NFATC1 (nuclear factor of activated T cells 1) - Rat Genome Database

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Gene: NFATC1 (nuclear factor of activated T cells 1) Homo sapiens
Analyze
Symbol: NFATC1
Name: nuclear factor of activated T cells 1
RGD ID: 1346235
HGNC Page HGNC:7775
Description: Enables sequence-specific double-stranded DNA binding activity. Involved in calcineurin-NFAT signaling cascade; negative regulation of vascular associated smooth muscle cell differentiation; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within intracellular signal transduction and positive regulation of DNA-templated transcription. Located in nuclear body. Part of chromatin. Implicated in congenital heart disease and ventricular septal defect. Biomarker of aortic valve stenosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: MGC138448; NF-ATC; NF-ATc1; NF-ATc1.2; NFAT transcription complex cytosolic component; NFAT2; NFATc; nuclear factor of activated T-cells 'c'; nuclear factor of activated T-cells 1; nuclear factor of activated T-cells, cytoplasmic 1; nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381879,395,930 - 79,529,323 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1879,395,856 - 79,529,325 (+)EnsemblGRCh38hg38GRCh38
GRCh371877,155,930 - 77,289,323 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361875,256,760 - 75,390,311 (+)NCBINCBI36Build 36hg18NCBI36
Build 341875,256,759 - 75,329,165NCBI
Celera1873,929,368 - 74,061,687 (+)NCBICelera
Cytogenetic Map18q23NCBI
HuRef1873,783,058 - 73,914,637 (+)NCBIHuRef
CHM1_11877,150,992 - 77,284,501 (+)NCBICHM1_1
T2T-CHM13v2.01879,649,928 - 79,782,943 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-matairesinol  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-aminopurine  (ISO)
2-tert-butylhydroquinone  (ISO)
3'-O-(4-Benzoyl)benzoyl ATP  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-amino-5-chloro-N-[1-[3-(4-fluorophenoxy)propyl]-3-methoxy-4-piperidinyl]-2-methoxybenzamide  (ISO)
4-hydroxynon-2-enal  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-azacytidine  (EXP)
8-bromo-3',5'-cyclic GMP  (ISO)
9-phenanthrol  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
Alisol B  (ISO)
all-trans-retinoic acid  (ISO)
alpha-naphthoflavone  (EXP)
apocynin  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (ISO)
ATP  (ISO)
atrazine  (ISO)
azetidine  (ISO)
benzamide  (ISO)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
benzyl isothiocyanate  (ISO)
bisphenol A  (EXP,ISO)
buta-1,3-diene  (ISO)
cadmium atom  (ISO)
Calcimycin  (EXP,ISO)
carbon nanotube  (ISO)
chlordecone  (ISO)
chlorpromazine  (ISO)
choline  (ISO)
chromium(3+) trichloride  (ISO)
chrysene  (ISO)
cisapride  (ISO)
cisplatin  (EXP)
cobalt dichloride  (ISO)
coenzyme Q10  (ISO)
copper(II) sulfate  (EXP)
corilagin  (ISO)
CU-O LINKAGE  (EXP)
cyclosporin A  (EXP,ISO)
decabromodiphenyl ether  (ISO)
deoxynivalenol  (EXP,ISO)
diarsenic trioxide  (ISO)
dibenziodolium  (EXP)
diosmetin  (ISO)
dioxygen  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
ellagic acid  (ISO)
entinostat  (EXP)
ethanol  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
formononetin  (ISO)
FR900359  (EXP)
fulvestrant  (EXP)
genistein  (ISO)
ginsenoside Rb1  (ISO)
glyburide  (ISO)
harmine  (EXP)
hydrogen peroxide  (ISO)
hydroxychloroquine  (EXP)
hypoxanthine  (ISO)
inulin  (ISO)
ionomycin  (ISO)
isoprenaline  (ISO)
KN-93  (ISO)
L-methionine  (ISO)
lead(0)  (ISO)
Licochalcone B  (EXP)
lipopolysaccharide  (EXP,ISO)
methapyrilene  (EXP)
methoxychlor  (ISO)
methylglyoxal  (ISO)
Morroniside  (ISO)
N-acetyl-L-cysteine  (ISO)
niclosamide  (EXP,ISO)
ochratoxin A  (EXP)
oxaliplatin  (ISO)
p-menthan-3-ol  (EXP)
paracetamol  (ISO)
perfluorohexanesulfonic acid  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
phenylephrine  (ISO)
phloretin  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
platycodin D  (ISO)
quercetin  (ISO)
raloxifene  (EXP)
resveratrol  (EXP)
Ro 41-5253  (ISO)
rotenone  (EXP)
ruxolitinib  (EXP)
Sanggenon C  (ISO)
SB 203580  (ISO)
SB 431542  (EXP)
sclareol  (ISO)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
SKF-96365 hydrochloride  (ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
streptozocin  (ISO)
tamoxifen  (EXP,ISO)
tert-butyl hydroperoxide  (EXP)
tetraphene  (ISO)
thapsigargin  (EXP)
thymol  (ISO)
thymol sulfate(1-)  (ISO)
tofacitinib  (EXP)
topotecan  (ISO)
tributylstannane  (ISO)
Tributyltin oxide  (EXP,ISO)
trimellitic anhydride  (ISO)
triphenylstannane  (ISO)
troglitazone  (ISO)
trovafloxacin  (ISO)
tungsten  (ISO)
valproic acid  (EXP)
xanthohumol  (ISO)
zinc atom  (EXP)
zinc sulfate  (ISO)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
aortic valve development  (ISO)
aortic valve morphogenesis  (ISS)
B-1a B cell differentiation  (ISO)
branching involved in lymph vessel morphogenesis  (ISO)
calcineurin-NFAT signaling cascade  (IBA,IDA,IEA,ISO)
calcium ion transport  (ISO)
cellular response to calcium ion  (ISO)
cellular response to transforming growth factor beta stimulus  (IEA,ISO)
cellular response to tumor necrosis factor  (IEA,ISO)
endocardial cushion development  (ISO)
epithelial to mesenchymal transition  (ISO)
G1/S transition of mitotic cell cycle  (ISO)
gene expression  (ISO)
heart development  (ISO)
heart trabecula morphogenesis  (ISO)
heart valve development  (ISO)
heart valve morphogenesis  (ISO)
intracellular signal transduction  (IDA)
keratinocyte proliferation  (ISO)
lymphangiogenesis  (ISO)
mononuclear cell differentiation  (IEA,ISO)
negative regulation of keratinocyte proliferation  (ISO)
negative regulation of osteoblast differentiation  (ISO)
negative regulation of stem cell proliferation  (ISO)
negative regulation of transcription by RNA polymerase II  (ISO)
negative regulation of vascular associated smooth muscle cell differentiation  (IDA)
osteoclast differentiation  (ISO)
positive regulation of DNA biosynthetic process  (IEA,ISO)
positive regulation of DNA-templated transcription  (IDA)
positive regulation of gene expression  (ISO)
positive regulation of transcription by RNA polymerase II  (IDA,IEA,IGI,ISO,ISS)
pulmonary valve development  (ISO)
pulmonary valve morphogenesis  (ISS)
regulation of DNA-templated transcription  (IEA)
regulation of hair cycle  (ISO)
regulation of transcription by RNA polymerase II  (IBA,IEA)
response to muscle activity  (IEA,ISO)
semi-lunar valve development  (ISO)
skeletal muscle adaptation  (IEA,ISO)
stem cell proliferation  (ISO)
transcription by RNA polymerase II  (ISO)
transition between fast and slow fiber  (ISO)
ventricular septum morphogenesis  (ISO)
wound healing  (IEA,ISO)

Cellular Component
chromatin  (IDA,ISA)
cytoplasm  (IEA,ISO,ISS,TAS)
cytosol  (TAS)
nuclear body  (IDA)
nucleoplasm  (IDA,TAS)
nucleus  (IDA,IEA,ISO)
perinuclear region of cytoplasm  (IEA,ISO)
sarcoplasm  (IEA,ISO)
transcription regulator complex  (IBA,IEA)

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

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Inhibition of calcineurin/NFAT pathway plays an essential role in renoprotective effect of tropisetron in early stage of diabetic nephropathy. Barzegar-Fallah A, etal., Eur J Pharmacol. 2015 Nov 15;767:152-9. doi: 10.1016/j.ejphar.2015.10.019. Epub 2015 Oct 21.
2. Upregulation of nuclear factor of activated T-cells by nerve injury contributes to development of neuropathic pain. Cai YQ, etal., J Pharmacol Exp Ther. 2013 Apr;345(1):161-8. doi: 10.1124/jpet.112.202192. Epub 2013 Feb 5.
3. Dihydroartemisinin attenuates osteoclast formation and bone resorption via inhibiting the NF‑κB, MAPK and NFATc1 signaling pathways and alleviates osteoarthritis. Ding D, etal., Int J Mol Med. 2022 Jan;49(1):4. doi: 10.3892/ijmm.2021.5059. Epub 2021 Nov 5.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Association of a tandem repeat polymorphism in NFATc1 with increased risk of perimembranous ventricular septal defect in a Chinese population. Gu H, etal., Biochem Genet. 2011 Oct;49(9-10):592-600. doi: 10.1007/s10528-011-9434-8. Epub 2011 Apr 17.
6. Water extract of Cnidii Rhizoma suppresses RANKL-induced osteoclastogenesis in RAW 264.7 cell by inhibiting NFATc1/c-Fos signaling and prevents ovariectomized bone loss in SD-rat. Lee KY, etal., BMC Complement Altern Med. 2019 Aug 9;19(1):207. doi: 10.1186/s12906-019-2611-8.
7. Correlation between NFATC1 gene polymorphisms and congenital heart disease in children. Li CL, etal., Eur Rev Med Pharmacol Sci. 2017 Aug;21(15):3441-3446.
8. Recombinant human erythropoietin pretreatment alleviates renal glomerular injury induced by cardiopulmonary bypass by reducing transient receptor potential channel 6-nuclear factor of activated T-cells pathway activation. Liu X, etal., J Thorac Cardiovasc Surg. 2013 Mar 24. pii: S0022-5223(13)00274-2. doi: 10.1016/j.jtcvs.2013.02.076.
9. PIAS1 Alleviates Hepatic Ischemia-Reperfusion Injury in Mice through a Mechanism Involving NFATc1 SUMOylation. Luo J, etal., Dis Markers. 2022 Aug 31;2022:4988539. doi: 10.1155/2022/4988539. eCollection 2022.
10. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
11. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
12. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
13. Association of NFATc1 gene polymorphism with ventricular septal defect in the Chinese Han population. Shen L, etal., Chin Med J (Engl). 2013 Jan;126(1):78-81.
14. [Histopathologic features of degenerative aortic valve and its mechanisms]. Sun J, etal., Zhonghua Yi Xue Za Zhi. 2013 Jan 22;93(4):280-4.
