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Gene: ITPR3 (inositol 1,4,5-trisphosphate receptor type 3) Homo sapiens

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Symbol:

ITPR3

Name:

inositol 1,4,5-trisphosphate receptor type 3

RGD ID:

733997

HGNC Page

HGNC:6182

Description:

Enables inositol 1,4,5 trisphosphate binding activity and inositol 1,4,5-trisphosphate-gated calcium channel activity. Involved in several processes, including platelet activation; protein homotetramerization; and response to calcium ion. Located in endoplasmic reticulum membrane and plasma membrane. Part of receptor complex. Implicated in Charcot-Marie-Tooth disease and type 1 diabetes mellitus. Biomarker of gestational diabetes and pre-eclampsia.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

CMT1J; FLJ36205; inositol 1,4,5-triphosphate receptor, type 3; Inositol 1,4,5-trisphosphate receptor type 3 (Type 3 inositol 1,4,5-trisphosphate receptor) (Type 3 InsP3 receptor) (IP3 receptor isoform 3) (InsP3R3); inositol 1,4,5-trisphosphate receptor, type 3; inositol 1,4,5-trisphosphate-gated calcium channel ITPR3; insP3R3; IP3 receptor; IP3R; IP3R 3; IP3R-3; IP3R3; LOC105375023; type 3 inositol 1,4,5-trisphosphate receptor; type 3 InsP3 receptor; uncharacterized LOC105375023

RGD Orthologs

Alliance Orthologs

More Info

more info ...

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	6	33,621,322 - 33,696,562 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	33,620,365 - 33,696,574 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	33,589,099 - 33,664,339 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	33,697,139 - 33,772,329 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	33,697,321 - 33,772,317	NCBI
Celera	6	35,143,559 - 35,218,741 (+)	NCBI		Celera
Cytogenetic Map	6	p21.31	NCBI
HuRef	6	33,330,927 - 33,406,007 (+)	NCBI		HuRef
CHM1_1	6	33,591,516 - 33,666,641 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	6	33,442,464 - 33,517,747 (+)	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

acrodermatitis (EXP)

Animal Disease Models (EXP)

autism spectrum disorder (EXP,ISS)

autistic disorder (EXP)

autosomal dominant intellectual developmental disorder 5 (IAGP)

Charcot-Marie-Tooth Disease Type 1J (IAGP)

gestational diabetes (IEP)

long QT syndrome (IAGP)

pre-eclampsia (IEP)

proteasome-associated autoinflammatory syndrome 1 (IAGP)

type 1 diabetes mellitus (EXP,IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(1->4)-beta-D-glucan (ISO)

1,1-dichloroethene (ISO)

2,3',4,4',5-Pentachlorobiphenyl (ISO)

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

2,4-dibromophenyl 2,4,5-tribromophenyl ether (EXP)

2-butoxyethanol (ISO)

2-palmitoylglycerol (EXP)

3,3',4,4',5-pentachlorobiphenyl (ISO)

3-chloropropane-1,2-diol (ISO)

3-isobutyl-1-methyl-7H-xanthine (EXP)

4,4'-sulfonyldiphenol (EXP,ISO)

4-hydroxyphenyl retinamide (ISO)

5-aza-2'-deoxycytidine (EXP)

acetamide (ISO)

acetylleucyl-leucyl-norleucinal (ISO)

acrylamide (ISO)

Adenophostin A (ISO)

aflatoxin B1 (EXP,ISO)

Aflatoxin B2 alpha (EXP)

agomelatine (ISO)

all-trans-retinoic acid (EXP,ISO)

alpha-D-galactose (ISO)

ammonium chloride (ISO)

amphetamine (ISO)

antirheumatic drug (EXP)

Aroclor 1254 (ISO)

arsenite(3-) (EXP,ISO)

atrazine (EXP,ISO)

Azoxymethane (ISO)

benzo[a]pyrene (EXP)

bis(2-ethylhexyl) phthalate (EXP)

bisphenol A (EXP,ISO)

bisphenol F (EXP,ISO)

C60 fullerene (ISO)

cadmium atom (ISO)

cadmium dichloride (ISO)

caffeine (EXP)

calcium atom (ISO)

calcium oxalate (ISO)

calcium(0) (ISO)

choline (ISO)

chromium(6+) (EXP)

cisplatin (EXP,ISO)

clofibrate (ISO)

cobalt dichloride (EXP)

copper atom (EXP)

copper(0) (EXP)

copper(II) sulfate (EXP)

coumarin (EXP)

cyclosporin A (EXP)

D-aspartic acid (ISO)

dexamethasone (EXP)

dextran sulfate (ISO)

Dibutyl phosphate (EXP)

dibutyl phthalate (ISO)

dichlorine (ISO)

dorsomorphin (EXP)

doxorubicin (EXP)

entinostat (EXP)

ethanol (ISO)

fenvalerate (ISO)

fipronil (ISO)

flavonoids (ISO)

folic acid (ISO)

FR900359 (EXP)

fulvestrant (EXP)

galactose (ISO)

genistein (ISO)

glyoxylic acid (ISO)

glyphosate (EXP)

halothane (ISO)

Heptachlor epoxide (ISO)

hydrogen peroxide (EXP)

indometacin (EXP)

ivermectin (EXP)

L-glutamic acid (ISO)

L-methionine (ISO)

leflunomide (EXP)

linsidomine (ISO)

melatonin (ISO)

menadione (EXP)

methotrexate (EXP)

methoxychlor (ISO)

methylmercury chloride (ISO)

monosodium L-glutamate (ISO)

N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal (ISO)

nickel sulfate (EXP)

O-methyleugenol (EXP)

ozone (ISO)

paracetamol (EXP,ISO)

perfluorohexanesulfonic acid (ISO)

perfluorooctane-1-sulfonic acid (ISO)

perfluorooctanoic acid (EXP)

phenobarbital (ISO)

pirinixic acid (ISO)

quercetin (EXP)

raloxifene (EXP)

resveratrol (EXP)

SB 431542 (EXP)

sodium arsenite (ISO)

streptozocin (ISO)

tamibarotene (EXP)

tamoxifen (EXP)

temozolomide (EXP)

tert-butyl hydroperoxide (EXP)

thapsigargin (EXP)

thimerosal (EXP)

titanium dioxide (ISO)

tributylstannane (ISO)

trichostatin A (EXP)

triphenyl phosphate (EXP)

Triptolide (ISO)

tris(2-butoxyethyl) phosphate (EXP)

tungsten (ISO)

undecane (ISO)

valproic acid (EXP,ISO)

vanadyl sulfate (EXP)

vinclozolin (ISO)

XL147 (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

calcium ion homeostasis (IMP)

calcium ion transmembrane transport (IEA)

calcium ion transport (IEA,ISO)

calcium-mediated signaling (IEA)

cellular response to cAMP (ISO)

G protein-coupled receptor signaling pathway (ISO,ISS)

long-term synaptic potentiation (IEA,ISO)

memory (IEA,ISO)

platelet activation (IDA)

positive regulation of cytosolic calcium ion concentration (ISO,ISS)

protein homotetramerization (IDA)

release of sequestered calcium ion into cytosol (IBA,IDA,IEA)

response to calcium ion (IDA)

sensory perception of bitter taste (IEA,ISO)

sensory perception of sweet taste (IEA,ISO)

sensory perception of taste (TAS)

sensory perception of umami taste (IEA,ISO)

Cellular Component

apical part of cell (ISS)

apical plasma membrane (ISO)

brush border (ISS)

cytoplasm (IEA,ISS)

cytoplasmic side of endoplasmic reticulum membrane (IEA,ISS)

cytoplasmic vesicle (IEA)

dendrite (ISO)

endomembrane system (IEA)

endoplasmic reticulum (IEA,ISS)

endoplasmic reticulum membrane (IBA,IDA,IEA,ISO,ISS,TAS)

membrane (HDA,IEA)

neuronal cell body (ISO,ISS)

nuclear envelope (ISO)

nuclear outer membrane (ISO,ISS)

nucleolus (IEA)

nucleoplasm (IEA)

nucleus (IEA)

perinuclear region of cytoplasm (ISO)

plasma membrane (IBA,IDA)

platelet dense tubular network membrane (TAS)

presynapse (ISO)

receptor complex (IDA)

sarcoplasmic reticulum (IBA)

secretory granule membrane (IBA)

transport vesicle membrane (IEA)

Molecular Function

ATP binding (IDA)

calcium channel activity (IEA)

calcium ion binding (IBA,IDA,ISO)

identical protein binding (ISO)

inositol 1,3,4,5 tetrakisphosphate binding (ISO,ISS)

inositol 1,4,5 trisphosphate binding (IBA,IDA,IEA,ISO)

inositol 1,4,5-trisphosphate-gated calcium channel activity (IBA,IDA,IEA,ISO,ISS)

inositol hexakisphosphate binding (ISO,ISS)

intracellularly gated calcium channel activity (IEA,ISS,TAS)

phosphatidylinositol binding (IBA,IEA)

protein binding (IPI)

protein-containing complex binding (ISO)

zinc ion binding (IDA)

Molecular Pathway Annotations Click to see Annotation Detail View

Alzheimer's disease pathway (IEA)

calcium transport pathway (TAS)

calcium/calcium-mediated signaling pathway (TAS)

glutamate signaling pathway (IEA)

gonadotropin-releasing hormone signaling pathway (IEA)

long term depression (IEA)

long term potentiation (IEA)

phosphatidylinositol 3-kinase signaling pathway (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Areflexia of lower limbs (IAGP)

Autoimmunity (IAGP)

Autosomal dominant inheritance (IAGP)

Childhood onset (IAGP)

Decreased level of 1,5 anhydroglucitol in serum (IAGP)

Decreased motor nerve conduction velocity (IAGP)

Diabetes mellitus (IAGP)

Distal muscle weakness (IAGP)

Distal sensory impairment (IAGP)

Esophageal atresia (IAGP)

Gait disturbance (IAGP)

Hammertoe (IAGP)

Hyperglycemia (IAGP)

Ketoacidosis (IAGP)

Middle age onset (IAGP)

Peripheral neuropathy (IAGP)

Pes cavus (IAGP)

Polydipsia (IAGP)

Polyphagia (IAGP)

Polyuria (IAGP)

Thenar muscle atrophy (IAGP)

Young adult onset (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
3.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
4.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
6.	Regulation of inositol 1,4,5-trisphosphate-induced Ca2+ release by reversible phosphorylation and dephosphorylation.	Vanderheyden V, etal., Biochim Biophys Acta. 2009 Jun;1793(6):959-70. doi: 10.1016/j.bbamcr.2008.12.003. Epub 2008 Dec 16.
7.	Disrupted placental vitamin D metabolism and calcium signaling in gestational diabetes and pre-eclampsia patients.	Varshney S, etal., Endocrine. 2023 Apr;80(1):191-200. doi: 10.1007/s12020-022-03272-9. Epub 2022 Dec 8.

Additional References at PubMed

PMID:1693919	PMID:7559486	PMID:8081734	PMID:8288584	PMID:8385102	PMID:8388391	PMID:10611319	PMID:10692497	PMID:10828023	PMID:10843712	PMID:10874040	PMID:10980191
PMID:11035010	PMID:11149946	PMID:11163362	PMID:11290752	PMID:11413485	PMID:11524429	PMID:12032348	PMID:12477932	PMID:12606721	PMID:14666665	PMID:14685260	PMID:14702039
PMID:14707143	PMID:15051494	PMID:15613488	PMID:15623527	PMID:16960798	PMID:17081983	PMID:17437169	PMID:17496801	PMID:18219441	PMID:18250332	PMID:18275062	PMID:18340361
PMID:18434505	PMID:18539593	PMID:18544901	PMID:18586264	PMID:18826956	PMID:19050248	PMID:19052258	PMID:19193873	PMID:19389623	PMID:19553259	PMID:19553469	PMID:19706527
PMID:19730683	PMID:19851445	PMID:19913121	PMID:19946888	PMID:20103623	PMID:20379614	PMID:20395455	PMID:20427533	PMID:20558539	PMID:20618519	PMID:20628086	PMID:20660057
PMID:20881960	PMID:21062895	PMID:21075448	PMID:21501587	PMID:21762810	PMID:21873635	PMID:21875593	PMID:21900946	PMID:22082873	PMID:22100703	PMID:22199357	PMID:22552281
PMID:22586326	PMID:22939629	PMID:23382219	PMID:23618877	PMID:23722424	PMID:23850713	PMID:23955339	PMID:23983250	PMID:23992640	PMID:24285081	PMID:24469450	PMID:24711643
PMID:24904548	PMID:25378392	PMID:25796361	PMID:25966694	PMID:25996873	PMID:26009177	PMID:26186194	PMID:26496610	PMID:26514267	PMID:26687479	PMID:27684187	PMID:27880917
PMID:28036301	PMID:28276505	PMID:28514442	PMID:28614300	PMID:28614305	PMID:28675297	PMID:28692057	PMID:29117863	PMID:29395067	PMID:29395920	PMID:29507755	PMID:29509190
PMID:29630900	PMID:30013099	PMID:30021884	PMID:30042492	PMID:30141207	PMID:30196744	PMID:30355490	PMID:30804502	PMID:30833792	PMID:31056421	PMID:31073040	PMID:31091453
PMID:31180492	PMID:31182584	PMID:31247352	PMID:31315892	PMID:31586073	PMID:31767755	PMID:31871319	PMID:31915246	PMID:31979185	PMID:31980649	PMID:32176739	PMID:32614325
PMID:32707033	PMID:32780723	PMID:32788342	PMID:32838362	PMID:32877691	PMID:32916960	PMID:32938669	PMID:32949214	PMID:33005030	PMID:33022573	PMID:33111431	PMID:33400994
PMID:33573671	PMID:33644029	PMID:33957083	PMID:33961781	PMID:34079125	PMID:34226595	PMID:34244565	PMID:34432599	PMID:34591612	PMID:34672947	PMID:34709727	PMID:34798470
PMID:34964862	PMID:35271311	PMID:35439318	PMID:35748872	PMID:36215168	PMID:36217030	PMID:36302985	PMID:36350267	PMID:36526897	PMID:36574265	PMID:36662618	PMID:37314216
PMID:37774976	PMID:37827155	PMID:37898605	PMID:37931956	PMID:38496616	PMID:39270020

Genomics

Comparative Map Data

ITPR3
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	33,621,322 - 33,696,562 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	33,620,365 - 33,696,574 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	33,589,099 - 33,664,339 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	33,697,139 - 33,772,329 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	33,697,321 - 33,772,317	NCBI
Celera	6	35,143,559 - 35,218,741 (+)	NCBI		Celera
Cytogenetic Map	6	p21.31	NCBI
HuRef	6	33,330,927 - 33,406,007 (+)	NCBI		HuRef
CHM1_1	6	33,591,516 - 33,666,641 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	6	33,442,464 - 33,517,747 (+)	NCBI		T2T-CHM13v2.0

Itpr3
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	17	27,275,976 - 27,341,197 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	17	27,276,278 - 27,341,197 (+)	Ensembl		GRCm39 Ensembl
GRCm38	17	27,057,002 - 27,122,223 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	17	27,057,304 - 27,122,223 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	17	27,194,249 - 27,259,168 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	17	26,785,125 - 26,849,812 (+)	NCBI		MGSCv36	mm8
Celera	17	27,593,736 - 27,658,505 (+)	NCBI		Celera
Cytogenetic Map	17	A3.3	NCBI
cM Map	17	13.68	NCBI

Itpr3
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	20	5,138,553 - 5,204,189 (+)	NCBI		GRCr8
mRatBN7.2	20	5,136,968 - 5,202,339 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	20	5,136,441 - 5,202,337 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	20	5,862,755 - 5,927,561 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	20	5,224,499 - 5,289,310 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	20	5,702,534 - 5,768,607 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	20	5,645,894 - 5,711,702 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	20	5,646,097 - 5,711,702 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	20	7,711,508 - 7,775,357 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	20	5,292,430 - 5,357,502 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	20	5,292,656 - 5,357,727 (+)	NCBI
Celera	20	6,717,488 - 6,781,775 (+)	NCBI		Celera
Cytogenetic Map	20	p12	NCBI

Itpr3
(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_004955437	2,055,805 - 2,106,076 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955437	2,055,782 - 2,106,709 (+)	NCBI	ChiLan1.0	ChiLan1.0

ITPR3
(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	5	48,100,235 - 48,175,494 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	6	43,967,322 - 44,042,624 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	6	33,194,531 - 33,269,788 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	6	34,303,454 - 34,378,220 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	6	34,303,454 - 34,378,215 (+)	Ensembl	panpan1.1		panPan2

ITPR3
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	12	2,970,613 - 3,050,254 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	12	2,805,187 - 3,048,938 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	12	2,997,254 - 3,066,455 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	12	3,313,122 - 3,382,514 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	12	3,313,138 - 3,381,269 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	12	2,980,128 - 3,049,212 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	12	3,061,183 - 3,130,533 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	12	3,159,323 - 3,228,541 (+)	NCBI		UU_Cfam_GSD_1.0

