr10:8058667 [GRCh38] Chr10:8100630 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.924+3_924+6del	deletion	Hypoparathyroidism, deafness, renal disease syndrome [RCV003340972]	Chr10:8064139..8064142 [GRCh38] Chr10:8106102..8106105 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.639_648del (p.Ser214fs)	deletion	Hypoparathyroidism, deafness, renal disease syndrome [RCV003333552]	Chr10:8058701..8058710 [GRCh38] Chr10:8100664..8100673 [GRCh37] Chr10:10p14	likely pathogenic
NM_001002295.2(GATA3):c.431G>A (p.Gly144Asp)	single nucleotide variant	not provided [RCV003875376]	Chr10:8058494 [GRCh38] Chr10:8100457 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.52G>A (p.Val18Met)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV003447909]	Chr10:8055707 [GRCh38] Chr10:8097670 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.629G>A (p.Gly210Glu)	single nucleotide variant	GATA3-related condition [RCV003412321]	Chr10:8058692 [GRCh38] Chr10:8100655 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.1083C>T (p.Gly361=)	single nucleotide variant	GATA3-related condition [RCV003427965]	Chr10:8073771 [GRCh38] Chr10:8115734 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.112G>C (p.Ala38Pro)	single nucleotide variant	not provided [RCV003417209]	Chr10:8055767 [GRCh38] Chr10:8097730 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.838A>G (p.Thr280Ala)	single nucleotide variant	not provided [RCV003417210]	Chr10:8064052 [GRCh38] Chr10:8106015 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.568dup (p.Leu190fs)	duplication	not provided [RCV003579482]	Chr10:8058627..8058628 [GRCh38] Chr10:8100590..8100591 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.925-9del	deletion	not provided [RCV003825193]	Chr10:8069461 [GRCh38] Chr10:8111424 [GRCh37] Chr10:10p14	benign
NM_001002295.2(GATA3):c.825G>A (p.Trp275Ter)	single nucleotide variant	not provided [RCV003577297]	Chr10:8064039 [GRCh38] Chr10:8106002 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.877A>G (p.Lys293Glu)	single nucleotide variant	not provided [RCV003695477]	Chr10:8064091 [GRCh38] Chr10:8106054 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.778+13T>C	single nucleotide variant	not provided [RCV003716435]	Chr10:8058854 [GRCh38] Chr10:8100817 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.527C>T (p.Ala176Val)	single nucleotide variant	not provided [RCV003830306]	Chr10:8058590 [GRCh38] Chr10:8100553 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.1051-14del	deletion	not provided [RCV003659766]	Chr10:8073724 [GRCh38] Chr10:8115687 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.732C>G (p.Pro244=)	single nucleotide variant	not provided [RCV003660273]	Chr10:8058795 [GRCh38] Chr10:8100758 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.691T>C (p.Ser231Pro)	single nucleotide variant	not provided [RCV003666295]	Chr10:8058754 [GRCh38] Chr10:8100717 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.322A>G (p.Thr108Ala)	single nucleotide variant	not provided [RCV003664032]	Chr10:8058385 [GRCh38] Chr10:8100348 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.778+5G>T	single nucleotide variant	not provided [RCV003697811]	Chr10:8058846 [GRCh38] Chr10:8100809 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.1240A>G (p.Ser414Gly)	single nucleotide variant	not provided [RCV003724676]	Chr10:8073928 [GRCh38] Chr10:8115891 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.147G>A (p.Val49=)	single nucleotide variant	not provided [RCV003726334]	Chr10:8055802 [GRCh38] Chr10:8097765 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.163G>A (p.Gly55Ser)	single nucleotide variant	not provided [RCV003851213]	Chr10:8055818 [GRCh38] Chr10:8097781 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.55C>T (p.Leu19Phe)	single nucleotide variant	not provided [RCV003672539]	Chr10:8055710 [GRCh38] Chr10:8097673 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.383G>A (p.Gly128Glu)	single nucleotide variant	not provided [RCV003832757]	Chr10:8058446 [GRCh38] Chr10:8100409 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.399C>T (p.Tyr133=)	single nucleotide variant	not provided [RCV003836802]	Chr10:8058462 [GRCh38] Chr10:8100425 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.373G>A (p.Gly125Ser)	single nucleotide variant	not provided [RCV003700990]	Chr10:8058436 [GRCh38] Chr10:8100399 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.333del (p.Trp112fs)	deletion	not provided [RCV003700088]	Chr10:8058392 [GRCh38] Chr10:8100355 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.948G>T (p.Thr316=)	single nucleotide variant	not provided [RCV003710147]	Chr10:8069496 [GRCh38] Chr10:8111459 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.188A>G (p.Tyr63Cys)	single nucleotide variant	not provided [RCV003731086]	Chr10:8055843 [GRCh38] Chr10:8097806 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.279_289del (p.Leu94fs)	deletion	not provided [RCV003711788]	Chr10:8058341..8058351 [GRCh38] Chr10:8100304..8100314 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.800G>C (p.Cys267Ser)	single nucleotide variant	not provided [RCV003683021]	Chr10:8064014 [GRCh38] Chr10:8105977 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.1272C>T (p.His424=)	single nucleotide variant	not provided [RCV003843504]	Chr10:8073960 [GRCh38] Chr10:8115923 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.84C>T (p.His28=)	single nucleotide variant	not provided [RCV003554424]	Chr10:8055739 [GRCh38] Chr10:8097702 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.1275G>A (p.Pro425=)	single nucleotide variant	not provided [RCV003738022]	Chr10:8073963 [GRCh38] Chr10:8115926 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.885C>T (p.Asn295=)	single nucleotide variant	not provided [RCV003842999]	Chr10:8064099 [GRCh38] Chr10:8106062 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.78G>T (p.Thr26=)	single nucleotide variant	not provided [RCV003868341]	Chr10:8055733 [GRCh38] Chr10:8097696 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.241+12C>T	single nucleotide variant	not provided [RCV003865267]	Chr10:8055908 [GRCh38] Chr10:8097871 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.280C>T (p.Leu94=)	single nucleotide variant	not provided [RCV003737464]	Chr10:8058343 [GRCh38] Chr10:8100306 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.1092C>T (p.Thr364=)	single nucleotide variant	not provided [RCV003677286]	Chr10:8073780 [GRCh38] Chr10:8115743 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.791G>A (p.Cys264Tyr)	single nucleotide variant	not provided [RCV003719633]	Chr10:8064005 [GRCh38] Chr10:8105968 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.562G>C (p.Val188Leu)	single nucleotide variant	not provided [RCV003730879]	Chr10:8058625 [GRCh38] Chr10:8100588 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.1199A>G (p.His400Arg)	single nucleotide variant	not provided [RCV003566187]	Chr10:8073887 [GRCh38] Chr10:8115850 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.384del (p.Leu130fs)	deletion	not provided [RCV003552191]	Chr10:8058444 [GRCh38] Chr10:8100407 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.849C>A (p.Tyr283Ter)	single nucleotide variant	not provided [RCV003564227]	Chr10:8064063 [GRCh38] Chr10:8106026 [GRCh37] Chr10:10p14	pathogenic
NM_001002295.2(GATA3):c.307C>G (p.Leu103Val)	single nucleotide variant	not provided [RCV003734490]	Chr10:8058370 [GRCh38] Chr10:8100333 [GRCh37] Chr10:10p14	uncertain significance
NM_001002295.2(GATA3):c.430_431delinsT (p.Gly144fs)	indel	GATA3-related condition [RCV003982547]	Chr10:8058493..8058494 [GRCh38] Chr10:8100456..8100457 [GRCh37] Chr10:10p14	likely pathogenic
NM_001002295.2(GATA3):c.821T>C (p.Leu274Pro)	single nucleotide variant	Hypoparathyroidism, deafness, renal disease syndrome [RCV003985126]	Chr10:8064035 [GRCh38] Chr10:8105998 [GRCh37] Chr10:10p14	likely pathogenic
NM_001002295.2(GATA3):c.723C>G (p.Gly241=)	single nucleotide variant	GATA3-related condition [RCV003894641]	Chr10:8058786 [GRCh38] Chr10:8100749 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.1134A>G (p.Lys378=)	single nucleotide variant	GATA3-related condition [RCV003983465]	Chr10:8073822 [GRCh38] Chr10:8115785 [GRCh37] Chr10:10p14	likely benign
NM_001002295.2(GATA3):c.1019A>G (p.Asn340Ser)	single nucleotide variant	GATA3-related condition [RCV003899127]	Chr10:8069567 [GRCh38] Chr10:8111530 [GRCh37] Chr10:10p14	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1188
Count of miRNA genes:	666
Interacting mature miRNAs:	730
Transcripts:	ENST00000346208, ENST00000379328, ENST00000461472, ENST00000481743
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