Additional References at PubMed
PMID:1497875   PMID:7842733   PMID:7957556   PMID:7999066   PMID:8202141   PMID:8702849   PMID:8814265   PMID:8990122   PMID:9072970   PMID:9075924   PMID:9143705   PMID:9506523  
PMID:9845362   PMID:10072078   PMID:10089876   PMID:10358178   PMID:10618429   PMID:10623828   PMID:10652349   PMID:10748182   PMID:10821850   PMID:11222731   PMID:11448168   PMID:11823475  
PMID:11877454   PMID:11897999   PMID:11911478   PMID:11956293   PMID:12021260   PMID:12080349   PMID:12183075   PMID:12351631   PMID:12355451   PMID:12370307   PMID:12408978   PMID:12427739  
PMID:12469121   PMID:12477932   PMID:12482669   PMID:12521306   PMID:12560487   PMID:12788643   PMID:12850144   PMID:12884293   PMID:14749367   PMID:14979875   PMID:15078178   PMID:15117818  
PMID:15161933   PMID:15229217   PMID:15304486   PMID:15347678   PMID:15466412   PMID:15466861   PMID:15632146   PMID:15790681   PMID:16109714   PMID:16237100   PMID:16260021   PMID:16280328  
PMID:16340127   PMID:16436503   PMID:16473827   PMID:16513293   PMID:16586042   PMID:16690925   PMID:16874304   PMID:16880514   PMID:16931157   PMID:17082665   PMID:17097050   PMID:17110989  
PMID:17237284   PMID:17577925   PMID:17606988   PMID:17674968   PMID:17693409   PMID:17882263   PMID:17922653   PMID:18078995   PMID:18097033   PMID:18097055   PMID:18156209   PMID:18218901  
PMID:18246125   PMID:18288635   PMID:18350607   PMID:18462673   PMID:18667424   PMID:18675896   PMID:18708588   PMID:18772129   PMID:19019468   PMID:19052845   PMID:19204004   PMID:19218564  
PMID:19233265   PMID:19274049   PMID:19351910   PMID:19449179   PMID:19453261   PMID:19460777   PMID:19463978   PMID:19564342   PMID:19801542   PMID:19900447   PMID:19913121   PMID:19914243  
PMID:19950017   PMID:19961855   PMID:20002873   PMID:20237496   PMID:20379146   PMID:20463068   PMID:20628086   PMID:20664054   PMID:20865272   PMID:20925194   PMID:21047202   PMID:21055286  
PMID:21172821   PMID:21220349   PMID:21278340   PMID:21284733   PMID:21298033   PMID:21398617   PMID:21413932   PMID:21490927   PMID:21596928   PMID:21603612   PMID:21873635   PMID:21880741  
PMID:21898543   PMID:22032245   PMID:22045870   PMID:22113269   PMID:22375008   PMID:22422068   PMID:22446626   PMID:22593154   PMID:22613791   PMID:22627363   PMID:22688515   PMID:22709542  
PMID:22722879   PMID:22814600   PMID:22902539   PMID:23221330   PMID:23227982   PMID:23446734   PMID:23468591   PMID:23737530   PMID:23811942   PMID:23832742   PMID:23853098   PMID:23986795  
PMID:24043548   PMID:24187576   PMID:24415751   PMID:24657343   PMID:24903211   PMID:24909327   PMID:24954618   PMID:25122795   PMID:25157100   PMID:25609649   PMID:25631176   PMID:25728138  
PMID:25738651   PMID:25889032   PMID:25889879   PMID:25952151   PMID:25976987   PMID:26042420   PMID:26186194   PMID:26398575   PMID:26477312   PMID:26483414   PMID:26493727   PMID:26501422  
PMID:26527057   PMID:26584734   PMID:26601952   PMID:26644469   PMID:26644563   PMID:26820075   PMID:26921718   PMID:26972000   PMID:26993036   PMID:27350254   PMID:27383627   PMID:27405982  
PMID:27449921   PMID:27482889   PMID:27498064   PMID:27637333   PMID:28188746   PMID:28235034   PMID:28244807   PMID:28473536   PMID:28514442   PMID:28611215   PMID:28632030   PMID:28637314  
PMID:28760926   PMID:28824302   PMID:28970470   PMID:28978472   PMID:29073235   PMID:29129565   PMID:29416540   PMID:29691251   PMID:29844126   PMID:30007050   PMID:30085405   PMID:30516111  
PMID:30832685   PMID:30952432   PMID:31010829   PMID:31022353   PMID:31183372   PMID:31362013   PMID:31400279   PMID:31478836   PMID:31594854   PMID:31666531   PMID:31730483   PMID:31823518  
PMID:31882422   PMID:32183825   PMID:32329053   PMID:32550905   PMID:32581014   PMID:32583512   PMID:32686149   PMID:32771207   PMID:32800850   PMID:32860837   PMID:33023539   PMID:33188139  
PMID:33323975   PMID:33952303   PMID:33961781   PMID:34237654   PMID:34261974   PMID:34309232   PMID:34343639   PMID:34363434   PMID:34597678   PMID:34795676   PMID:34906330   PMID:34991467  
PMID:35013218   PMID:35216266   PMID:35349860   PMID:35544467   PMID:35748872   PMID:35754117   PMID:36129980   PMID:36137995   PMID:36362060   PMID:36538041   PMID:36543142   PMID:36629882  
PMID:36680554   PMID:36688959   PMID:36700213   PMID:36766846   PMID:37248542   PMID:37249233   PMID:37342957   PMID:37347664   PMID:37392543   PMID:37535148   PMID:37758852   PMID:37814550  
PMID:37957146   PMID:38310228  


Genomics

Comparative Map Data
NFATC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381879,395,930 - 79,529,323 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1879,395,856 - 79,529,325 (+)EnsemblGRCh38hg38GRCh38
GRCh371877,155,930 - 77,289,323 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361875,256,760 - 75,390,311 (+)NCBINCBI36Build 36hg18NCBI36
Build 341875,256,759 - 75,329,165NCBI
Celera1873,929,368 - 74,061,687 (+)NCBICelera
Cytogenetic Map18q23NCBI
HuRef1873,783,058 - 73,914,637 (+)NCBIHuRef
CHM1_11877,150,992 - 77,284,501 (+)NCBICHM1_1
T2T-CHM13v2.01879,649,928 - 79,782,943 (+)NCBIT2T-CHM13v2.0
Nfatc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391880,649,418 - 80,756,286 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1880,649,420 - 80,756,286 (-)EnsemblGRCm39 Ensembl
GRCm381880,606,205 - 80,713,071 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1880,606,205 - 80,713,071 (-)EnsemblGRCm38mm10GRCm38
MGSCv371880,802,944 - 80,909,810 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361880,768,264 - 80,875,117 (-)NCBIMGSCv36mm8
Celera1881,715,612 - 81,822,471 (-)NCBICelera
Cytogenetic Map18E3NCBI
cM Map1853.66NCBI
Nfatc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81876,321,386 - 76,430,997 (-)NCBIGRCr8
mRatBN7.21874,046,422 - 74,156,041 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1874,046,904 - 74,156,028 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1876,149,324 - 76,258,603 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01876,818,657 - 76,927,924 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01874,664,215 - 74,773,420 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01877,203,517 - 77,322,690 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1877,203,525 - 77,322,690 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01876,309,900 - 76,426,095 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41877,498,654 - 77,581,231 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1872,704,426 - 72,813,069 (-)NCBICelera
Cytogenetic Map18q12.3NCBI
Nfatc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540262,558,286 - 62,674,457 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540262,558,392 - 62,674,347 (+)NCBIChiLan1.0ChiLan1.0
NFATC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21796,966,431 - 97,102,776 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11882,659,055 - 82,795,399 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01872,948,067 - 73,083,180 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11876,020,443 - 76,133,790 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1876,017,454 - 76,094,453 (+)Ensemblpanpan1.1panPan2
NFATC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.111,027,021 - 1,121,362 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl11,028,695 - 1,121,588 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha12,030,800 - 2,126,866 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01826,991 - 923,076 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1827,017 - 923,153 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11879,585 - 975,578 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01825,423 - 922,065 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01996,485 - 1,092,567 (-)NCBIUU_Cfam_GSD_1.0
Nfatc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494415,162,918 - 15,264,081 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936616484,045 - 587,891 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936616484,062 - 584,950 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NFATC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1145,911,046 - 146,008,139 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11145,940,099 - 146,002,897 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21161,528,147 - 161,632,555 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NFATC1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.118690,313 - 815,804 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl18689,671 - 811,100 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606025,265,195 - 25,449,498 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nfatc1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624806905,174 - 1,022,800 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624806905,487 - 1,022,784 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NFATC1
218 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 18q22.1-23(chr18:64950938-80252149)x1 copy number loss See cases [RCV000050985] Chr18:64950938..80252149 [GRCh38]
Chr18:62618174..78010032 [GRCh37]
Chr18:60769154..76111023 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3 copy number gain See cases [RCV000050989] Chr18:50068129..80252149 [GRCh38]
Chr18:47594499..78010032 [GRCh37]
Chr18:45848497..76111023 [NCBI36]
Chr18:18q21.1-23		 pathogenic
GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1 copy number loss See cases [RCV000051032] Chr18:56618038..80252149 [GRCh38]
Chr18:54285269..78010032 [GRCh37]
Chr18:52436267..76111023 [NCBI36]
Chr18:18q21.31-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q23(chr18:79475881-79766196)x1 copy number loss See cases [RCV000052080] Chr18:79475881..79766196 [GRCh38]
Chr18:77235881..77526196 [GRCh37]
Chr18:75336869..75627184 [NCBI36]
Chr18:18q23		 uncertain significance
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:63195579-80234429)x3 copy number gain See cases [RCV000052572] Chr18:63195579..80234429 [GRCh38]
Chr18:60862812..77992312 [GRCh37]
Chr18:59013792..76093303 [NCBI36]
Chr18:18q21.33-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:64747528-80252290)x3 copy number gain See cases [RCV000052573] Chr18:64747528..80252290 [GRCh38]
Chr18:62414764..78010173 [GRCh37]
Chr18:60565744..76111164 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q22.3-23(chr18:75300296-80252149)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052574]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052574]|See cases [RCV000052574] Chr18:75300296..80252149 [GRCh38]
Chr18:73012251..78010032 [GRCh37]
Chr18:71141239..76111023 [NCBI36]
Chr18:18q22.3-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:53637007-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|See cases [RCV000053869] Chr18:53637007..80252149 [GRCh38]
Chr18:51163377..78010032 [GRCh37]
Chr18:49417375..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1 copy number loss See cases [RCV000053873] Chr18:56353040..80209986 [GRCh38]
Chr18:54020271..77967869 [GRCh37]
Chr18:52171269..76068860 [NCBI36]
Chr18:18q21.31-23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:62999696-80209986)x1 copy number loss See cases [RCV000053875] Chr18:62999696..80209986 [GRCh38]
Chr18:60666929..77967869 [GRCh37]
Chr18:58817909..76068860 [NCBI36]
Chr18:18q21.33-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:63988650-80252149)x1 copy number loss See cases [RCV000053876] Chr18:63988650..80252149 [GRCh38]
Chr18:61655884..78010032 [GRCh37]
Chr18:59806864..76111023 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q22.2-23(chr18:69288245-80252149)x1 copy number loss See cases [RCV000053905] Chr18:69288245..80252149 [GRCh38]
Chr18:66955481..78010032 [GRCh37]
Chr18:65106461..76111023 [NCBI36]
Chr18:18q22.2-23		 pathogenic
GRCh38/hg38 18q23(chr18:75843868-80209986)x1 copy number loss See cases [RCV000053907] Chr18:75843868..80209986 [GRCh38]
Chr18:73555823..77967869 [GRCh37]
Chr18:71684811..76068860 [NCBI36]
Chr18:18q23		 pathogenic
GRCh38/hg38 18q23(chr18:78869005-80252149)x1 copy number loss See cases [RCV000053908] Chr18:78869005..80252149 [GRCh38]
Chr18:76629005..78010032 [GRCh37]
Chr18:74729993..76111023 [NCBI36]
Chr18:18q23		 pathogenic
GRCh38/hg38 18q23(chr18:78892487-80209986)x1 copy number loss See cases [RCV000053909] Chr18:78892487..80209986 [GRCh38]
Chr18:76652487..77967869 [GRCh37]
Chr18:74753475..76068860 [NCBI36]
Chr18:18q23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:51605752-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|See cases [RCV000053834] Chr18:51605752..80252149 [GRCh38]
Chr18:49132122..78010032 [GRCh37]
Chr18:47386120..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
NM_006162.4(NFATC1):c.1307C>T (p.Ser436Phe) single nucleotide variant Malignant melanoma [RCV000071907] Chr18:79433659 [GRCh38]
Chr18:77193659 [GRCh37]
Chr18:75294647 [NCBI36]
Chr18:18q23		 not provided
NM_006162.4(NFATC1):c.1308C>T (p.Ser436=) single nucleotide variant Malignant melanoma [RCV000071908] Chr18:79433660 [GRCh38]
Chr18:77193660 [GRCh37]
Chr18:75294648 [NCBI36]
Chr18:18q23		 not provided
GRCh37/hg19 18q23(chr18:76399247-78015180)x1 copy number loss See cases [RCV000515586] Chr18:76399247..78015180 [GRCh37]
Chr18:18q23		 pathogenic
GRCh37/hg19 18q23(chr18:74241380-78013620)x1 copy number loss See cases [RCV000184081] Chr18:74241380..78013620 [GRCh37]
Chr18:18q23		 pathogenic
GRCh38/hg38 18q22.2-23(chr18:69200589-80252149)x1 copy number loss See cases [RCV000133824] Chr18:69200589..80252149 [GRCh38]
Chr18:66867826..78010032 [GRCh37]
Chr18:65018806..76111023 [NCBI36]
Chr18:18q22.2-23		 pathogenic
GRCh38/hg38 18q23(chr18:77263709-80252149)x1 copy number loss See cases [RCV000133678] Chr18:77263709..80252149 [GRCh38]
Chr18:74975665..78010032 [GRCh37]
Chr18:73104653..76111023 [NCBI36]
Chr18:18q23		 pathogenic
GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1 copy number loss See cases [RCV000133689] Chr18:59567681..80252149 [GRCh38]
Chr18:57234913..78010032 [GRCh37]
Chr18:55385893..76111023 [NCBI36]
Chr18:18q21.32-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q22.3-23(chr18:71067804-80252149)x1 copy number loss See cases [RCV000135818] Chr18:71067804..80252149 [GRCh38]
Chr18:68735040..78010032 [GRCh37]
Chr18:66886020..76111023 [NCBI36]
Chr18:18q22.3-23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:63306200-80252149)x1 copy number loss See cases [RCV000135838] Chr18:63306200..80252149 [GRCh38]