Itpr3
(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_024404946	38,641,843 - 38,705,335 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936476	25,254,932 - 25,318,491 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936476	25,254,937 - 25,318,316 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ITPR3
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	7	29,835,922 - 29,901,309 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	7	29,835,922 - 29,901,305 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	7	34,443,858 - 34,509,094 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ITPR3
(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	17	38,381,862 - 38,456,505 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	17	38,381,743 - 38,456,499 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666044	33,459,448 - 33,535,324 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Itpr3
(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_004624754	23,229,281 - 23,281,621 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624754	23,228,690 - 23,281,552 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in ITPR3
416 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_002224.3(ITPR3):c.90-7383C>T	single nucleotide variant	Lung cancer [RCV000096832]	Chr6:33633101 [GRCh38] Chr6:33600878 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.3(ITPR3):c.6834C>T (p.Ile2278=)	single nucleotide variant	Malignant melanoma [RCV000067318]	Chr6:33689377 [GRCh38] Chr6:33657154 [GRCh37] Chr6:33765132 [NCBI36] Chr6:6p21.31	not provided
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	copy number gain	See cases [RCV000143497]	Chr6:156974..46789291 [GRCh38] Chr6:156974..46757028 [GRCh37] Chr6:101974..46864987 [NCBI36] Chr6:6p25.3-12.3	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	copy number gain	See cases [RCV000512067]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	copy number gain	See cases [RCV000510595]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
NM_002224.4(ITPR3):c.5657G>A (p.Arg1886Gln)	single nucleotide variant	not specified [RCV004301938]	Chr6:33685817 [GRCh38] Chr6:33653594 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.7607C>T (p.Thr2536Met)	single nucleotide variant	not specified [RCV004306769]	Chr6:33692876 [GRCh38] Chr6:33660653 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.6080A>G (p.Asp2027Gly)	single nucleotide variant	not specified [RCV004295167]	Chr6:33687230 [GRCh38] Chr6:33655007 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.5486G>T (p.Arg1829Leu)	single nucleotide variant	not specified [RCV004327127]	Chr6:33685646 [GRCh38] Chr6:33653423 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.3406G>A (p.Gly1136Ser)	single nucleotide variant	not specified [RCV004303805]	Chr6:33676891 [GRCh38] Chr6:33644668 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.2011C>T (p.Arg671Trp)	single nucleotide variant	not specified [RCV004298310]	Chr6:33668978 [GRCh38] Chr6:33636755 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.3853C>T (p.His1285Tyr)	single nucleotide variant	not specified [RCV004308736]	Chr6:33678720 [GRCh38] Chr6:33646497 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.4402G>A (p.Val1468Met)	single nucleotide variant	not provided [RCV000659051]	Chr6:33680606 [GRCh38] Chr6:33648383 [GRCh37] Chr6:6p21.31	uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3	copy number gain	not provided [RCV000745403]	Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27	pathogenic
NM_002224.4(ITPR3):c.2729-46G>C	single nucleotide variant	not provided [RCV001540185]	Chr6:33671983 [GRCh38] Chr6:33639760 [GRCh37] Chr6:6p21.31	benign
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3	copy number gain	not provided [RCV000745400]	Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3	copy number gain	not provided [RCV000745404]	Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27	pathogenic
NM_002224.4(ITPR3):c.283-108del	deletion	not provided [RCV001644386]	Chr6:33657824 [GRCh38] Chr6:33625601 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.2190-205A>C	single nucleotide variant	not provided [RCV001540573]	Chr6:33670120 [GRCh38] Chr6:33637897 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.3059-29T>C	single nucleotide variant	not provided [RCV001665686]	Chr6:33674179 [GRCh38] Chr6:33641956 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.5668-5C>T	single nucleotide variant	not provided [RCV000916750]	Chr6:33686048 [GRCh38] Chr6:33653825 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.3772-41C>T	single nucleotide variant	not provided [RCV001645155]	Chr6:33678598 [GRCh38] Chr6:33646375 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.6264+32_6264+35dup	duplication	not provided [RCV001680575]	Chr6:33687592..33687593 [GRCh38] Chr6:33655369..33655370 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.4842G>C (p.Leu1614=)	single nucleotide variant	not provided [RCV000917241]	Chr6:33684073 [GRCh38] Chr6:33651850 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.4477-99T>C	single nucleotide variant	not provided [RCV001668942]	Chr6:33682425 [GRCh38] Chr6:33650202 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.7236G>C (p.Leu2412=)	single nucleotide variant	not provided [RCV000897176]	Chr6:33691625 [GRCh38] Chr6:33659402 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.5868+8G>C	single nucleotide variant	not provided [RCV000941703]	Chr6:33686261 [GRCh38] Chr6:33654038 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.3161T>C (p.Met1054Thr)	single nucleotide variant	ITPR3-related disorder [RCV003926136]\|not provided [RCV000960879]	Chr6:33675735 [GRCh38] Chr6:33643512 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.4476+204G>A	single nucleotide variant	not provided [RCV001648932]	Chr6:33680884 [GRCh38] Chr6:33648661 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.6283C>T (p.Gln2095Ter)	single nucleotide variant	not provided [RCV003239216]	Chr6:33688075 [GRCh38] Chr6:33655852 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.3721G>A (p.Gly1241Ser)	single nucleotide variant	not specified [RCV004294029]	Chr6:33678493 [GRCh38] Chr6:33646270 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.7459-134G>A	single nucleotide variant	not provided [RCV001643891]	Chr6:33692594 [GRCh38] Chr6:33660371 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.3448-24T>C	single nucleotide variant	not provided [RCV001681240]	Chr6:33676991 [GRCh38] Chr6:33644768 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.282+158G>A	single nucleotide variant	not provided [RCV001692884]	Chr6:33656045 [GRCh38] Chr6:33623822 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.528C>T (p.Asn176=)	single nucleotide variant	not provided [RCV000906690]	Chr6:33658828 [GRCh38] Chr6:33626605 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.1713+7C>T	single nucleotide variant	ITPR3-related disorder [RCV003923088]\|not provided [RCV000906691]	Chr6:33667297 [GRCh38] Chr6:33635074 [GRCh37] Chr6:6p21.31	benign\|likely benign
NM_002224.4(ITPR3):c.2047C>T (p.Leu683=)	single nucleotide variant	not provided [RCV000975261]	Chr6:33669014 [GRCh38] Chr6:33636791 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.3048C>T (p.Phe1016=)	single nucleotide variant	not provided [RCV000884316]	Chr6:33673710 [GRCh38] Chr6:33641487 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.7608G>A (p.Thr2536=)	single nucleotide variant	ITPR3-related disorder [RCV003936093]\|not provided [RCV000970133]	Chr6:33692877 [GRCh38] Chr6:33660654 [GRCh37] Chr6:6p21.31	benign\|likely benign
NM_002224.4(ITPR3):c.1110C>T (p.Asp370=)	single nucleotide variant	ITPR3-related disorder [RCV003912862]\|not provided [RCV000900828]	Chr6:33663842 [GRCh38] Chr6:33631619 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.3990C>T (p.Asp1330=)	single nucleotide variant	ITPR3-related disorder [RCV003943002]\|not provided [RCV000946935]	Chr6:33679899 [GRCh38] Chr6:33647676 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.4347= (p.Ala1449=)	variation	not provided [RCV000949509]	Chr6:33680451 [GRCh38] Chr6:33648228 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.3915C>T (p.Thr1305=)	single nucleotide variant	ITPR3-related disorder [RCV003950612]\|not provided [RCV000903521]	Chr6:33678782 [GRCh38] Chr6:33646559 [GRCh37] Chr6:6p21.31	benign\|likely benign
NM_002224.4(ITPR3):c.2499C>G (p.Thr833=)	single nucleotide variant	not provided [RCV000921368]	Chr6:33670728 [GRCh38] Chr6:33638505 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.7356G>A (p.Glu2452=)	single nucleotide variant	not provided [RCV000921369]	Chr6:33691826 [GRCh38] Chr6:33659603 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.5109G>C (p.Arg1703=)	single nucleotide variant	not provided [RCV000921339]	Chr6:33684660 [GRCh38] Chr6:33652437 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.5307+10G>T	single nucleotide variant	not provided [RCV000925233]	Chr6:33684953 [GRCh38] Chr6:33652730 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.4014T>A (p.Asp1338Glu)	single nucleotide variant	ITPR3-related disorder [RCV003958114]\|not provided [RCV000899354]	Chr6:33679923 [GRCh38] Chr6:33647700 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.4225-3C>T	single nucleotide variant	ITPR3-related disorder [RCV003940501]\|not provided [RCV000884605]	Chr6:33680326 [GRCh38] Chr6:33648103 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.5037C>T (p.Tyr1679=)	single nucleotide variant	not provided [RCV000884606]	Chr6:33684456 [GRCh38] Chr6:33652233 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.774G>C (p.Lys258Asn)	single nucleotide variant	Esophageal atresia [RCV000984659]	Chr6:33662590 [GRCh38] Chr6:33630367 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.3762C>T (p.Leu1254=)	single nucleotide variant	not provided [RCV000983387]	Chr6:33678534 [GRCh38] Chr6:33646311 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.7032+7C>A	single nucleotide variant	not provided [RCV000926212]	Chr6:33690205 [GRCh38] Chr6:33657982 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.1341C>T (p.Asp447=)	single nucleotide variant	ITPR3-related disorder [RCV003920654]\|not provided [RCV000886112]	Chr6:33665145 [GRCh38] Chr6:33632922 [GRCh37] Chr6:6p21.31	benign\|likely benign
NM_002224.4(ITPR3):c.288G>A (p.Ala96=)	single nucleotide variant	not provided [RCV000939701]	Chr6:33657937 [GRCh38] Chr6:33625714 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.5808C>T (p.Leu1936=)	single nucleotide variant	not provided [RCV000966993]	Chr6:33686193 [GRCh38] Chr6:33653970 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.5121C>T (p.Pro1707=)	single nucleotide variant	ITPR3-related disorder [RCV003960415]\|not provided [RCV000922568]	Chr6:33684672 [GRCh38] Chr6:33652449 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.6883G>A (p.Val2295Met)	single nucleotide variant	ITPR3-related disorder [RCV003895440]\|not provided [RCV000888598]	Chr6:33690049 [GRCh38] Chr6:33657826 [GRCh37] Chr6:6p21.31	benign\|likely benign
NM_002224.4(ITPR3):c.4317G>A (p.Thr1439=)	single nucleotide variant	ITPR3-related disorder [RCV003912971]\|not provided [RCV000908380]	Chr6:33680421 [GRCh38] Chr6:33648198 [GRCh37] Chr6:6p21.31	benign\|likely benign
NM_002224.4(ITPR3):c.1148+10C>T	single nucleotide variant	ITPR3-related disorder [RCV003978004]\|not provided [RCV000915531]	Chr6:33663890 [GRCh38] Chr6:33631667 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.4023G>A (p.Ser1341=)	single nucleotide variant	not provided [RCV000917240]	Chr6:33679932 [GRCh38] Chr6:33647709 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.2016C>G (p.Pro672=)	single nucleotide variant	not provided [RCV000898158]	Chr6:33668983 [GRCh38] Chr6:33636760 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.4587C>T (p.Leu1529=)	single nucleotide variant	ITPR3-related disorder [RCV003935991]\|not provided [RCV000965002]	Chr6:33682634 [GRCh38] Chr6:33650411 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.5456G>A (p.Arg1819His)	single nucleotide variant	ITPR3-related disorder [RCV003920790]\|not provided [RCV000892866]	Chr6:33685507 [GRCh38] Chr6:33653284 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.3448-7C>G	single nucleotide variant	not provided [RCV000961143]	Chr6:33677008 [GRCh38] Chr6:33644785 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.3858C>T (p.Phe1286=)	single nucleotide variant	ITPR3-related disorder [RCV003948306]\|not provided [RCV000880807]	Chr6:33678725 [GRCh38] Chr6:33646502 [GRCh37] Chr6:6p21.31	benign\|likely benign
NM_002224.4(ITPR3):c.5809G>A (p.Val1937Ile)	single nucleotide variant	not provided [RCV000896639]	Chr6:33686194 [GRCh38] Chr6:33653971 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.3570G>A (p.Arg1190=)	single nucleotide variant	not provided [RCV000906270]	Chr6:33677551 [GRCh38] Chr6:33645328 [GRCh37] Chr6:6p21.31	likely benign
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	copy number gain	not provided [RCV000767714]	Chr6:29455465..81447367 [GRCh37] Chr6:6p22.1-q14.1	pathogenic
NM_002224.4(ITPR3):c.3084C>T (p.Ile1028=)	single nucleotide variant	not provided [RCV000902414]	Chr6:33674233 [GRCh38] Chr6:33642010 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.6696C>T (p.Gly2232=)	single nucleotide variant	ITPR3-related disorder [RCV003936192]\|not provided [RCV000974569]	Chr6:33689239 [GRCh38] Chr6:33657016 [GRCh37] Chr6:6p21.31	benign\|likely benign
NM_002224.4(ITPR3):c.252C>T (p.Ile84=)	single nucleotide variant	not provided [RCV000915300]	Chr6:33655857 [GRCh38] Chr6:33623634 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.1121T>G (p.Leu374Trp)	single nucleotide variant	ITPR3-related disorder [RCV003910694]\|not provided [RCV000897651]	Chr6:33663853 [GRCh38] Chr6:33631630 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.5874C>T (p.Cys1958=)	single nucleotide variant	ITPR3-related disorder [RCV003978386]\|not provided [RCV000962153]	Chr6:33686414 [GRCh38] Chr6:33654191 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.5466C>T (p.Val1822=)	single nucleotide variant	not provided [RCV000980566]	Chr6:33685517 [GRCh38] Chr6:33653294 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.6159C>T (p.Ile2053=)	single nucleotide variant	not provided [RCV000998588]	Chr6:33687309 [GRCh38] Chr6:33655086 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.3283-1G>A	single nucleotide variant	not provided [RCV001092259]	Chr6:33676767 [GRCh38] Chr6:33644544 [GRCh37] Chr6:6p21.31	uncertain significance
NC_000006.12:g.(?_33391986)_(33672228_?)dup	duplication	Intellectual disability, autosomal dominant 5 [RCV001032764]	Chr6:33359763..33640005 [GRCh37] Chr6:6p21.32-21.31	uncertain significance
NM_002224.4(ITPR3):c.7303G>A (p.Gly2435Arg)	single nucleotide variant	not specified [RCV004308378]	Chr6:33691692 [GRCh38] Chr6:33659469 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.6391C>T (p.Arg2131Cys)	single nucleotide variant	Charcot-Marie-Tooth disease, demyelinating, type 1J [RCV003128224]	Chr6:33688254 [GRCh38] Chr6:33656031 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.2940T>C (p.Asn980=)	single nucleotide variant	ITPR3-related disorder [RCV003980847]\|not provided [RCV001641363]	Chr6:33673602 [GRCh38] Chr6:33641379 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.7624+25G>C	single nucleotide variant	not provided [RCV001615423]	Chr6:33692918 [GRCh38] Chr6:33660695 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.6568+42T>C	single nucleotide variant	not provided [RCV001673867]	Chr6:33688473 [GRCh38] Chr6:33656250 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.1148+75G>C	single nucleotide variant	not provided [RCV001666310]	Chr6:33663955 [GRCh38] Chr6:33631732 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.4477-95C>T	single nucleotide variant	not provided [RCV001666470]	Chr6:33682429 [GRCh38] Chr6:33650206 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.3649-50G>A	single nucleotide variant	not provided [RCV001608448]	Chr6:33678371 [GRCh38] Chr6:33646148 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.3207G>A (p.Pro1069=)	single nucleotide variant	ITPR3-related disorder [RCV003975878]\|not provided [RCV001671508]	Chr6:33675781 [GRCh38] Chr6:33675781..33675782 [GRCh38] Chr6:33643558 [GRCh37] Chr6:33643558..33643559 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.6694+96C>G	single nucleotide variant	not provided [RCV001645569]	Chr6:33688877 [GRCh38] Chr6:33656654 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.954+33G>A	single nucleotide variant	not provided [RCV001717686]	Chr6:33663039 [GRCh38] Chr6:33630816 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.4788+148T>C	single nucleotide variant	not provided [RCV001717708]	Chr6:33683545 [GRCh38] Chr6:33651322 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.7786-34C>T	single nucleotide variant	not provided [RCV001717722]	Chr6:33694890 [GRCh38] Chr6:33662667 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.7225+160G>A	single nucleotide variant	not provided [RCV001639714]	Chr6:33691269 [GRCh38] Chr6:33659046 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.7033-142C>A	single nucleotide variant	not provided [RCV001648910]	Chr6:33690775 [GRCh38] Chr6:33658552 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.6695-46G>A	single nucleotide variant	not provided [RCV001685643]	Chr6:33689192 [GRCh38] Chr6:33656969 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.711+41A>G	single nucleotide variant	not provided [RCV001620244]	Chr6:33659590 [GRCh38] Chr6:33627367 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.2007-91C>G	single nucleotide variant	not provided [RCV001656499]	Chr6:33668883 [GRCh38] Chr6:33636660 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.2268C>T (p.Gly756=)	single nucleotide variant	ITPR3-related disorder [RCV003984080]\|not provided [RCV001718345]	Chr6:33670403 [GRCh38] Chr6:33638180 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.2929-174C>T	single nucleotide variant	not provided [RCV001718344]	Chr6:33673417 [GRCh38] Chr6:33641194 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.4597+46C>T	single nucleotide variant	not provided [RCV001718349]	Chr6:33682690 [GRCh38] Chr6:33650467 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.5308-193C>A	single nucleotide variant	not provided [RCV001718350]	Chr6:33685166 [GRCh38] Chr6:33652943 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.7625-100C>G	single nucleotide variant	not provided [RCV001595530]	Chr6:33693445 [GRCh38] Chr6:33661222 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.4476+19A>C	single nucleotide variant	not provided [RCV001644283]	Chr6:33680699 [GRCh38] Chr6:33648476 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.161-34T>C	single nucleotide variant	not provided [RCV001686110]	Chr6:33655732 [GRCh38] Chr6:33623509 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.1148+39G>A	single nucleotide variant	not provided [RCV001683958]	Chr6:33663919 [GRCh38] Chr6:33631696 [GRCh37] Chr6:6p21.31	benign
NC_000006.12:g.33621208C>A	single nucleotide variant	not provided [RCV001698573]	Chr6:33621208 [GRCh38] Chr6:33588985 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.5980-195G>C	single nucleotide variant	not provided [RCV001670650]	Chr6:33686814 [GRCh38] Chr6:33654591 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.977A>G (p.Asp326Gly)	single nucleotide variant	not specified [RCV004333113]	Chr6:33663522 [GRCh38] Chr6:33631299 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.7560C>T (p.Phe2520=)	single nucleotide variant	not provided [RCV000933554]	Chr6:33692829 [GRCh38] Chr6:33660606 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.4167C>T (p.Ser1389=)	single nucleotide variant	ITPR3-related disorder [RCV003913284]\|not provided [RCV000949716]	Chr6:33680076 [GRCh38] Chr6:33647853 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.4185C>T (p.Asp1395=)	single nucleotide variant	ITPR3-related disorder [RCV003925912]\|not provided [RCV000949717]	Chr6:33680094 [GRCh38] Chr6:33647871 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.1551+5G>A	single nucleotide variant	ITPR3-related disorder [RCV003953334]\|not provided [RCV000974067]	Chr6:33665981 [GRCh38] Chr6:33633758 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.4971G>A (p.Ser1657=)	single nucleotide variant	ITPR3-related disorder [RCV003916034]\|not provided [RCV000960880]	Chr6:33684390 [GRCh38] Chr6:33652167 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.5886C>T (p.His1962=)	single nucleotide variant	not provided [RCV000894352]	Chr6:33686426 [GRCh38] Chr6:33654203 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.4527C>T (p.Leu1509=)	single nucleotide variant	ITPR3-related disorder [RCV003932954]\|not provided [RCV000909367]	Chr6:33682574 [GRCh38] Chr6:33650351 [GRCh37] Chr6:6p21.31	benign\|likely benign
NM_002224.4(ITPR3):c.1010C>T (p.Ala337Val)	single nucleotide variant	not provided [RCV000897748]	Chr6:33663742 [GRCh38] Chr6:33631519 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.6096C>A (p.Ala2032=)	single nucleotide variant	not provided [RCV000929915]	Chr6:33687246 [GRCh38] Chr6:33655023 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.5524T>C (p.Tyr1842His)	single nucleotide variant	not provided [RCV000880398]\|not specified [RCV004028292]	Chr6:33685684 [GRCh38] Chr6:33653461 [GRCh37] Chr6:6p21.31	likely benign\|uncertain significance
NM_002224.4(ITPR3):c.2226C>A (p.Asp742Glu)	single nucleotide variant	ITPR3-related disorder [RCV003925997]\|not provided [RCV000954097]	Chr6:33670361 [GRCh38] Chr6:33638138 [GRCh37] Chr6:6p21.31	benign\|likely benign
NM_002224.4(ITPR3):c.6363G>A (p.Thr2121=)	single nucleotide variant	not provided [RCV000940448]	Chr6:33688155 [GRCh38] Chr6:33655932 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.2433C>T (p.Thr811=)	single nucleotide variant	not provided [RCV000933437]	Chr6:33670568 [GRCh38] Chr6:33638345 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.6372C>T (p.Ile2124=)	single nucleotide variant	not provided [RCV000935170]	Chr6:33688164 [GRCh38] Chr6:33655941 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.7192G>C (p.Glu2398Gln)	single nucleotide variant	ITPR3-related disorder [RCV003975620]\|not provided [RCV000890564]	Chr6:33691076 [GRCh38] Chr6:33658853 [GRCh37] Chr6:6p21.31	benign\|likely benign
NM_002224.4(ITPR3):c.4735G>A (p.Val1579Ile)	single nucleotide variant	not provided [RCV000912529]	Chr6:33683344 [GRCh38] Chr6:33651121 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.2586+8G>T	single nucleotide variant	ITPR3-related disorder [RCV003968105]\|not provided [RCV000889898]	Chr6:33670823 [GRCh38] Chr6:33638600 [GRCh37] Chr6:6p21.31	benign\|likely benign