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

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

Markers in Region

RH78856

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	8,116,609 - 8,116,794	UniSTS	GRCh37
Build 36	10	8,156,615 - 8,156,800	RGD	NCBI36
Celera	10	8,041,984 - 8,042,169	RGD
Cytogenetic Map	10	p15	UniSTS
HuRef	10	8,034,916 - 8,035,101	UniSTS
GeneMap99-GB4 RH Map	10	71.55	UniSTS
NCBI RH Map	10	171.8	UniSTS

D10S2148

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	8,116,027 - 8,116,124	UniSTS	GRCh37
Build 36	10	8,156,033 - 8,156,130	RGD	NCBI36
Celera	10	8,041,401 - 8,041,498	RGD
Cytogenetic Map	10	p15	UniSTS
HuRef	10	8,034,333 - 8,034,430	UniSTS
Stanford-G3 RH Map	10	454.0	UniSTS
NCBI RH Map	10	182.9	UniSTS
GeneMap99-G3 RH Map	10	454.0	UniSTS

G20258

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	8,116,286 - 8,116,395	UniSTS	GRCh37
Build 36	10	8,156,292 - 8,156,401	RGD	NCBI36
Celera	10	8,041,661 - 8,041,770	RGD
Cytogenetic Map	10	p15	UniSTS
HuRef	10	8,034,593 - 8,034,702	UniSTS

A005A11

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	8,116,286 - 8,116,395	UniSTS	GRCh37
Build 36	10	8,156,292 - 8,156,401	RGD	NCBI36
Celera	10	8,041,661 - 8,041,770	RGD
Cytogenetic Map	10	p15	UniSTS
HuRef	10	8,034,593 - 8,034,702	UniSTS
GeneMap99-GB4 RH Map	10	60.51	UniSTS
NCBI RH Map	10	173.9	UniSTS

GATA3_1519

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	8,115,702 - 8,116,589	UniSTS	GRCh37
Build 36	10	8,155,708 - 8,156,595	RGD	NCBI36
Celera	10	8,041,076 - 8,041,964	RGD
HuRef	10	8,034,008 - 8,034,896	UniSTS

SHGC-34122

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	8,116,989 - 8,117,116	UniSTS	GRCh37
Build 36	10	8,156,995 - 8,157,122	RGD	NCBI36
Celera	10	8,042,364 - 8,042,491	RGD
Cytogenetic Map	10	p15	UniSTS
HuRef	10	8,035,296 - 8,035,423	UniSTS
GeneMap99-GB4 RH Map	10	71.94	UniSTS
Whitehead-RH Map	10	63.1	UniSTS
GeneMap99-G3 RH Map	10	412.0	UniSTS

RH17471

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	8,116,990 - 8,117,116	UniSTS	GRCh37
Build 36	10	8,156,996 - 8,157,122	RGD	NCBI36
Celera	10	8,042,365 - 8,042,491	RGD
Cytogenetic Map	10	p15	UniSTS
HuRef	10	8,035,297 - 8,035,423	UniSTS
GeneMap99-GB4 RH Map	10	60.51	UniSTS
NCBI RH Map	10	172.9	UniSTS

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

115

214

404

1381

155

220

378

245

707

Low

1613

2162

1395

438

1361

346

2196

1764

907

162

617

1291

1136

1402

Below cutoff

765

699

110

109

122

103

754

411

2400

453

672

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_015859	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001002295	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_002051	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005252442	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005252443	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047425044	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047425045	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054365528	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054365529	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054365530	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054365531	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054365532	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AI024501	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI686327	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK298213	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL390294	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY497006	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC003070	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC006793	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC006839	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BG287052	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM152193	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471072	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068268	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FB571433	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FB571435	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HI179114	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HI179116	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	JC009146	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT583933	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC461691	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M69106	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X55037	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X55122	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X58072	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X73519	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000346208 ⟹ ENSP00000341619

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	8,054,810 - 8,074,890 (+)	Ensembl

RefSeq Acc Id:

ENST00000379328 ⟹ ENSP00000368632

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	8,054,688 - 8,075,198 (+)	Ensembl

RefSeq Acc Id:

ENST00000461472

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	8,058,399 - 8,074,064 (+)	Ensembl

RefSeq Acc Id:

ENST00000481743 ⟹ ENSP00000493486

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	8,053,604 - 8,058,494 (+)	Ensembl

RefSeq Acc Id:

ENST00000643001 ⟹ ENSP00000494284

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	8,045,378 - 8,055,896 (+)	Ensembl

RefSeq Acc Id:

NM_001002295 ⟹ NP_001002295

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	8,054,688 - 8,075,198 (+)	NCBI
GRCh37	10	8,087,294 - 8,117,164 (+)	NCBI
Build 36	10	8,136,673 - 8,157,170 (+)	NCBI Archive
HuRef	10	8,015,002 - 8,035,471 (+)	ENTREZGENE
CHM1_1	10	8,096,969 - 8,117,441 (+)	NCBI
T2T-CHM13v2.0	10	8,055,568 - 8,076,094 (+)	NCBI