Chr18:60973433..78010032 [GRCh37]
Chr18:59124413..76111023 [NCBI36]
Chr18:18q21.33-23		 pathogenic
GRCh38/hg38 18q22.3-23(chr18:72426712-80252149)x1 copy number loss See cases [RCV000135539] Chr18:72426712..80252149 [GRCh38]
Chr18:70093947..78010032 [GRCh37]
Chr18:68244927..76111023 [NCBI36]
Chr18:18q22.3-23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:61576009-80252149)x1 copy number loss See cases [RCV000135616] Chr18:61576009..80252149 [GRCh38]
Chr18:59243242..78010032 [GRCh37]
Chr18:57394222..76111023 [NCBI36]
Chr18:18q21.33-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1 copy number loss See cases [RCV000135413] Chr18:51190429..80252149 [GRCh38]
Chr18:48716799..78010032 [GRCh37]
Chr18:46970797..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:61827111-80252149)x1 copy number loss See cases [RCV000135567] Chr18:61827111..80252149 [GRCh38]
Chr18:59494344..78010032 [GRCh37]
Chr18:57645324..76111023 [NCBI36]
Chr18:18q21.33-23		 pathogenic|uncertain significance
GRCh38/hg38 18q22.1-23(chr18:67772576-80252149)x1 copy number loss See cases [RCV000136555] Chr18:67772576..80252149 [GRCh38]
Chr18:65439813..78010032 [GRCh37]
Chr18:63590793..76111023 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:68417596-80252149)x1 copy number loss See cases [RCV000136122] Chr18:68417596..80252149 [GRCh38]
Chr18:66084833..78010032 [GRCh37]
Chr18:64235813..76111023 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q23(chr18:75988877-80252149)x1 copy number loss See cases [RCV000136899] Chr18:75988877..80252149 [GRCh38]
Chr18:73700832..78010032 [GRCh37]
Chr18:71829820..76111023 [NCBI36]
Chr18:18q23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:65693588-80252149)x1 copy number loss See cases [RCV000136911] Chr18:65693588..80252149 [GRCh38]
Chr18:63360824..78010032 [GRCh37]
Chr18:61511804..76111023 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 copy number gain See cases [RCV000136890] Chr18:32123105..80252149 [GRCh38]
Chr18:29703068..78010032 [GRCh37]
Chr18:27957066..76111023 [NCBI36]
Chr18:18q12.1-23		 pathogenic
GRCh38/hg38 18q23(chr18:75424051-80224243)x1 copy number loss See cases [RCV000136774] Chr18:75424051..80224243 [GRCh38]
Chr18:73136006..77982126 [GRCh37]
Chr18:71264994..76083117 [NCBI36]
Chr18:18q23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1 copy number loss See cases [RCV000136674] Chr18:53865057..80252149 [GRCh38]
Chr18:51391427..78010032 [GRCh37]
Chr18:49645425..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:68830234-80254946)x1 copy number loss See cases [RCV000137431] Chr18:68830234..80254946 [GRCh38]
Chr18:66497471..78012829 [GRCh37]
Chr18:64648451..76113817 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:65658824-80254946)x1 copy number loss See cases [RCV000137598] Chr18:65658824..80254946 [GRCh38]
Chr18:63326060..78012829 [GRCh37]
Chr18:61477040..76113817 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3 copy number gain See cases [RCV000137342] Chr18:49199411..80254946 [GRCh38]
Chr18:46725781..78012829 [GRCh37]
Chr18:44979779..76113817 [NCBI36]
Chr18:18q21.1-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1 copy number loss See cases [RCV000137375] Chr18:55179364..80254946 [GRCh38]
Chr18:52846595..78012829 [GRCh37]
Chr18:50997593..76113817 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:68563422-80254946)x1 copy number loss See cases [RCV000137379] Chr18:68563422..80254946 [GRCh38]
Chr18:66230659..78012829 [GRCh37]
Chr18:64381639..76113817 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q23(chr18:78507911-80254946)x1 copy number loss See cases [RCV000138149] Chr18:78507911..80254946 [GRCh38]
Chr18:76267911..78012829 [GRCh37]
Chr18:74368899..76113817 [NCBI36]
Chr18:18q23		 uncertain significance
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3 copy number gain See cases [RCV000138034] Chr18:42651392..80254946 [GRCh38]
Chr18:40231357..78012829 [GRCh37]
Chr18:38485355..76113817 [NCBI36]
Chr18:18q12.3-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:66190016-80254946)x1 copy number loss See cases [RCV000137808] Chr18:66190016..80254946 [GRCh38]
Chr18:63857253..78012829 [GRCh37]
Chr18:62008233..76113817 [NCBI36]
Chr18:18q22.1-23		 pathogenic|likely pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23		 pathogenic|conflicting data from submitters
GRCh38/hg38 18q22.1-23(chr18:64747728-80254946)x1 copy number loss See cases [RCV000138707] Chr18:64747728..80254946 [GRCh38]
Chr18:62414964..78012829 [GRCh37]
Chr18:60565944..76113817 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q22.3-23(chr18:73332839-80254946)x3 copy number gain See cases [RCV000138718] Chr18:73332839..80254946 [GRCh38]
Chr18:71000074..78012829 [GRCh37]
Chr18:69151054..76113817 [NCBI36]
Chr18:18q22.3-23		 pathogenic
GRCh38/hg38 18q22.3-23(chr18:73332839-80254946)x1 copy number loss See cases [RCV000138719] Chr18:73332839..80254946 [GRCh38]
Chr18:71000074..78012829 [GRCh37]
Chr18:69151054..76113817 [NCBI36]
Chr18:18q22.3-23		 pathogenic
GRCh38/hg38 18q22.3-23(chr18:72043906-80254936)x1 copy number loss See cases [RCV000138491] Chr18:72043906..80254936 [GRCh38]
Chr18:69711141..78012819 [GRCh37]
Chr18:67862121..76113807 [NCBI36]
Chr18:18q22.3-23		 pathogenic
GRCh38/hg38 18q22.2-23(chr18:69650802-80254946)x1 copy number loss See cases [RCV000138248] Chr18:69650802..80254946 [GRCh38]
Chr18:67318038..78012829 [GRCh37]
Chr18:65469018..76113817 [NCBI36]
Chr18:18q22.2-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:66649227-80254936)x1 copy number loss See cases [RCV000138638] Chr18:66649227..80254936 [GRCh38]
Chr18:64316464..78012819 [GRCh37]
Chr18:62467444..76113807 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q22.3-23(chr18:71872883-80254946)x3 copy number gain See cases [RCV000139457] Chr18:71872883..80254946 [GRCh38]
Chr18:69540119..78012829 [GRCh37]
Chr18:67691099..76113817 [NCBI36]
Chr18:18q22.3-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1 copy number loss See cases [RCV000139134] Chr18:52421052..80254946 [GRCh38]
Chr18:49947422..78012829 [GRCh37]
Chr18:48201420..76113817 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3 copy number gain See cases [RCV000139496] Chr18:53959828..80254936 [GRCh38]
Chr18:51486198..78012819 [GRCh37]
Chr18:49740196..76113807 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.32-23(chr18:59996934-80254946)x1 copy number loss See cases [RCV000139669] Chr18:59996934..80254946 [GRCh38]
Chr18:57664166..78012829 [GRCh37]
Chr18:55815146..76113817 [NCBI36]
Chr18:18q21.32-23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:63756916-80254946)x1 copy number loss See cases [RCV000139464] Chr18:63756916..80254946 [GRCh38]
Chr18:61424150..78012829 [GRCh37]
Chr18:59575130..76113817 [NCBI36]
Chr18:18q21.33-23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:61613338-80252090)x1 copy number loss See cases [RCV000141429] Chr18:61613338..80252090 [GRCh38]
Chr18:59280571..78009973 [GRCh37]
Chr18:57431551..76110964 [NCBI36]
Chr18:18q21.33-23		 pathogenic
GRCh38/hg38 18q23(chr18:75875505-80252090)x1 copy number loss See cases [RCV000141361] Chr18:75875505..80252090 [GRCh38]
Chr18:73587460..78009973 [GRCh37]
Chr18:71716448..76110964 [NCBI36]
Chr18:18q23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:68340002-80256240)x1 copy number loss See cases [RCV000140899] Chr18:68340002..80256240 [GRCh38]
Chr18:66007239..78014123 [GRCh37]
Chr18:64158219..76115097 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1 copy number loss See cases [RCV000140925] Chr18:51167159..80256240 [GRCh38]
Chr18:48693529..78014123 [GRCh37]
Chr18:46947527..76115097 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q23(chr18:75946906-80252149)x1 copy number loss See cases [RCV000142371] Chr18:75946906..80252149 [GRCh38]
Chr18:73658861..78010032 [GRCh37]
Chr18:71787849..76111023 [NCBI36]
Chr18:18q23		 pathogenic
GRCh38/hg38 18q23(chr18:77261157-79635779)x3 copy number gain See cases [RCV000142101] Chr18:77261157..79635779 [GRCh38]
Chr18:74973113..77395779 [GRCh37]
Chr18:73102101..75496767 [NCBI36]
Chr18:18q23		 uncertain significance
GRCh38/hg38 18q22.1-23(chr18:66456349-80256240)x1 copy number loss See cases [RCV000142176] Chr18:66456349..80256240 [GRCh38]
Chr18:64123586..78014123 [GRCh37]
Chr18:62274566..76115097 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3 copy number gain See cases [RCV000142227] Chr18:40367455..80256240 [GRCh38]
Chr18:37947419..78014123 [GRCh37]
Chr18:36201417..76115097 [NCBI36]
Chr18:18q12.3-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:67686362-80252149)x3 copy number gain See cases [RCV000142689] Chr18:67686362..80252149 [GRCh38]
Chr18:65353599..78010032 [GRCh37]
Chr18:63504579..76111023 [NCBI36]
Chr18:18q22.1-23		 pathogenic|likely pathogenic
GRCh38/hg38 18q23(chr18:76635470-80252149)x1 copy number loss See cases [RCV000142580] Chr18:76635470..80252149 [GRCh38]
Chr18:74347427..78010032 [GRCh37]
Chr18:72476415..76111023 [NCBI36]
Chr18:18q23		 pathogenic
GRCh38/hg38 18q22.3-23(chr18:72639340-80254946)x1 copy number loss See cases [RCV000143196] Chr18:72639340..80254946 [GRCh38]
Chr18:70306575..78012829 [GRCh37]
Chr18:68457555..76113817 [NCBI36]
Chr18:18q22.3-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:68857904-80256240)x1 copy number loss See cases [RCV000143557] Chr18:68857904..80256240 [GRCh38]
Chr18:66525141..78014123 [GRCh37]
Chr18:64676121..76115097 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NC_000018.9:g.76854774_78077248del1222475 deletion Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome [RCV000239696] Chr18:76854774..78077248 [GRCh37]
Chr18:18q23		 pathogenic
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23		 pathogenic
GRCh37/hg19 18q21.32-23(chr18:58525322-78005236)x3 copy number gain See cases [RCV000240296] Chr18:58525322..78005236 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:71078132-78005236)x3 copy number gain See cases [RCV000240461] Chr18:71078132..78005236 [GRCh37]
Chr18:18q22.3-23		 pathogenic
NC_000018.9:g.73376178_78077248del4701071 copy number loss Burn-McKeown syndrome [RCV000239622] Chr18:73376178..78077248 [GRCh37] pathogenic
NC_000018.9:g.76841645_78077248del1235604 copy number loss Burn-McKeown syndrome [RCV000239653] Chr18:76841645..78077248 [GRCh37] pathogenic
NC_000018.9:g.76854774_78077248del1222475 copy number loss Burn-McKeown syndrome [RCV000239696] Chr18:76854774..78077248 [GRCh37] pathogenic
NC_000018.9:g.76841645_78077248del1235604 deletion Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome [RCV000239653] Chr18:76841645..78077248 [GRCh37]
Chr18:18q23		 pathogenic
NC_000018.9:g.73376178_78077248del4701071 deletion Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome [RCV000239622] Chr18:73376178..78077248 [GRCh37]
Chr18:18q23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:59461447-78010032)x1 copy number loss not provided [RCV000416006] Chr18:59461447..78010032 [GRCh37]
Chr18:18q21.33-23		 likely pathogenic
GRCh37/hg19 18q21.33-23(chr18:59332806-78014123)x1 copy number loss See cases [RCV000449163] Chr18:59332806..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:65648458-78005185)x1 copy number loss See cases [RCV000446791] Chr18:65648458..78005185 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q23(chr18:77274107-77923180)x3 copy number gain See cases [RCV000447089] Chr18:77274107..77923180 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18q23(chr18:77098565-78014123)x1 copy number loss See cases [RCV000446496] Chr18:77098565..78014123 [GRCh37]
Chr18:18q23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:66593317-78014123)x1 copy number loss See cases [RCV000447117] Chr18:66593317..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:60641553-78014123)x1 copy number loss See cases [RCV000447127] Chr18:60641553..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q23(chr18:74064964-78014123)x3 copy number gain See cases [RCV000447136] Chr18:74064964..78014123 [GRCh37]
Chr18:18q23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:60796196-78014123)x1 copy number loss See cases [RCV000446171] Chr18:60796196..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1 copy number loss See cases [RCV000510720] Chr18:50224898..78014123 [GRCh37]
Chr18:18q21.2-23		 likely pathogenic
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)x1 copy number loss See cases [RCV000445943] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)x1 copy number loss See cases [RCV000447931] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)x1 copy number loss See cases [RCV000448656] Chr18:52837852..77989426 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:54462182-78014123)x1 copy number loss See cases [RCV000512059] Chr18:54462182..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3 copy number gain See cases [RCV000512081] Chr18:33417216..78014123 [GRCh37]
Chr18:18q12.2-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3 copy number gain See cases [RCV000510655] Chr18:47454437..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:59809990-78014123)x1 copy number loss See cases [RCV000510685] Chr18:59809990..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q23(chr18:76660408-78014123)x1 copy number loss See cases [RCV000510334] Chr18:76660408..78014123 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3 copy number gain See cases [RCV000511394] Chr18:43776770..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:64524888-78014123)x1 copy number loss See cases [RCV000511752] Chr18:64524888..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1 copy number loss See cases [RCV000511759] Chr18:46177798..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3 copy number gain See cases [RCV000511203] Chr18:42930373..78014123 [GRCh37]
Chr18:18q12.3-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:70340543-78014123)x1 copy number loss See cases [RCV000511232] Chr18:70340543..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:66625843-78014123)x1 copy number loss See cases [RCV000510824] Chr18:66625843..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:59876469-78014123)x1 copy number loss See cases [RCV000511105] Chr18:59876469..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
Single allele deletion Deletion of long arm of chromosome 18 [RCV000768454] Chr18:58024137..77996821 [GRCh37]
Chr18:18q21.32-23		 pathogenic