NM_002224.4(ITPR3):c.628-5C>T	single nucleotide variant	ITPR3-related disorder [RCV003950390]\|not provided [RCV000891363]	Chr6:33659461 [GRCh38] Chr6:33627238 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.3514G>A (p.Val1172Ile)	single nucleotide variant	not provided [RCV000889602]	Chr6:33677081 [GRCh38] Chr6:33644858 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.3973-8A>G	single nucleotide variant	ITPR3-related disorder [RCV003980672]\|not provided [RCV001541275]	Chr6:33679874 [GRCh38] Chr6:33647651 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.859-64C>T	single nucleotide variant	not provided [RCV001717685]	Chr6:33662847 [GRCh38] Chr6:33630624 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.1410-85A>G	single nucleotide variant	not provided [RCV001717688]	Chr6:33665750 [GRCh38] Chr6:33633527 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.7033-160G>A	single nucleotide variant	not provided [RCV001717718]	Chr6:33690757 [GRCh38] Chr6:33658534 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.7330+40A>G	single nucleotide variant	not provided [RCV001717721]	Chr6:33691759 [GRCh38] Chr6:33659536 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.3648+51C>G	single nucleotide variant	not provided [RCV001677918]	Chr6:33677680 [GRCh38] Chr6:33645457 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.4054G>A (p.Ala1352Thr)	single nucleotide variant	not specified [RCV004312545]	Chr6:33679963 [GRCh38] Chr6:33647740 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.3281A>G (p.Gln1094Arg)	single nucleotide variant	not specified [RCV004306365]	Chr6:33675855 [GRCh38] Chr6:33643632 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.5667+34C>T	single nucleotide variant	not provided [RCV001723172]	Chr6:33685861 [GRCh38] Chr6:33653638 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.7625-216T>C	single nucleotide variant	not provided [RCV001636177]	Chr6:33693329 [GRCh38] Chr6:33661106 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.4477-104G>C	single nucleotide variant	not provided [RCV001677004]	Chr6:33682420 [GRCh38] Chr6:33650197 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.4263C>T (p.Tyr1421=)	single nucleotide variant	ITPR3-related disorder [RCV003980754]\|not provided [RCV001608242]	Chr6:33680367 [GRCh38] Chr6:33648144 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.5308-25T>C	single nucleotide variant	not provided [RCV001639109]	Chr6:33685334 [GRCh38] Chr6:33653111 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.7948-38C>T	single nucleotide variant	not provided [RCV001717378]	Chr6:33695674 [GRCh38] Chr6:33663451 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.5979+82A>G	single nucleotide variant	not provided [RCV001654385]	Chr6:33686601 [GRCh38] Chr6:33654378 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.6075+16T>C	single nucleotide variant	not provided [RCV001536238]	Chr6:33687120 [GRCh38] Chr6:33654897 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.1131C>T (p.Thr377=)	single nucleotide variant	ITPR3-related disorder [RCV003984044]\|not provided [RCV001659306]	Chr6:33663863 [GRCh38] Chr6:33631640 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.1248+4C>T	single nucleotide variant	ITPR3-related disorder [RCV003976079]\|not provided [RCV001717693]	Chr6:33664973 [GRCh38] Chr6:33632750 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.4598-172G>A	single nucleotide variant	not provided [RCV001717707]	Chr6:33683035 [GRCh38] Chr6:33650812 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.5307+160G>A	single nucleotide variant	not provided [RCV001717712]	Chr6:33685103 [GRCh38] Chr6:33652880 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.4788+103C>T	single nucleotide variant	not provided [RCV001717715]	Chr6:33683500 [GRCh38] Chr6:33651277 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.7226-216G>A	single nucleotide variant	not provided [RCV001717719]	Chr6:33691399 [GRCh38] Chr6:33659176 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.5308-29G>A	single nucleotide variant	not provided [RCV001597609]	Chr6:33685330 [GRCh38] Chr6:33653107 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.7032+134A>T	single nucleotide variant	not provided [RCV001639074]	Chr6:33690332 [GRCh38] Chr6:33658109 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.4789-67G>A	single nucleotide variant	not provided [RCV001656060]	Chr6:33683953 [GRCh38] Chr6:33651730 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.7459-94T>C	single nucleotide variant	not provided [RCV001674767]	Chr6:33692634 [GRCh38] Chr6:33660411 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.3973-65C>A	single nucleotide variant	not provided [RCV001608454]	Chr6:33679817 [GRCh38] Chr6:33647594 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.-48C>T	single nucleotide variant	not provided [RCV001656169]	Chr6:33621555 [GRCh38] Chr6:33589332 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.90-45G>T	single nucleotide variant	not provided [RCV001717684]	Chr6:33640439 [GRCh38] Chr6:33608216 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.1886+113T>C	single nucleotide variant	not provided [RCV001717689]	Chr6:33668077 [GRCh38] Chr6:33635854 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.4225-9A>G	single nucleotide variant	ITPR3-related disorder [RCV003976080]\|not provided [RCV001717706]	Chr6:33680320 [GRCh38] Chr6:33648097 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.529-81T>C	single nucleotide variant	not provided [RCV001655363]	Chr6:33658940 [GRCh38] Chr6:33626717 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.1887-60T>C	single nucleotide variant	not provided [RCV001635813]	Chr6:33668455 [GRCh38] Chr6:33636232 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.1713+50del	deletion	not provided [RCV001719260]	Chr6:33667340 [GRCh38] Chr6:33635117 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.4597+200G>A	single nucleotide variant	not provided [RCV001619743]	Chr6:33682844 [GRCh38] Chr6:33682844..33682845 [GRCh38] Chr6:33650621 [GRCh37] Chr6:33650621..33650622 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.5549G>A (p.Arg1850Gln)	single nucleotide variant	ITPR3-related disorder [RCV003913334]\|not provided [RCV001717711]	Chr6:33685709 [GRCh38] Chr6:33653486 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.4743C>T (p.Pro1581=)	single nucleotide variant	ITPR3-related disorder [RCV003976082]\|not provided [RCV001717714]	Chr6:33683352 [GRCh38] Chr6:33651129 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.858+21G>A	single nucleotide variant	not provided [RCV001635622]	Chr6:33662695 [GRCh38] Chr6:33630472 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.4937+30C>G	single nucleotide variant	not provided [RCV001637712]	Chr6:33684198 [GRCh38] Chr6:33651975 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.4597+9G>C	single nucleotide variant	ITPR3-related disorder [RCV003976081]\|not provided [RCV001718347]	Chr6:33682653 [GRCh38] Chr6:33650430 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.6177+69T>C	single nucleotide variant	not provided [RCV001718351]	Chr6:33687396 [GRCh38] Chr6:33655173 [GRCh37] Chr6:6p21.31	benign
GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	copy number gain	not provided [RCV001005791]	Chr6:31036397..34088832 [GRCh37] Chr6:6p21.33-21.31	likely pathogenic
NM_002224.4(ITPR3):c.2388G>A (p.Pro796=)	single nucleotide variant	ITPR3-related disorder [RCV003941052]\|not provided [RCV001618168]	Chr6:33670523 [GRCh38] Chr6:33638300 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.7032+91G>C	single nucleotide variant	not provided [RCV001617418]	Chr6:33690289 [GRCh38] Chr6:33658066 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.954+63A>G	single nucleotide variant	not provided [RCV001621105]	Chr6:33663069 [GRCh38] Chr6:33630846 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.7458+88G>A	single nucleotide variant	not provided [RCV001635878]	Chr6:33692016 [GRCh38] Chr6:33659793 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.7306C>G (p.Leu2436Val)	single nucleotide variant	ITPR3-related disorder [RCV003975818]\|not provided [RCV001657338]	Chr6:33691695 [GRCh38] Chr6:33659472 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.160+48T>C	single nucleotide variant	not provided [RCV001595297]	Chr6:33640602 [GRCh38] Chr6:33608379 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.7947+193G>A	single nucleotide variant	not provided [RCV001638549]	Chr6:33695278 [GRCh38] Chr6:33663055 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.7119C>T (p.Ala2373=)	single nucleotide variant	ITPR3-related disorder [RCV003913344]\|not provided [RCV001723122]	Chr6:33691003 [GRCh38] Chr6:33658780 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.5979+90G>A	single nucleotide variant	not provided [RCV001614227]	Chr6:33686609 [GRCh38] Chr6:33654386 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.3523-166G>T	single nucleotide variant	not provided [RCV001541179]	Chr6:33677338 [GRCh38] Chr6:33677338..33677339 [GRCh38] Chr6:33645115 [GRCh37] Chr6:33645115..33645116 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.3059-88G>A	single nucleotide variant	not provided [RCV001671324]	Chr6:33674120 [GRCh38] Chr6:33641897 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.3448-19T>A	single nucleotide variant	not provided [RCV001667028]	Chr6:33676996 [GRCh38] Chr6:33644773 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.6569-17G>A	single nucleotide variant	not provided [RCV001668095]	Chr6:33688639 [GRCh38] Chr6:33656416 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.3058+224C>T	single nucleotide variant	not provided [RCV001614400]	Chr6:33673944 [GRCh38] Chr6:33641721 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.2586+65G>A	single nucleotide variant	not provided [RCV001533966]	Chr6:33670880 [GRCh38] Chr6:33638657 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.1714-162T>A	single nucleotide variant	not provided [RCV001670065]	Chr6:33667630 [GRCh38] Chr6:33635407 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.627+16G>A	single nucleotide variant	not provided [RCV001662857]	Chr6:33659135 [GRCh38] Chr6:33626912 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.4224+26C>T	single nucleotide variant	not provided [RCV001616347]	Chr6:33680159 [GRCh38] Chr6:33647936 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.6695-165C>T	single nucleotide variant	not provided [RCV001670542]	Chr6:33689073 [GRCh38] Chr6:33656850 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.712-176G>A	single nucleotide variant	not provided [RCV001610182]	Chr6:33662352 [GRCh38] Chr6:33630129 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.7624+109A>G	single nucleotide variant	not provided [RCV001645176]	Chr6:33693002 [GRCh38] Chr6:33660779 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.955-120_955-115del	deletion	not provided [RCV001690313]	Chr6:33663379..33663384 [GRCh38] Chr6:33631156..33631161 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.4598-126del	deletion	not provided [RCV001694846]	Chr6:33683074 [GRCh38] Chr6:33650851 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.628-166G>A	single nucleotide variant	not provided [RCV001667752]	Chr6:33659300 [GRCh38] Chr6:33659300..33659301 [GRCh38] Chr6:33627077 [GRCh37] Chr6:33627077..33627078 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.2929-175dup	duplication	not provided [RCV001709221]	Chr6:33673412..33673413 [GRCh38] Chr6:33641189..33641190 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.955-114T>C	single nucleotide variant	not provided [RCV001538547]	Chr6:33663386 [GRCh38] Chr6:33631163 [GRCh37] Chr6:6p21.31	benign
NC_000006.11:g.(?_33388042)_(33756893_?)dup	duplication	Intellectual disability, autosomal dominant 5 [RCV001300699]	Chr6:33388042..33756893 [GRCh37] Chr6:6p21.32-21.31	uncertain significance
NM_002224.4(ITPR3):c.6867+59C>T	single nucleotide variant	not provided [RCV001673831]	Chr6:33689469 [GRCh38] Chr6:33657246 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.4476+158del	deletion	not provided [RCV001717419]	Chr6:33680821 [GRCh38] Chr6:33648598 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.283-13T>C	single nucleotide variant	not provided [RCV001655456]	Chr6:33657919 [GRCh38] Chr6:33625696 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.1551+187G>A	single nucleotide variant	not provided [RCV001671406]	Chr6:33666163 [GRCh38] Chr6:33633940 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.1149-29C>T	single nucleotide variant	not provided [RCV001671667]	Chr6:33664841 [GRCh38] Chr6:33632618 [GRCh37] Chr6:6p21.31	benign
NC_000006.12:g.33621255G>C	single nucleotide variant	not provided [RCV001687562]	Chr6:33621255 [GRCh38] Chr6:33589032 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.6265-106G>C	single nucleotide variant	not provided [RCV001655100]	Chr6:33687951 [GRCh38] Chr6:33655728 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.7331-21C>T	single nucleotide variant	not provided [RCV001530616]	Chr6:33691780 [GRCh38] Chr6:33659557 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.282+4TG[7]	microsatellite	not provided [RCV001523518]	Chr6:33655890..33655891 [GRCh38] Chr6:33623667..33623668 [GRCh37] Chr6:6p21.31	benign\|likely benign
NM_002224.4(ITPR3):c.1027C>T (p.Arg343Cys)	single nucleotide variant	not specified [RCV004295337]	Chr6:33663759 [GRCh38] Chr6:33631536 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.1714-3C>A	single nucleotide variant	not provided [RCV001795797]	Chr6:33667789 [GRCh38] Chr6:33635566 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.5384G>A (p.Arg1795Gln)	single nucleotide variant	not provided [RCV001870651]	Chr6:33685435 [GRCh38] Chr6:33653212 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.5688C>A (p.Asn1896Lys)	single nucleotide variant	not provided [RCV001757805]	Chr6:33686073 [GRCh38] Chr6:33653850 [GRCh37] Chr6:6p21.31	uncertain significance
GRCh37/hg19 6p21.32-21.31(chr6:33069892-33751391)	copy number gain	not specified [RCV002053566]	Chr6:33069892..33751391 [GRCh37] Chr6:6p21.32-21.31	uncertain significance
NC_000006.11:g.(?_30695893)_(36953949_?)dup	duplication	Proteasome-associated autoinflammatory syndrome 1 [RCV003113679]	Chr6:30695893..36953949 [GRCh37] Chr6:6p21.33-21.2	uncertain significance
NM_002224.4(ITPR3):c.847T>C (p.Trp283Arg)	single nucleotide variant	not provided [RCV004784746]	Chr6:33662663 [GRCh38] Chr6:33630440 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.1381_1382insT (p.Glu461fs)	insertion	not provided [RCV003129076]	Chr6:33665185..33665186 [GRCh38] Chr6:33632962..33632963 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.1134C>G (p.Asp378Glu)	single nucleotide variant	not provided [RCV002283161]	Chr6:33663866 [GRCh38] Chr6:33631643 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.4193C>T (p.Ser1398Phe)	single nucleotide variant	not provided [RCV002288042]	Chr6:33680102 [GRCh38] Chr6:33647879 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.5617A>G (p.Ile1873Val)	single nucleotide variant	not provided [RCV003129038]	Chr6:33685777 [GRCh38] Chr6:33653554 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.4271C>T (p.Thr1424Met)	single nucleotide variant	Charcot-Marie-Tooth disease, demyelinating, type 1J [RCV002305679]\|not provided [RCV004719253]	Chr6:33680375 [GRCh38] Chr6:33648152 [GRCh37] Chr6:6p21.31	pathogenic\|likely pathogenic
NM_002224.4(ITPR3):c.1843G>A (p.Val615Met)	single nucleotide variant	Charcot-Marie-Tooth disease, demyelinating, type 1J [RCV002305677]	Chr6:33667921 [GRCh38] Chr6:33635698 [GRCh37] Chr6:6p21.31	pathogenic
NM_002224.4(ITPR3):c.7570C>T (p.Arg2524Cys)	single nucleotide variant	Charcot-Marie-Tooth disease, demyelinating, type 1J [RCV002305678]\|ITPR3-related disorder [RCV003408224]\|not provided [RCV003330107]	Chr6:33692839 [GRCh38] Chr6:33660616 [GRCh37] Chr6:6p21.31	pathogenic\|likely pathogenic\|uncertain significance
NM_002224.4(ITPR3):c.2767A>G (p.Met923Val)	single nucleotide variant	not specified [RCV004088020]	Chr6:33672067 [GRCh38] Chr6:33639844 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.434A>G (p.Lys145Arg)	single nucleotide variant	not specified [RCV004138776]	Chr6:33658734 [GRCh38] Chr6:33626511 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.2384C>T (p.Thr795Met)	single nucleotide variant	not specified [RCV004143281]	Chr6:33670519 [GRCh38] Chr6:33638296 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.3656C>G (p.Ala1219Gly)	single nucleotide variant	not specified [RCV004141465]	Chr6:33678428 [GRCh38] Chr6:33646205 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.6328G>A (p.Glu2110Lys)	single nucleotide variant	not specified [RCV004195103]	Chr6:33688120 [GRCh38] Chr6:33655897 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.6911G>A (p.Arg2304His)	single nucleotide variant	not specified [RCV004131022]	Chr6:33690077 [GRCh38] Chr6:33657854 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.2144C>T (p.Ala715Val)	single nucleotide variant	not specified [RCV004228992]	Chr6:33669111 [GRCh38] Chr6:33636888 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.839A>G (p.Asn280Ser)	single nucleotide variant	not specified [RCV004127787]	Chr6:33662655 [GRCh38] Chr6:33630432 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.202C>A (p.Gln68Lys)	single nucleotide variant	not specified [RCV004118442]	Chr6:33655807 [GRCh38] Chr6:33623584 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.6424G>A (p.Gly2142Ser)	single nucleotide variant	not specified [RCV004112667]	Chr6:33688287 [GRCh38] Chr6:33656064 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.2473G>C (p.Asp825His)	single nucleotide variant	not specified [RCV004220510]	Chr6:33670702 [GRCh38] Chr6:33638479 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.2368C>T (p.Pro790Ser)	single nucleotide variant	not specified [RCV004083271]	Chr6:33670503 [GRCh38] Chr6:33638280 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.6334G>A (p.Asp2112Asn)	single nucleotide variant	not specified [RCV004104884]	Chr6:33688126 [GRCh38] Chr6:33655903 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.7303G>C (p.Gly2435Arg)	single nucleotide variant	not specified [RCV004192775]	Chr6:33691692 [GRCh38] Chr6:33659469 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.5128A>C (p.Ile1710Leu)	single nucleotide variant	not specified [RCV004216592]	Chr6:33684679 [GRCh38] Chr6:33652456 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.3211G>T (p.Val1071Phe)	single nucleotide variant	not specified [RCV004129033]	Chr6:33675785 [GRCh38] Chr6:33643562 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.2752C>G (p.Gln918Glu)	single nucleotide variant	not specified [RCV004115518]	Chr6:33672052 [GRCh38] Chr6:33639829 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.5452G>A (p.Asp1818Asn)	single nucleotide variant	not specified [RCV004157194]	Chr6:33685503 [GRCh38] Chr6:33653280 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.7160G>C (p.Gly2387Ala)	single nucleotide variant	not specified [RCV004100213]	Chr6:33691044 [GRCh38] Chr6:33658821 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.130G>C (p.Asp44His)	single nucleotide variant	not specified [RCV004233531]	Chr6:33640524 [GRCh38] Chr6:33608301 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.5593A>C (p.Thr1865Pro)	single nucleotide variant	not specified [RCV004142263]	Chr6:33685753 [GRCh38] Chr6:33653530 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.5953C>T (p.Arg1985Cys)	single nucleotide variant	not specified [RCV004198906]	Chr6:33686493 [GRCh38] Chr6:33654270 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.767A>G (p.Glu256Gly)	single nucleotide variant	not specified [RCV004204252]	Chr6:33662583 [GRCh38] Chr6:33630360 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.2007G>C (p.Glu669Asp)	single nucleotide variant	not specified [RCV004220691]	Chr6:33668974 [GRCh38] Chr6:33636751 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.5834C>T (p.Thr1945Ile)	single nucleotide variant	not specified [RCV004105842]	Chr6:33686219 [GRCh38] Chr6:33653996 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.6821A>G (p.Tyr2274Cys)	single nucleotide variant	not specified [RCV004098853]	Chr6:33689364 [GRCh38] Chr6:33657141 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.2692C>A (p.Pro898Thr)	single nucleotide variant	not specified [RCV004236844]	Chr6:33671270 [GRCh38] Chr6:33639047 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.613G>A (p.Ala205Thr)	single nucleotide variant	not specified [RCV004211407]	Chr6:33659105 [GRCh38] Chr6:33626882 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.7246C>G (p.His2416Asp)	single nucleotide variant	not specified [RCV004234026]	Chr6:33691635 [GRCh38] Chr6:33659412 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.4802C>T (p.Ala1601Val)	single nucleotide variant	not specified [RCV004134392]	Chr6:33684033 [GRCh38] Chr6:33651810 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.4652T>C (p.Met1551Thr)	single nucleotide variant	not specified [RCV004132337]	Chr6:33683261 [GRCh38] Chr6:33651038 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.4363C>T (p.Arg1455Cys)	single nucleotide variant	not specified [RCV004093462]	Chr6:33680567 [GRCh38] Chr6:33648344 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.2722C>A (p.Pro908Thr)	single nucleotide variant	not specified [RCV004228352]	Chr6:33671300 [GRCh38] Chr6:33639077 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.2299G>A (p.Glu767Lys)	single nucleotide variant	not specified [RCV004172985]	Chr6:33670434 [GRCh38] Chr6:33638211 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.4058G>A (p.Arg1353His)	single nucleotide variant	not specified [RCV004196505]	Chr6:33679967 [GRCh38] Chr6:33647744 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.1609C>T (p.Arg537Trp)	single nucleotide variant	not specified [RCV004229493]	Chr6:33667186 [GRCh38] Chr6:33634963 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.3792G>A (p.Met1264Ile)	single nucleotide variant	not specified [RCV004178799]	Chr6:33678659 [GRCh38] Chr6:33646436 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.6025G>A (p.Asp2009Asn)	single nucleotide variant	not specified [RCV004172846]	Chr6:33687054 [GRCh38] Chr6:33654831 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.5876T>C (p.Ile1959Thr)	single nucleotide variant	not specified [RCV004221869]	Chr6:33686416 [GRCh38] Chr6:33654193 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.5455C>T (p.Arg1819Cys)	single nucleotide variant	not provided [RCV002928808]	Chr6:33685506 [GRCh38] Chr6:33653283 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.7220C>T (p.Ser2407Phe)	single nucleotide variant	not specified [RCV004111229]	Chr6:33691104 [GRCh38] Chr6:33658881 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.1136C>T (p.Ser379Phe)	single nucleotide variant	not specified [RCV004106943]	Chr6:33663868 [GRCh38] Chr6:33631645 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.2138A>T (p.Gln713Leu)	single nucleotide variant	not specified [RCV004209826]	Chr6:33669105 [GRCh38] Chr6:33636882 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.6170C>T (p.Ala2057Val)	single nucleotide variant	not specified [RCV004173457]	Chr6:33687320 [GRCh38] Chr6:33655097 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.6281A>C (p.Lys2094Thr)	single nucleotide variant	not provided [RCV002508414]	Chr6:33688073 [GRCh38] Chr6:33655850 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.3545T>A (p.Met1182Lys)	single nucleotide variant	not specified [RCV004150854]	Chr6:33677526 [GRCh38] Chr6:33645303 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.3359T>C (p.Met1120Thr)	single nucleotide variant	not specified [RCV004174324]	Chr6:33676844 [GRCh38] Chr6:33644621 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.4519C>T (p.Arg1507Cys)	single nucleotide variant	not specified [RCV004195289]	Chr6:33682566 [GRCh38] Chr6:33650343 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.2653A>G (p.Thr885Ala)	single nucleotide variant	not specified [RCV004096018]	Chr6:33671231 [GRCh38] Chr6:33639008 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.6425G>A (p.Gly2142Asp)	single nucleotide variant	not specified [RCV004150015]	Chr6:33688288 [GRCh38] Chr6:33656065 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.6279C>G (p.Asn2093Lys)	single nucleotide variant	not specified [RCV004105497]	Chr6:33688071 [GRCh38] Chr6:33655848 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.6161A>G (p.Tyr2054Cys)	single nucleotide variant	not specified [RCV004213466]	Chr6:33687311 [GRCh38] Chr6:33655088 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.25C>T (p.His9Tyr)	single nucleotide variant	not specified [RCV004226999]	Chr6:33621627 [GRCh38] Chr6:33589404 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.5108G>A (p.Arg1703Gln)	single nucleotide variant	not specified [RCV004080802]	Chr6:33684659 [GRCh38] Chr6:33652436 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.6082G>A (p.Val2028Ile)	single nucleotide variant	not specified [RCV004178409]	Chr6:33687232 [GRCh38] Chr6:33655009 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.5716G>C (p.Glu1906Gln)	single nucleotide variant	not specified [RCV004095549]	Chr6:33686101 [GRCh38] Chr6:33653878 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.4218C>G (p.Ile1406Met)	single nucleotide variant	Charcot-Marie-Tooth disease, demyelinating, type 1J [RCV003336814]\|not provided [RCV003427634]\|not specified [RCV004188760]	Chr6:33680127 [GRCh38] Chr6:33647904 [GRCh37] Chr6:6p21.31	benign\|uncertain significance
NM_002224.4(ITPR3):c.4934C>T (p.Ser1645Phe)	single nucleotide variant	not specified [RCV004095434]	Chr6:33684165 [GRCh38] Chr6:33651942 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.682C>G (p.Arg228Gly)	single nucleotide variant	not specified [RCV004179584]	Chr6:33659520 [GRCh38] Chr6:33627297 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.2444A>G (p.Tyr815Cys)	single nucleotide variant	not specified [RCV004172475]	Chr6:33670673 [GRCh38] Chr6:33638450 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.5569C>T (p.Arg1857Cys)	single nucleotide variant	not specified [RCV004140961]	Chr6:33685729 [GRCh38] Chr6:33653506 [GRCh37] Chr6:6p21.31	uncertain significance
NC_000006.11:g.(?_32148920)_(36953949_?)dup	duplication	not provided [RCV003154914]	Chr6:32148920..36953949 [GRCh37] Chr6:6p21.32-21.2	uncertain significance
NM_002224.4(ITPR3):c.3104T>C (p.Met1035Thr)	single nucleotide variant	not specified [RCV004297135]	Chr6:33674253 [GRCh38] Chr6:33642030 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.7310C>T (p.Ser2437Leu)	single nucleotide variant	not specified [RCV004251870]	Chr6:33691699 [GRCh38] Chr6:33659476 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.3551G>A (p.Gly1184Glu)	single nucleotide variant	not specified [RCV004285410]	Chr6:33677532 [GRCh38] Chr6:33645309 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.1591G>T (p.Gly531Cys)	single nucleotide variant	not specified [RCV004265866]	Chr6:33667168 [GRCh38] Chr6:33634945 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.2147G>A (p.Arg716Gln)	single nucleotide variant	not specified [RCV004268363]	Chr6:33669114 [GRCh38] Chr6:33636891 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.5159C>T (p.Ala1720Val)	single nucleotide variant	not specified [RCV004277153]	Chr6:33684795 [GRCh38] Chr6:33652572 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.166C>G (p.Leu56Val)	single nucleotide variant	not specified [RCV004256065]	Chr6:33655771 [GRCh38] Chr6:33623548 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.7337G>A (p.Arg2446Lys)	single nucleotide variant	not specified [RCV004252913]	Chr6:33691807 [GRCh38] Chr6:33659584 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.322A>G (p.Asn108Asp)	single nucleotide variant	not specified [RCV004268989]	Chr6:33657971 [GRCh38] Chr6:33625748 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.5393A>G (p.Gln1798Arg)	single nucleotide variant	not specified [RCV004250719]	Chr6:33685444 [GRCh38] Chr6:33653221 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.4730C>T (p.Pro1577Leu)	single nucleotide variant	not specified [RCV004265749]	Chr6:33683339 [GRCh38] Chr6:33651116 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.6068A>G (p.Gln2023Arg)	single nucleotide variant	not specified [RCV004283204]	Chr6:33687097 [GRCh38] Chr6:33654874 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.7727G>A (p.Arg2576His)	single nucleotide variant	not specified [RCV004254929]	Chr6:33693647 [GRCh38] Chr6:33661424 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.1129A>C (p.Thr377Pro)	single nucleotide variant	not specified [RCV004269424]	Chr6:33663861 [GRCh38] Chr6:33631638 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.3764C>T (p.Thr1255Met)	single nucleotide variant	not specified [RCV004250776]	Chr6:33678536 [GRCh38] Chr6:33646313 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.3683C>T (p.Thr1228Met)	single nucleotide variant	not specified [RCV004262915]	Chr6:33678455 [GRCh38] Chr6:33646232 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.6265C>T (p.Leu2089Phe)	single nucleotide variant	not specified [RCV004324931]	Chr6:33688057 [GRCh38] Chr6:33655834 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.1229A>G (p.Glu410Gly)	single nucleotide variant	not specified [RCV004323375]	Chr6:33664950 [GRCh38] Chr6:33632727 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.175G>A (p.Val59Met)	single nucleotide variant	not provided [RCV003327917]	Chr6:33655780 [GRCh38] Chr6:33623557 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.8012G>A (p.Arg2671His)	single nucleotide variant	not specified [RCV004323894]	Chr6:33695776 [GRCh38] Chr6:33663553 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.5132G>A (p.Gly1711Asp)	single nucleotide variant	not specified [RCV004296797]	Chr6:33684683 [GRCh38] Chr6:33652460 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.5624G>A (p.Arg1875His)	single nucleotide variant	not specified [RCV004333369]	Chr6:33685784 [GRCh38] Chr6:33653561 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.3674T>G (p.Leu1225Arg)	single nucleotide variant	not provided [RCV003321346]	Chr6:33678446 [GRCh38] Chr6:33646223 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.445C>T (p.Arg149Trp)	single nucleotide variant	Charcot-Marie-Tooth disease, demyelinating, type 1J [RCV004813227]\|not provided [RCV003325845]	Chr6:33658745 [GRCh38] Chr6:33626522 [GRCh37] Chr6:6p21.31	likely pathogenic\|uncertain significance