Sequence:

show sequence

GAACACTGAGCTGCCTGGCGCCGTCTTGATACTTTCAGAAAGAATGCATTCCCTGTAAAAAAAA
AAAAAAAATACTGAGAGAGGGAGAGAGAGAGAGAAGAAGAGAGAGAGACGGAGGGAGAGCGAGA
CAGAGCGAGCAACGCAATCTGACCGAGCAGGTCGTACGCCGCCGCCTCCTCCTCCTCTCTGCTC
TTCGCTACCCAGGTGACCCGAGGAGGGACTCCGCCTCCGAGCGGCTGAGGACCCCGGTGCAGAG
GAGCCTGGCTCGCAGAATTGCAGAGTCGTCGCCCCTTTTTACAACCTGGTCCCGTTTTATTCTG
CCGTACCCAGTTTTTGGATTTTTGTCTTCCCCTTCTTCTCTTTGCTAAACGACCCCTCCAAGAT
AATTTTTAAAAAACCTTCTCCTTTGCTCACCTTTGCTTCCCAGCCTTCCCATCCCCCCACCGAA
AGCAAATCATTCAACGACCCCCGACCCTCCGACGGCAGGAGCCCCCCGACCTCCCAGGCGGACC
GCCCTCCCTCCCCGCGCGCGGGTTCCGGGCCCGGCGAGAGGGCGCGAGCACAGCCGAGGCCATG
GAGGTGACGGCGGACCAGCCGCGCTGGGTGAGCCACCACCACCCCGCCGTGCTCAACGGGCAGC
ACCCGGACACGCACCACCCGGGCCTCAGCCACTCCTACATGGACGCGGCGCAGTACCCGCTGCC
GGAGGAGGTGGATGTGCTTTTTAACATCGACGGTCAAGGCAACCACGTCCCGCCCTACTACGGA
AACTCGGTCAGGGCCACGGTGCAGAGGTACCCTCCGACCCACCACGGGAGCCAGGTGTGCCGCC
CGCCTCTGCTTCATGGATCCCTACCCTGGCTGGACGGCGGCAAAGCCCTGGGCAGCCACCACAC
CGCCTCCCCCTGGAATCTCAGCCCCTTCTCCAAGACGTCCATCCACCACGGCTCCCCGGGGCCC
CTCTCCGTCTACCCCCCGGCCTCGTCCTCCTCCTTGTCGGGGGGCCACGCCAGCCCGCACCTCT
TCACCTTCCCGCCCACCCCGCCGAAGGACGTCTCCCCGGACCCATCGCTGTCCACCCCAGGCTC
GGCCGGCTCGGCCCGGCAGGACGAGAAAGAGTGCCTCAAGTACCAGGTGCCCCTGCCCGACAGC
ATGAAGCTGGAGTCGTCCCACTCCCGTGGCAGCATGACCGCCCTGGGTGGAGCCTCCTCGTCGA
CCCACCACCCCATCACCACCTACCCGCCCTACGTGCCCGAGTACAGCTCCGGACTCTTCCCCCC
CAGCAGCCTGCTGGGCGGCTCCCCCACCGGCTTCGGATGCAAGTCCAGGCCCAAGGCCCGGTCC
AGCACAGAAGGCAGGGAGTGTGTGAACTGTGGGGCAACCTCGACCCCACTGTGGCGGCGAGATG
GCACGGGACACTACCTGTGCAACGCCTGCGGGCTCTATCACAAAATGAACGGACAGAACCGGCC
CCTCATTAAGCCCAAGCGAAGGCTGTCTGCAGCCAGGAGAGCAGGGACGTCCTGTGCGAACTGT
CAGACCACCACAACCACACTCTGGAGGAGGAATGCCAATGGGGACCCTGTCTGCAATGCCTGTG
GGCTCTACTACAAGCTTCACAATATTAACAGACCCCTGACTATGAAGAAGGAAGGCATCCAGAC
CAGAAACCGAAAAATGTCTAGCAAATCCAAAAAGTGCAAAAAAGTGCATGACTCACTGGAGGAC
TTCCCCAAGAACAGCTCGTTTAACCCGGCCGCCCTCTCCAGACACATGTCCTCCCTGAGCCACA
TCTCGCCCTTCAGCCACTCCAGCCACATGCTGACCACGCCCACGCCGATGCACCCGCCATCCAG
CCTGTCCTTTGGACCACACCACCCCTCCAGCATGGTCACCGCCATGGGTTAGAGCCCTGCTCGA
TGCTCACAGGGCCCCCAGCGAGAGTCCCTGCAGTCCCTTTCGACTTGCATTTTTGCAGGAGCAG
TATCATGAAGCCTAAACGCGATGGATATATGTTTTTGAAGGCAGAAAGCAAAATTATGTTTGCC
ACTTTGCAAAGGAGCTCACTGTGGTGTCTGTGTTCCAACCACTGAATCTGGACCCCATCTGTGA
ATAAGCCATTCTGACTCATATCCCCTATTTAACAGGGTCTCTAGTGCTGTGAAAAAAAAAATGC
TGAACATTGCATATAACTTATATTGTAAGAAATACTGTACAATGACTTTATTGCATCTGGGTAG
CTGTAAGGCATGAAGGATGCCAAGAAGTTTAAGGAATATGGGAGAAATAGTGTGGAAATTAAGA
AGAAACTAGGTCTGATATTCAAATGGACAAACTGCCAGTTTTGTTTCCTTTCACTGGCCACAGT
TGTTTGATGCATTAAAAGAAAATAAAAAAAAGAAAAAAGAGAAAAGAAAAAAAAAGAAAAAAGT
TGTAGGCGAATCATTTGTTCAAAGCTGTTGGCCTCTGCAAAGGAAATACCAGTTCTGGGCAATC
AGTGTTACCGTTCACCAGTTGCCGTTGAGGGTTTCAGAGAGCCTTTTTCTAGGCCTACATGCTT
TGTGAACAAGTCCCTGTAATTGTTGTTTGTATGTATAATTCAAAGCACCAAAATAAGAAAAGAT
GTAGATTTATTTCATCATATTATACAGACCGAACTGTTGTATAAATTTATTTACTGCTAGTCTT
AAGAACTGCTTTCTTTCGTTTGTTTGTTTCAATATTTTCCTTCTCTCTCAATTTTTGGTTGAAT
AAACTAGATTACATTCAGTTGGCCTAAGGTGGTTGTGCTCGGAGGGTTTCTTGTTTCTTTTCCA
TTTTGTTTTTGGATGATATTTATTAAATAGCTTCTAAGAGTCCGGCGGCATCTGTCTTGTCCCT
ATTCCTGCAGCCTGTGCTGAGGGTAGCAGTGTATGAGCTACCAGCGTGCATGTCAGCGACCCTG
GCCCGACAGGCCACGTCCTGCAATCGGCCCGGCTGCCTCTTCGCCCTGTCGTGTTCTGTGTTAG
TGATCACTGCCTTTAATACAGTCTGTTGGAATAATATTATAAGCATAATAATAAAGTGAAAATA
TTTTAAAACTA

hide sequence

RefSeq Acc Id:

NM_002051 ⟹ NP_002042

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	8,054,688 - 8,075,198 (+)	NCBI
GRCh37	10	8,087,294 - 8,117,164 (+)	NCBI
Build 36	10	8,136,673 - 8,157,170 (+)	NCBI Archive
HuRef	10	8,015,002 - 8,035,471 (+)	ENTREZGENE
CHM1_1	10	8,096,969 - 8,117,441 (+)	NCBI
T2T-CHM13v2.0	10	8,055,568 - 8,076,094 (+)	NCBI

Sequence:

show sequence

GAACACTGAGCTGCCTGGCGCCGTCTTGATACTTTCAGAAAGAATGCATTCCCTGTAAAAAAAA
AAAAAAAATACTGAGAGAGGGAGAGAGAGAGAGAAGAAGAGAGAGAGACGGAGGGAGAGCGAGA
CAGAGCGAGCAACGCAATCTGACCGAGCAGGTCGTACGCCGCCGCCTCCTCCTCCTCTCTGCTC
TTCGCTACCCAGGTGACCCGAGGAGGGACTCCGCCTCCGAGCGGCTGAGGACCCCGGTGCAGAG
GAGCCTGGCTCGCAGAATTGCAGAGTCGTCGCCCCTTTTTACAACCTGGTCCCGTTTTATTCTG
CCGTACCCAGTTTTTGGATTTTTGTCTTCCCCTTCTTCTCTTTGCTAAACGACCCCTCCAAGAT
AATTTTTAAAAAACCTTCTCCTTTGCTCACCTTTGCTTCCCAGCCTTCCCATCCCCCCACCGAA
AGCAAATCATTCAACGACCCCCGACCCTCCGACGGCAGGAGCCCCCCGACCTCCCAGGCGGACC
GCCCTCCCTCCCCGCGCGCGGGTTCCGGGCCCGGCGAGAGGGCGCGAGCACAGCCGAGGCCATG
GAGGTGACGGCGGACCAGCCGCGCTGGGTGAGCCACCACCACCCCGCCGTGCTCAACGGGCAGC
ACCCGGACACGCACCACCCGGGCCTCAGCCACTCCTACATGGACGCGGCGCAGTACCCGCTGCC
GGAGGAGGTGGATGTGCTTTTTAACATCGACGGTCAAGGCAACCACGTCCCGCCCTACTACGGA
AACTCGGTCAGGGCCACGGTGCAGAGGTACCCTCCGACCCACCACGGGAGCCAGGTGTGCCGCC
CGCCTCTGCTTCATGGATCCCTACCCTGGCTGGACGGCGGCAAAGCCCTGGGCAGCCACCACAC
CGCCTCCCCCTGGAATCTCAGCCCCTTCTCCAAGACGTCCATCCACCACGGCTCCCCGGGGCCC
CTCTCCGTCTACCCCCCGGCCTCGTCCTCCTCCTTGTCGGGGGGCCACGCCAGCCCGCACCTCT
TCACCTTCCCGCCCACCCCGCCGAAGGACGTCTCCCCGGACCCATCGCTGTCCACCCCAGGCTC
GGCCGGCTCGGCCCGGCAGGACGAGAAAGAGTGCCTCAAGTACCAGGTGCCCCTGCCCGACAGC
ATGAAGCTGGAGTCGTCCCACTCCCGTGGCAGCATGACCGCCCTGGGTGGAGCCTCCTCGTCGA
CCCACCACCCCATCACCACCTACCCGCCCTACGTGCCCGAGTACAGCTCCGGACTCTTCCCCCC
CAGCAGCCTGCTGGGCGGCTCCCCCACCGGCTTCGGATGCAAGTCCAGGCCCAAGGCCCGGTCC
AGCACAGGCAGGGAGTGTGTGAACTGTGGGGCAACCTCGACCCCACTGTGGCGGCGAGATGGCA
CGGGACACTACCTGTGCAACGCCTGCGGGCTCTATCACAAAATGAACGGACAGAACCGGCCCCT
CATTAAGCCCAAGCGAAGGCTGTCTGCAGCCAGGAGAGCAGGGACGTCCTGTGCGAACTGTCAG
ACCACCACAACCACACTCTGGAGGAGGAATGCCAATGGGGACCCTGTCTGCAATGCCTGTGGGC
TCTACTACAAGCTTCACAATATTAACAGACCCCTGACTATGAAGAAGGAAGGCATCCAGACCAG
AAACCGAAAAATGTCTAGCAAATCCAAAAAGTGCAAAAAAGTGCATGACTCACTGGAGGACTTC
CCCAAGAACAGCTCGTTTAACCCGGCCGCCCTCTCCAGACACATGTCCTCCCTGAGCCACATCT
CGCCCTTCAGCCACTCCAGCCACATGCTGACCACGCCCACGCCGATGCACCCGCCATCCAGCCT
GTCCTTTGGACCACACCACCCCTCCAGCATGGTCACCGCCATGGGTTAGAGCCCTGCTCGATGC
TCACAGGGCCCCCAGCGAGAGTCCCTGCAGTCCCTTTCGACTTGCATTTTTGCAGGAGCAGTAT
CATGAAGCCTAAACGCGATGGATATATGTTTTTGAAGGCAGAAAGCAAAATTATGTTTGCCACT
TTGCAAAGGAGCTCACTGTGGTGTCTGTGTTCCAACCACTGAATCTGGACCCCATCTGTGAATA
AGCCATTCTGACTCATATCCCCTATTTAACAGGGTCTCTAGTGCTGTGAAAAAAAAAATGCTGA
ACATTGCATATAACTTATATTGTAAGAAATACTGTACAATGACTTTATTGCATCTGGGTAGCTG
TAAGGCATGAAGGATGCCAAGAAGTTTAAGGAATATGGGAGAAATAGTGTGGAAATTAAGAAGA
AACTAGGTCTGATATTCAAATGGACAAACTGCCAGTTTTGTTTCCTTTCACTGGCCACAGTTGT
TTGATGCATTAAAAGAAAATAAAAAAAAGAAAAAAGAGAAAAGAAAAAAAAAGAAAAAAGTTGT
AGGCGAATCATTTGTTCAAAGCTGTTGGCCTCTGCAAAGGAAATACCAGTTCTGGGCAATCAGT
GTTACCGTTCACCAGTTGCCGTTGAGGGTTTCAGAGAGCCTTTTTCTAGGCCTACATGCTTTGT
GAACAAGTCCCTGTAATTGTTGTTTGTATGTATAATTCAAAGCACCAAAATAAGAAAAGATGTA
GATTTATTTCATCATATTATACAGACCGAACTGTTGTATAAATTTATTTACTGCTAGTCTTAAG
AACTGCTTTCTTTCGTTTGTTTGTTTCAATATTTTCCTTCTCTCTCAATTTTTGGTTGAATAAA
CTAGATTACATTCAGTTGGCCTAAGGTGGTTGTGCTCGGAGGGTTTCTTGTTTCTTTTCCATTT
TGTTTTTGGATGATATTTATTAAATAGCTTCTAAGAGTCCGGCGGCATCTGTCTTGTCCCTATT
CCTGCAGCCTGTGCTGAGGGTAGCAGTGTATGAGCTACCAGCGTGCATGTCAGCGACCCTGGCC
CGACAGGCCACGTCCTGCAATCGGCCCGGCTGCCTCTTCGCCCTGTCGTGTTCTGTGTTAGTGA
TCACTGCCTTTAATACAGTCTGTTGGAATAATATTATAAGCATAATAATAAAGTGAAAATATTT
TAAAACTA

hide sequence

RefSeq Acc Id:

XM_005252442 ⟹ XP_005252499

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	8,051,236 - 8,075,198 (+)	NCBI
GRCh37	10	8,087,294 - 8,117,164 (+)	NCBI

Sequence:

show sequence

GCCTCGGAGCCGCGTGCCCTCCGCCCCGGGGTGCCCATTGCGCAGAGCGTGGCCTGGAGACCCG
CGAGCCGGGGAAGGTCGCCGTGGAGTCCCGACCAGAGGCCGGGGTTGGGGTCGGTGCAGACCGA
GGGCTGGTTTCCTTGACTGTGGGAGAAACGCCGGGAGCCGGAGTGACCCGAGGAGGGACTCCGC
CTCCGAGCGGCTGAGGACCCCGGTGCAGAGGAGCCTGGCTCGCAGAATTGCAGAGTCGTCGCCC
CTTTTTACAACCTGGTCCCGTTTTATTCTGCCGTACCCAGTTTTTGGATTTTTGTCTTCCCCTT
CTTCTCTTTGCTAAACGACCCCTCCAAGATAATTTTTAAAAAACCTTCTCCTTTGCTCACCTTT
GCTTCCCAGCCTTCCCATCCCCCCACCGAAAGCAAATCATTCAACGACCCCCGACCCTCCGACG
GCAGGAGCCCCCCGACCTCCCAGGCGGACCGCCCTCCCTCCCCGCGCGCGGGTTCCGGGCCCGG
CGAGAGGGCGCGAGCACAGCCGAGGCCATGGAGGTGACGGCGGACCAGCCGCGCTGGGTGAGCC
ACCACCACCCCGCCGTGCTCAACGGGCAGCACCCGGACACGCACCACCCGGGCCTCAGCCACTC
CTACATGGACGCGGCGCAGTACCCGCTGCCGGAGGAGGTGGATGTGCTTTTTAACATCGACGGT
CAAGGCAACCACGTCCCGCCCTACTACGGAAACTCGGTCAGGGCCACGGTGCAGAGGTACCCTC
CGACCCACCACGGGAGCCAGGTGTGCCGCCCGCCTCTGCTTCATGGATCCCTACCCTGGCTGGA
CGGCGGCAAAGCCCTGGGCAGCCACCACACCGCCTCCCCCTGGAATCTCAGCCCCTTCTCCAAG
ACGTCCATCCACCACGGCTCCCCGGGGCCCCTCTCCGTCTACCCCCCGGCCTCGTCCTCCTCCT
TGTCGGGGGGCCACGCCAGCCCGCACCTCTTCACCTTCCCGCCCACCCCGCCGAAGGACGTCTC
CCCGGACCCATCGCTGTCCACCCCAGGCTCGGCCGGCTCGGCCCGGCAGGACGAGAAAGAGTGC
CTCAAGTACCAGGTGCCCCTGCCCGACAGCATGAAGCTGGAGTCGTCCCACTCCCGTGGCAGCA
TGACCGCCCTGGGTGGAGCCTCCTCGTCGACCCACCACCCCATCACCACCTACCCGCCCTACGT
GCCCGAGTACAGCTCCGGACTCTTCCCCCCCAGCAGCCTGCTGGGCGGCTCCCCCACCGGCTTC
GGATGCAAGTCCAGGCCCAAGGCCCGGTCCAGCACAGAAGGCAGGGAGTGTGTGAACTGTGGGG
CAACCTCGACCCCACTGTGGCGGCGAGATGGCACGGGACACTACCTGTGCAACGCCTGCGGGCT
CTATCACAAAATGAACGGACAGAACCGGCCCCTCATTAAGCCCAAGCGAAGGCTGTCTGCAGCC
AGGAGAGCAGGGACGTCCTGTGCGAACTGTCAGACCACCACAACCACACTCTGGAGGAGGAATG
CCAATGGGGACCCTGTCTGCAATGCCTGTGGGCTCTACTACAAGCTTCACAATATTAACAGACC
CCTGACTATGAAGAAGGAAGGCATCCAGACCAGAAACCGAAAAATGTCTAGCAAATCCAAAAAG
TGCAAAAAAGTGCATGACTCACTGGAGGACTTCCCCAAGAACAGCTCGTTTAACCCGGCCGCCC
TCTCCAGACACATGTCCTCCCTGAGCCACATCTCGCCCTTCAGCCACTCCAGCCACATGCTGAC
CACGCCCACGCCGATGCACCCGCCATCCAGCCTGTCCTTTGGACCACACCACCCCTCCAGCATG
GTCACCGCCATGGGTTAGAGCCCTGCTCGATGCTCACAGGGCCCCCAGCGAGAGTCCCTGCAGT
CCCTTTCGACTTGCATTTTTGCAGGAGCAGTATCATGAAGCCTAAACGCGATGGATATATGTTT
TTGAAGGCAGAAAGCAAAATTATGTTTGCCACTTTGCAAAGGAGCTCACTGTGGTGTCTGTGTT
CCAACCACTGAATCTGGACCCCATCTGTGAATAAGCCATTCTGACTCATATCCCCTATTTAACA
GGGTCTCTAGTGCTGTGAAAAAAAAAATGCTGAACATTGCATATAACTTATATTGTAAGAAATA
CTGTACAATGACTTTATTGCATCTGGGTAGCTGTAAGGCATGAAGGATGCCAAGAAGTTTAAGG
AATATGGGAGAAATAGTGTGGAAATTAAGAAGAAACTAGGTCTGATATTCAAATGGACAAACTG
CCAGTTTTGTTTCCTTTCACTGGCCACAGTTGTTTGATGCATTAAAAGAAAATAAAAAAAAGAA
AAAAGAGAAAAGAAAAAAAAAGAAAAAAGTTGTAGGCGAATCATTTGTTCAAAGCTGTTGGCCT
CTGCAAAGGAAATACCAGTTCTGGGCAATCAGTGTTACCGTTCACCAGTTGCCGTTGAGGGTTT
CAGAGAGCCTTTTTCTAGGCCTACATGCTTTGTGAACAAGTCCCTGTAATTGTTGTTTGTATGT
ATAATTCAAAGCACCAAAATAAGAAAAGATGTAGATTTATTTCATCATATTATACAGACCGAAC
TGTTGTATAAATTTATTTACTGCTAGTCTTAAGAACTGCTTTCTTTCGTTTGTTTGTTTCAATA
TTTTCCTTCTCTCTCAATTTTTGGTTGAATAAACTAGATTACATTCAGTTGGCCTAA

hide sequence

RefSeq Acc Id:

XM_005252443 ⟹ XP_005252500

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	8,045,333 - 8,075,198 (+)	NCBI
GRCh37	10	8,087,294 - 8,117,164 (+)	NCBI

Sequence:

show sequence

AGTGGCGAACTCTGCCTGTCATTTCTGCCTTCAGATCTCCGGGCGAGTCAGGAAAAAAAATAAA
AAACAGCTGGCCCTCGGGAGCGAGCTGCCCAGGTGACCCGAGGAGGGACTCCGCCTCCGAGCGG
CTGAGGACCCCGGTGCAGAGGAGCCTGGCTCGCAGAATTGCAGAGTCGTCGCCCCTTTTTACAA
CCTGGTCCCGTTTTATTCTGCCGTACCCAGTTTTTGGATTTTTGTCTTCCCCTTCTTCTCTTTG
CTAAACGACCCCTCCAAGATAATTTTTAAAAAACCTTCTCCTTTGCTCACCTTTGCTTCCCAGC
CTTCCCATCCCCCCACCGAAAGCAAATCATTCAACGACCCCCGACCCTCCGACGGCAGGAGCCC
CCCGACCTCCCAGGCGGACCGCCCTCCCTCCCCGCGCGCGGGTTCCGGGCCCGGCGAGAGGGCG
CGAGCACAGCCGAGGCCATGGAGGTGACGGCGGACCAGCCGCGCTGGGTGAGCCACCACCACCC
CGCCGTGCTCAACGGGCAGCACCCGGACACGCACCACCCGGGCCTCAGCCACTCCTACATGGAC
GCGGCGCAGTACCCGCTGCCGGAGGAGGTGGATGTGCTTTTTAACATCGACGGTCAAGGCAACC
ACGTCCCGCCCTACTACGGAAACTCGGTCAGGGCCACGGTGCAGAGGTACCCTCCGACCCACCA
CGGGAGCCAGGTGTGCCGCCCGCCTCTGCTTCATGGATCCCTACCCTGGCTGGACGGCGGCAAA
GCCCTGGGCAGCCACCACACCGCCTCCCCCTGGAATCTCAGCCCCTTCTCCAAGACGTCCATCC
ACCACGGCTCCCCGGGGCCCCTCTCCGTCTACCCCCCGGCCTCGTCCTCCTCCTTGTCGGGGGG
CCACGCCAGCCCGCACCTCTTCACCTTCCCGCCCACCCCGCCGAAGGACGTCTCCCCGGACCCA
TCGCTGTCCACCCCAGGCTCGGCCGGCTCGGCCCGGCAGGACGAGAAAGAGTGCCTCAAGTACC
AGGTGCCCCTGCCCGACAGCATGAAGCTGGAGTCGTCCCACTCCCGTGGCAGCATGACCGCCCT
GGGTGGAGCCTCCTCGTCGACCCACCACCCCATCACCACCTACCCGCCCTACGTGCCCGAGTAC
AGCTCCGGACTCTTCCCCCCCAGCAGCCTGCTGGGCGGCTCCCCCACCGGCTTCGGATGCAAGT
CCAGGCCCAAGGCCCGGTCCAGCACAGAAGGCAGGGAGTGTGTGAACTGTGGGGCAACCTCGAC
CCCACTGTGGCGGCGAGATGGCACGGGACACTACCTGTGCAACGCCTGCGGGCTCTATCACAAA
ATGAACGGACAGAACCGGCCCCTCATTAAGCCCAAGCGAAGGCTGTCTGCAGCCAGGAGAGCAG
GGACGTCCTGTGCGAACTGTCAGACCACCACAACCACACTCTGGAGGAGGAATGCCAATGGGGA
CCCTGTCTGCAATGCCTGTGGGCTCTACTACAAGCTTCACAATATTAACAGACCCCTGACTATG
AAGAAGGAAGGCATCCAGACCAGAAACCGAAAAATGTCTAGCAAATCCAAAAAGTGCAAAAAAG
TGCATGACTCACTGGAGGACTTCCCCAAGAACAGCTCGTTTAACCCGGCCGCCCTCTCCAGACA
CATGTCCTCCCTGAGCCACATCTCGCCCTTCAGCCACTCCAGCCACATGCTGACCACGCCCACG
CCGATGCACCCGCCATCCAGCCTGTCCTTTGGACCACACCACCCCTCCAGCATGGTCACCGCCA
TGGGTTAGAGCCCTGCTCGATGCTCACAGGGCCCCCAGCGAGAGTCCCTGCAGTCCCTTTCGAC
TTGCATTTTTGCAGGAGCAGTATCATGAAGCCTAAACGCGATGGATATATGTTTTTGAAGGCAG
AAAGCAAAATTATGTTTGCCACTTTGCAAAGGAGCTCACTGTGGTGTCTGTGTTCCAACCACTG
AATCTGGACCCCATCTGTGAATAAGCCATTCTGACTCATATCCCCTATTTAACAGGGTCTCTAG
TGCTGTGAAAAAAAAAATGCTGAACATTGCATATAACTTATATTGTAAGAAATACTGTACAATG
ACTTTATTGCATCTGGGTAGCTGTAAGGCATGAAGGATGCCAAGAAGTTTAAGGAATATGGGAG
AAATAGTGTGGAAATTAAGAAGAAACTAGGTCTGATATTCAAATGGACAAACTGCCAGTTTTGT
TTCCTTTCACTGGCCACAGTTGTTTGATGCATTAAAAGAAAATAAAAAAAAGAAAAAAGAGAAA
AGAAAAAAAAAGAAAAAAGTTGTAGGCGAATCATTTGTTCAAAGCTGTTGGCCTCTGCAAAGGA
AATACCAGTTCTGGGCAATCAGTGTTACCGTTCACCAGTTGCCGTTGAGGGTTTCAGAGAGCCT
TTTTCTAGGCCTACATGCTTTGTGAACAAGTCCCTGTAATTGTTGTTTGTATGTATAATTCAAA
GCACCAAAATAAGAAAAGATGTAGATTTATTTCATCATATTATACAGACCGAACTGTTGTATAA
ATTTATTTACTGCTAGTCTTAAGAACTGCTTTCTTTCGTTTGTTTGTTTCAATATTTTCCTTCT
CTCTCAATTTTTGGTTGAATAAACTAGATTACATTCAGTTGGCCTAA

hide sequence

RefSeq Acc Id:

XM_047425044 ⟹ XP_047281000

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	8,051,236 - 8,075,198 (+)	NCBI

RefSeq Acc Id:

XM_047425045 ⟹ XP_047281001

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	8,045,333 - 8,075,198 (+)	NCBI

RefSeq Acc Id:

XM_054365528 ⟹ XP_054221503

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	10	8,046,417 - 8,076,094 (+)	NCBI

RefSeq Acc Id:

XM_054365529 ⟹ XP_054221504

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	10	8,054,458 - 8,076,094 (+)	NCBI

RefSeq Acc Id:

XM_054365530 ⟹ XP_054221505

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	10	8,046,006 - 8,076,094 (+)	NCBI

RefSeq Acc Id:

XM_054365531 ⟹ XP_054221506

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	10	8,054,458 - 8,076,094 (+)	NCBI

RefSeq Acc Id:

XM_054365532 ⟹ XP_054221507

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	10	8,046,004 - 8,076,094 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001002295	(Get FASTA)	NCBI Sequence Viewer
	NP_002042	(Get FASTA)	NCBI Sequence Viewer
	XP_005252499	(Get FASTA)	NCBI Sequence Viewer
	XP_005252500	(Get FASTA)	NCBI Sequence Viewer
	XP_047281000	(Get FASTA)	NCBI Sequence Viewer
	XP_047281001	(Get FASTA)	NCBI Sequence Viewer
	XP_054221503	(Get FASTA)	NCBI Sequence Viewer
	XP_054221504	(Get FASTA)	NCBI Sequence Viewer
	XP_054221505	(Get FASTA)	NCBI Sequence Viewer
	XP_054221506	(Get FASTA)	NCBI Sequence Viewer
	XP_054221507	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA35870	(Get FASTA)	NCBI Sequence Viewer
	AAH03070	(Get FASTA)	NCBI Sequence Viewer
	AAH06793	(Get FASTA)	NCBI Sequence Viewer
	AAR32096	(Get FASTA)	NCBI Sequence Viewer
	BAG60483	(Get FASTA)	NCBI Sequence Viewer
	CAA38877	(Get FASTA)	NCBI Sequence Viewer
	CAA38916	(Get FASTA)	NCBI Sequence Viewer
	CAA41102	(Get FASTA)	NCBI Sequence Viewer
	CAR95134	(Get FASTA)	NCBI Sequence Viewer
	CAR95135	(Get FASTA)	NCBI Sequence Viewer
	CBX53865	(Get FASTA)	NCBI Sequence Viewer
	CBX53866	(Get FASTA)	NCBI Sequence Viewer
	CDL93507	(Get FASTA)	NCBI Sequence Viewer
	EAW86367	(Get FASTA)	NCBI Sequence Viewer
	EAW86368	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000341619
	ENSP00000341619.3
	ENSP00000368632
	ENSP00000368632.3
	ENSP00000493486.1
	ENSP00000494284.1
	ENSP00000515407.1
GenBank Protein	P23771	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001002295 ⟸ NM_001002295
- Peptide Label:	isoform 1
- UniProtKB:	P23771 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MEVTADQPRWVSHHHPAVLNGQHPDTHHPGLSHSYMDAAQYPLPEEVDVLFNIDGQGNHVPPYY GNSVRATVQRYPPTHHGSQVCRPPLLHGSLPWLDGGKALGSHHTASPWNLSPFSKTSIHHGSPG PLSVYPPASSSSLSGGHASPHLFTFPPTPPKDVSPDPSLSTPGSAGSARQDEKECLKYQVPLPD SMKLESSHSRGSMTALGGASSSTHHPITTYPPYVPEYSSGLFPPSSLLGGSPTGFGCKSRPKAR SSTEGRECVNCGATSTPLWRRDGTGHYLCNACGLYHKMNGQNRPLIKPKRRLSAARRAGTSCAN CQTTTTTLWRRNANGDPVCNACGLYYKLHNINRPLTMKKEGIQTRNRKMSSKSKKCKKVHDSLE DFPKNSSFNPAALSRHMSSLSHISPFSHSSHMLTTPTPMHPPSSLSFGPHHPSSMVTAMG hide sequence

RefSeq Acc Id:	NP_002042 ⟸ NM_002051
- Peptide Label:	isoform 2
- UniProtKB:	Q5VWG8 (UniProtKB/Swiss-Prot), Q5VWG7 (UniProtKB/Swiss-Prot), Q96J16 (UniProtKB/Swiss-Prot), P23771 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MEVTADQPRWVSHHHPAVLNGQHPDTHHPGLSHSYMDAAQYPLPEEVDVLFNIDGQGNHVPPYY GNSVRATVQRYPPTHHGSQVCRPPLLHGSLPWLDGGKALGSHHTASPWNLSPFSKTSIHHGSPG PLSVYPPASSSSLSGGHASPHLFTFPPTPPKDVSPDPSLSTPGSAGSARQDEKECLKYQVPLPD SMKLESSHSRGSMTALGGASSSTHHPITTYPPYVPEYSSGLFPPSSLLGGSPTGFGCKSRPKAR SSTGRECVNCGATSTPLWRRDGTGHYLCNACGLYHKMNGQNRPLIKPKRRLSAARRAGTSCANC QTTTTTLWRRNANGDPVCNACGLYYKLHNINRPLTMKKEGIQTRNRKMSSKSKKCKKVHDSLED FPKNSSFNPAALSRHMSSLSHISPFSHSSHMLTTPTPMHPPSSLSFGPHHPSSMVTAMG hide sequence

RefSeq Acc Id:	XP_005252500 ⟸ XM_005252443
- Peptide Label:	isoform X1
- UniProtKB:	P23771 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MEVTADQPRWVSHHHPAVLNGQHPDTHHPGLSHSYMDAAQYPLPEEVDVLFNIDGQGNHVPPYY GNSVRATVQRYPPTHHGSQVCRPPLLHGSLPWLDGGKALGSHHTASPWNLSPFSKTSIHHGSPG PLSVYPPASSSSLSGGHASPHLFTFPPTPPKDVSPDPSLSTPGSAGSARQDEKECLKYQVPLPD SMKLESSHSRGSMTALGGASSSTHHPITTYPPYVPEYSSGLFPPSSLLGGSPTGFGCKSRPKAR SSTEGRECVNCGATSTPLWRRDGTGHYLCNACGLYHKMNGQNRPLIKPKRRLSAARRAGTSCAN CQTTTTTLWRRNANGDPVCNACGLYYKLHNINRPLTMKKEGIQTRNRKMSSKSKKCKKVHDSLE DFPKNSSFNPAALSRHMSSLSHISPFSHSSHMLTTPTPMHPPSSLSFGPHHPSSMVTAMG hide sequence

RefSeq Acc Id:	XP_005252499 ⟸ XM_005252442
- Peptide Label:	isoform X1
- UniProtKB:	P23771 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MEVTADQPRWVSHHHPAVLNGQHPDTHHPGLSHSYMDAAQYPLPEEVDVLFNIDGQGNHVPPYY GNSVRATVQRYPPTHHGSQVCRPPLLHGSLPWLDGGKALGSHHTASPWNLSPFSKTSIHHGSPG PLSVYPPASSSSLSGGHASPHLFTFPPTPPKDVSPDPSLSTPGSAGSARQDEKECLKYQVPLPD SMKLESSHSRGSMTALGGASSSTHHPITTYPPYVPEYSSGLFPPSSLLGGSPTGFGCKSRPKAR SSTEGRECVNCGATSTPLWRRDGTGHYLCNACGLYHKMNGQNRPLIKPKRRLSAARRAGTSCAN CQTTTTTLWRRNANGDPVCNACGLYYKLHNINRPLTMKKEGIQTRNRKMSSKSKKCKKVHDSLE DFPKNSSFNPAALSRHMSSLSHISPFSHSSHMLTTPTPMHPPSSLSFGPHHPSSMVTAMG hide sequence