NM_001278669.2(NFATC1):c.2390C>A (p.Ala797Asp) single nucleotide variant Inborn genetic diseases [RCV003301706] Chr18:79486545 [GRCh38]
Chr18:77246545 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18q22.1-23(chr18:61802304-78015180)x1 copy number loss See cases [RCV000515583] Chr18:61802304..78015180 [GRCh37]
Chr18:18q22.1-23		 pathogenic
NM_001278669.2(NFATC1):c.814G>A (p.Gly272Ser) single nucleotide variant Inborn genetic diseases [RCV003279459] Chr18:79411089 [GRCh38]
Chr18:77171089 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.2735C>T (p.Thr912Met) single nucleotide variant Inborn genetic diseases [RCV003244244] Chr18:79486890 [GRCh38]
Chr18:77246890 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18q22.1-23(chr18:61673145-78014123)x1 copy number loss See cases [RCV000512607] Chr18:61673145..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q22.2-23(chr18:67431406-78014123)x1 copy number loss See cases [RCV000512218] Chr18:67431406..78014123 [GRCh37]
Chr18:18q22.2-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:66593317-78014123)x1 copy number loss See cases [RCV000512281] Chr18:66593317..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 copy number gain See cases [RCV000512425] Chr18:31879854..78014123 [GRCh37]
Chr18:18q12.1-23		 pathogenic
GRCh37/hg19 18q21.32-23(chr18:58768873-78014123)x1 copy number loss See cases [RCV000512579] Chr18:58768873..78014123 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q23(chr18:73214538-78014123)x1 copy number loss not provided [RCV000684042] Chr18:73214538..78014123 [GRCh37]
Chr18:18q23		 pathogenic|likely pathogenic
GRCh37/hg19 18q22.3-23(chr18:69968033-78014123)x1 copy number loss not provided [RCV000684045] Chr18:69968033..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q22.2-23(chr18:67082104-78014123)x1 copy number loss not provided [RCV000684047] Chr18:67082104..78014123 [GRCh37]
Chr18:18q22.2-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:64764747-78014123)x1 copy number loss not provided [RCV000684049] Chr18:64764747..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:64610595-78014123)x1 copy number loss not provided [RCV000684050] Chr18:64610595..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q21.32-23(chr18:56905884-78014123)x1 copy number loss not provided [RCV000684058] Chr18:56905884..78014123 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:55298900-78014123)x1 copy number loss not provided [RCV000684059] Chr18:55298900..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1 copy number loss not provided [RCV000684060] Chr18:46942427..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q23(chr18:75135713-78014123)x3 copy number gain not provided [RCV000684034] Chr18:75135713..78014123 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18q23(chr18:74472294-78014123)x3 copy number gain not provided [RCV000684039] Chr18:74472294..78014123 [GRCh37]
Chr18:18q23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:60416709-78014123)x1 copy number loss not provided [RCV000684055] Chr18:60416709..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q23(chr18:77274107-77799676)x3 copy number gain not provided [RCV000684004] Chr18:77274107..77799676 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18q23(chr18:77100937-77783404)x3 copy number gain not provided [RCV000684008] Chr18:77100937..77783404 [GRCh37]
Chr18:18q23		 likely benign
GRCh37/hg19 18q23(chr18:76742109-77165382)x3 copy number gain not provided [RCV000845756] Chr18:76742109..77165382 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18q21.2-23(chr18:52802515-78015180)x1 copy number loss not provided [RCV000739824] Chr18:52802515..78015180 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q22.2-23(chr18:68552596-78015180)x1 copy number loss not provided [RCV000739867] Chr18:68552596..78015180 [GRCh37]
Chr18:18q22.2-23		 pathogenic
GRCh37/hg19 18q23(chr18:75267497-77310374)x1 copy number loss not provided [RCV000739889] Chr18:75267497..77310374 [GRCh37]
Chr18:18q23		 benign
GRCh37/hg19 18q23(chr18:74285842-78010032)x1 copy number loss not provided [RCV000762707] Chr18:74285842..78010032 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.2677C>T (p.Arg893Trp) single nucleotide variant Inborn genetic diseases [RCV003245158] Chr18:79486832 [GRCh38]
Chr18:77246832 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.617A>C (p.Gln206Pro) single nucleotide variant Inborn genetic diseases [RCV003245980] Chr18:79410892 [GRCh38]
Chr18:77170892 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.32-23(chr18:57244903-77325446)x1 copy number loss not provided [RCV000752356] Chr18:57244903..77325446 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:59585959-78015180)x1 copy number loss not provided [RCV000752366] Chr18:59585959..78015180 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q23(chr18:73528968-78015180)x1 copy number loss not provided [RCV000752412] Chr18:73528968..78015180 [GRCh37]
Chr18:18q23		 pathogenic
NM_001278669.2(NFATC1):c.786T>G (p.Pro262=) single nucleotide variant not provided [RCV001725312] Chr18:79411061 [GRCh38]
Chr18:77171061 [GRCh37]
Chr18:18q23		 benign
NM_001278669.2(NFATC1):c.104G>A (p.Gly35Asp) single nucleotide variant not provided [RCV000884123] Chr18:79396328 [GRCh38]
Chr18:77156328 [GRCh37]
Chr18:18q23		 benign
NM_001278669.2(NFATC1):c.105C>T (p.Gly35=) single nucleotide variant NFATC1-related condition [RCV003940484]|not provided [RCV000884124] Chr18:79396329 [GRCh38]
Chr18:77156329 [GRCh37]
Chr18:18q23		 benign
NM_001278669.2(NFATC1):c.1446C>T (p.Asp482=) single nucleotide variant NFATC1-related condition [RCV003910842]|not provided [RCV000906774] Chr18:79448841 [GRCh38]
Chr18:77208841 [GRCh37]
Chr18:18q23		 benign|likely benign
NM_001278669.2(NFATC1):c.723G>A (p.Ser241=) single nucleotide variant NFATC1-related condition [RCV003920769]|not provided [RCV000891805] Chr18:79410998 [GRCh38]
Chr18:77170998 [GRCh37]
Chr18:18q23		 benign
NM_001278669.2(NFATC1):c.889G>A (p.Asp297Asn) single nucleotide variant not provided [RCV000882061] Chr18:79411164 [GRCh38]
Chr18:77171164 [GRCh37]
Chr18:18q23		 likely benign
Single allele deletion Intestinal malrotation [RCV000754988] Chr18:64876751..78015117 [GRCh37]
Chr18:18q22.1-23		 pathogenic
NM_001278669.2(NFATC1):c.2290G>A (p.Val764Met) single nucleotide variant NFATC1-related condition [RCV003960813]|not provided [RCV000969708] Chr18:79486445 [GRCh38]
Chr18:77246445 [GRCh37]
Chr18:18q23		 benign
NM_001278669.2(NFATC1):c.636C>G (p.Pro212=) single nucleotide variant not provided [RCV000925366] Chr18:79410911 [GRCh38]
Chr18:77170911 [GRCh37]
Chr18:18q23		 benign|likely benign
NM_001278669.2(NFATC1):c.855G>A (p.Pro285=) single nucleotide variant not provided [RCV000969107] Chr18:79411130 [GRCh38]
Chr18:77171130 [GRCh37]
Chr18:18q23		 benign
Single allele deletion Deletion of long arm of chromosome 18 [RCV002280357] Chr18:61490305..80247612 [GRCh38]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q23(chr18:75146662-78014582) copy number gain not provided [RCV000767812] Chr18:75146662..78014582 [GRCh37]
Chr18:18q23		 likely pathogenic
NM_001278669.2(NFATC1):c.1589+8G>A single nucleotide variant NFATC1-related condition [RCV003920861]|not provided [RCV000898327] Chr18:79448992 [GRCh38]
Chr18:77208992 [GRCh37]
Chr18:18q23		 benign|likely benign
NM_001278669.2(NFATC1):c.1521C>T (p.His507=) single nucleotide variant NFATC1-related condition [RCV003905877]|not provided [RCV000964384] Chr18:79448916 [GRCh38]
Chr18:77208916 [GRCh37]
Chr18:18q23		 benign|likely benign
NM_001278669.2(NFATC1):c.360C>T (p.Ile120=) single nucleotide variant not provided [RCV000927050] Chr18:79410635 [GRCh38]
Chr18:77170635 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.1190C>T (p.Ala397Val) single nucleotide variant not provided [RCV000888028] Chr18:79411465 [GRCh38]
Chr18:77171465 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.2372C>T (p.Pro791Leu) single nucleotide variant NFATC1-related condition [RCV003936020]|not provided [RCV000966519] Chr18:79486527 [GRCh38]
Chr18:77246527 [GRCh37]
Chr18:18q23		 benign
NM_001278669.2(NFATC1):c.237C>T (p.Ile79=) single nucleotide variant not provided [RCV000905144] Chr18:79410512 [GRCh38]
Chr18:77170512 [GRCh37]
Chr18:18q23		 benign
NM_001278669.2(NFATC1):c.1205T>C (p.Leu402Pro) single nucleotide variant NFATC1-related condition [RCV003936190]|not provided [RCV000974482] Chr18:79411480 [GRCh38]
Chr18:77171480 [GRCh37]
Chr18:18q23		 benign|likely benign
NM_001278669.2(NFATC1):c.1056C>T (p.Pro352=) single nucleotide variant not provided [RCV000879151] Chr18:79411331 [GRCh38]
Chr18:77171331 [GRCh37]
Chr18:18q23		 benign
GRCh37/hg19 18q23(chr18:73158604-78015180)x1 copy number loss See cases [RCV001007418] Chr18:73158604..78015180 [GRCh37]
Chr18:18q23		 pathogenic
GRCh37/hg19 18q21.32-23(chr18:56750525-78014123)x1 copy number loss not provided [RCV001007018] Chr18:56750525..78014123 [GRCh37]
Chr18:18q21.32-23		 pathogenic
NM_001278669.2(NFATC1):c.291C>T (p.Pro97=) single nucleotide variant NFATC1-related condition [RCV003916087]|not provided [RCV000962650] Chr18:79410566 [GRCh38]
Chr18:77170566 [GRCh37]
Chr18:18q23		 benign
Single allele deletion Neurodevelopmental disorder [RCV000787397] Chr18:62984563..78015117 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:70011110-78014123)x1 copy number loss not provided [RCV000847255] Chr18:70011110..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:70011110-78014123)x1 copy number loss not provided [RCV000847258] Chr18:70011110..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1 copy number loss not provided [RCV001007016] Chr18:49460596..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:60098018-78014123)x1 copy number loss not provided [RCV001007019] Chr18:60098018..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q23(chr18:76634821-77259276)x3 copy number gain not provided [RCV000846416] Chr18:76634821..77259276 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18q22.3-23(chr18:71740696-78005231)x1 copy number loss not provided [RCV003312421] Chr18:71740696..78005231 [GRCh37]
Chr18:18q22.3-23		 pathogenic
NM_001278669.2(NFATC1):c.860C>T (p.Pro287Leu) single nucleotide variant not provided [RCV001249239] Chr18:79411135 [GRCh38]
Chr18:77171135 [GRCh37]
Chr18:18q23		 uncertain significance|not provided
NM_001278669.2(NFATC1):c.1809G>A (p.Thr603=) single nucleotide variant not provided [RCV000907719] Chr18:79451722 [GRCh38]
Chr18:77211722 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.153C>T (p.Asn51=) single nucleotide variant NFATC1-related condition [RCV003928519]|not provided [RCV000971821] Chr18:79410428 [GRCh38]
Chr18:77170428 [GRCh37]
Chr18:18q23		 benign
NM_001278669.2(NFATC1):c.204G>A (p.Pro68=) single nucleotide variant NFATC1-related condition [RCV003905938]|not provided [RCV000967780] Chr18:79410479 [GRCh38]
Chr18:77170479 [GRCh37]
Chr18:18q23		 benign
GRCh37/hg19 18q22.3-23(chr18:70212733-78014123)x1 copy number loss not provided [RCV001007022] Chr18:70212733..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
NM_001278669.2(NFATC1):c.294G>A (p.Ala98=) single nucleotide variant NFATC1-related condition [RCV003915951]|not provided [RCV000957763] Chr18:79410569 [GRCh38]
Chr18:77170569 [GRCh37]
Chr18:18q23		 benign
NM_001278669.2(NFATC1):c.2019C>T (p.His673=) single nucleotide variant not provided [RCV000913912] Chr18:79467509 [GRCh38]
Chr18:77227509 [GRCh37]
Chr18:18q23		 likely benign
GRCh37/hg19 18q22.1-23(chr18:66530142-78014123)x1 copy number loss not provided [RCV002472600] Chr18:66530142..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:55458425-78014123)x1 copy number loss not provided [RCV001007017] Chr18:55458425..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
GRCh37/hg19 18q23(chr18:76693568-77235493)x3 copy number gain not provided [RCV001007012] Chr18:76693568..77235493 [GRCh37]
Chr18:18q23		 likely benign
GRCh37/hg19 18q23(chr18:76750692-77256620)x3 copy number gain not provided [RCV001007013] Chr18:76750692..77256620 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18q22.1-23(chr18:63247046-78014123)x1 copy number loss not provided [RCV001007020] Chr18:63247046..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
NM_001278669.2(NFATC1):c.1226+17G>A single nucleotide variant not provided [RCV001611610] Chr18:79411518 [GRCh38]
Chr18:77171518 [GRCh37]
Chr18:18q23		 benign
GRCh37/hg19 18q23(chr18:75494800-78014123)x3 copy number gain not provided [RCV001007024] Chr18:75494800..78014123 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18q23(chr18:76926425-77634445)x3 copy number gain not provided [RCV001007014] Chr18:76926425..77634445 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18q22.2-23(chr18:67551299-78014123)x1 copy number loss not provided [RCV001007021] Chr18:67551299..78014123 [GRCh37]
Chr18:18q22.2-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:70383594-78014123)x1 copy number loss not provided [RCV001007023] Chr18:70383594..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 copy number gain not provided [RCV001537911] Chr18:23626739..78014976 [GRCh37]
Chr18:18q11.2-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:70835154-78014123)x1 copy number loss not provided [RCV001259363] Chr18:70835154..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:63747519-78014123)x3 copy number gain not provided [RCV001259360] Chr18:63747519..78014123 [GRCh37]
Chr18:18q22.1-23		 likely pathogenic
GRCh37/hg19 18q21.2-23(chr18:51925586-78010032) copy number gain Global developmental delay [RCV001352665] Chr18:51925586..78010032 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:54285235-77960815)x1 copy number loss not provided [RCV001531449] Chr18:54285235..77960815 [GRCh37]
Chr18:18q21.31-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:52675201-78014123) copy number loss not specified [RCV002052641] Chr18:52675201..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
NM_001278669.2(NFATC1):c.1265A>G (p.His422Arg) single nucleotide variant not provided [RCV001864059] Chr18:79433617 [GRCh38]
Chr18:77193617 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123) copy number loss not specified [RCV002052643] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q23(chr18:77274107-77923180) copy number gain not specified [RCV002052667] Chr18:77274107..77923180 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.2338G>A (p.Val780Ile) single nucleotide variant not provided [RCV001984977] Chr18:79486493 [GRCh38]