NM_002224.4(ITPR3):c.7802G>A (p.Trp2601Ter)	single nucleotide variant	not provided [RCV003327168]	Chr6:33694940 [GRCh38] Chr6:33662717 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.2749A>C (p.Ile917Leu)	single nucleotide variant	not provided [RCV003330133]	Chr6:33672049 [GRCh38] Chr6:33639826 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.7147T>C (p.Phe2383Leu)	single nucleotide variant	not provided [RCV003325922]	Chr6:33691031 [GRCh38] Chr6:33658808 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.3427G>A (p.Ala1143Thr)	single nucleotide variant	not specified [RCV004335237]	Chr6:33676912 [GRCh38] Chr6:33644689 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.4625T>C (p.Met1542Thr)	single nucleotide variant	not specified [RCV004345575]	Chr6:33683234 [GRCh38] Chr6:33651011 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.8011C>T (p.Arg2671Cys)	single nucleotide variant	not specified [RCV004352639]	Chr6:33695775 [GRCh38] Chr6:33663552 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.4432G>T (p.Ala1478Ser)	single nucleotide variant	not specified [RCV004365634]	Chr6:33680636 [GRCh38] Chr6:33648413 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.2612T>C (p.Ile871Thr)	single nucleotide variant	not specified [RCV004355846]	Chr6:33671190 [GRCh38] Chr6:33638967 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.1883C>T (p.Pro628Leu)	single nucleotide variant	not specified [RCV004347374]	Chr6:33667961 [GRCh38] Chr6:33635738 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.7201C>T (p.Arg2401Trp)	single nucleotide variant	not specified [RCV004337212]	Chr6:33691085 [GRCh38] Chr6:33658862 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.4204C>T (p.His1402Tyr)	single nucleotide variant	not specified [RCV004343097]	Chr6:33680113 [GRCh38] Chr6:33647890 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.7387G>A (p.Val2463Ile)	single nucleotide variant	not specified [RCV004341345]	Chr6:33691857 [GRCh38] Chr6:33659634 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.5411T>C (p.Val1804Ala)	single nucleotide variant	not provided [RCV003569075]	Chr6:33685462 [GRCh38] Chr6:33653239 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.3987T>C (p.Gly1329=)	single nucleotide variant	ITPR3-related disorder [RCV003919205]\|not provided [RCV003431814]	Chr6:33679896 [GRCh38] Chr6:33647673 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.6576G>A (p.Pro2192=)	single nucleotide variant	not provided [RCV003431817]	Chr6:33688663 [GRCh38] Chr6:33656440 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.563T>G (p.Val188Gly)	single nucleotide variant	not provided [RCV003441540]	Chr6:33659055 [GRCh38] Chr6:33626832 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.5382G>A (p.Lys1794=)	single nucleotide variant	ITPR3-related disorder [RCV003929158]\|not provided [RCV003428836]	Chr6:33685433 [GRCh38] Chr6:33653210 [GRCh37] Chr6:6p21.31	benign\|likely benign
NM_002224.4(ITPR3):c.1551+4C>T	single nucleotide variant	ITPR3-related disorder [RCV003929156]\|not provided [RCV003428834]	Chr6:33665980 [GRCh38] Chr6:33633757 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.534C>T (p.Val178=)	single nucleotide variant	not provided [RCV003431812]	Chr6:33659026 [GRCh38] Chr6:33626803 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.3391A>C (p.Lys1131Gln)	single nucleotide variant	not provided [RCV003431813]	Chr6:33676876 [GRCh38] Chr6:33644653 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.5213G>A (p.Cys1738Tyr)	single nucleotide variant	ITPR3-related disorder [RCV003929157]\|not provided [RCV003431815]	Chr6:33684849 [GRCh38] Chr6:33652626 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.6126G>A (p.Ser2042=)	single nucleotide variant	not provided [RCV003431816]	Chr6:33687276 [GRCh38] Chr6:33655053 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.309A>G (p.Gln103=)	single nucleotide variant	ITPR3-related disorder [RCV003929154]\|not provided [RCV003428832]	Chr6:33657958 [GRCh38] Chr6:33625735 [GRCh37] Chr6:6p21.31	benign\|likely benign
NM_002224.4(ITPR3):c.1409+8_1409+23del	deletion	ITPR3-related disorder [RCV003929155]\|not provided [RCV003428833]	Chr6:33665220..33665235 [GRCh38] Chr6:33632997..33633012 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.1886+8C>T	single nucleotide variant	not provided [RCV003428835]	Chr6:33667972 [GRCh38] Chr6:33635749 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.5138-8G>A	single nucleotide variant	Charcot-Marie-Tooth disease, demyelinating, type 1J [RCV003493040]	Chr6:33684766 [GRCh38] Chr6:33652543 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.6603G>A (p.Met2201Ile)	single nucleotide variant	not provided [RCV004812065]	Chr6:33688690 [GRCh38] Chr6:33656467 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.2291T>C (p.Met764Thr)	single nucleotide variant	not provided [RCV003551052]	Chr6:33670426 [GRCh38] Chr6:33638203 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.5434G>A (p.Gly1812Ser)	single nucleotide variant	ITPR3-related disorder [RCV003969694]	Chr6:33685485 [GRCh38] Chr6:33653262 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.7071C>T (p.Asn2357=)	single nucleotide variant	ITPR3-related disorder [RCV003911907]	Chr6:33690955 [GRCh38] Chr6:33658732 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.3771+8T>C	single nucleotide variant	ITPR3-related disorder [RCV003977264]	Chr6:33678551 [GRCh38] Chr6:33646328 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.5560G>A (p.Val1854Met)	single nucleotide variant	not provided [RCV003884286]	Chr6:33685720 [GRCh38] Chr6:33653497 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.5668-4G>A	single nucleotide variant	ITPR3-related disorder [RCV003911803]	Chr6:33686049 [GRCh38] Chr6:33653826 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.4789-9C>T	single nucleotide variant	ITPR3-related disorder [RCV003919763]	Chr6:33684011 [GRCh38] Chr6:33651788 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.7311G>A (p.Ser2437=)	single nucleotide variant	ITPR3-related disorder [RCV003947411]	Chr6:33691700 [GRCh38] Chr6:33659477 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.2226C>T (p.Asp742=)	single nucleotide variant	ITPR3-related disorder [RCV003971399]	Chr6:33670361 [GRCh38] Chr6:33638138 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.5913C>T (p.Thr1971=)	single nucleotide variant	ITPR3-related disorder [RCV003971693]	Chr6:33686453 [GRCh38] Chr6:33654230 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.730T>C (p.Phe244Leu)	single nucleotide variant	Charcot-Marie-Tooth disease, demyelinating, type 1J [RCV003991901]	Chr6:33662546 [GRCh38] Chr6:33630323 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.627+9G>T	single nucleotide variant	ITPR3-related disorder [RCV003979318]	Chr6:33659128 [GRCh38] Chr6:33626905 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.6837G>A (p.Gly2279=)	single nucleotide variant	ITPR3-related disorder [RCV003959046]	Chr6:33689380 [GRCh38] Chr6:33657157 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.5799C>T (p.Asn1933=)	single nucleotide variant	ITPR3-related disorder [RCV003964570]\|not provided [RCV004810662]	Chr6:33686184 [GRCh38] Chr6:33653961 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.5307+3G>A	single nucleotide variant	ITPR3-related disorder [RCV003934677]	Chr6:33684946 [GRCh38] Chr6:33652723 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.7975C>T (p.Arg2659Cys)	single nucleotide variant	not provided [RCV003885192]	Chr6:33695739 [GRCh38] Chr6:33663516 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.3597C>T (p.Asn1199=)	single nucleotide variant	ITPR3-related disorder [RCV003942177]	Chr6:33677578 [GRCh38] Chr6:33645355 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.438C>T (p.Asn146=)	single nucleotide variant	ITPR3-related disorder [RCV003929556]	Chr6:33658738 [GRCh38] Chr6:33626515 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.5421C>T (p.Asn1807=)	single nucleotide variant	ITPR3-related disorder [RCV003947127]	Chr6:33685472 [GRCh38] Chr6:33653249 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.5511C>T (p.Gly1837=)	single nucleotide variant	ITPR3-related disorder [RCV003984531]	Chr6:33685671 [GRCh38] Chr6:33653448 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.1254C>T (p.Gly418=)	single nucleotide variant	ITPR3-related disorder [RCV003964216]	Chr6:33665058 [GRCh38] Chr6:33632835 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.5937C>T (p.Ser1979=)	single nucleotide variant	ITPR3-related disorder [RCV003919395]	Chr6:33686477 [GRCh38] Chr6:33654254 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.1714-4C>A	single nucleotide variant	ITPR3-related disorder [RCV003917117]\|not provided [RCV004721771]	Chr6:33667788 [GRCh38] Chr6:33635565 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.6375+9G>A	single nucleotide variant	ITPR3-related disorder [RCV003941853]	Chr6:33688176 [GRCh38] Chr6:33655953 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.198G>A (p.Ser66=)	single nucleotide variant	ITPR3-related disorder [RCV003976413]	Chr6:33655803 [GRCh38] Chr6:33623580 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.1380C>T (p.Asn460=)	single nucleotide variant	ITPR3-related disorder [RCV003954506]	Chr6:33665184 [GRCh38] Chr6:33632961 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.4176G>A (p.Pro1392=)	single nucleotide variant	ITPR3-related disorder [RCV003959622]	Chr6:33680085 [GRCh38] Chr6:33647862 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.1974C>T (p.Asp658=)	single nucleotide variant	ITPR3-related disorder [RCV003944187]	Chr6:33668602 [GRCh38] Chr6:33636379 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.2163C>T (p.His721=)	single nucleotide variant	ITPR3-related disorder [RCV003977347]	Chr6:33669130 [GRCh38] Chr6:33636907 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.7752G>A (p.Thr2584=)	single nucleotide variant	ITPR3-related disorder [RCV003894740]	Chr6:33693672 [GRCh38] Chr6:33661449 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.5556C>T (p.His1852=)	single nucleotide variant	ITPR3-related disorder [RCV003944093]	Chr6:33685716 [GRCh38] Chr6:33653493 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.7551C>T (p.Ile2517=)	single nucleotide variant	ITPR3-related disorder [RCV003972243]	Chr6:33692820 [GRCh38] Chr6:33660597 [GRCh37] Chr6:6p21.31	benign
NM_002224.4(ITPR3):c.4588G>C (p.Ala1530Pro)	single nucleotide variant	ITPR3-related disorder [RCV003901914]	Chr6:33682635 [GRCh38] Chr6:33650412 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.3282+6G>A	single nucleotide variant	ITPR3-related disorder [RCV003944539]	Chr6:33675862 [GRCh38] Chr6:33643639 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.159T>C (p.Arg53=)	single nucleotide variant	ITPR3-related disorder [RCV003914768]	Chr6:33640553 [GRCh38] Chr6:33608330 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.12G>A (p.Met4Ile)	single nucleotide variant	not specified [RCV004398642]	Chr6:33621614 [GRCh38] Chr6:33589391 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.1840G>A (p.Glu614Lys)	single nucleotide variant	not specified [RCV004398645]	Chr6:33667918 [GRCh38] Chr6:33635695 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.2803G>A (p.Val935Ile)	single nucleotide variant	not specified [RCV004398649]	Chr6:33672103 [GRCh38] Chr6:33639880 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.2905C>A (p.Leu969Met)	single nucleotide variant	not specified [RCV004398650]	Chr6:33672205 [GRCh38] Chr6:33639982 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.5180G>A (p.Arg1727Gln)	single nucleotide variant	not specified [RCV004398658]	Chr6:33684816 [GRCh38] Chr6:33652593 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.5494T>G (p.Ser1832Ala)	single nucleotide variant	not specified [RCV004398659]	Chr6:33685654 [GRCh38] Chr6:33653431 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.5828C>G (p.Thr1943Ser)	single nucleotide variant	not specified [RCV004398662]	Chr6:33686213 [GRCh38] Chr6:33653990 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.5900T>C (p.Ile1967Thr)	single nucleotide variant	not specified [RCV004398663]	Chr6:33686440 [GRCh38] Chr6:33654217 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.7283A>T (p.Asp2428Val)	single nucleotide variant	not specified [RCV004398672]	Chr6:33691672 [GRCh38] Chr6:33659449 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.7817G>A (p.Arg2606Gln)	single nucleotide variant	not specified [RCV004398676]	Chr6:33694955 [GRCh38] Chr6:33662732 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.986A>T (p.Asp329Val)	single nucleotide variant	not specified [RCV004398678]	Chr6:33663531 [GRCh38] Chr6:33631308 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.988C>T (p.Pro330Ser)	single nucleotide variant	not specified [RCV004398679]	Chr6:33663533 [GRCh38] Chr6:33631310 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.2714A>G (p.Tyr905Cys)	single nucleotide variant	not specified [RCV004398648]	Chr6:33671292 [GRCh38] Chr6:33639069 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.3172G>A (p.Val1058Met)	single nucleotide variant	not specified [RCV004398654]	Chr6:33675746 [GRCh38] Chr6:33643523 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.6247G>A (p.Glu2083Lys)	single nucleotide variant	not specified [RCV004398667]	Chr6:33687547 [GRCh38] Chr6:33655324 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.7156G>A (p.Val2386Ile)	single nucleotide variant	not specified [RCV004398671]	Chr6:33691040 [GRCh38] Chr6:33658817 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.7961G>A (p.Arg2654Gln)	single nucleotide variant	not specified [RCV004398677]	Chr6:33695725 [GRCh38] Chr6:33663502 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.3076G>C (p.Asp1026His)	single nucleotide variant	not specified [RCV004398653]	Chr6:33674225 [GRCh38] Chr6:33642002 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.5554C>T (p.His1852Tyr)	single nucleotide variant	not specified [RCV004398661]	Chr6:33685714 [GRCh38] Chr6:33653491 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.7816C>G (p.Arg2606Gly)	single nucleotide variant	not specified [RCV004398675]	Chr6:33694954 [GRCh38] Chr6:33662731 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.3022G>T (p.Gly1008Trp)	single nucleotide variant	not specified [RCV004398651]	Chr6:33673684 [GRCh38] Chr6:33641461 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.3206C>T (p.Pro1069Leu)	single nucleotide variant	not specified [RCV004398655]	Chr6:33675780 [GRCh38] Chr6:33643557 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.6910C>T (p.Arg2304Cys)	single nucleotide variant	not specified [RCV004398669]	Chr6:33690076 [GRCh38] Chr6:33657853 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.6926G>C (p.Arg2309Pro)	single nucleotide variant	not specified [RCV004398670]	Chr6:33690092 [GRCh38] Chr6:33657869 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.2931C>A (p.Phe977Leu)	single nucleotide variant	not specified [RCV004633616]	Chr6:33673593 [GRCh38] Chr6:33641370 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.1514G>A (p.Arg505Gln)	single nucleotide variant	not specified [RCV004398643]	Chr6:33665939 [GRCh38] Chr6:33633716 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.1610G>A (p.Arg537Gln)	single nucleotide variant	not specified [RCV004398644]	Chr6:33667187 [GRCh38] Chr6:33634964 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.1876C>T (p.Arg626Trp)	single nucleotide variant	not specified [RCV004398646]	Chr6:33667954 [GRCh38] Chr6:33635731 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.2248G>A (p.Glu750Lys)	single nucleotide variant	not specified [RCV004398647]	Chr6:33670383 [GRCh38] Chr6:33638160 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.3035C>T (p.Thr1012Ile)	single nucleotide variant	not specified [RCV004398652]	Chr6:33673697 [GRCh38] Chr6:33641474 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.3489G>C (p.Glu1163Asp)	single nucleotide variant	not specified [RCV004398656]	Chr6:33677056 [GRCh38] Chr6:33644833 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.5498T>C (p.Phe1833Ser)	single nucleotide variant	not specified [RCV004398660]	Chr6:33685658 [GRCh38] Chr6:33653435 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.6082G>C (p.Val2028Leu)	single nucleotide variant	not specified [RCV004398664]	Chr6:33687232 [GRCh38] Chr6:33655009 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.6242A>C (p.Glu2081Ala)	single nucleotide variant	not specified [RCV004398666]	Chr6:33687542 [GRCh38] Chr6:33655319 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.6773G>A (p.Arg2258His)	single nucleotide variant	not specified [RCV004398668]	Chr6:33689316 [GRCh38] Chr6:33657093 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.7666G>A (p.Glu2556Lys)	single nucleotide variant	not specified [RCV004398673]	Chr6:33693586 [GRCh38] Chr6:33661363 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.6133A>G (p.Ser2045Gly)	single nucleotide variant	not specified [RCV004633615]	Chr6:33687283 [GRCh38] Chr6:33655060 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.3267G>A (p.Met1089Ile)	single nucleotide variant	not specified [RCV004633610]	Chr6:33675841 [GRCh38] Chr6:33643618 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.4466C>A (p.Thr1489Asn)	single nucleotide variant	not specified [RCV004633625]	Chr6:33680670 [GRCh38] Chr6:33648447 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.3040C>A (p.Pro1014Thr)	single nucleotide variant	not specified [RCV004633612]	Chr6:33673702 [GRCh38] Chr6:33641479 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.3440A>G (p.Lys1147Arg)	single nucleotide variant	not specified [RCV004633614]	Chr6:33676925 [GRCh38] Chr6:33644702 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.4066G>A (p.Val1356Met)	single nucleotide variant	not specified [RCV004633621]	Chr6:33679975 [GRCh38] Chr6:33647752 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.1600C>T (p.Pro534Ser)	single nucleotide variant	not specified [RCV004633630]	Chr6:33667177 [GRCh38] Chr6:33634954 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.5551G>C (p.Gly1851Arg)	single nucleotide variant	not specified [RCV004633611]	Chr6:33685711 [GRCh38] Chr6:33653488 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.7658T>C (p.Val2553Ala)	single nucleotide variant	not specified [RCV004633620]	Chr6:33693578 [GRCh38] Chr6:33661355 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.1381G>A (p.Glu461Lys)	single nucleotide variant	not specified [RCV004633626]	Chr6:33665185 [GRCh38] Chr6:33632962 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.6776A>G (p.Tyr2259Cys)	single nucleotide variant	not specified [RCV004633629]	Chr6:33689319 [GRCh38] Chr6:33657096 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.1860C>A (p.Ser620Arg)	single nucleotide variant	not specified [RCV004633617]	Chr6:33667938 [GRCh38] Chr6:33635715 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.5045G>A (p.Arg1682Gln)	single nucleotide variant	not specified [RCV004633628]	Chr6:33684464 [GRCh38] Chr6:33652241 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.6812G>A (p.Arg2271His)	single nucleotide variant	not specified [RCV004633618]	Chr6:33689355 [GRCh38] Chr6:33657132 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.1659C>A (p.Phe553Leu)	single nucleotide variant	not specified [RCV004633627]	Chr6:33667236 [GRCh38] Chr6:33635013 [GRCh37] Chr6:6p21.31	uncertain significance
NC_000006.11:g.(?_33388042)_(33679463_?)del	deletion	Intellectual disability, autosomal dominant 5 [RCV004578659]	Chr6:33388042..33679463 [GRCh37] Chr6:6p21.32-21.31	pathogenic
NM_002224.4(ITPR3):c.7783A>C (p.Lys2595Gln)	single nucleotide variant	not specified [RCV004633619]	Chr6:33693703 [GRCh38] Chr6:33661480 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.2755G>T (p.Gly919Cys)	single nucleotide variant	ITPR3-related disorder [RCV004730715]	Chr6:33672055 [GRCh38] Chr6:33639832 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.6321GGA[3] (p.Glu2111del)	microsatellite	not provided [RCV004810767]	Chr6:33688112..33688114 [GRCh38] Chr6:33655889..33655891 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.4947_4954del (p.His1650fs)	deletion	not provided [RCV004766089]	Chr6:33684363..33684370 [GRCh38] Chr6:33652140..33652147 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.3058+2T>C	single nucleotide variant	Congenital long QT syndrome [RCV004734001]	Chr6:33673722 [GRCh38] Chr6:33641499 [GRCh37] Chr6:6p21.31	likely pathogenic
NM_002224.4(ITPR3):c.699G>A (p.Glu233=)	single nucleotide variant	not provided [RCV004810360]	Chr6:33659537 [GRCh38] Chr6:33627314 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.1740G>A (p.Met580Ile)	single nucleotide variant	not provided [RCV004810873]	Chr6:33667818 [GRCh38] Chr6:33635595 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.5106G>A (p.Ser1702=)	single nucleotide variant	not provided [RCV004810886]	Chr6:33684657 [GRCh38] Chr6:33652434 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.403G>T (p.Val135Leu)	single nucleotide variant	not provided [RCV004811101]	Chr6:33658703 [GRCh38] Chr6:33626480 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.4005C>A (p.Phe1335Leu)	single nucleotide variant	not provided [RCV004722563]	Chr6:33679914 [GRCh38] Chr6:33647691 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.283-9T>A	single nucleotide variant	ITPR3-related disorder [RCV004752382]	Chr6:33657923 [GRCh38] Chr6:33625700 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.7033-7C>T	single nucleotide variant	not provided [RCV004811753]	Chr6:33690910 [GRCh38] Chr6:33658687 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.5907C>G (p.Ile1969Met)	single nucleotide variant	ITPR3-related disorder [RCV004751154]	Chr6:33686447 [GRCh38] Chr6:33654224 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.6664T>C (p.Phe2222Leu)	single nucleotide variant	not provided [RCV004769008]	Chr6:33688751 [GRCh38] Chr6:33656528 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.360T>G (p.Ser120Arg)	single nucleotide variant	ITPR3-related disorder [RCV004752306]	Chr6:33658009 [GRCh38] Chr6:33625786 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.4767G>A (p.Lys1589=)	single nucleotide variant	ITPR3-related disorder [RCV004752313]	Chr6:33683376 [GRCh38] Chr6:33651153 [GRCh37] Chr6:6p21.31	likely benign
NM_002224.4(ITPR3):c.6933_6934insTT (p.Lys2312fs)	insertion	ITPR3-related disorder [RCV004731943]	Chr6:33690098..33690099 [GRCh38] Chr6:33657875..33657876 [GRCh37] Chr6:6p21.31	uncertain significance
NM_002224.4(ITPR3):c.5903A>T (p.Asp1968Val)	single nucleotide variant	not provided [RCV004764111]		uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	751
Count of miRNA genes:	344
Interacting mature miRNAs:	370
Transcripts:	ENST00000374316, ENST00000605930
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
407050609	GWAS699585_H	body height QTL GWAS699585 (human)		3e-08	body height (VT:0001253)	body height (CMO:0000106)	6	33691269	33691270	Human
1358839	MULTSCL5_H	Multiple sclerosis susceptibility QTL 5 (human)			Multiple sclerosis susceptibility		6	19584311	45584311	Human
406957890	GWAS606866_H	venous thromboembolism QTL GWAS606866 (human)		0.0000005	venous thromboembolism		6	33675781	33675782	Human
406943812	GWAS592788_H	hematocrit QTL GWAS592788 (human)		1e-10	hematocrit	hematocrit (CMO:0000037)	6	33638954	33638955	Human
407051658	GWAS700634_H	Graves disease QTL GWAS700634 (human)		4e-12	Graves disease		6	33650385	33650386	Human
406942635	GWAS591611_H	insomnia measurement QTL GWAS591611 (human)		7e-15	insomnia measurement		6	33679281	33679282	Human
407020505	GWAS669481_H	obesity QTL GWAS669481 (human)		0.000001	obesity		6	33656956	33656957	Human
406940762	GWAS589738_H	insomnia measurement QTL GWAS589738 (human)		9e-21	insomnia measurement		6	33679281	33679282	Human
1298431	RA11_H	Rheumatoid arthritis QTL 11 (human)		0.0000024	Joint/bone inflammation	rheumatoid arthritis	6	19911883	40191709	Human
1358857	MULTSCL19_H	Multiple sclerosis susceptibility QTL 19 (human)			Multiple sclerosis susceptibility		6	19584311	45584311	Human
407277737	GWAS926713_H	attention deficit hyperactivity disorder, asthma QTL GWAS926713 (human)		4e-08	attention deficit hyperactivity disorder, asthma		6	33633953	33633954	Human