RefSeq Acc Id:

ENSP00000341619 ⟸ ENST00000346208

RefSeq Acc Id:

ENSP00000493486 ⟸ ENST00000481743

RefSeq Acc Id:

ENSP00000368632 ⟸ ENST00000379328

RefSeq Acc Id:

ENSP00000494284 ⟸ ENST00000643001

RefSeq Acc Id:	XP_047281001 ⟸ XM_047425045
- Peptide Label:	isoform X2
- UniProtKB:	Q5VWG8 (UniProtKB/Swiss-Prot), Q5VWG7 (UniProtKB/Swiss-Prot), P23771 (UniProtKB/Swiss-Prot), Q96J16 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_047281000 ⟸ XM_047425044
- Peptide Label:	isoform X2
- UniProtKB:	Q5VWG8 (UniProtKB/Swiss-Prot), Q5VWG7 (UniProtKB/Swiss-Prot), P23771 (UniProtKB/Swiss-Prot), Q96J16 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054221507 ⟸ XM_054365532
- Peptide Label:	isoform X2
- UniProtKB:	Q96J16 (UniProtKB/Swiss-Prot), Q5VWG8 (UniProtKB/Swiss-Prot), Q5VWG7 (UniProtKB/Swiss-Prot), P23771 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054221505 ⟸ XM_054365530
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054221503 ⟸ XM_054365528
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054221504 ⟸ XM_054365529
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054221506 ⟸ XM_054365531
- Peptide Label:	isoform X2
- UniProtKB:	Q96J16 (UniProtKB/Swiss-Prot), Q5VWG8 (UniProtKB/Swiss-Prot), Q5VWG7 (UniProtKB/Swiss-Prot), P23771 (UniProtKB/Swiss-Prot)

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P23771-F1-model_v2	AlphaFold	P23771	1-443	view protein structure

Promoters

RGD ID:

7216955

Promoter ID:

EPDNEW_H14223

Type:

initiation region

Name:

GATA3_3

Description:

GATA binding protein 3

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H14224 EPDNEW_H14225 EPDNEW_H14226

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	8,045,333 - 8,045,393	EPDNEW

RGD ID:

7216957

Promoter ID:

EPDNEW_H14224

Type:

initiation region

Name:

GATA3_1

Description:

GATA binding protein 3

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H14223 EPDNEW_H14225 EPDNEW_H14226

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	8,054,688 - 8,054,748	EPDNEW

RGD ID:

7216959

Promoter ID:

EPDNEW_H14225

Type:

initiation region

Name:

GATA3_2

Description:

GATA binding protein 3

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H14223 EPDNEW_H14224 EPDNEW_H14226

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	8,054,817 - 8,054,877	EPDNEW

RGD ID:

7216961

Promoter ID:

EPDNEW_H14226

Type:

initiation region

Name:

GATA3_4

Description:

GATA binding protein 3

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H14223 EPDNEW_H14224 EPDNEW_H14225

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	8,055,366 - 8,055,426	EPDNEW

RGD ID:

6787734

Promoter ID:

HG_KWN:8540

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, HeLa_S3, Jurkat, Lymphoblastoid

Transcripts:

NR_024255, NR_024256, OTTHUMT00000046720, OTTHUMT00000046722, OTTHUMT00000046723, OTTHUMT00000346865, OTTHUMT00000346866

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	10	8,133,916 - 8,135,747 (-)	MPROMDB

RGD ID:

6787721

Promoter ID:

HG_KWN:8541

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, Jurkat, Lymphoblastoid

Transcripts:

NM_002051, OTTHUMT00000046718

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	10	8,135,781 - 8,137,122 (+)	MPROMDB

RGD ID:

6814487

Promoter ID:

HG_XEF:835

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, Lymphoblastoid

Transcripts:

NM_001004967, NM_001008444, NM_001044567, NM_001076804, NM_001090866, NM_001104718, NM_001171800, NM_131211, NM_133293

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	10	8,137,171 - 8,137,857 (+)	MPROMDB

RGD ID:

6787722

Promoter ID:

HG_KWN:8542

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell

Transcripts:

OTTHUMT00000046721

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	10	8,140,196 - 8,140,696 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:4172	AgrOrtholog
COSMIC	GATA3	COSMIC
Ensembl Genes	ENSG00000107485	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000346208	ENTREZGENE
	ENST00000346208.4	UniProtKB/Swiss-Prot
	ENST00000379328	ENTREZGENE
	ENST00000379328.9	UniProtKB/Swiss-Prot
	ENST00000461472.1	UniProtKB/TrEMBL
	ENST00000481743.2	UniProtKB/TrEMBL
	ENST00000643001.1	UniProtKB/TrEMBL
Gene3D-CATH	3.30.50.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000107485	GTEx
HGNC ID	HGNC:4172	ENTREZGENE
Human Proteome Map	GATA3	Human Proteome Map
InterPro	TF_GATA-2/3	UniProtKB/Swiss-Prot
	Transcription_factor_GATA	UniProtKB/Swiss-Prot
	Znf_GATA	UniProtKB/Swiss-Prot
	Znf_NHR/GATA	UniProtKB/Swiss-Prot
KEGG Report	hsa:2625	UniProtKB/Swiss-Prot
NCBI Gene	2625	ENTREZGENE
OMIM	131320	OMIM
PANTHER	PTHR10071	UniProtKB/Swiss-Prot
	PTHR10071:SF106	UniProtKB/Swiss-Prot
Pfam	GATA	UniProtKB/Swiss-Prot
PharmGKB	PA28586	PharmGKB
PIRSF	TF_GATA-1/2/3	UniProtKB/Swiss-Prot
PRINTS	GATAZNFINGER	UniProtKB/Swiss-Prot
PROSITE	GATA_ZN_FINGER_1	UniProtKB/Swiss-Prot
	GATA_ZN_FINGER_2	UniProtKB/Swiss-Prot
SMART	ZnF_GATA	UniProtKB/Swiss-Prot
Superfamily-SCOP	Glucocorticoid receptor-like (DNA-binding domain)	UniProtKB/Swiss-Prot
UniProt	A0A2R8Y2A9_HUMAN	UniProtKB/TrEMBL
	A0A2R8Y4T2_HUMAN	UniProtKB/TrEMBL
	A0A994J6H6_HUMAN	UniProtKB/TrEMBL
	GATA3_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q5VWG7	ENTREZGENE
	Q5VWG8	ENTREZGENE
	Q96J16	ENTREZGENE
UniProt Secondary	Q5VWG7	UniProtKB/Swiss-Prot
	Q5VWG8	UniProtKB/Swiss-Prot
	Q96J16	UniProtKB/Swiss-Prot

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MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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