Chr18:77246493 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.670G>A (p.Gly224Arg) single nucleotide variant Inborn genetic diseases [RCV002608091]|not provided [RCV001984086] Chr18:79410945 [GRCh38]
Chr18:77170945 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18q21.32-23(chr18:58305972-78014123) copy number loss not specified [RCV002052647] Chr18:58305972..78014123 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:70333866-78014123) copy number loss not specified [RCV002052662] Chr18:70333866..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q23(chr18:75797336-78014123) copy number loss not specified [RCV002052665] Chr18:75797336..78014123 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18q21.2-23(chr18:53309113-78014123) copy number loss not specified [RCV002052646] Chr18:53309113..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123) copy number loss not specified [RCV002052636] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426) copy number loss not specified [RCV002052642] Chr18:52837852..77989426 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:59332806-78014123) copy number loss not specified [RCV002052649] Chr18:59332806..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:64340599-77273893) copy number loss not specified [RCV002052652] Chr18:64340599..77273893 [GRCh37]
Chr18:18q22.1-23		 pathogenic
NM_001278669.2(NFATC1):c.231G>A (p.Pro77=) single nucleotide variant not provided [RCV001964894] Chr18:79410506 [GRCh38]
Chr18:77170506 [GRCh37]
Chr18:18q23		 likely benign|uncertain significance
GRCh37/hg19 18q23(chr18:76355724-77449956)x3 copy number gain not provided [RCV001829129] Chr18:76355724..77449956 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.223T>G (p.Ser75Ala) single nucleotide variant not provided [RCV001912170] Chr18:79410498 [GRCh38]
Chr18:77170498 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18q23(chr18:76304293-77982228) copy number gain not specified [RCV002052666] Chr18:76304293..77982228 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.1229C>G (p.Pro410Arg) single nucleotide variant not provided [RCV001893030] Chr18:79433581 [GRCh38]
Chr18:77193581 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.491C>G (p.Ala164Gly) single nucleotide variant not provided [RCV001954457] Chr18:79410766 [GRCh38]
Chr18:77170766 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.1440G>A (p.Thr480=) single nucleotide variant not provided [RCV001974275] Chr18:79448835 [GRCh38]
Chr18:77208835 [GRCh37]
Chr18:18q23		 likely benign|uncertain significance
NM_001278669.2(NFATC1):c.412G>A (p.Asp138Asn) single nucleotide variant Inborn genetic diseases [RCV003170217]|not provided [RCV001997940] Chr18:79410687 [GRCh38]
Chr18:77170687 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.1113CTC[1] (p.Ser373del) microsatellite not provided [RCV001879089] Chr18:79411388..79411390 [GRCh38]
Chr18:77171388..77171390 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.2407G>A (p.Val803Met) single nucleotide variant not provided [RCV001898502] Chr18:79486562 [GRCh38]
Chr18:77246562 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.1442C>T (p.Ala481Val) single nucleotide variant not provided [RCV002015066] Chr18:79448837 [GRCh38]
Chr18:77208837 [GRCh37]
Chr18:18q23		 uncertain significance
NC_000018.9:g.(?_77156225)_(77287530_?)dup duplication not provided [RCV002011872] Chr18:77156225..77287530 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.2092+9A>C single nucleotide variant NFATC1-related condition [RCV003913751]|not provided [RCV002129992] Chr18:79467591 [GRCh38]
Chr18:77227591 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.1350C>T (p.Ala450=) single nucleotide variant not provided [RCV002086174] Chr18:79433702 [GRCh38]
Chr18:77193702 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.2280G>A (p.Ala760=) single nucleotide variant NFATC1-related condition [RCV003913736]|not provided [RCV002124874] Chr18:79486435 [GRCh38]
Chr18:77246435 [GRCh37]
Chr18:18q23		 benign
NM_001278669.2(NFATC1):c.1104C>T (p.Pro368=) single nucleotide variant NFATC1-related condition [RCV003968714]|not provided [RCV002090307] Chr18:79411379 [GRCh38]
Chr18:77171379 [GRCh37]
Chr18:18q23		 benign
NM_001278669.2(NFATC1):c.171G>A (p.Pro57=) single nucleotide variant not provided [RCV002084858] Chr18:79410446 [GRCh38]
Chr18:77170446 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.1069C>G (p.Leu357Val) single nucleotide variant NFATC1-related condition [RCV003903361]|not provided [RCV002105194] Chr18:79411344 [GRCh38]
Chr18:77171344 [GRCh37]
Chr18:18q23		 benign|likely benign
NM_001278669.2(NFATC1):c.2383G>A (p.Gly795Arg) single nucleotide variant NFATC1-related condition [RCV003951111]|not provided [RCV002132489] Chr18:79486538 [GRCh38]
Chr18:77246538 [GRCh37]
Chr18:18q23		 benign|likely benign
NM_001278669.2(NFATC1):c.1527C>T (p.Ala509=) single nucleotide variant NFATC1-related condition [RCV003984209]|not provided [RCV002124767] Chr18:79448922 [GRCh38]
Chr18:77208922 [GRCh37]
Chr18:18q23		 benign
NM_001278669.2(NFATC1):c.1887C>T (p.Phe629=) single nucleotide variant not provided [RCV002165939] Chr18:79451800 [GRCh38]
Chr18:77211800 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.567C>T (p.Tyr189=) single nucleotide variant not provided [RCV002171003] Chr18:79410842 [GRCh38]
Chr18:77170842 [GRCh37]
Chr18:18q23		 benign
NM_001278669.2(NFATC1):c.1851T>C (p.Ser617=) single nucleotide variant NFATC1-related condition [RCV003978901]|not provided [RCV002190979] Chr18:79451764 [GRCh38]
Chr18:77211764 [GRCh37]
Chr18:18q23		 benign
NM_001278669.2(NFATC1):c.1986A>G (p.Pro662=) single nucleotide variant NFATC1-related condition [RCV003971174]|not provided [RCV002196138] Chr18:79467476 [GRCh38]
Chr18:77227476 [GRCh37]
Chr18:18q23		 benign
NM_001278669.2(NFATC1):c.2251T>G (p.Cys751Gly) single nucleotide variant not provided [RCV002153125] Chr18:79486406 [GRCh38]
Chr18:77246406 [GRCh37]
Chr18:18q23		 benign
NM_001278669.2(NFATC1):c.267C>T (p.Tyr89=) single nucleotide variant NFATC1-related condition [RCV003978715]|not provided [RCV002132187] Chr18:79410542 [GRCh38]
Chr18:77170542 [GRCh37]
Chr18:18q23		 benign
NM_001278669.2(NFATC1):c.1461C>T (p.Arg487=) single nucleotide variant not provided [RCV002116145] Chr18:79448856 [GRCh38]
Chr18:77208856 [GRCh37]
Chr18:18q23		 benign
NM_001278669.2(NFATC1):c.1762+16C>T single nucleotide variant not provided [RCV002139063] Chr18:79451142 [GRCh38]
Chr18:77211142 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.1326C>T (p.Tyr442=) single nucleotide variant NFATC1-related condition [RCV003926319]|not provided [RCV002204282] Chr18:79433678 [GRCh38]
Chr18:77193678 [GRCh37]
Chr18:18q23		 benign|likely benign
NM_001278669.2(NFATC1):c.1830C>T (p.Gly610=) single nucleotide variant not provided [RCV002221100] Chr18:79451743 [GRCh38]
Chr18:77211743 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.2289C>T (p.Gly763=) single nucleotide variant NFATC1-related condition [RCV003970956]|not provided [RCV002137138] Chr18:79486444 [GRCh38]
Chr18:77246444 [GRCh37]
Chr18:18q23		 benign
NM_001278669.2(NFATC1):c.1983G>A (p.Pro661=) single nucleotide variant NFATC1-related condition [RCV003916341]|not provided [RCV002163756] Chr18:79467473 [GRCh38]
Chr18:77227473 [GRCh37]
Chr18:18q23		 benign
NM_001278669.2(NFATC1):c.127+13C>T single nucleotide variant not provided [RCV002118441] Chr18:79396364 [GRCh38]
Chr18:77156364 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.2064C>T (p.Tyr688=) single nucleotide variant not provided [RCV002084234] Chr18:79467554 [GRCh38]
Chr18:77227554 [GRCh37]
Chr18:18q23		 benign
Single allele deletion Pulmonary valve stenosis [RCV002247713] Chr18:69541066..80373285 [GRCh38]
Chr18:18q22.2-23		 pathogenic
NM_001278669.2(NFATC1):c.202C>A (p.Pro68Thr) single nucleotide variant NFATC1-related condition [RCV003978889]|not provided [RCV002178439] Chr18:79410477 [GRCh38]
Chr18:77170477 [GRCh37]
Chr18:18q23		 benign
NM_001278669.2(NFATC1):c.849C>G (p.Pro283=) single nucleotide variant not provided [RCV002180230] Chr18:79411124 [GRCh38]
Chr18:77171124 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.2247G>C (p.Pro749=) single nucleotide variant not provided [RCV002157403] Chr18:79486402 [GRCh38]
Chr18:77246402 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.1239C>T (p.Pro413=) single nucleotide variant not provided [RCV002143139] Chr18:79433591 [GRCh38]
Chr18:77193591 [GRCh37]
Chr18:18q23		 benign
NM_001278669.2(NFATC1):c.183G>A (p.Ala61=) single nucleotide variant not provided [RCV002217751] Chr18:79410458 [GRCh38]
Chr18:77170458 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.1226+7C>T single nucleotide variant not provided [RCV002144360] Chr18:79411508 [GRCh38]
Chr18:77171508 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.2137C>T (p.Pro713Ser) single nucleotide variant not provided [RCV003115376] Chr18:79486292 [GRCh38]
Chr18:77246292 [GRCh37]
Chr18:18q23		 uncertain significance
NC_000018.9:g.(?_76773973)_(77748392_?)del deletion not provided [RCV003113572] Chr18:76773973..77748392 [GRCh37]
Chr18:18q23		 uncertain significance
NC_000018.9:g.(?_77221291)_(77440281_?)dup duplication not provided [RCV003113574] Chr18:77221291..77440281 [GRCh37]
Chr18:18q23		 uncertain significance
NC_000018.9:g.(?_76773973)_(77748392_?)dup duplication not provided [RCV003113578] Chr18:76773973..77748392 [GRCh37]
Chr18:18q23		 uncertain significance
NC_000018.9:g.(?_77156225)_(77287530_?)del deletion not provided [RCV003116535] Chr18:77156225..77287530 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18q21.33-23(chr18:61289055-78014123) copy number loss Deletion of long arm of chromosome 18 [RCV002280712] Chr18:61289055..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:72669936-77889946)x1 copy number loss See cases [RCV002293965] Chr18:72669936..77889946 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q23(chr18:76498136-77400047)x1 copy number loss Isolated anorectal malformation [RCV002286605] Chr18:76498136..77400047 [GRCh37]
Chr18:18q23		 association
GRCh37/hg19 18q21.2-23(chr18:53624405-78014123)x1 copy number loss not provided [RCV002473956] Chr18:53624405..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q23(chr18:76926426-78014123)x1 copy number loss not provided [RCV002472406] Chr18:76926426..78014123 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18q21.33-23(chr18:61520071-78014123)x1 copy number loss not provided [RCV002472513] Chr18:61520071..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
NM_001278669.2(NFATC1):c.37C>G (p.Pro13Ala) single nucleotide variant Inborn genetic diseases [RCV002970464] Chr18:79396261 [GRCh38]
Chr18:77156261 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.763C>T (p.Arg255Cys) single nucleotide variant Inborn genetic diseases [RCV002754045] Chr18:79411038 [GRCh38]
Chr18:77171038 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.2308G>T (p.Asp770Tyr) single nucleotide variant Inborn genetic diseases [RCV002905596] Chr18:79486463 [GRCh38]
Chr18:77246463 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.127+4077T>A single nucleotide variant Inborn genetic diseases [RCV002970029] Chr18:79400428 [GRCh38]
Chr18:77160428 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.2426C>T (p.Thr809Met) single nucleotide variant not provided [RCV002967540] Chr18:79486581 [GRCh38]
Chr18:77246581 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.2069G>A (p.Arg690His) single nucleotide variant not provided [RCV002771124] Chr18:79467559 [GRCh38]
Chr18:77227559 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.2239G>A (p.Gly747Ser) single nucleotide variant NFATC1-related condition [RCV003973511]|not provided [RCV002907810] Chr18:79486394 [GRCh38]
Chr18:77246394 [GRCh37]
Chr18:18q23		 benign
NM_001278669.2(NFATC1):c.2395G>A (p.Ala799Thr) single nucleotide variant Inborn genetic diseases [RCV002988799]|not provided [RCV002994988] Chr18:79486550 [GRCh38]
Chr18:77246550 [GRCh37]
Chr18:18q23		 likely benign|uncertain significance
NM_001278669.2(NFATC1):c.845C>T (p.Ser282Leu) single nucleotide variant Inborn genetic diseases [RCV002682923] Chr18:79411120 [GRCh38]
Chr18:77171120 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.987T>C (p.Asp329=) single nucleotide variant not provided [RCV002750380] Chr18:79411262 [GRCh38]
Chr18:77171262 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.2704G>A (p.Gly902Ser) single nucleotide variant Inborn genetic diseases [RCV002682619] Chr18:79486859 [GRCh38]
Chr18:77246859 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.2379G>A (p.Pro793=) single nucleotide variant not provided [RCV002975241] Chr18:79486534 [GRCh38]
Chr18:77246534 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.127+4048G>A single nucleotide variant Inborn genetic diseases [RCV002689793] Chr18:79400399 [GRCh38]
Chr18:77160399 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.449G>A (p.Arg150Gln) single nucleotide variant Inborn genetic diseases [RCV002728207] Chr18:79410724 [GRCh38]
Chr18:77170724 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.1806C>T (p.Ser602=) single nucleotide variant not provided [RCV002914519] Chr18:79451719 [GRCh38]
Chr18:77211719 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.1226+14G>A single nucleotide variant not provided [RCV002623134] Chr18:79411515 [GRCh38]
Chr18:77171515 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.1568C>T (p.Pro523Leu) single nucleotide variant not provided [RCV002696042] Chr18:79448963 [GRCh38]
Chr18:77208963 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.691C>G (p.Leu231Val) single nucleotide variant not provided [RCV002885360] Chr18:79410966 [GRCh38]
Chr18:77170966 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.778G>A (p.Ala260Thr) single nucleotide variant Inborn genetic diseases [RCV002758663]|not provided [RCV003720752] Chr18:79411053 [GRCh38]
Chr18:77171053 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.1386+6C>T single nucleotide variant NFATC1-related condition [RCV003926482]|not provided [RCV002913353] Chr18:79433744 [GRCh38]
Chr18:77193744 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.269G>T (p.Gly90Val) single nucleotide variant not provided [RCV002639541] Chr18:79410544 [GRCh38]
Chr18:77170544 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.881G>C (p.Ser294Thr) single nucleotide variant Inborn genetic diseases [RCV002758613] Chr18:79411156 [GRCh38]
Chr18:77171156 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.2275C>A (p.Pro759Thr) single nucleotide variant Inborn genetic diseases [RCV002925130] Chr18:79486430 [GRCh38]
Chr18:77246430 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.2642C>T (p.Thr881Met) single nucleotide variant Inborn genetic diseases [RCV002926193] Chr18:79486797 [GRCh38]
Chr18:77246797 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.1432A>G (p.Ile478Val) single nucleotide variant not provided [RCV002913181] Chr18:79448827 [GRCh38]
Chr18:77208827 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.583T>C (p.Tyr195His) single nucleotide variant Inborn genetic diseases [RCV002660133]|not provided [RCV003730248] Chr18:79410858 [GRCh38]
Chr18:77170858 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.104_105delinsAT (p.Gly35Asp) indel not provided [RCV003100506] Chr18:79396328..79396329 [GRCh38]
Chr18:77156328..77156329 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.2378C>T (p.Pro793Leu) single nucleotide variant Inborn genetic diseases [RCV002980396] Chr18:79486533 [GRCh38]
Chr18:77246533 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.2398G>A (p.Val800Ile) single nucleotide variant not provided [RCV002595533] Chr18:79486553 [GRCh38]
Chr18:77246553 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.1226+8G>A single nucleotide variant NFATC1-related condition [RCV003943629]|not provided [RCV002928731] Chr18:79411509 [GRCh38]
Chr18:77171509 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.179C>T (p.Thr60Met) single nucleotide variant Inborn genetic diseases [RCV002938083]|not provided [RCV002919030] Chr18:79410454 [GRCh38]
Chr18:77170454 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.703C>T (p.Arg235Trp) single nucleotide variant Inborn genetic diseases [RCV002645410] Chr18:79410978 [GRCh38]
Chr18:77170978 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.2203G>A (p.Ala735Thr) single nucleotide variant not provided [RCV003084155] Chr18:79486358 [GRCh38]
Chr18:77246358 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.1169C>T (p.Pro390Leu) single nucleotide variant Inborn genetic diseases [RCV002786897] Chr18:79411444 [GRCh38]
Chr18:77171444 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.2239G>C (p.Gly747Arg) single nucleotide variant Inborn genetic diseases [RCV002713038] Chr18:79486394 [GRCh38]
Chr18:77246394 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.2301G>A (p.Lys767=) single nucleotide variant not provided [RCV002957857] Chr18:79486456 [GRCh38]
Chr18:77246456 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.1365C>T (p.Ala455=) single nucleotide variant not provided [RCV002957435] Chr18:79433717 [GRCh38]
Chr18:77193717 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.2486C>T (p.Pro829Leu) single nucleotide variant Inborn genetic diseases [RCV002766971] Chr18:79486641 [GRCh38]
Chr18:77246641 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.1819C>G (p.Pro607Ala) single nucleotide variant Inborn genetic diseases [RCV002827262] Chr18:79451732 [GRCh38]
Chr18:77211732 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.128-12T>A single nucleotide variant not provided [RCV002572274] Chr18:79410391 [GRCh38]
Chr18:77170391 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.1069C>A (p.Leu357Met) single nucleotide variant Inborn genetic diseases [RCV002940224] Chr18:79411344 [GRCh38]
Chr18:77171344 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.1763-12C>T single nucleotide variant not provided [RCV002597933] Chr18:79451664 [GRCh38]
Chr18:77211664 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.2353C>T (p.His785Tyr) single nucleotide variant Inborn genetic diseases [RCV002920954] Chr18:79486508 [GRCh38]
Chr18:77246508 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.1972G>A (p.Val658Ile) single nucleotide variant Inborn genetic diseases [RCV002960065] Chr18:79467462 [GRCh38]
Chr18:77227462 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.628G>A (p.Val210Met) single nucleotide variant not provided [RCV002937693] Chr18:79410903 [GRCh38]
Chr18:77170903 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.149C>T (p.Ser50Phe) single nucleotide variant Inborn genetic diseases [RCV002668278] Chr18:79410424 [GRCh38]
Chr18:77170424 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.922A>G (p.Thr308Ala) single nucleotide variant Inborn genetic diseases [RCV002809237] Chr18:79411197 [GRCh38]
Chr18:77171197 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.2382C>T (p.Ala794=) single nucleotide variant NFATC1-related condition [RCV003926626]|not provided [RCV002963196] Chr18:79486537 [GRCh38]
Chr18:77246537 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.2255C>T (p.Pro752Leu) single nucleotide variant Inborn genetic diseases [RCV002769711] Chr18:79486410 [GRCh38]
Chr18:77246410 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.1447G>A (p.Asp483Asn) single nucleotide variant not provided [RCV002600474] Chr18:79448842 [GRCh38]
Chr18:77208842 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.110T>C (p.Met37Thr) single nucleotide variant Inborn genetic diseases [RCV002836232] Chr18:79396334 [GRCh38]
Chr18:77156334 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.1406A>C (p.Asn469Thr) single nucleotide variant Inborn genetic diseases [RCV002935534] Chr18:79448801 [GRCh38]
Chr18:77208801 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.163G>T (p.Ala55Ser) single nucleotide variant Inborn genetic diseases [RCV002713895] Chr18:79410438 [GRCh38]
Chr18:77170438 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.2473C>T (p.Gln825Ter) single nucleotide variant not provided [RCV002676881] Chr18:79486628 [GRCh38]
Chr18:77246628 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.1204C>G (p.Leu402Val) single nucleotide variant Inborn genetic diseases [RCV002723147] Chr18:79411479 [GRCh38]
Chr18:77171479 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.2307C>T (p.His769=) single nucleotide variant NFATC1-related condition [RCV003926686]|not provided [RCV003069446] Chr18:79486462 [GRCh38]
Chr18:77246462 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.127+19C>G single nucleotide variant not provided [RCV002635626] Chr18:79396370 [GRCh38]
Chr18:77156370 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.874C>T (p.Arg292Trp) single nucleotide variant Inborn genetic diseases [RCV002723181] Chr18:79411149 [GRCh38]
Chr18:77171149 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.268G>A (p.Gly90Arg) single nucleotide variant not provided [RCV002612605] Chr18:79410543 [GRCh38]
Chr18:77170543 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.854C>T (p.Pro285Leu) single nucleotide variant Inborn genetic diseases [RCV003215467]|not provided [RCV003549018] Chr18:79411129 [GRCh38]
Chr18:77171129 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18q22.1-23(chr18:66459747-78012829)x1 copy number loss Deletion of long arm of chromosome 18 [RCV003225711] Chr18:66459747..78012829 [GRCh37]
Chr18:18q22.1-23		 pathogenic
NM_001278669.2(NFATC1):c.2204C>T (p.Ala735Val) single nucleotide variant Inborn genetic diseases [RCV003208047] Chr18:79486359 [GRCh38]
Chr18:77246359 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.1210C>T (p.Pro404Ser) single nucleotide variant Inborn genetic diseases [RCV003190203] Chr18:79411485 [GRCh38]
Chr18:77171485 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.764G>A (p.Arg255His) single nucleotide variant Inborn genetic diseases [RCV003215613] Chr18:79411039 [GRCh38]
Chr18:77171039 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.2368C>T (p.Leu790Phe) single nucleotide variant Inborn genetic diseases [RCV003206751] Chr18:79486523 [GRCh38]
Chr18:77246523 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.127+4056G>A single nucleotide variant Inborn genetic diseases [RCV003206902] Chr18:79400407 [GRCh38]
Chr18:77160407 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.293C>T (p.Ala98Val) single nucleotide variant Inborn genetic diseases [RCV003207069] Chr18:79410568 [GRCh38]
Chr18:77170568 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.2348C>T (p.Pro783Leu) single nucleotide variant Inborn genetic diseases [RCV003175135]|not provided [RCV003720782] Chr18:79486503 [GRCh38]
Chr18:77246503 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.205T>C (p.Cys69Arg) single nucleotide variant Inborn genetic diseases [RCV003208263] Chr18:79410480 [GRCh38]
Chr18:77170480 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18q22.1-23(chr18:66057406-78014123) copy number loss Deletion of long arm of chromosome 18 [RCV003319595] Chr18:66057406..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:63476940-77960815)x1 copy number loss not provided [RCV003326989] Chr18:63476940..77960815 [GRCh37]
Chr18:18q22.1-23		 pathogenic
NM_001278669.2(NFATC1):c.1575C>A (p.Asn525Lys) single nucleotide variant Inborn genetic diseases [RCV003365802] Chr18:79448970 [GRCh38]
Chr18:77208970 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.524G>C (p.Ser175Thr) single nucleotide variant Inborn genetic diseases [RCV003385662] Chr18:79410799 [GRCh38]
Chr18:77170799 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.770C>G (p.Ser257Cys) single nucleotide variant Inborn genetic diseases [RCV003362591] Chr18:79411045 [GRCh38]
Chr18:77171045 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.1115C>A (p.Ser372Tyr) single nucleotide variant not provided [RCV003569391] Chr18:79411390 [GRCh38]
Chr18:77171390 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.1111T>G (p.Tyr371Asp) single nucleotide variant not provided [RCV003569390] Chr18:79411386 [GRCh38]
Chr18:77171386 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.2032G>A (p.Val678Ile) single nucleotide variant not specified [RCV003457228] Chr18:79467522 [GRCh38]
Chr18:77227522 [GRCh37]
Chr18:18q23		 benign
NM_001278669.2(NFATC1):c.1041G>A (p.Ala347=) single nucleotide variant not provided [RCV003874508] Chr18:79411316 [GRCh38]
Chr18:77171316 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.437C>T (p.Pro146Leu) single nucleotide variant not provided [RCV003488142] Chr18:79410712 [GRCh38]
Chr18:77170712 [GRCh37]
Chr18:18q23		 uncertain significance
GRCh37/hg19 18q21.33-23(chr18:60771809-78014123)x1 copy number loss not provided [RCV003483341] Chr18:60771809..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
NM_001278669.2(NFATC1):c.745G>A (p.Glu249Lys) single nucleotide variant not provided [RCV003873408] Chr18:79411020 [GRCh38]
Chr18:77171020 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.1626C>T (p.Ser542=) single nucleotide variant not provided [RCV003421679] Chr18:79450990 [GRCh38]
Chr18:77210990 [GRCh37]
Chr18:18q23		 likely benign
GRCh37/hg19 18q22.3-23(chr18:71401603-78014123)x1 copy number loss not provided [RCV003483343] Chr18:71401603..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
NM_001278669.2(NFATC1):c.2092+20C>T single nucleotide variant NFATC1-related condition [RCV003938957]|not provided [RCV003423126] Chr18:79467602 [GRCh38]
Chr18:77227602 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.1181A>G (p.Tyr394Cys) single nucleotide variant not provided [RCV003488143] Chr18:79411456 [GRCh38]
Chr18:77171456 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.186C>G (p.His62Gln) single nucleotide variant not provided [RCV003423125] Chr18:79410461 [GRCh38]
Chr18:77170461 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.1222A>G (p.Met408Val) single nucleotide variant NFATC1-related condition [RCV003410784] Chr18:79411497 [GRCh38]
Chr18:77171497 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.102C>T (p.Gly34=) single nucleotide variant not provided [RCV003413480] Chr18:79396326 [GRCh38]
Chr18:77156326 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.89C>T (p.Ala30Val) single nucleotide variant not provided [RCV003882235] Chr18:79396313 [GRCh38]
Chr18:77156313 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.1274C>T (p.Pro425Leu) single nucleotide variant not provided [RCV003827882] Chr18:79433626 [GRCh38]
Chr18:77193626 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.645G>A (p.Thr215=) single nucleotide variant not provided [RCV003573674] Chr18:79410920 [GRCh38]
Chr18:77170920 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.2150C>T (p.Pro717Leu) single nucleotide variant not provided [RCV003545532] Chr18:79486305 [GRCh38]
Chr18:77246305 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.51G>A (p.Ala17=) single nucleotide variant not provided [RCV003573700] Chr18:79396275 [GRCh38]
Chr18:77156275 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.128-15T>G single nucleotide variant not provided [RCV003882513] Chr18:79410388 [GRCh38]
Chr18:77170388 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.1904-11C>T single nucleotide variant not provided [RCV003851228] Chr18:79461300 [GRCh38]
Chr18:77221300 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.1579A>T (p.Met527Leu) single nucleotide variant not provided [RCV003580631] Chr18:79448974 [GRCh38]
Chr18:77208974 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.153C>A (p.Asn51Lys) single nucleotide variant not provided [RCV003697814] Chr18:79410428 [GRCh38]
Chr18:77170428 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.285T>C (p.Gly95=) single nucleotide variant not provided [RCV003726267] Chr18:79410560 [GRCh38]
Chr18:77170560 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.1433T>C (p.Ile478Thr) single nucleotide variant not provided [RCV003724291] Chr18:79448828 [GRCh38]
Chr18:77208828 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.579C>T (p.Tyr193=) single nucleotide variant not provided [RCV003673598] Chr18:79410854 [GRCh38]
Chr18:77170854 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.2205G>A (p.Ala735=) single nucleotide variant not provided [RCV003816299] Chr18:79486360 [GRCh38]
Chr18:77246360 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.1753A>G (p.Ile585Val) single nucleotide variant not provided [RCV003672230] Chr18:79451117 [GRCh38]
Chr18:77211117 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.1088C>T (p.Pro363Leu) single nucleotide variant not provided [RCV003559318] Chr18:79411363 [GRCh38]
Chr18:77171363 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.2250_2251delinsTG (p.Cys751Gly) indel not provided [RCV003851126] Chr18:79486405..79486406 [GRCh38]
Chr18:77246405..77246406 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.2439G>A (p.Ser813=) single nucleotide variant not provided [RCV003728208] Chr18:79486594 [GRCh38]
Chr18:77246594 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.2364C>T (p.Leu788=) single nucleotide variant not provided [RCV003735573] Chr18:79486519 [GRCh38]
Chr18:77246519 [GRCh37]
Chr18:18q23		 benign
NM_001278669.2(NFATC1):c.1589+14G>T single nucleotide variant not provided [RCV003843654] Chr18:79448998 [GRCh38]
Chr18:77208998 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.865G>A (p.Gly289Ser) single nucleotide variant not provided [RCV003730814] Chr18:79411140 [GRCh38]
Chr18:77171140 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.2247G>A (p.Pro749=) single nucleotide variant not provided [RCV003728472] Chr18:79486402 [GRCh38]
Chr18:77246402 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.2337C>T (p.Gly779=) single nucleotide variant not provided [RCV003704360] Chr18:79486492 [GRCh38]
Chr18:77246492 [GRCh37]
Chr18:18q23		 benign
NM_001278669.2(NFATC1):c.195G>C (p.Leu65=) single nucleotide variant not provided [RCV003820894] Chr18:79410470 [GRCh38]
Chr18:77170470 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.1099G>A (p.Ala367Thr) single nucleotide variant not provided [RCV003552912] Chr18:79411374 [GRCh38]
Chr18:77171374 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.1932G>A (p.Ala644=) single nucleotide variant not provided [RCV003733089] Chr18:79461339 [GRCh38]
Chr18:77221339 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.990C>T (p.Gly330=) single nucleotide variant not provided [RCV003554806] Chr18:79411265 [GRCh38]
Chr18:77171265 [GRCh37]
Chr18:18q23		 likely benign
GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1 copy number loss not specified [RCV003986103] Chr18:48766173..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:69968033-78014123)x1 copy number loss not specified [RCV003987276] Chr18:69968033..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:63427506-78014123)x1 copy number loss not specified [RCV003987279] Chr18:63427506..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:55363398-78014123)x1 copy number loss not specified [RCV003987273] Chr18:55363398..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:72453821-78014123)x1 copy number loss not specified [RCV003987280] Chr18:72453821..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
NM_001278669.2(NFATC1):c.162C>T (p.Pro54=) single nucleotide variant not provided [RCV003721652] Chr18:79410437 [GRCh38]
Chr18:77170437 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.952G>A (p.Ala318Thr) single nucleotide variant not provided [RCV003731884] Chr18:79411227 [GRCh38]
Chr18:77171227 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.1287G>C (p.Arg429=) single nucleotide variant not provided [RCV003563623] Chr18:79433639 [GRCh38]
Chr18:77193639 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.2289C>A (p.Gly763=) single nucleotide variant not provided [RCV003728414] Chr18:79486444 [GRCh38]
Chr18:77246444 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.597C>T (p.Ser199=) single nucleotide variant not provided [RCV003705350] Chr18:79410872 [GRCh38]
Chr18:77170872 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.1817A>G (p.Tyr606Cys) single nucleotide variant not provided [RCV003727550] Chr18:79451730 [GRCh38]
Chr18:77211730 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.127+4098_127+4106del deletion NFATC1-related condition [RCV003971909] Chr18:79400447..79400455 [GRCh38]
Chr18:77160447..77160455 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.1101G>A (p.Ala367=) single nucleotide variant NFATC1-related condition [RCV003914751] Chr18:79411376 [GRCh38]
Chr18:77171376 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.-16CGC[5] microsatellite NFATC1-related condition [RCV003941845] Chr18:79396207..79396208 [GRCh38]
Chr18:77156207..77156208 [GRCh37]
Chr18:18q23		 benign
NM_001278669.2(NFATC1):c.2213C>A (p.Pro738His) single nucleotide variant NFATC1-related condition [RCV003957177] Chr18:79486368 [GRCh38]
Chr18:77246368 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.2349G>A (p.Pro783=) single nucleotide variant NFATC1-related condition [RCV003959830] Chr18:79486504 [GRCh38]
Chr18:77246504 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.1089G>A (p.Pro363=) single nucleotide variant NFATC1-related condition [RCV003929639] Chr18:79411364 [GRCh38]
Chr18:77171364 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.127+4036_127+4040dup duplication NFATC1-related condition [RCV003964204] Chr18:79400385..79400386 [GRCh38]
Chr18:77160385..77160386 [GRCh37]
Chr18:18q23		 benign
NM_001278669.2(NFATC1):c.2010C>T (p.Ser670=) single nucleotide variant NFATC1-related condition [RCV003934126] Chr18:79467500 [GRCh38]
Chr18:77227500 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.213C>T (p.Asn71=) single nucleotide variant NFATC1-related condition [RCV003934198] Chr18:79410488 [GRCh38]
Chr18:77170488 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.1825G>A (p.Val609Met) single nucleotide variant NFATC1-related condition [RCV003934216] Chr18:79451738 [GRCh38]
Chr18:77211738 [GRCh37]
Chr18:18q23		 likely benign
NM_001278669.2(NFATC1):c.292G>T (p.Ala98Ser) single nucleotide variant NFATC1-related condition [RCV003944480] Chr18:79410567 [GRCh38]
Chr18:77170567 [GRCh37]
Chr18:18q23		 uncertain significance
NM_001278669.2(NFATC1):c.2318C>G (p.Pro773Arg) single nucleotide variant Inborn genetic diseases [RCV003356973] Chr18:79486473 [GRCh38]
Chr18:77246473 [GRCh37]
Chr18:18q23		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7207
Count of miRNA genes:1151
Interacting mature miRNAs:1438
Transcripts:ENST00000253506, ENST00000318065, ENST00000329101, ENST00000397790, ENST00000427363, ENST00000542384, ENST00000545796, ENST00000586434, ENST00000586695, ENST00000587635, ENST00000590172, ENST00000590224, ENST00000590313, ENST00000590861, ENST00000591065, ENST00000591089, ENST00000591814, ENST00000592223
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D18S1095  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371877,248,232 - 77,248,464UniSTSGRCh37
Build 361875,349,220 - 75,349,452RGDNCBI36
Celera1874,020,798 - 74,021,028RGD
Cytogenetic Map18q23UniSTS
Cytogenetic Map16q22.1UniSTS
HuRef1873,874,548 - 73,874,766UniSTS
Marshfield Genetic Map18124.11RGD
Marshfield Genetic Map18124.11UniSTS
Genethon Genetic Map18121.9UniSTS
RH91458  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371877,289,002 - 77,289,125UniSTSGRCh37
Build 361875,389,990 - 75,390,113RGDNCBI36
Celera1874,061,366 - 74,061,489RGD
Cytogenetic Map18q23UniSTS
HuRef1873,914,316 - 73,914,439UniSTS
GeneMap99-GB4 RH Map18477.49UniSTS
GDB:555590  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371877,227,701 - 77,227,950UniSTSGRCh37
Build 361875,328,689 - 75,328,938RGDNCBI36
Celera1874,000,294 - 74,000,543RGD
Cytogenetic Map18q23UniSTS
HuRef1873,854,043 - 73,854,292UniSTS
SHGC-132069  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371877,227,692 - 77,227,981UniSTSGRCh37
Build 361875,328,680 - 75,328,969RGDNCBI36
Celera1874,000,285 - 74,000,574RGD
Cytogenetic Map18q23UniSTS
HuRef1873,854,034 - 73,854,323UniSTS
TNG Radiation Hybrid Map1833200.0UniSTS
D18S1221  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371877,227,700 - 77,227,930UniSTSGRCh37
Build 361875,328,688 - 75,328,918RGDNCBI36
Celera1874,000,293 - 74,000,523RGD
Cytogenetic Map18q23UniSTS
HuRef1873,854,042 - 73,854,272UniSTS
Stanford-G3 RH Map183280.0UniSTS
GeneMap99-G3 RH Map183280.0UniSTS
STS-U08015  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371877,227,581 - 77,227,716UniSTSGRCh37
Build 361875,328,569 - 75,328,704RGDNCBI36
Celera1874,000,174 - 74,000,309RGD
Cytogenetic Map18q23UniSTS
HuRef1873,853,923 - 73,854,058UniSTS
GeneMap99-GB4 RH Map18477.39UniSTS
STS-T92423  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371877,157,478 - 77,157,558UniSTSGRCh37
Build 361875,258,466 - 75,258,546RGDNCBI36
Celera1873,930,813 - 73,930,893RGD
Cytogenetic Map18q23UniSTS
HuRef1873,784,755 - 73,784,835UniSTS
GeneMap99-GB4 RH Map18488.1UniSTS
NFATC1_4134  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371877,227,508 - 77,228,231UniSTSGRCh37
Build 361875,328,496 - 75,329,219RGDNCBI36
Celera1874,000,101 - 74,000,824RGD
HuRef1873,853,850 - 73,854,573UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 370 899 130 7 869 4 1947 653 607 22 275 451 8 395 1564
Low 2016 2082 1516 543 1057 385 2402 1538 2987 382 1169 1109 165 1 809 1224 5 2
Below cutoff 32 10 70 70 18 70 7 4 119 14 12 29 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_172387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_172388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_172389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_172390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA621079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA679278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC018445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC023090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW014910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC045628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF515172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU887559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU887560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU887561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU887562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU887563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU887564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU887565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU887566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI574302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI574304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI574306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI574308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI574310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY039825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT585034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U08015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U59736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U80917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U80918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U80919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X99829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000253506   ⟹   ENSP00000253506
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1879,395,856 - 79,529,325 (+)Ensembl
RefSeq Acc Id: ENST00000318065   ⟹   ENSP00000316553
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1879,400,322 - 79,529,323 (+)Ensembl
RefSeq Acc Id: ENST00000329101   ⟹   ENSP00000327850
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1879,400,336 - 79,529,323 (+)Ensembl
RefSeq Acc Id: ENST00000397790   ⟹   ENSP00000380892
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1879,395,944 - 79,529,323 (+)Ensembl
RefSeq Acc Id: ENST00000427363   ⟹   ENSP00000389377
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1879,395,930 - 79,529,323 (+)Ensembl
RefSeq Acc Id: ENST00000542384   ⟹   ENSP00000442435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1879,396,225 - 79,527,577 (+)Ensembl
RefSeq Acc Id: ENST00000545796   ⟹   ENSP00000439992
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1879,400,274 - 79,529,323 (+)Ensembl
RefSeq Acc Id: ENST00000586434   ⟹   ENSP00000466489
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1879,400,392 - 79,527,577 (+)Ensembl
RefSeq Acc Id: ENST00000586695
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1879,527,119 - 79,528,578 (+)Ensembl
RefSeq Acc Id: ENST00000587635   ⟹   ENSP00000468111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1879,396,131 - 79,467,676 (+)Ensembl
RefSeq Acc Id: ENST00000590172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1879,523,924 - 79,529,083 (+)Ensembl
RefSeq Acc Id: ENST00000590224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1879,448,270 - 79,451,068 (+)Ensembl
RefSeq Acc Id: ENST00000590313   ⟹   ENSP00000467615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1879,400,331 - 79,527,741 (+)Ensembl
RefSeq Acc Id: ENST00000590861
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1879,493,396 - 79,527,665 (+)Ensembl
RefSeq Acc Id: ENST00000591065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1879,448,572 - 79,451,068 (+)Ensembl
RefSeq Acc Id: ENST00000591089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1879,451,079 - 79,452,131 (+)Ensembl
RefSeq Acc Id: ENST00000591814   ⟹   ENSP00000466194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1879,395,930 - 79,470,014 (+)Ensembl
RefSeq Acc Id: ENST00000592223   ⟹   ENSP00000467181
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1879,400,333 - 79,468,001 (+)Ensembl
RefSeq Acc Id: NM_001278669   ⟹   NP_001265598
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381879,395,930 - 79,529,323 (+)NCBI
HuRef1873,783,058 - 73,914,637 (+)NCBI
CHM1_11877,150,992 - 77,284,501 (+)NCBI
T2T-CHM13v2.01879,649,928 - 79,782,943 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278670   ⟹   NP_001265599
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381879,395,930 - 79,529,323 (+)NCBI
HuRef1873,783,058 - 73,914,637 (+)NCBI
CHM1_11877,150,992 - 77,284,501 (+)NCBI
T2T-CHM13v2.01879,649,928 - 79,782,943 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278672   ⟹   NP_001265601
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381879,400,299 - 79,529,323 (+)NCBI
HuRef1873,783,058 - 73,914,637 (+)NCBI
CHM1_11877,155,554 - 77,284,501 (+)NCBI
T2T-CHM13v2.01879,654,296 - 79,782,943 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278673   ⟹   NP_001265602
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381879,400,299 - 79,529,323 (+)NCBI
HuRef1873,783,058 - 73,914,637 (+)NCBI
CHM1_11877,155,554 - 77,284,501 (+)NCBI
T2T-CHM13v2.01879,654,296 - 79,782,943 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278675   ⟹   NP_001265604
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381879,400,299 - 79,470,015 (+)NCBI
GRCh371877,155,772 - 77,289,323 (+)NCBI
HuRef1873,783,058 - 73,914,637 (+)NCBI
CHM1_11877,155,554 - 77,222,323 (+)NCBI
T2T-CHM13v2.01879,654,296 - 79,723,692 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006162   ⟹   NP_006153
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381879,395,930 - 79,529,323 (+)NCBI
GRCh371877,155,772 - 77,289,323 (+)ENTREZGENE
GRCh371877,155,772 - 77,289,323 (+)NCBI
Build 361875,256,760 - 75,390,311 (+)NCBI Archive
HuRef1873,783,058 - 73,914,637 (+)ENTREZGENE
CHM1_11877,150,992 - 77,284,501 (+)NCBI
T2T-CHM13v2.01879,649,928 - 79,782,943 (+)NCBI
Sequence:
RefSeq Acc Id: NM_172387   ⟹   NP_765975
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381879,400,299 - 79,529,323 (+)NCBI
GRCh371877,155,772 - 77,289,323 (+)ENTREZGENE
GRCh371877,155,772 - 77,289,323 (+)NCBI
Build 361875,261,314 - 75,390,311 (+)NCBI Archive
HuRef1873,783,058 - 73,914,637 (+)ENTREZGENE
CHM1_11877,155,554 - 77,284,501 (+)NCBI
T2T-CHM13v2.01879,654,296 - 79,782,943 (+)NCBI
Sequence:
RefSeq Acc Id: NM_172388   ⟹   NP_765976
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381879,395,930 - 79,529,323 (+)NCBI
GRCh371877,155,772 - 77,289,323 (+)ENTREZGENE
GRCh371877,155,772 - 77,289,323 (+)NCBI
Build 361875,256,760 - 75,390,311 (+)NCBI Archive
HuRef1873,783,058 - 73,914,637 (+)ENTREZGENE
CHM1_11877,150,992 - 77,284,501 (+)NCBI
T2T-CHM13v2.01879,649,928 - 79,782,943 (+)NCBI
Sequence:
RefSeq Acc Id: NM_172389   ⟹   NP_765977
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381879,400,299 - 79,529,323 (+)NCBI
GRCh371877,155,772 - 77,289,323 (+)ENTREZGENE
GRCh371877,155,772 - 77,289,323 (+)NCBI
Build 361875,261,314 - 75,390,311 (+)NCBI Archive
HuRef1873,783,058 - 73,914,637 (+)ENTREZGENE
CHM1_11877,155,554 - 77,284,501 (+)NCBI
T2T-CHM13v2.01879,654,296 - 79,782,943 (+)NCBI
Sequence:
RefSeq Acc Id: NM_172390   ⟹   NP_765978
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381879,395,930 - 79,470,015 (+)NCBI
GRCh371877,155,772 - 77,289,323 (+)ENTREZGENE
GRCh371877,155,772 - 77,289,323 (+)NCBI
Build 361875,256,760 - 75,329,165 (+)NCBI Archive
HuRef1873,783,058 - 73,914,637 (+)ENTREZGENE
CHM1_11877,150,992 - 77,222,323 (+)NCBI
T2T-CHM13v2.01879,649,928 - 79,723,692 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025783   ⟹   XP_016881272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381879,395,930 - 79,470,015 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047437538   ⟹   XP_047293494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381879,400,299 - 79,470,015 (+)NCBI
RefSeq Acc Id: XM_054318662   ⟹   XP_054174637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01879,649,928 - 79,723,692 (+)NCBI
RefSeq Acc Id: XM_054318663   ⟹   XP_054174638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01879,654,296 - 79,723,692 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001265598 (Get FASTA)   NCBI Sequence Viewer  
  NP_001265599 (Get FASTA)   NCBI Sequence Viewer  
  NP_001265601 (Get FASTA)   NCBI Sequence Viewer  
  NP_001265602 (Get FASTA)   NCBI Sequence Viewer  
  NP_001265604 (Get FASTA)   NCBI Sequence Viewer  
  NP_006153 (Get FASTA)   NCBI Sequence Viewer  
  NP_765975 (Get FASTA)   NCBI Sequence Viewer  
  NP_765976 (Get FASTA)   NCBI Sequence Viewer  
  NP_765977 (Get FASTA)   NCBI Sequence Viewer  
  NP_765978 (Get FASTA)   NCBI Sequence Viewer  
  XP_016881272 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293494 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174637 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174638 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA19601 (Get FASTA)   NCBI Sequence Viewer  
  AAC50869 (Get FASTA)   NCBI Sequence Viewer  
  AAD00450 (Get FASTA)   NCBI Sequence Viewer  
  AAD00451 (Get FASTA)   NCBI Sequence Viewer  
  AAD00452 (Get FASTA)   NCBI Sequence Viewer  
  AAI04754 (Get FASTA)   NCBI Sequence Viewer  
  AAI12244 (Get FASTA)   NCBI Sequence Viewer  
  ACG55579 (Get FASTA)   NCBI Sequence Viewer  
  ACG55580 (Get FASTA)   NCBI Sequence Viewer  
  ACG55581 (Get FASTA)   NCBI Sequence Viewer  
  ACG55582 (Get FASTA)   NCBI Sequence Viewer  
  ACG55583 (Get FASTA)   NCBI Sequence Viewer  
  ACG55584 (Get FASTA)   NCBI Sequence Viewer  
  ACG55585 (Get FASTA)   NCBI Sequence Viewer  
  ACG55586 (Get FASTA)   NCBI Sequence Viewer  
  BAF85330 (Get FASTA)   NCBI Sequence Viewer  
  BAG57179 (Get FASTA)   NCBI Sequence Viewer  
  CAA68146 (Get FASTA)   NCBI Sequence Viewer  
  CBX47640 (Get FASTA)   NCBI Sequence Viewer  
  CBX47641 (Get FASTA)   NCBI Sequence Viewer  
  CBX47642 (Get FASTA)   NCBI Sequence Viewer  
  CBX47643 (Get FASTA)   NCBI Sequence Viewer  
  CBX47644 (Get FASTA)   NCBI Sequence Viewer  
  EAW66617 (Get FASTA)   NCBI Sequence Viewer  
  EAW66618 (Get FASTA)   NCBI Sequence Viewer  
  EAW66619 (Get FASTA)   NCBI Sequence Viewer  
  EAW66620 (Get FASTA)   NCBI Sequence Viewer  
  EAW66621 (Get FASTA)   NCBI Sequence Viewer  
  EAW66622 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000253506
  ENSP00000253506.5
  ENSP00000316553
  ENSP00000316553.5
  ENSP00000327850
  ENSP00000327850.3
  ENSP00000380892
  ENSP00000380892.2
  ENSP00000389377
  ENSP00000389377.2
  ENSP00000439992
  ENSP00000439992.1
  ENSP00000442435
  ENSP00000442435.1
  ENSP00000466194
  ENSP00000466194.1
  ENSP00000466489
  ENSP00000466489.1
  ENSP00000467181
  ENSP00000467181.1
  ENSP00000467615.1
  ENSP00000468111.1
GenBank Protein O95644 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_006153   ⟸   NM_006162
- Peptide Label: isoform B
- UniProtKB: A8K9C6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_765976   ⟸   NM_172388
- Peptide Label: isoform D
- UniProtKB: O95644 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_765978   ⟸   NM_172390
- Peptide Label: isoform A
- UniProtKB: A8K9C6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_765975   ⟸   NM_172387
- Peptide Label: isoform C
- UniProtKB: O95644 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_765977   ⟸   NM_172389
- Peptide Label: isoform E
- UniProtKB: A8K9C6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265598   ⟸   NM_001278669
- Peptide Label: isoform F
- UniProtKB: Q15793 (UniProtKB/Swiss-Prot),   Q12865 (UniProtKB/Swiss-Prot),   B5B2N1 (UniProtKB/Swiss-Prot),   B5B2M9 (UniProtKB/Swiss-Prot),   B5B2M8 (UniProtKB/Swiss-Prot),   B5B2M7 (UniProtKB/Swiss-Prot),   B5B2M6 (UniProtKB/Swiss-Prot),   B5B2M5 (UniProtKB/Swiss-Prot),   B5B2M4 (UniProtKB/Swiss-Prot),   Q2M1S3 (UniProtKB/Swiss-Prot),   O95644 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001265599   ⟸   NM_001278670
- Peptide Label: isoform G
- UniProtKB: A8K9C6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265601   ⟸   NM_001278672
- Peptide Label: isoform H
- UniProtKB: A8K9C6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265604   ⟸   NM_001278675
- Peptide Label: isoform I
- UniProtKB: A8K9C6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265602   ⟸   NM_001278673
- Peptide Label: isoform J
- UniProtKB: B4DER8 (UniProtKB/TrEMBL),   F5H4S8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016881272   ⟸   XM_017025783
- Peptide Label: isoform X1
- UniProtKB: A8K9C6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000442435   ⟸   ENST00000542384
RefSeq Acc Id: ENSP00000253506   ⟸   ENST00000253506
RefSeq Acc Id: ENSP00000389377   ⟸   ENST00000427363
RefSeq Acc Id: ENSP00000439992   ⟸   ENST00000545796
RefSeq Acc Id: ENSP00000466489   ⟸   ENST00000586434
RefSeq Acc Id: ENSP00000468111   ⟸   ENST00000587635
RefSeq Acc Id: ENSP00000327850   ⟸   ENST00000329101
RefSeq Acc Id: ENSP00000467615   ⟸   ENST00000590313
RefSeq Acc Id: ENSP00000466194   ⟸   ENST00000591814
RefSeq Acc Id: ENSP00000467181   ⟸   ENST00000592223
RefSeq Acc Id: ENSP00000316553   ⟸   ENST00000318065
RefSeq Acc Id: ENSP00000380892   ⟸   ENST00000397790
RefSeq Acc Id: XP_047293494   ⟸   XM_047437538
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054174637   ⟸   XM_054318662
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054174638   ⟸   XM_054318663
- Peptide Label: isoform X2
Protein Domains
RHD

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95644-F1-model_v2 AlphaFold O95644 1-943 view protein structure

Promoters
RGD ID:6794946
Promoter ID:HG_KWN:28271
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:NM_172388,   NM_172390,   OTTHUMT00000256398
Position:
Human AssemblyChrPosition (strand)Source
Build 361875,255,891 - 75,257,022 (+)MPROMDB
RGD ID:6794945
Promoter ID:HG_KWN:28272
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:NM_172387,   NM_172389,   OTTHUMT00000256400
Position:
Human AssemblyChrPosition (strand)Source
Build 361875,260,466 - 75,261,547 (+)MPROMDB
RGD ID:6794826
Promoter ID:HG_KWN:28273
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000397794
Position:
Human AssemblyChrPosition (strand)Source
Build 361875,271,196 - 75,271,696 (+)MPROMDB
RGD ID:6811440
Promoter ID:HG_ACW:38858
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:NFATC1.KAPR07-UNSPLICED,   NFATC1.OAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361875,354,426 - 75,354,926 (+)MPROMDB
RGD ID:6811442
Promoter ID:HG_ACW:38864
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NFATC1.NAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361875,384,946 - 75,385,446 (+)MPROMDB
RGD ID:6815235
Promoter ID:HG_MRA:7570
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:BC033848
Position:
Human AssemblyChrPosition (strand)Source
Build 361875,389,711 - 75,390,211 (+)MPROMDB
RGD ID:7237639
Promoter ID:EPDNEW_H24565
Type:initiation region
Name:NFATC1_1
Description:nuclear factor of activated T-cells 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24566  EPDNEW_H24567  EPDNEW_H24569  EPDNEW_H24570  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381879,395,930 - 79,395,990EPDNEW
RGD ID:7237641
Promoter ID:EPDNEW_H24566
Type:initiation region
Name:NFATC1_3
Description:nuclear factor of activated T-cells 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24565  EPDNEW_H24567  EPDNEW_H24569  EPDNEW_H24570  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381879,396,187 - 79,396,247EPDNEW
RGD ID:7237643
Promoter ID:EPDNEW_H24567
Type:initiation region
Name:NFATC1_5
Description:nuclear factor of activated T-cells 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24565  EPDNEW_H24566  EPDNEW_H24569  EPDNEW_H24570  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381879,396,309 - 79,396,369EPDNEW
RGD ID:7237645
Promoter ID:EPDNEW_H24569
Type:initiation region
Name:NFATC1_2
Description:nuclear factor of activated T-cells 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24565  EPDNEW_H24566  EPDNEW_H24567  EPDNEW_H24570  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381879,400,329 - 79,400,389EPDNEW
RGD ID:7237649
Promoter ID:EPDNEW_H24570
Type:initiation region
Name:NFATC1_4
Description:nuclear factor of activated T-cells 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24565  EPDNEW_H24566  EPDNEW_H24567  EPDNEW_H24569  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381879,400,449 - 79,400,509EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7775 AgrOrtholog
COSMIC NFATC1 COSMIC
Ensembl Genes ENSG00000131196 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000253506 ENTREZGENE
  ENST00000253506.9 UniProtKB/Swiss-Prot
  ENST00000318065 ENTREZGENE
  ENST00000318065.9 UniProtKB/Swiss-Prot
  ENST00000329101 ENTREZGENE
  ENST00000329101.8 UniProtKB/Swiss-Prot
  ENST00000397790 ENTREZGENE
  ENST00000397790.6 UniProtKB/Swiss-Prot
  ENST00000427363 ENTREZGENE
  ENST00000427363.7 UniProtKB/Swiss-Prot
  ENST00000542384 ENTREZGENE
  ENST00000542384.5 UniProtKB/Swiss-Prot
  ENST00000545796 ENTREZGENE
  ENST00000545796.5 UniProtKB/TrEMBL
  ENST00000586434 ENTREZGENE
  ENST00000586434.1 UniProtKB/Swiss-Prot
  ENST00000587635.5 UniProtKB/TrEMBL
  ENST00000590313.5 UniProtKB/TrEMBL
  ENST00000591814 ENTREZGENE
  ENST00000591814.5 UniProtKB/Swiss-Prot
  ENST00000592223 ENTREZGENE
  ENST00000592223.5 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.340 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000131196 GTEx
HGNC ID HGNC:7775 ENTREZGENE
Human Proteome Map NFATC1 Human Proteome Map
InterPro Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_E-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IPT_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NFAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  p53-like_TF_DNA-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RHD_dimer UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RHD_DNA_bind_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RHD_DNA_bind_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4772 UniProtKB/Swiss-Prot
NCBI Gene 4772 ENTREZGENE
OMIM 600489 OMIM
PANTHER PTHR12533 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12533:SF5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RHD_dimer UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RHD_DNA_bind UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31582 PharmGKB
PRINTS NUCFACTORATC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE REL_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IPT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49417 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81296 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K9C6 ENTREZGENE, UniProtKB/TrEMBL
  B4DER8 ENTREZGENE, UniProtKB/TrEMBL
  B5B2M4 ENTREZGENE
  B5B2M5 ENTREZGENE
  B5B2M6 ENTREZGENE
  B5B2M7 ENTREZGENE
  B5B2M8 ENTREZGENE
  B5B2M9 ENTREZGENE
  B5B2N1 ENTREZGENE
  F5H4S8 ENTREZGENE, UniProtKB/TrEMBL
  K7EQ04_HUMAN UniProtKB/TrEMBL
  K7ER53_HUMAN UniProtKB/TrEMBL
  L8ECN7_HUMAN UniProtKB/TrEMBL
  NFAC1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q12865 ENTREZGENE
  Q15793 ENTREZGENE
  Q2M1S3 ENTREZGENE
UniProt Secondary B5B2M4 UniProtKB/Swiss-Prot
  B5B2M5 UniProtKB/Swiss-Prot
  B5B2M6 UniProtKB/Swiss-Prot
  B5B2M7 UniProtKB/Swiss-Prot
  B5B2M8 UniProtKB/Swiss-Prot
  B5B2M9 UniProtKB/Swiss-Prot
  B5B2N1 UniProtKB/Swiss-Prot
  Q12865 UniProtKB/Swiss-Prot
  Q15793 UniProtKB/Swiss-Prot
  Q2M1S3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-12-19 NFATC1  nuclear factor of activated T cells 1  NFATC1  nuclear factor of activated T-cells 1  Symbol and/or name change 5135510 APPROVED
2016-03-28 NFATC1  nuclear factor of activated T-cells 1  NFATC1  nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1  Symbol and/or name change 5135510 APPROVED