Markers in Region

STS-U01062

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	33,663,587 - 33,663,825	UniSTS	GRCh37
Build 36	6	33,771,565 - 33,771,803	RGD	NCBI36
Celera	6	35,217,977 - 35,218,215	RGD
Cytogenetic Map	6	p21	UniSTS
Cytogenetic Map	6	p21.31	UniSTS
HuRef	6	33,405,244 - 33,405,482	UniSTS
GeneMap99-GB4 RH Map	6	119.82	UniSTS
NCBI RH Map	6	509.1	UniSTS

RH65340

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	33,622,586 - 33,622,732	UniSTS	GRCh37
Build 36	6	33,730,564 - 33,730,710	RGD	NCBI36
Celera	6	35,176,978 - 35,177,124	RGD
Cytogenetic Map	6	p21	UniSTS
HuRef	6	33,364,248 - 33,364,394	UniSTS
GeneMap99-GB4 RH Map	6	119.49	UniSTS

G43195

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	33,662,122 - 33,662,373	UniSTS	GRCh37
Build 36	6	33,770,100 - 33,770,351	RGD	NCBI36
Celera	6	35,216,512 - 35,216,763	RGD
Cytogenetic Map	6	p21	UniSTS
Cytogenetic Map	6	p21.31	UniSTS
HuRef	6	33,403,779 - 33,404,030	UniSTS

RH119684

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	33,644,699 - 33,645,012	UniSTS	GRCh37
Build 36	6	33,752,677 - 33,752,990	RGD	NCBI36
Celera	6	35,199,090 - 35,199,403	RGD
Cytogenetic Map	6	p21	UniSTS
HuRef	6	33,386,356 - 33,386,669	UniSTS
TNG Radiation Hybrid Map	6	18414.0	UniSTS

SHGC-144717

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	33,624,504 - 33,624,833	UniSTS	GRCh37
Build 36	6	33,732,482 - 33,732,811	RGD	NCBI36
Celera	6	35,178,896 - 35,179,225	RGD
Cytogenetic Map	6	p21	UniSTS
HuRef	6	33,366,166 - 33,366,495	UniSTS
TNG Radiation Hybrid Map	6	18385.0	UniSTS

ITPR3_1317

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	33,663,532 - 33,664,353	UniSTS	GRCh37
Build 36	6	33,771,510 - 33,772,331	RGD	NCBI36
Celera	6	35,217,922 - 35,218,743	RGD
HuRef	6	33,405,189 - 33,406,009	UniSTS

RH46652

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	33,664,138 - 33,664,269	UniSTS	GRCh37
Build 36	6	33,772,116 - 33,772,247	RGD	NCBI36
Celera	6	35,218,528 - 35,218,659	RGD
Cytogenetic Map	6	p21	UniSTS
Cytogenetic Map	6	p21.31	UniSTS
HuRef	6	33,405,794 - 33,405,925	UniSTS
GeneMap99-GB4 RH Map	6	145.45	UniSTS
NCBI RH Map	6	509.1	UniSTS

RH36260

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	33,664,608 - 33,664,724	UniSTS	GRCh37
Build 36	6	33,772,586 - 33,772,702	RGD	NCBI36
Celera	6	35,218,998 - 35,219,114	RGD
Cytogenetic Map	6	p21	UniSTS
Cytogenetic Map	6	p21.31	UniSTS
HuRef	6	33,406,264 - 33,406,380	UniSTS
GeneMap99-GB4 RH Map	6	145.45	UniSTS
NCBI RH Map	6	509.1	UniSTS

RH46603

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	33,662,153 - 33,662,298	UniSTS	GRCh37
Build 36	6	33,770,131 - 33,770,276	RGD	NCBI36
Celera	6	35,216,543 - 35,216,688	RGD
Cytogenetic Map	6	p21	UniSTS
Cytogenetic Map	6	p21.31	UniSTS
HuRef	6	33,403,810 - 33,403,955	UniSTS
GeneMap99-GB4 RH Map	6	120.03	UniSTS
NCBI RH Map	6	509.1	UniSTS

D6S2048

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	33,663,590 - 33,663,699	UniSTS	GRCh37
Build 36	6	33,771,568 - 33,771,677	RGD	NCBI36
Celera	6	35,217,980 - 35,218,089	RGD
Cytogenetic Map	6	p21	UniSTS
Cytogenetic Map	6	p21.31	UniSTS
HuRef	6	33,405,247 - 33,405,356	UniSTS

RH93741

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	6	p21	UniSTS
Cytogenetic Map	6	p21.31	UniSTS
GeneMap99-GB4 RH Map	6	145.45	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
1204	2435	2788	2247	4948	1724	2349	4	622	1945	464	2269	7285	6456	53	3709	850	1738	1615	172

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_027729	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_002224	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011514577	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017010832	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047418731	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047418732	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047418733	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047418734	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054355351	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054355352	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054355353	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054355354	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054355355	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB209739	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK093524	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL139044	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL832807	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC041398	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC146646	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CA430212	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471081	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068272	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	D26351	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HI574292	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U01062	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000374316 ⟹ ENSP00000363435

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	33,620,365 - 33,696,574 (+)	Ensembl

Ensembl Acc Id:

ENST00000605930 ⟹ ENSP00000475177

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	33,621,322 - 33,696,562 (+)	Ensembl

RefSeq Acc Id:

NM_002224 ⟹ NP_002215

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	33,621,322 - 33,696,562 (+)	NCBI
GRCh37	6	33,587,951 - 33,664,351 (+)	NCBI
Build 36	6	33,697,139 - 33,772,329 (+)	NCBI Archive
HuRef	6	33,330,927 - 33,406,007 (+)	ENTREZGENE
CHM1_1	6	33,591,516 - 33,666,641 (+)	NCBI
T2T-CHM13v2.0	6	33,442,507 - 33,517,747 (+)	NCBI

Sequence:

show sequence

AGACTTCCTGCTCCTTCTACGCTGCAGGTACGCGCGGGCCGGGCGGGGCGGGCGGGCGGCGGGC
GCGCCAAGACGTGGGCACCTCCTCACCCGGACCCCGGGCCCCGCCGAGCCGCCTCCTGGCTCCC
GTGGCCGCCAGCCCGCCCCGGCCGCACCGAGCGTCGGGATCCGAGGTGGGAGCGTACCCCTCCC
CGCTCCCCGGACGCCTCAGTCCTCCGCACTGAGCTTGGCCACGCGCCCCTAGGCGCCCCCCACG
CCCTGGGCCCCGGAGGGCCGCAGCCATGAGTGAAATGTCCAGCTTTCTTCACATCGGGGACATC
GTCTCCCTGTACGCCGAGGGCTCCGTCAATGGCTTCATCAGCACTTTGGGGCTGGTGGATGACC
GCTGTGTGGTGGAGCCCGCGGCCGGGGACCTGGACAACCCCCCTAAGAAGTTCCGTGACTGCCT
CTTCAAGGTGTGCCCCATGAACCGCTACTCGGCCCAGAAGCAGTACTGGAAGGCCAAGCAGACT
AAGCAGGACAAGGAGAAGATCGCTGATGTGGTGTTGCTGCAGAAGCTGCAGCATGCGGCGCAGA
TGGAGCAGAAGCAAAATGACACGGAGAACAAGAAGGTGCATGGGGATGTCGTGAAGTATGGCAG
TGTGATCCAGCTCCTGCACATGAAGAGCAACAAGTACCTGACAGTGAACAAGCGGCTTCCGGCC
TTGCTGGAGAAGAACGCCATGCGGGTGACTCTGGATGCCACAGGCAACGAGGGTTCCTGGCTCT
TCATCCAGCCCTTCTGGAAGCTGCGGAGCAACGGGGACAACGTGGTCGTGGGGGACAAGGTGAT
CCTGAATCCTGTCAATGCCGGGCAGCCTCTGCATGCCAGCAATTACGAGCTCAGCGACAACGCC
GGCTGCAAGGAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGT
TTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGGAGACGTGGTGCGGCTGTTCCATGCGGAGCA
GGAGAAGTTCCTGACGTGTGACGAGTACAAGGGCAAGCTGCAGGTGTTCCTGCGAACTACACTG
CGCCAGTCTGCCACCTCGGCCACCAGCTCCAATGCTCTCTGGGAGGTGGAGGTGGTCCACCACG
ACCCCTGCCGTGGAGGAGCTGGGCACTGGAATGGCTTGTACCGCTTCAAGCACCTGGCTACAGG
CAACTACCTGGCTGCTGAGGAGAACCCCAGTTACAAAGGTGATGCCTCAGATCCCAAGGCAGCA
GGAATGGGGGCACAGGGCCGCACAGGCCGCAGGAATGCTGGGGAGAAGATCAAGTACTGCCTGG
TGGCTGTGCCTCATGGCAATGACATCGCCTCTCTCTTTGAGCTGGACCCCACCACCTTGCAGAA
AACCGACTCTTTCGTGCCCCGGAACTCGTACGTCCGGCTGCGGCACCTCTGCACCAACACGTGG
ATTCAGAGCACCAATGTGCCCATTGACATCGAGGAGGAGCGGCCCATCCGGCTCATGCTGGGCA
CCTGCCCCACCAAGGAGGACAAGGAGGCCTTTGCCATCGTGTCAGTGCCCGTGTCTGAGATCCG
AGACCTGGACTTTGCCAATGACGCCAGCTCCATGCTGGCCAGTGCCGTGGAGAAACTCAACGAG
GGCTTCATCAGCCAGAATGACCGCAGGTTTGTCATCCAGCTGCTGGAAGACCTGGTGTTCTTTG
TCAGCGATGTCCCCAACAATGGGCAGAATGTCCTGGACATCATGGTCACTAAGCCCAACCGGGA
ACGGCAGAAGCTGATGAGGGAGCAGAACATCCTCAAACAGGTCTTTGGCATTCTGAAGGCCCCG
TTCCGTGAGAAGGGGGGTGAAGGTCCCCTGGTGCGGCTGGAGGAGCTGTCAGACCAGAAGAACG
CCCCCTACCAGCACATGTTCCGCCTGTGCTACCGCGTGTTGCGGCATTCCCAGGAGGACTACCG
CAAGAACCAGGAGCACATTGCCAAGCAGTTTGGGATGATGCAGTCCCAGATTGGCTACGACATC
CTGGCCGAGGACACCATCACTGCCCTGCTGCACAACAACCGCAAGCTCCTGGAAAAGCACATCA
CCAAGACCGAGGTGGAGACCTTCGTCAGCCTTGTGCGCAAGAACCGGGAGCCCAGGTTCCTGGA
CTACCTCTCTGACCTGTGTGTGTCCAACCACATCGCCATCCCCGTCACCCAAGAGCTCATCTGC
AAGTGTGTGCTGGACCCCAAGAACAGTGACATTCTCATCCGGACCGAGCTTCGGCCCGTGAAGG
AGATGGCCCAATCCCACGAGTACCTGAGCATCGAGTACTCAGAAGAGGAAGTGTGGCTCACGTG
GACTGACAAGAATAACGAGCATCATGAGAAGAGTGTGAGGCAGCTGGCCCAGGAGGCGCGGGCC
GGCAACGCCCACGACGAGAATGTGCTCAGCTACTACAGGTACCAGCTGAAGCTCTTTGCCCGCA
TGTGCTTGGACCGCCAGTACTTGGCCATCGACGAGATCTCCCAGCAGCTGGGCGTGGACCTGAT
TTTCCTGTGCATGGCAGACGAGATGCTGCCCTTTGACCTGCGCGCCTCCTTCTGCCACCTGATG
CTGCACGTGCACGTGGACCGTGACCCCCAGGAGCTGGTCACGCCGGTCAAGTTTGCCCGTCTCT
GGACTGAGATCCCCACAGCCATCACCATCAAGGACTATGATTCCAACCTCAACGCGTCCCGAGA
TGACAAGAAGAACAAGTTTGCCAACACCATGGAGTTCGTGGAGGACTACCTCAACAATGTAGTC
AGCGAGGCCGTGCCCTTTGCCAACGAGGAGAAGAACAAGCTCACTTTTGAGGTGGTCAGCCTGG
CGCACAATCTCATCTACTTCGGCTTCTACAGCTTCAGCGAGCTGCTGCGGCTCACTCGCACACT
GCTGGGCATCATCGACTGTGTGCAGGGGCCCCCGGCCATGCTGCAGGCCTATGAGGACCCCGGT
GGCAAGAATGTGCGGCGGTCCATCCAGGGCGTGGGGCACATGATGTCCACCATGGTGCTGAGCC
GCAAGCAGTCCGTCTTCAGTGCCCCCAGCCTGTCTGCTGGGGCCAGTGCTGCTGAGCCGCTGGA
CAGAAGCAAGTTTGAGGAGAATGAGGACATTGTGGTGATGGAGACCAAGCTGAAGATCCTGGAA
ATCCTTCAGTTCATCCTCAATGTCCGCCTGGATTACCGCATATCCTACCTGCTGTCTGTCTTCA
AGAAGGAGTTTGTGGAGGTGTTTCCCATGCAGGACAGTGGGGCTGATGGCACAGCCCCTGCCTT
CGACTCTACCACTGCCAACATGAACCTGGATCGCATCGGGGAGCAGGCGGAGGCCATGTTTGGA
GTGGGGAAGACAAGCAGCATGCTGGAGGTGGATGACGAGGGCGGCCGCATGTTCCTGCGCGTGC
TCATCCACCTCACCATGCACGACTATGCGCCGCTGGTCTCGGGTGCCCTGCAGCTGCTCTTCAA
GCACTTCAGCCAGCGCCAGGAGGCCATGCACACCTTCAAGCAGGTTCAGCTGCTGATCTCAGCG
CAGGACGTGGAGAACTACAAGGTGATCAAGTCGGAGCTGGACCGGCTGCGGACCATGGTGGAGA
AGTCAGAGCTGTGGGTGGACAAGAAGGGCAGTGGCAAGGGTGAGGAGGTGGAGGCAGGCGCCGC
CAAGGACAAGAAAGAGCGTCCCACGGACGAGGAGGGCTTTCTGCACCCACCAGGGGAGAAAAGC
AGTGAGAACTACCAGATCGTCAAGGGCATCCTGGAAAGGCTGAACAAGATGTGCGGGGTTGGGG
AGCAAATGAGGAAGAAGCAGCAACGGCTGCTGAAGAACATGGATGCCCACAAGGTCATGCTGGA
CCTGCTGCAGATCCCCTATGACAAGGGTGATGCCAAGATGATGGAGATCCTGCGCTACACGCAC
CAGTTCCTGCAGAAGTTCTGTGCAGGGAACCCCGGCAACCAGGCCCTGCTGCACAAACACCTGC
ACCTCTTCCTCACGCCAGGGCTCCTGGAGGCAGAGACCATGCAGCACATCTTCCTGAACAACTA
TCAGCTCTGCTCCGAGATCAGCGAGCCTGTGTTGCAGCACTTCGTGCACCTGCTGGCCACGCAC
GGGCGCCATGTGCAGTACCTGGACTTCCTGCACACCGTCATTAAGGCCGAGGGCAAGTACGTCA
AGAAGTGCCAGGACATGATCATGACTGAGCTGACCAATGCAGGTGACGATGTGGTCGTGTTCTA
CAATGATAAGGCATCGCTGGCCCACCTGCTGGACATGATGAAGGCCGCCCGCGACGGCGTGGAG
GACCACAGCCCCCTCATGTACCACATTTCCCTGGTGGACCTGCTGGCCGCCTGTGCCGAGGGCA
AAAACGTCTACACTGAGATCAAGTGCACCTCCCTGCTGCCGCTGGAGGACGTGGTGTCTGTGGT
GACGCATGAGGACTGCATCACTGAGGTGAAAATGGCCTATGTGAACTTCGTGAACCACTGCTAC
GTGGACACGGAGGTGGAGATGAAGGAGATCTACACCAGCAACCACATCTGGACGCTCTTTGAGA
ACTTCACCCTGGACATGGCCCGGGTCTGCAGCAAGCGTGAGAAGCGCGTGGCTGACCCCACCTT
GGAGAAGTACGTGCTGAGCGTTGTGCTGGACACCATCAACGCCTTCTTCAGCTCCCCATTCTCT
GAGAACAGCACTTCCCTGCAGACACACCAGACGATTGTGGTGCAGCTGCTGCAGTCTACCACAC
GCCTCCTCGAGTGTCCGTGGCTACAGCAGCAGCACAAGGGCTCCGTGGAGGCCTGCATCCGGAC
CCTCGCCATGGTGGCCAAGGGCCGGGCCATCTTGCTGCCCATGGACCTGGATGCCCACATCAGC
TCGATGCTCAGCAGTGGAGCCAGCTGTGCAGCTGCCGCCCAGCGGAACGCCTCCAGCTACAAGG
CAACCACGCGGGCCTTCCCCCGCGTCACCCCCACCGCCAACCAGTGGGACTACAAGAACATCAT
TGAGAAGCTGCAGGACATCATCACAGCCCTGGAGGAGCGGCTGAAGCCCCTGGTACAGGCTGAG
CTGTCCGTGCTGGTGGATGTCCTGCACTGGCCTGAGCTGCTCTTCCTGGAGGGCAGTGAGGCCT
ACCAGCGCTGCGAGAGTGGGGGCTTCCTGTCCAAGCTGATCCAGCACACCAAGGACCTCATGGA
GTCGGAGGAGAAGCTGTGCATCAAGGTGCTGCGGACCCTGCAGCAGATGCTGCTCAAGAAGACC
AAGTACGGGGACCGGGGCAACCAGCTGCGCAAGATGCTGCTGCAAAACTACCTCCAGAACCGGA
AGTCCACCTCGCGGGGGGACCTTCCCGACCCCATAGGCACTGGCCTGGACCCAGACTGGTCGGC
AATCGCAGCCACCCAGTGCCGGCTGGACAAGGAGGGGGCCACCAAGTTGGTATGCGACCTCATC
ACCAGCACCAAGAACGAGAAGATCTTCCAGGAGAGCATCGGCCTGGCCATCCACCTGCTGGATG
GTGGCAACACAGAGATCCAGAAATCCTTCCACAACCTGATGATGAGTGACAAGAAGTCAGAGCG
CTTCTTCAAGGTGCTGCACGACCGCATGAAGCGGGCCCAGCAGGAGACCAAGTCCACGGTGGCA
GTCAACATGAATGACCTGGGCAGCCAGCCACATGAGGACCGCGAGCCAGTCGACCCCACCACCA
AAGGCCGCGTGGCCTCCTTCTCGATACCTGGCTCCTCATCCCGCTACTCGCTGGGCCCCAGCCT
GCGCCGGGGGCACGAGGTGAGCGAACGTGTGCAGAGCAGTGAGATGGGCACATCCGTGCTCATC
ATGCAGCCCATCCTGCGCTTTCTGCAGCTGCTGTGTGAGAACCACAACCGGGACCTGCAGAACT
TCCTGCGCTGTCAGAACAACAAAACCAACTACAACTTGGTATGCGAGACGCTGCAGTTCCTGGA
CATCATGTGCGGCAGCACCACGGGCGGCCTGGGGCTGCTGGGGCTCTACATCAATGAGGACAAC
GTGGGCCTCGTCATCCAGACCTTGGAGACCCTCACTGAGTACTGCCAGGGCCCCTGCCATGAGA
ACCAGACTTGCATTGTGACTCACGAGTCCAATGGCATAGACATCATCACCGCACTGATCCTCAA
TGACATCAGCCCCCTGTGCAAGTACCGCATGGATCTGGTGCTGCAGCTCAAGGACAATGCCTCC
AAGCTGCTCCTGGCTCTGATGGAGAGCCGGCATGACAGTGAAAATGCTGAGCGAATCCTCATCA
GCCTGCGGCCCCAGGAGCTGGTGGACGTCATCAAGAAGGCCTACCTGCAGGAGGAAGAGCGTGA
GAACTCGGAGGTGAGCCCACGTGAAGTGGGCCATAACATCTATATCCTGGCGCTGCAGCTCTCC
AGGCACAATAAACAGCTGCAGCACCTGCTGAAGCCGGTGAAGCGCATTCAAGAGGAGGAGGCCG
AGGGTATCTCTTCCATGCTCAGCCTCAACAACAAGCAGCTGTCACAGATGCTCAAGTCCTCAGC
GCCAGCACAGGAGGAGGAGGAAGACCCCCTGGCCTACTATGAGAACCACACGTCCCAGATCGAG
ATTGTGCGGCAGGACCGCAGCATGGAGCAGATCGTGTTCCCAGTGCCCGGCATCTGCCAGTTCC
TGACGGAGGAAACCAAGCACCGGCTCTTCACCACTACTGAGCAGGACGAGCAGGGCAGCAAAGT
GAGCGACTTCTTCGACCAGTCCTCCTTCCTGCACAACGAGATGGAGTGGCAGCGCAAGCTCCGC
AGCATGCCGCTGATCTACTGGTTCTCCCGCCGCATGACCCTGTGGGGCAGCATCTCCTTCAACC
TGGCCGTGTTTATCAACATCATCATTGCCTTCTTCTACCCTTACATGGAGGGCGCGTCCACAGG
CGTGCTGGACTCCCCTCTCATCTCATTGCTCTTCTGGATCCTCATCTGCTTCTCCATCGCGGCC
CTGTTCACCAAGCGCTACAGCATCCGCCCCCTCATCGTGGCGCTCATCCTGCGCTCCATCTACT
ATCTGGGCATCGGGCCCACACTCAACATCCTGGGTGCCCTCAATCTGACCAACAAGATCGTGTT
TGTGGTGAGCTTCGTGGGCAACCGTGGCACCTTCATCCGGGGCTATAAGGCCATGGTCATGGAC
ATGGAATTCCTCTACCACGTGGGCTACATCCTGACCAGTGTCCTGGGCCTCTTTGCTCATGAGC
TGTTCTACAGCATCCTGCTCTTTGACCTCATCTACCGCGAGGAGACGCTGTTCAACGTCATCAA
GAGTGTGACCCGCAATGGCCGCTCCATCCTGCTGACAGCCCTGCTGGCCCTCATCCTGGTCTAC
CTCTTCTCCATCGTCGGCTTCCTCTTCCTCAAGGATGACTTCATTCTCGAGGTCGACCGGCTGC
CCAACAACCACTCCACAGCCAGCCCCCTGGGGATGCCACATGGAGCTGCTGCATTTGTGGACAC
CTGCAGTGGGGACAAGATGGACTGTGTCTCAGGGCTCTCGGTGCCTGAGGTCCTGGAAGAGGAC
AGGGAGCTGGACAGCACAGAGCGGGCCTGTGACACTCTGTTGATGTGCATCGTCACTGTCATGA
ACCATGGGCTACGCAACGGTGGTGGCGTGGGCGACATTCTCCGCAAGCCCTCCAAAGATGAGTC
TCTCTTCCCAGCCCGAGTGGTCTATGACCTCCTGTTCTTCTTCATCGTCATCATCATTGTGCTG
AACCTCATCTTTGGGGTAATCATCGACACCTTCGCTGACCTGCGTAGTGAGAAGCAGAAGAAGG
AGGAGATTCTTAAGACGACATGCTTCATCTGTGGTCTGGAGAGGGACAAGTTTGATAACAAGAC
AGTGTCATTTGAGGAACACATCAAGCTGGAGCACAACATGTGGAACTACTTGTACTTCATTGTG
CTGGTCCGCGTGAAGAACAAGACCGACTACACGGGCCCTGAGAGCTACGTGGCCCAGATGATCA
AGAACAAGAACCTGGACTGGTTCCCCCGGATGCGGGCCATGTCCCTTGTCAGCAATGAGGGCGA
GGGGGAGCAGAATGAGATTCGGATTCTCCAGGACAAGCTCAACTCCACCATGAAGCTGGTGTCC
CACCTCACTGCCCAGCTCAACGAGCTCAAGGAGCAGATGACGGAGCAGCGGAAACGCAGGCAAC
GCCTAGGCTTTGTGGATGTCCAGAACTGCATTAGCCGCTGAGGAGAGCCACCGAAGGCCCCAAC
AGGGGATGCTCATCACTGGAGACTGCGACTGGGAAGAACACTGCCCCCTCCCTCGGGTTGGGTG
GCCCAGCCAGCTGGCCAGCCTCCACTCCCACTCTGCCAGACACCCTGACACCCACCCAGGCTTT
GAAGAGCATGGAGGGGGAGCCTCAGAGCTGACAGTCCTGCTTAGAGCCCTTAAAAAGACTTGAA
AGTTCACTGGGACTCAGTTTACCTTAATGCCTTAGCAGAAGATAAATCCTACCTAGAGACCTTT
GTTCCTTAAAGCAATAACTGACAACTCTTTGTAGTCCTCCTTGTGGGTAGTTAAGAGTGGGGTC
ACCCCTTTAACTCCAAGCACTACATTTTGGCGGCTGCCGGCCTCTGGGGGAGGTGGCAGTTATG
CTGTTACTAGTGATTTTAGGGCTTTGTTATTTAACTTATTTCAAGGGTGCTGTGCTCAGCCCTG
CCCATGGCTGTGCAGCTCCCTCCGTGCCTCAGATCTGCTGTAGCCAGTGCAGACCTCACTGTCG
TGTCCATGCCACCCCCGGCATGGCTCCAGGTGGCCTGGTGACTCCATGATGGACGATCTTGCTC
CCAGGACCTGCCTCTTCCCAGGCTTCCTGGGGAAGAGTTGTACGCCCAGGCAACAAGGGCTGAG
CTGCGCTTGCGTGGCTGTTTCATGACCGCTTGTTTTTCTCCTTTTGGTGTAATGTTTTACAAAT
CCTTTGGCCTGAGAACTAATATGTTAATTGCCTTAAATAAATTAATAGAAATCTA

hide sequence

RefSeq Acc Id:

XM_011514577 ⟹ XP_011512879

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	33,652,584 - 33,696,562 (+)	NCBI

Sequence:

show sequence

CCTCCTGAGTAGCTGGGATTACAGACTGCCTCTTCAAGGTGTGCCCCATGAACCGCTACTCGGC
CCAGAAGCAGTACTGGAAGGCCAAGCAGACTAAGCAGGACAAGGAGAAGATCGCTGATGTGGTG
TTGCTGCAGAAGCTGCAGCATGCGGCGCAGATGGAGCAGAAGCAAAATGACACGGAGAACAAGA
AGGTGCATGGGGATGTCGTGAAGTATGGCAGTGTGATCCAGCTCCTGCACATGAAGAGCAACAA
GTACCTGACAGTGAACAAGCGGCTTCCGGCCTTGCTGGAGAAGAACGCCATGCGGGTGACTCTG
GATGCCACAGGCAACGAGGGTTCCTGGCTCTTCATCCAGCCCTTCTGGAAGCTGCGGAGCAACG
GGGACAACGTGGTCGTGGGGGACAAGGTGATCCTGAATCCTGTCAATGCCGGGCAGCCTCTGCA
TGCCAGCAATTACGAGCTCAGCGACAACGCCGGCTGCAAGGAGGTCAATTCTGTGAACTGCAAC
ACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGG
GAGACGTGGTGCGGCTGTTCCATGCGGAGCAGGAGAAGTTCCTGACGTGTGACGAGTACAAGGG
CAAGCTGCAGGTGTTCCTGCGAACTACACTGCGCCAGTCTGCCACCTCGGCCACCAGCTCCAAT
GCTCTCTGGGAGGTGGAGGTGGTCCACCACGACCCCTGCCGTGGAGGAGCTGGGCACTGGAATG
GCTTGTACCGCTTCAAGCACCTGGCTACAGGCAACTACCTGGCTGCTGAGGAGAACCCCAGTTA
CAAAGGTGATGCCTCAGATCCCAAGGCAGCAGGAATGGGGGCACAGGGCCGCACAGGCCGCAGG
AATGCTGGGGAGAAGATCAAGTACTGCCTGGTGGCTGTGCCTCATGGCAATGACATCGCCTCTC
TCTTTGAGCTGGACCCCACCACCTTGCAGAAAACCGACTCTTTCGTGCCCCGGAACTCGTACGT
CCGGCTGCGGCACCTCTGCACCAACACGTGGATTCAGAGCACCAATGTGCCCATTGACATCGAG
GAGGAGCGGCCCATCCGGCTCATGCTGGGCACCTGCCCCACCAAGGAGGACAAGGAGGCCTTTG
CCATCGTGTCAGTGCCCGTGTCTGAGATCCGAGACCTGGACTTTGCCAATGACGCCAGCTCCAT
GCTGGCCAGTGCCGTGGAGAAACTCAACGAGGGCTTCATCAGCCAGAATGACCGCAGGTTTGTC
ATCCAGCTGCTGGAAGACCTGGTGTTCTTTGTCAGCGATGTCCCCAACAATGGGCAGAATGTCC
TGGACATCATGGTCACTAAGCCCAACCGGGAACGGCAGAAGCTGATGAGGGAGCAGAACATCCT
CAAACAGGTCTTTGGCATTCTGAAGGCCCCGTTCCGTGAGAAGGGGGGTGAAGGTCCCCTGGTG
CGGCTGGAGGAGCTGTCAGACCAGAAGAACGCCCCCTACCAGCACATGTTCCGCCTGTGCTACC
GCGTGTTGCGGCATTCCCAGGAGGACTACCGCAAGAACCAGGAGCACATTGCCAAGCAGTTTGG
GATGATGCAGTCCCAGATTGGCTACGACATCCTGGCCGAGGACACCATCACTGCCCTGCTGCAC
AACAACCGCAAGCTCCTGGAAAAGCACATCACCAAGACCGAGGTGGAGACCTTCGTCAGCCTTG
TGCGCAAGAACCGGGAGCCCAGGTTCCTGGACTACCTCTCTGACCTGTGTGTGTCCAACCACAT
CGCCATCCCCGTCACCCAAGAGCTCATCTGCAAGTGTGTGCTGGACCCCAAGAACAGTGACATT
CTCATCCGGACCGAGCTTCGGCCCGTGAAGGAGATGGCCCAATCCCACGAGTACCTGAGCATCG
AGTACTCAGAAGAGGAAGTGTGGCTCACGTGGACTGACAAGAATAACGAGCATCATGAGAAGAG
TGTGAGGCAGCTGGCCCAGGAGGCGCGGGCCGGCAACGCCCACGACGAGAATGTGCTCAGCTAC
TACAGGTACCAGCTGAAGCTCTTTGCCCGCATGTGCTTGGACCGCCAGTACTTGGCCATCGACG
AGATCTCCCAGCAGCTGGGCGTGGACCTGATTTTCCTGTGCATGGCAGACGAGATGCTGCCCTT
TGACCTGCGCGCCTCCTTCTGCCACCTGATGCTGCACGTGCACGTGGACCGTGACCCCCAGGAG
CTGGTCACGCCGGTCAAGTTTGCCCGTCTCTGGACTGAGATCCCCACAGCCATCACCATCAAGG
ACTATGATTCCAACCTCAACGCGTCCCGAGATGACAAGAAGAACAAGTTTGCCAACACCATGGA
GTTCGTGGAGGACTACCTCAACAATGTAGTCAGCGAGGCCGTGCCCTTTGCCAACGAGGAGAAG
AACAAGCTCACTTTTGAGGTGGTCAGCCTGGCGCACAATCTCATCTACTTCGGCTTCTACAGCT
TCAGCGAGCTGCTGCGGCTCACTCGCACACTGCTGGGCATCATCGACTGTGTGCAGGGGCCCCC
GGCCATGCTGCAGGCCTATGAGGACCCCGGTGGCAAGAATGTGCGGCGGTCCATCCAGGGCGTG
GGGCACATGATGTCCACCATGGTGCTGAGCCGCAAGCAGTCCGTCTTCAGTGCCCCCAGCCTGT
CTGCTGGGGCCAGTGCTGCTGAGCCGCTGGACAGAAGCAAGTTTGAGGAGAATGAGGACATTGT
GGTGATGGAGACCAAGCTGAAGATCCTGGAAATCCTTCAGTTCATCCTCAATGTCCGCCTGGAT
TACCGCATATCCTACCTGCTGTCTGTCTTCAAGAAGGAGTTTGTGGAGGTGTTTCCCATGCAGG
ACAGTGGGGCTGATGGCACAGCCCCTGCCTTCGACTCTACCACTGCCAACATGAACCTGGATCG
CATCGGGGAGCAGGCGGAGGCCATGTTTGGAGTGGGGAAGACAAGCAGCATGCTGGAGGTGGAT
GACGAGGGCGGCCGCATGTTCCTGCGCGTGCTCATCCACCTCACCATGCACGACTATGCGCCGC
TGGTCTCGGGTGCCCTGCAGCTGCTCTTCAAGCACTTCAGCCAGCGCCAGGAGGCCATGCACAC
CTTCAAGCAGGTTCAGCTGCTGATCTCAGCGCAGGACGTGGAGAACTACAAGGTGATCAAGTCG
GAGCTGGACCGGCTGCGGACCATGGTGGAGAAGTCAGAGCTGTGGGTGGACAAGAAGGGCAGTG
GCAAGGGTGAGGAGGTGGAGGCAGGCGCCGCCAAGGACAAGAAAGAGCGTCCCACGGACGAGGA
GGGCTTTCTGCACCCACCAGGGGAGAAAAGCAGTGAGAACTACCAGATCGTCAAGGGCATCCTG
GAAAGGCTGAACAAGATGTGCGGGGTTGGGGAGCAAATGAGGAAGAAGCAGCAACGGCTGCTGA
AGAACATGGATGCCCACAAGGTCATGCTGGACCTGCTGCAGATCCCCTATGACAAGGGTGATGC
CAAGATGATGGAGATCCTGCGCTACACGCACCAGTTCCTGCAGAAGTTCTGTGCAGGGAACCCC
GGCAACCAGGCCCTGCTGCACAAACACCTGCACCTCTTCCTCACGCCAGGGCTCCTGGAGGCAG
AGACCATGCAGCACATCTTCCTGAACAACTATCAGCTCTGCTCCGAGATCAGCGAGCCTGTGTT
GCAGCACTTCGTGCACCTGCTGGCCACGCACGGGCGCCATGTGCAGTACCTGGACTTCCTGCAC
ACCGTCATTAAGGCCGAGGGCAAGTACGTCAAGAAGTGCCAGGACATGATCATGACTGAGCTGA
CCAATGCAGGTGACGATGTGGTCGTGTTCTACAATGATAAGGCATCGCTGGCCCACCTGCTGGA
CATGATGAAGGCCGCCCGCGACGGCGTGGAGGACCACAGCCCCCTCATGTACCACATTTCCCTG
GTGGACCTGCTGGCCGCCTGTGCCGAGGGCAAAAACGTCTACACTGAGATCAAGTGCACCTCCC
TGCTGCCGCTGGAGGACGTGGTGTCTGTGGTGACGCATGAGGACTGCATCACTGAGGTGAAAAT
GGCCTATGTGAACTTCGTGAACCACTGCTACGTGGACACGGAGGTGGAGATGAAGGAGATCTAC
ACCAGCAACCACATCTGGACGCTCTTTGAGAACTTCACCCTGGACATGGCCCGGGTCTGCAGCA
AGCGTGAGAAGCGCGTGGCTGACCCCACCTTGGAGAAGTACGTGCTGAGCGTTGTGCTGGACAC
CATCAACGCCTTCTTCAGCTCCCCATTCTCTGAGAACAGCACTTCCCTGCAGACACACCAGACG
ATTGTGGTGCAGCTGCTGCAGTCTACCACACGCCTCCTCGAGTGTCCGTGGCTACAGCAGCAGC
ACAAGGGCTCCGTGGAGGCCTGCATCCGGACCCTCGCCATGGTGGCCAAGGGCCGGGCCATCTT
GCTGCCCATGGACCTGGATGCCCACATCAGCTCGATGCTCAGCAGTGGAGCCAGCTGTGCAGCT
GCCGCCCAGCGGAACGCCTCCAGCTACAAGGCAACCACGCGGGCCTTCCCCCGCGTCACCCCCA
CCGCCAACCAGTGGGACTACAAGAACATCATTGAGAAGCTGCAGGACATCATCACAGCCCTGGA
GGAGCGGCTGAAGCCCCTGGTACAGGCTGAGCTGTCCGTGCTGGTGGATGTCCTGCACTGGCCT
GAGCTGCTCTTCCTGGAGGGCAGTGAGGCCTACCAGCGCTGCGAGAGTGGGGGCTTCCTGTCCA
AGCTGATCCAGCACACCAAGGACCTCATGGAGTCGGAGGAGAAGCTGTGCATCAAGGTGCTGCG
GACCCTGCAGCAGATGCTGCTCAAGAAGACCAAGTACGGGGACCGGGGCAACCAGCTGCGCAAG
ATGCTGCTGCAAAACTACCTCCAGAACCGGAAGTCCACCTCGCGGGGGGACCTTCCCGACCCCA
TAGGCACTGGCCTGGACCCAGACTGGTCGGCAATCGCAGCCACCCAGTGCCGGCTGGACAAGGA
GGGGGCCACCAAGTTGGTATGCGACCTCATCACCAGCACCAAGAACGAGAAGATCTTCCAGGAG
AGCATCGGCCTGGCCATCCACCTGCTGGATGGTGGCAACACAGAGATCCAGAAATCCTTCCACA
ACCTGATGATGAGTGACAAGAAGTCAGAGCGCTTCTTCAAGGTGCTGCACGACCGCATGAAGCG
GGCCCAGCAGGAGACCAAGTCCACGGTGGCAGTCAACATGAATGACCTGGGCAGCCAGCCACAT
GAGGACCGCGAGCCAGTCGACCCCACCACCAAAGGCCGCGTGGCCTCCTTCTCGATACCTGGCT
CCTCATCCCGCTACTCGCTGGGCCCCAGCCTGCGCCGGGGGCACGAGGTGAGCGAACGTGTGCA
GAGCAGTGAGATGGGCACATCCGTGCTCATCATGCAGCCCATCCTGCGCTTTCTGCAGCTGCTG
TGTGAGAACCACAACCGGGACCTGCAGAACTTCCTGCGCTGTCAGAACAACAAAACCAACTACA
ACTTGGTATGCGAGACGCTGCAGTTCCTGGACATCATGTGCGGCAGCACCACGGGCGGCCTGGG
GCTGCTGGGGCTCTACATCAATGAGGACAACGTGGGCCTCGTCATCCAGACCTTGGAGACCCTC
ACTGAGTACTGCCAGGGCCCCTGCCATGAGAACCAGACTTGCATTGTGACTCACGAGTCCAATG
GCATAGACATCATCACCGCACTGATCCTCAATGACATCAGCCCCCTGTGCAAGTACCGCATGGA
TCTGGTGCTGCAGCTCAAGGACAATGCCTCCAAGCTGCTCCTGGCTCTGATGGAGAGCCGGCAT
GACAGTGAAAATGCTGAGCGAATCCTCATCAGCCTGCGGCCCCAGGAGCTGGTGGACGTCATCA
AGAAGGCCTACCTGCAGGAGGAAGAGCGTGAGAACTCGGAGGTGAGCCCACGTGAAGTGGGCCA
TAACATCTATATCCTGGCGCTGCAGCTCTCCAGGCACAATAAACAGCTGCAGCACCTGCTGAAG
CCGGTGAAGCGCATTCAAGAGGAGGAGGCCGAGGGTATCTCTTCCATGCTCAGCCTCAACAACA
AGCAGCTGTCACAGATGCTCAAGTCCTCAGCGCCAGCACAGGAGGAGGAGGAAGACCCCCTGGC
CTACTATGAGAACCACACGTCCCAGATCGAGATTGTGCGGCAGGACCGCAGCATGGAGCAGATC
GTGTTCCCAGTGCCCGGCATCTGCCAGTTCCTGACGGAGGAAACCAAGCACCGGCTCTTCACCA
CTACTGAGCAGGACGAGCAGGGCAGCAAAGTGAGCGACTTCTTCGACCAGTCCTCCTTCCTGCA
CAACGAGATGGAGTGGCAGCGCAAGCTCCGCAGCATGCCGCTGATCTACTGGTTCTCCCGCCGC
ATGACCCTGTGGGGCAGCATCTCCTTCAACCTGGCCGTGTTTATCAACATCATCATTGCCTTCT
TCTACCCTTACATGGAGGGCGCGTCCACAGGCGTGCTGGACTCCCCTCTCATCTCATTGCTCTT
CTGGATCCTCATCTGCTTCTCCATCGCGGCCCTGTTCACCAAGCGCTACAGCATCCGCCCCCTC
ATCGTGGCGCTCATCCTGCGCTCCATCTACTATCTGGGCATCGGGCCCACACTCAACATCCTGG
GTGCCCTCAATCTGACCAACAAGATCGTGTTTGTGGTGAGCTTCGTGGGCAACCGTGGCACCTT
CATCCGGGGCTATAAGGCCATGGTCATGGACATGGAATTCCTCTACCACGTGGGCTACATCCTG
ACCAGTGTCCTGGGCCTCTTTGCTCATGAGCTGTTCTACAGCATCCTGCTCTTTGACCTCATCT
ACCGCGAGGAGACGCTGTTCAACGTCATCAAGAGTGTGACCCGCAATGGCCGCTCCATCCTGCT
GACAGCCCTGCTGGCCCTCATCCTGGTCTACCTCTTCTCCATCGTCGGCTTCCTCTTCCTCAAG
GATGACTTCATTCTCGAGGTCGACCGGCTGCCCAACAACCACTCCACAGCCAGCCCCCTGGGGA
TGCCACATGGAGCTGCTGCATTTGTGGACACCTGCAGTGGGGACAAGATGGACTGTGTCTCAGG
GCTCTCGGTGCCTGAGGTCCTGGAAGAGGACAGGGAGCTGGACAGCACAGAGCGGGCCTGTGAC
ACTCTGTTGATGTGCATCGTCACTGTCATGAACCATGGGCTACGCAACGGTGGTGGCGTGGGCG
ACATTCTCCGCAAGCCCTCCAAAGATGAGTCTCTCTTCCCAGCCCGAGTGGTCTATGACCTCCT
GTTCTTCTTCATCGTCATCATCATTGTGCTGAACCTCATCTTTGGGGTAATCATCGACACCTTC
GCTGACCTGCGTAGTGAGAAGCAGAAGAAGGAGGAGATTCTTAAGACGACATGCTTCATCTGTG
GTCTGGAGAGGGACAAGTTTGATAACAAGACAGTGTCATTTGAGGAACACATCAAGCTGGAGCA
CAACATGTGGAACTACTTGTACTTCATTGTGCTGGTCCGCGTGAAGAACAAGACCGACTACACG
GGCCCTGAGAGCTACGTGGCCCAGATGATCAAGAACAAGAACCTGGACTGGTTCCCCCGGATGC
GGGCCATGTCCCTTGTCAGCAATGAGGGCGAGGGGGAGCAGAATGAGATTCGGATTCTCCAGGA
CAAGCTCAACTCCACCATGAAGCTGGTGTCCCACCTCACTGCCCAGCTCAACGAGCTCAAGGAG
CAGATGACGGAGCAGCGGAAACGCAGGCAACGCCTAGGCTTTGTGGATGTCCAGAACTGCATTA
GCCGCTGAGGAGAGCCACCGAAGGCCCCAACAGGGGATGCTCATCACTGGAGACTGCGACTGGG
AAGAACACTGCCCCCTCCCTCGGGTTGGGTGGCCCAGCCAGCTGGCCAGCCTCCACTCCCACTC
TGCCAGACACCCTGACACCCACCCAGGCTTTGAAGAGCATGGAGGGGGAGCCTCAGAGCTGACA
GTCCTGCTTAGAGCCCTTAAAAAGACTTGAAAGTTCACTGGGACTCAGTTTACCTTAATGCCTT
AGCAGAAGATAAATCCTACCTAGAGACCTTTGTTCCTTAAAGCAATAACTGACAACTCTTTGTA
GTCCTCCTTGTGGGTAGTTAAGAGTGGGGTCACCCCTTTAACTCCAAGCACTACATTTTGGCGG
CTGCCGGCCTCTGGGGGAGGTGGCAGTTATGCTGTTACTAGTGATTTTAGGGCTTTGTTATTTA
ACTTATTTCAAGGGTGCTGTGCTCAGCCCTGCCCATGGCTGTGCAGCTCCCTCCGTGCCTCAGA
TCTGCTGTAGCCAGTGCAGACCTCACTGTCGTGTCCATGCCACCCCCGGCATGGCTCCAGGTGG
CCTGGTGACTCCATGATGGACGATCTTGCTCCCAGGACCTGCCTCTTCCCAGGCTTCCTGGGGA
AGAGTTGTACGCCCAGGCAACAAGGGCTGAGCTGCGCTTGCGTGGCTGTTTCATGACCGCTTGT
TTTTCTCCTTTTGGTGTAATGTTTTACAAATCCTTTGGCCTGAGAACTAATATGTTAATTGCCT
TAAATAAATTAATAGAAATCTA

hide sequence

RefSeq Acc Id:

XM_017010832 ⟹ XP_016866321

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	33,621,322 - 33,679,982 (+)	NCBI

Sequence:

show sequence

TCCTTCTACGCTGCAGGCGCCCCCCACGCCCTGGGCCCCGGAGGGCCGCAGCCATGAGTGAAAT
GTCCAGCTTTCTTCACATCGGGGACATCGTCTCCCTGTACGCCGAGGGCTCCGTCAATGGCTTC
ATCAGCACTTTGGGGCTGGTGGATGACCGCTGTGTGGTGGAGCCCGCGGCCGGGGACCTGGACA
ACCCCCCTAAGAAGTTCCGTGACTGCCTCTTCAAGGTGTGCCCCATGAACCGCTACTCGGCCCA
GAAGCAGTACTGGAAGGCCAAGCAGACTAAGCAGGACAAGGAGAAGATCGCTGATGTGGTGTTG
CTGCAGAAGCTGCAGCATGCGGCGCAGATGGAGCAGAAGCAAAATGACACGGAGAACAAGAAGG
TGCATGGGGATGTCGTGAAGTATGGCAGTGTGATCCAGCTCCTGCACATGAAGAGCAACAAGTA
CCTGACAGTGAACAAGCGGCTTCCGGCCTTGCTGGAGAAGAACGCCATGCGGGTGACTCTGGAT
GCCACAGGCAACGAGGGTTCCTGGCTCTTCATCCAGCCCTTCTGGAAGCTGCGGAGCAACGGGG
ACAACGTGGTCGTGGGGGACAAGGTGATCCTGAATCCTGTCAATGCCGGGCAGCCTCTGCATGC
CAGCAATTACGAGCTCAGCGACAACGCCGGCTGCAAGGAGGTCAATTCTGTGAACTGCAACACC
AGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGGAG
ACGTGGTGCGGCTGTTCCATGCGGAGCAGGAGAAGTTCCTGACGTGTGACGAGTACAAGGGCAA
GCTGCAGGTGTTCCTGCGAACTACACTGCGCCAGTCTGCCACCTCGGCCACCAGCTCCAATGCT
CTCTGGGAGGTGGAGGTGGTCCACCACGACCCCTGCCGTGGAGGAGCTGGGCACTGGAATGGCT
TGTACCGCTTCAAGCACCTGGCTACAGGCAACTACCTGGCTGCTGAGGAGAACCCCAGTTACAA
AGGTGATGCCTCAGATCCCAAGGCAGCAGGAATGGGGGCACAGGGCCGCACAGGCCGCAGGAAT
GCTGGGGAGAAGATCAAGTACTGCCTGGTGGCTGTGCCTCATGGCAATGACATCGCCTCTCTCT
TTGAGCTGGACCCCACCACCTTGCAGAAAACCGACTCTTTCGTGCCCCGGAACTCGTACGTCCG
GCTGCGGCACCTCTGCACCAACACGTGGATTCAGAGCACCAATGTGCCCATTGACATCGAGGAG
GAGCGGCCCATCCGGCTCATGCTGGGCACCTGCCCCACCAAGGAGGACAAGGAGGCCTTTGCCA
TCGTGTCAGTGCCCGTGTCTGAGATCCGAGACCTGGACTTTGCCAATGACGCCAGCTCCATGCT
GGCCAGTGCCGTGGAGAAACTCAACGAGGGCTTCATCAGCCAGAATGACCGCAGGTTTGTCATC
CAGCTGCTGGAAGACCTGGTGTTCTTTGTCAGCGATGTCCCCAACAATGGGCAGAATGTCCTGG
ACATCATGGTCACTAAGCCCAACCGGGAACGGCAGAAGCTGATGAGGGAGCAGAACATCCTCAA
ACAGGTCTTTGGCATTCTGAAGGCCCCGTTCCGTGAGAAGGGGGGTGAAGGTCCCCTGGTGCGG
CTGGAGGAGCTGTCAGACCAGAAGAACGCCCCCTACCAGCACATGTTCCGCCTGTGCTACCGCG
TGTTGCGGCATTCCCAGGAGGACTACCGCAAGAACCAGGAGCACATTGCCAAGCAGTTTGGGAT
GATGCAGTCCCAGATTGGCTACGACATCCTGGCCGAGGACACCATCACTGCCCTGCTGCACAAC
AACCGCAAGCTCCTGGAAAAGCACATCACCAAGACCGAGGTGGAGACCTTCGTCAGCCTTGTGC
GCAAGAACCGGGAGCCCAGGTTCCTGGACTACCTCTCTGACCTGTGTGTGTCCAACCACATCGC
CATCCCCGTCACCCAAGAGCTCATCTGCAAGTGTGTGCTGGACCCCAAGAACAGTGACATTCTC
ATCCGGACCGAGCTTCGGCCCGTGAAGGAGATGGCCCAATCCCACGAGTACCTGAGCATCGAGT
ACTCAGAAGAGGAAGTGTGGCTCACGTGGACTGACAAGAATAACGAGCATCATGAGAAGAGTGT
GAGGCAGCTGGCCCAGGAGGCGCGGGCCGGCAACGCCCACGACGAGAATGTGCTCAGCTACTAC
AGGTACCAGCTGAAGCTCTTTGCCCGCATGTGCTTGGACCGCCAGTACTTGGCCATCGACGAGA
TCTCCCAGCAGCTGGGCGTGGACCTGATTTTCCTGTGCATGGCAGACGAGATGCTGCCCTTTGA
CCTGCGCGCCTCCTTCTGCCACCTGATGCTGCACGTGCACGTGGACCGTGACCCCCAGGAGCTG
GTCACGCCGGTCAAGTTTGCCCGTCTCTGGACTGAGATCCCCACAGCCATCACCATCAAGGACT
ATGATTCCAACCTCAACGCGTCCCGAGATGACAAGAAGAACAAGTTTGCCAACACCATGGAGTT
CGTGGAGGACTACCTCAACAATGTAGTCAGCGAGGCCGTGCCCTTTGCCAACGAGGAGAAGAAC
AAGCTCACTTTTGAGGTGGTCAGCCTGGCGCACAATCTCATCTACTTCGGCTTCTACAGCTTCA
GCGAGCTGCTGCGGCTCACTCGCACACTGCTGGGCATCATCGACTGTGTGCAGGGGCCCCCGGC
CATGCTGCAGGCCTATGAGGACCCCGGTGGCAAGAATGTGCGGCGGTCCATCCAGGGCGTGGGG
CACATGATGTCCACCATGGTGCTGAGCCGCAAGCAGTCCGTCTTCAGTGCCCCCAGCCTGTCTG
CTGGGGCCAGTGCTGCTGAGCCGCTGGACAGAAGCAAGTTTGAGGAGAATGAGGACATTGTGGT
GATGGAGACCAAGCTGAAGATCCTGGAAATCCTTCAGTTCATCCTCAATGTCCGCCTGGATTAC
CGCATATCCTACCTGCTGTCTGTCTTCAAGAAGGAGTTTGTGGAGGTGTTTCCCATGCAGGACA
GTGGGGCTGATGGCACAGCCCCTGCCTTCGACTCTACCACTGCCAACATGAACCTGGATCGCAT
CGGGGAGCAGGCGGAGGCCATGTTTGGAGTGGGGAAGACAAGCAGCATGCTGGAGGTGGATGAC
GAGGGCGGCCGCATGTTCCTGCGCGTGCTCATCCACCTCACCATGCACGACTATGCGCCGCTGG
TCTCGGGTGCCCTGCAGCTGCTCTTCAAGCACTTCAGCCAGCGCCAGGAGGCCATGCACACCTT
CAAGCAGGTTCAGCTGCTGATCTCAGCGCAGGACGTGGAGAACTACAAGGTGATCAAGTCGGAG
CTGGACCGGCTGCGGACCATGGTGGAGAAGTCAGAGCTGTGGGTGGACAAGAAGGGCAGTGGCA
AGGGTGAGGAGGTGGAGGCAGGCGCCGCCAAGGACAAGAAAGAGCGTCCCACGGACGAGGAGGG
CTTTCTGCACCCACCAGGGGAGAAAAGCAGTGAGAACTACCAGATCGTCAAGGGCATCCTGGAA
AGGCTGAACAAGATGTGCGGGGTTGGGGAGCAAATGAGGAAGAAGCAGCAACGGCTGCTGAAGA
ACATGGATGCCCACAAGGTCATGCTGGACCTGCTGCAGATCCCCTATGACAAGGGTGATGCCAA
GATGATGGAGATCCTGCGCTACACGCACCAGTTCCTGCAGAAGTTCTGTGCAGGGAACCCCGGC
AACCAGGCCCTGCTGCACAAACACCTGCACCTCTTCCTCACGCCAGGGCTCCTGGAGGCAGAGA
CCATGCAGCACATCTTCCTGAACAACTATCAGCTCTGCTCCGAGATCAGCGAGCCTGTGTTGCA
GCACTTCGTGCACCTGCTGGCCACGCACGGGCGCCATGTGCAGTACCTGGACTTCCTGCACACC
GTCATTAAGGCCGAGGGCAACTGACCAATGCAGGTGACGATGTGGTCGTGTTCTACAATGATAA
GGCATCGCTGGCCCACCTGCTGGACATGATGAAGGCCGCCCGCGACGGCGTGGAGGA

hide sequence

RefSeq Acc Id:

XM_047418731 ⟹ XP_047274687

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	33,621,322 - 33,696,562 (+)	NCBI

RefSeq Acc Id:

XM_047418732 ⟹ XP_047274688

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	33,621,789 - 33,696,562 (+)	NCBI

RefSeq Acc Id:

XM_047418733 ⟹ XP_047274689

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	33,633,876 - 33,696,562 (+)	NCBI

RefSeq Acc Id:

XM_047418734 ⟹ XP_047274690

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	33,623,346 - 33,696,562 (+)	NCBI

RefSeq Acc Id:

XM_054355351 ⟹ XP_054211326

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	6	33,442,464 - 33,517,747 (+)	NCBI

RefSeq Acc Id:

XM_054355352 ⟹ XP_054211327

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	6	33,442,974 - 33,517,747 (+)	NCBI

RefSeq Acc Id:

XM_054355353 ⟹ XP_054211328

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	6	33,455,069 - 33,517,747 (+)	NCBI

RefSeq Acc Id:

XM_054355354 ⟹ XP_054211329

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	6	33,473,775 - 33,517,747 (+)	NCBI

RefSeq Acc Id:

XM_054355355 ⟹ XP_054211330

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	6	33,442,475 - 33,501,168 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_002215	(Get FASTA)	NCBI Sequence Viewer
	XP_011512879	(Get FASTA)	NCBI Sequence Viewer
	XP_016866321	(Get FASTA)	NCBI Sequence Viewer
	XP_047274687	(Get FASTA)	NCBI Sequence Viewer
	XP_047274688	(Get FASTA)	NCBI Sequence Viewer
	XP_047274689	(Get FASTA)	NCBI Sequence Viewer
	XP_047274690	(Get FASTA)	NCBI Sequence Viewer
	XP_054211326	(Get FASTA)	NCBI Sequence Viewer
	XP_054211327	(Get FASTA)	NCBI Sequence Viewer
	XP_054211328	(Get FASTA)	NCBI Sequence Viewer
	XP_054211329	(Get FASTA)	NCBI Sequence Viewer
	XP_054211330	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAC50064	(Get FASTA)	NCBI Sequence Viewer
	AAI46647	(Get FASTA)	NCBI Sequence Viewer
	BAA05385	(Get FASTA)	NCBI Sequence Viewer
	BAD92976	(Get FASTA)	NCBI Sequence Viewer
	CBX47635	(Get FASTA)	NCBI Sequence Viewer
	EAX03744	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000363435.4
	ENSP00000475177
	ENSP00000475177.1
GenBank Protein	Q14573	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_002215 ⟸ NM_002224

- UniProtKB:

Q14649 (UniProtKB/Swiss-Prot), Q5TAQ2 (UniProtKB/Swiss-Prot), Q14573 (UniProtKB/Swiss-Prot), Q59ES2 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MSEMSSFLHIGDIVSLYAEGSVNGFISTLGLVDDRCVVEPAAGDLDNPPKKFRDCLFKVCPMNR
YSAQKQYWKAKQTKQDKEKIADVVLLQKLQHAAQMEQKQNDTENKKVHGDVVKYGSVIQLLHMK
SNKYLTVNKRLPALLEKNAMRVTLDATGNEGSWLFIQPFWKLRSNGDNVVVGDKVILNPVNAGQ
PLHASNYELSDNAGCKEVNSVNCNTSWKINLFMQFRDHLEEVLKGGDVVRLFHAEQEKFLTCDE
YKGKLQVFLRTTLRQSATSATSSNALWEVEVVHHDPCRGGAGHWNGLYRFKHLATGNYLAAEEN
PSYKGDASDPKAAGMGAQGRTGRRNAGEKIKYCLVAVPHGNDIASLFELDPTTLQKTDSFVPRN
SYVRLRHLCTNTWIQSTNVPIDIEEERPIRLMLGTCPTKEDKEAFAIVSVPVSEIRDLDFANDA
SSMLASAVEKLNEGFISQNDRRFVIQLLEDLVFFVSDVPNNGQNVLDIMVTKPNRERQKLMREQ
NILKQVFGILKAPFREKGGEGPLVRLEELSDQKNAPYQHMFRLCYRVLRHSQEDYRKNQEHIAK
QFGMMQSQIGYDILAEDTITALLHNNRKLLEKHITKTEVETFVSLVRKNREPRFLDYLSDLCVS
NHIAIPVTQELICKCVLDPKNSDILIRTELRPVKEMAQSHEYLSIEYSEEEVWLTWTDKNNEHH
EKSVRQLAQEARAGNAHDENVLSYYRYQLKLFARMCLDRQYLAIDEISQQLGVDLIFLCMADEM
LPFDLRASFCHLMLHVHVDRDPQELVTPVKFARLWTEIPTAITIKDYDSNLNASRDDKKNKFAN
TMEFVEDYLNNVVSEAVPFANEEKNKLTFEVVSLAHNLIYFGFYSFSELLRLTRTLLGIIDCVQ
GPPAMLQAYEDPGGKNVRRSIQGVGHMMSTMVLSRKQSVFSAPSLSAGASAAEPLDRSKFEENE
DIVVMETKLKILEILQFILNVRLDYRISYLLSVFKKEFVEVFPMQDSGADGTAPAFDSTTANMN
LDRIGEQAEAMFGVGKTSSMLEVDDEGGRMFLRVLIHLTMHDYAPLVSGALQLLFKHFSQRQEA
MHTFKQVQLLISAQDVENYKVIKSELDRLRTMVEKSELWVDKKGSGKGEEVEAGAAKDKKERPT
DEEGFLHPPGEKSSENYQIVKGILERLNKMCGVGEQMRKKQQRLLKNMDAHKVMLDLLQIPYDK
GDAKMMEILRYTHQFLQKFCAGNPGNQALLHKHLHLFLTPGLLEAETMQHIFLNNYQLCSEISE
PVLQHFVHLLATHGRHVQYLDFLHTVIKAEGKYVKKCQDMIMTELTNAGDDVVVFYNDKASLAH
LLDMMKAARDGVEDHSPLMYHISLVDLLAACAEGKNVYTEIKCTSLLPLEDVVSVVTHEDCITE
VKMAYVNFVNHCYVDTEVEMKEIYTSNHIWTLFENFTLDMARVCSKREKRVADPTLEKYVLSVV
LDTINAFFSSPFSENSTSLQTHQTIVVQLLQSTTRLLECPWLQQQHKGSVEACIRTLAMVAKGR
AILLPMDLDAHISSMLSSGASCAAAAQRNASSYKATTRAFPRVTPTANQWDYKNIIEKLQDIIT
ALEERLKPLVQAELSVLVDVLHWPELLFLEGSEAYQRCESGGFLSKLIQHTKDLMESEEKLCIK
VLRTLQQMLLKKTKYGDRGNQLRKMLLQNYLQNRKSTSRGDLPDPIGTGLDPDWSAIAATQCRL
DKEGATKLVCDLITSTKNEKIFQESIGLAIHLLDGGNTEIQKSFHNLMMSDKKSERFFKVLHDR
MKRAQQETKSTVAVNMNDLGSQPHEDREPVDPTTKGRVASFSIPGSSSRYSLGPSLRRGHEVSE
RVQSSEMGTSVLIMQPILRFLQLLCENHNRDLQNFLRCQNNKTNYNLVCETLQFLDIMCGSTTG
GLGLLGLYINEDNVGLVIQTLETLTEYCQGPCHENQTCIVTHESNGIDIITALILNDISPLCKY
RMDLVLQLKDNASKLLLALMESRHDSENAERILISLRPQELVDVIKKAYLQEEERENSEVSPRE
VGHNIYILALQLSRHNKQLQHLLKPVKRIQEEEAEGISSMLSLNNKQLSQMLKSSAPAQEEEED
PLAYYENHTSQIEIVRQDRSMEQIVFPVPGICQFLTEETKHRLFTTTEQDEQGSKVSDFFDQSS
FLHNEMEWQRKLRSMPLIYWFSRRMTLWGSISFNLAVFINIIIAFFYPYMEGASTGVLDSPLIS
LLFWILICFSIAALFTKRYSIRPLIVALILRSIYYLGIGPTLNILGALNLTNKIVFVVSFVGNR
GTFIRGYKAMVMDMEFLYHVGYILTSVLGLFAHELFYSILLFDLIYREETLFNVIKSVTRNGRS
ILLTALLALILVYLFSIVGFLFLKDDFILEVDRLPNNHSTASPLGMPHGAAAFVDTCSGDKMDC
VSGLSVPEVLEEDRELDSTERACDTLLMCIVTVMNHGLRNGGGVGDILRKPSKDESLFPARVVY
DLLFFFIVIIIVLNLIFGVIIDTFADLRSEKQKKEEILKTTCFICGLERDKFDNKTVSFEEHIK
LEHNMWNYLYFIVLVRVKNKTDYTGPESYVAQMIKNKNLDWFPRMRAMSLVSNEGEGEQNEIRI
LQDKLNSTMKLVSHLTAQLNELKEQMTEQRKRRQRLGFVDVQNCISR

hide sequence

RefSeq Acc Id:	XP_011512879 ⟸ XM_011514577
- Peptide Label:	isoform X1
- UniProtKB:	Q59ES2 (UniProtKB/TrEMBL)
- Sequence:	show sequence MNRYSAQKQYWKAKQTKQDKEKIADVVLLQKLQHAAQMEQKQNDTENKKVHGDVVKYGSVIQLL HMKSNKYLTVNKRLPALLEKNAMRVTLDATGNEGSWLFIQPFWKLRSNGDNVVVGDKVILNPVN AGQPLHASNYELSDNAGCKEVNSVNCNTSWKINLFMQFRDHLEEVLKGGDVVRLFHAEQEKFLT CDEYKGKLQVFLRTTLRQSATSATSSNALWEVEVVHHDPCRGGAGHWNGLYRFKHLATGNYLAA EENPSYKGDASDPKAAGMGAQGRTGRRNAGEKIKYCLVAVPHGNDIASLFELDPTTLQKTDSFV PRNSYVRLRHLCTNTWIQSTNVPIDIEEERPIRLMLGTCPTKEDKEAFAIVSVPVSEIRDLDFA NDASSMLASAVEKLNEGFISQNDRRFVIQLLEDLVFFVSDVPNNGQNVLDIMVTKPNRERQKLM REQNILKQVFGILKAPFREKGGEGPLVRLEELSDQKNAPYQHMFRLCYRVLRHSQEDYRKNQEH IAKQFGMMQSQIGYDILAEDTITALLHNNRKLLEKHITKTEVETFVSLVRKNREPRFLDYLSDL CVSNHIAIPVTQELICKCVLDPKNSDILIRTELRPVKEMAQSHEYLSIEYSEEEVWLTWTDKNN EHHEKSVRQLAQEARAGNAHDENVLSYYRYQLKLFARMCLDRQYLAIDEISQQLGVDLIFLCMA DEMLPFDLRASFCHLMLHVHVDRDPQELVTPVKFARLWTEIPTAITIKDYDSNLNASRDDKKNK FANTMEFVEDYLNNVVSEAVPFANEEKNKLTFEVVSLAHNLIYFGFYSFSELLRLTRTLLGIID CVQGPPAMLQAYEDPGGKNVRRSIQGVGHMMSTMVLSRKQSVFSAPSLSAGASAAEPLDRSKFE ENEDIVVMETKLKILEILQFILNVRLDYRISYLLSVFKKEFVEVFPMQDSGADGTAPAFDSTTA NMNLDRIGEQAEAMFGVGKTSSMLEVDDEGGRMFLRVLIHLTMHDYAPLVSGALQLLFKHFSQR QEAMHTFKQVQLLISAQDVENYKVIKSELDRLRTMVEKSELWVDKKGSGKGEEVEAGAAKDKKE RPTDEEGFLHPPGEKSSENYQIVKGILERLNKMCGVGEQMRKKQQRLLKNMDAHKVMLDLLQIP YDKGDAKMMEILRYTHQFLQKFCAGNPGNQALLHKHLHLFLTPGLLEAETMQHIFLNNYQLCSE ISEPVLQHFVHLLATHGRHVQYLDFLHTVIKAEGKYVKKCQDMIMTELTNAGDDVVVFYNDKAS LAHLLDMMKAARDGVEDHSPLMYHISLVDLLAACAEGKNVYTEIKCTSLLPLEDVVSVVTHEDC ITEVKMAYVNFVNHCYVDTEVEMKEIYTSNHIWTLFENFTLDMARVCSKREKRVADPTLEKYVL SVVLDTINAFFSSPFSENSTSLQTHQTIVVQLLQSTTRLLECPWLQQQHKGSVEACIRTLAMVA KGRAILLPMDLDAHISSMLSSGASCAAAAQRNASSYKATTRAFPRVTPTANQWDYKNIIEKLQD IITALEERLKPLVQAELSVLVDVLHWPELLFLEGSEAYQRCESGGFLSKLIQHTKDLMESEEKL CIKVLRTLQQMLLKKTKYGDRGNQLRKMLLQNYLQNRKSTSRGDLPDPIGTGLDPDWSAIAATQ CRLDKEGATKLVCDLITSTKNEKIFQESIGLAIHLLDGGNTEIQKSFHNLMMSDKKSERFFKVL HDRMKRAQQETKSTVAVNMNDLGSQPHEDREPVDPTTKGRVASFSIPGSSSRYSLGPSLRRGHE VSERVQSSEMGTSVLIMQPILRFLQLLCENHNRDLQNFLRCQNNKTNYNLVCETLQFLDIMCGS TTGGLGLLGLYINEDNVGLVIQTLETLTEYCQGPCHENQTCIVTHESNGIDIITALILNDISPL CKYRMDLVLQLKDNASKLLLALMESRHDSENAERILISLRPQELVDVIKKAYLQEEERENSEVS PREVGHNIYILALQLSRHNKQLQHLLKPVKRIQEEEAEGISSMLSLNNKQLSQMLKSSAPAQEE EEDPLAYYENHTSQIEIVRQDRSMEQIVFPVPGICQFLTEETKHRLFTTTEQDEQGSKVSDFFD QSSFLHNEMEWQRKLRSMPLIYWFSRRMTLWGSISFNLAVFINIIIAFFYPYMEGASTGVLDSP LISLLFWILICFSIAALFTKRYSIRPLIVALILRSIYYLGIGPTLNILGALNLTNKIVFVVSFV GNRGTFIRGYKAMVMDMEFLYHVGYILTSVLGLFAHELFYSILLFDLIYREETLFNVIKSVTRN GRSILLTALLALILVYLFSIVGFLFLKDDFILEVDRLPNNHSTASPLGMPHGAAAFVDTCSGDK MDCVSGLSVPEVLEEDRELDSTERACDTLLMCIVTVMNHGLRNGGGVGDILRKPSKDESLFPAR VVYDLLFFFIVIIIVLNLIFGVIIDTFADLRSEKQKKEEILKTTCFICGLERDKFDNKTVSFEE HIKLEHNMWNYLYFIVLVRVKNKTDYTGPESYVAQMIKNKNLDWFPRMRAMSLVSNEGEGEQNE IRILQDKLNSTMKLVSHLTAQLNELKEQMTEQRKRRQRLGFVDVQNCISR hide sequence

RefSeq Acc Id:

XP_016866321 ⟸ XM_017010832

- Peptide Label:

isoform X3

- Sequence:

show sequence

MSEMSSFLHIGDIVSLYAEGSVNGFISTLGLVDDRCVVEPAAGDLDNPPKKFRDCLFKVCPMNR
YSAQKQYWKAKQTKQDKEKIADVVLLQKLQHAAQMEQKQNDTENKKVHGDVVKYGSVIQLLHMK
SNKYLTVNKRLPALLEKNAMRVTLDATGNEGSWLFIQPFWKLRSNGDNVVVGDKVILNPVNAGQ
PLHASNYELSDNAGCKEVNSVNCNTSWKINLFMQFRDHLEEVLKGGDVVRLFHAEQEKFLTCDE
YKGKLQVFLRTTLRQSATSATSSNALWEVEVVHHDPCRGGAGHWNGLYRFKHLATGNYLAAEEN
PSYKGDASDPKAAGMGAQGRTGRRNAGEKIKYCLVAVPHGNDIASLFELDPTTLQKTDSFVPRN
SYVRLRHLCTNTWIQSTNVPIDIEEERPIRLMLGTCPTKEDKEAFAIVSVPVSEIRDLDFANDA
SSMLASAVEKLNEGFISQNDRRFVIQLLEDLVFFVSDVPNNGQNVLDIMVTKPNRERQKLMREQ
NILKQVFGILKAPFREKGGEGPLVRLEELSDQKNAPYQHMFRLCYRVLRHSQEDYRKNQEHIAK
QFGMMQSQIGYDILAEDTITALLHNNRKLLEKHITKTEVETFVSLVRKNREPRFLDYLSDLCVS
NHIAIPVTQELICKCVLDPKNSDILIRTELRPVKEMAQSHEYLSIEYSEEEVWLTWTDKNNEHH
EKSVRQLAQEARAGNAHDENVLSYYRYQLKLFARMCLDRQYLAIDEISQQLGVDLIFLCMADEM
LPFDLRASFCHLMLHVHVDRDPQELVTPVKFARLWTEIPTAITIKDYDSNLNASRDDKKNKFAN
TMEFVEDYLNNVVSEAVPFANEEKNKLTFEVVSLAHNLIYFGFYSFSELLRLTRTLLGIIDCVQ
GPPAMLQAYEDPGGKNVRRSIQGVGHMMSTMVLSRKQSVFSAPSLSAGASAAEPLDRSKFEENE
DIVVMETKLKILEILQFILNVRLDYRISYLLSVFKKEFVEVFPMQDSGADGTAPAFDSTTANMN
LDRIGEQAEAMFGVGKTSSMLEVDDEGGRMFLRVLIHLTMHDYAPLVSGALQLLFKHFSQRQEA
MHTFKQVQLLISAQDVENYKVIKSELDRLRTMVEKSELWVDKKGSGKGEEVEAGAAKDKKERPT
DEEGFLHPPGEKSSENYQIVKGILERLNKMCGVGEQMRKKQQRLLKNMDAHKVMLDLLQIPYDK
GDAKMMEILRYTHQFLQKFCAGNPGNQALLHKHLHLFLTPGLLEAETMQHIFLNNYQLCSEISE
PVLQHFVHLLATHGRHVQYLDFLHTVIKAEGN

hide sequence

Ensembl Acc Id:

ENSP00000363435 ⟸ ENST00000374316

Ensembl Acc Id:

ENSP00000475177 ⟸ ENST00000605930

RefSeq Acc Id:	XP_047274687 ⟸ XM_047418731
- Peptide Label:	isoform X2
- UniProtKB:	Q14649 (UniProtKB/Swiss-Prot), Q14573 (UniProtKB/Swiss-Prot), Q5TAQ2 (UniProtKB/Swiss-Prot), Q59ES2 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047274688 ⟸ XM_047418732
- Peptide Label:	isoform X1
- UniProtKB:	Q59ES2 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047274690 ⟸ XM_047418734
- Peptide Label:	isoform X1
- UniProtKB:	Q59ES2 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047274689 ⟸ XM_047418733
- Peptide Label:	isoform X1
- UniProtKB:	Q59ES2 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054211326 ⟸ XM_054355351
- Peptide Label:	isoform X4
- UniProtKB:	Q59ES2 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054211330 ⟸ XM_054355355
- Peptide Label:	isoform X5

RefSeq Acc Id:	XP_054211327 ⟸ XM_054355352
- Peptide Label:	isoform X1
- UniProtKB:	Q59ES2 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054211328 ⟸ XM_054355353
- Peptide Label:	isoform X1
- UniProtKB:	Q59ES2 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054211329 ⟸ XM_054355354
- Peptide Label:	isoform X1
- UniProtKB:	Q59ES2 (UniProtKB/TrEMBL)

Protein Domains

Ion transport MIR RIH RyR/IP3R Homology associated

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q14573-F1-model_v2	AlphaFold	Q14573	1-2671	view protein structure

Promoters

RGD ID:

6872900

Promoter ID:

EPDNEW_H9615

Type:

initiation region

Name:

ITPR3_1

Description:

inositol 1,4,5-trisphosphate receptor type 3

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	33,621,335 - 33,621,395	EPDNEW

RGD ID:

6804379

Promoter ID:

HG_KWN:53219

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

NM_002224, OTTHUMT00000040204

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	33,695,976 - 33,697,077 (+)	MPROMDB

RGD ID:

6804377

Promoter ID:

HG_KWN:53221

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3

Transcripts:

UC003OEY.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	33,761,186 - 33,761,686 (+)	MPROMDB

RGD ID:

6813003

Promoter ID:

HG_ACW:68036

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3

Transcripts:

ITPR3.DAPR07

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	33,762,886 - 33,763,386 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:6182	AgrOrtholog
COSMIC	ITPR3	COSMIC
Ensembl Genes	ENSG00000096433	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000374316.9	UniProtKB/Swiss-Prot
	ENST00000605930	ENTREZGENE
	ENST00000605930.3	UniProtKB/Swiss-Prot
Gene3D-CATH	1.10.287.70	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	2.80.10.50	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	IP3 receptor type 1 binding core, RIH domain	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000096433	GTEx
HGNC ID	HGNC:6182	ENTREZGENE
Human Proteome Map	ITPR3	Human Proteome Map
InterPro	Ins145_P3_rcpt	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	InsP3_rcpt	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ion_trans_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	MIR_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	MIR_motif	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RIH_assoc-dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RIH_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ryanodine_IP3_receptor	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RyR/IP3R_RIH_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:3710	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	3710	ENTREZGENE
OMIM	147267	OMIM
PANTHER	INOSITOL 1,4,5-TRISPHOSPHATE RECEPTOR TYPE 3	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	INOSITOL 1,4,5-TRISPHOSPHATE RECEPTOR TYPE 3	UniProtKB/TrEMBL
	MIR DOMAIN-CONTAINING PROTEIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RYANODINE RECEPTOR AND IP3 RECEPTOR	UniProtKB/TrEMBL
Pfam	Ins145_P3_rec	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ion_trans	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	MIR	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RIH_assoc	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RYDR_ITPR	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA29980	PharmGKB
PRINTS	INSP3RECEPTR	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	MIR	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	MIR	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF100909	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF82109	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A6H8K3_HUMAN	UniProtKB/TrEMBL
	ITPR3_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q14649	ENTREZGENE
	Q59ES2	ENTREZGENE, UniProtKB/TrEMBL
	Q5TAQ2	ENTREZGENE
UniProt Secondary	Q14649	UniProtKB/Swiss-Prot
	Q5TAQ2	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2022-04-14	ITPR3	inositol 1,4,5-trisphosphate receptor type 3	LOC105375023	uncharacterized LOC105375023	Data merged from RGD:38611538	737654	PROVISIONAL
2016-02-10	ITPR3	inositol 1,4,5-trisphosphate receptor type 3	ITPR3	inositol 1,4,5-trisphosphate receptor, type 3	Symbol and/or name change	5135510	APPROVED
2011-07-27	ITPR3	inositol 1,4,5-trisphosphate receptor, type 3	ITPR3	inositol 1,4,5-triphosphate receptor, type 3	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

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

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar