NPPA (natriuretic peptide A) - Rat Genome Database

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Gene: NPPA (natriuretic peptide A) Homo sapiens
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Symbol: NPPA
Name: natriuretic peptide A
RGD ID: 730878
HGNC Page HGNC:7939
Description: Enables hormone receptor binding activity; neuropeptide hormone activity; and neuropeptide receptor binding activity. Involved in several processes, including negative regulation of signal transduction; positive regulation of heart contraction; and positive regulation of potassium ion transmembrane transport. Located in collagen-containing extracellular matrix. Part of protein-containing complex. Implicated in artery disease (multiple); heart conduction disease (multiple); and peritonitis. Biomarker of several diseases, including chronic kidney disease; diabetic retinopathy; heart disease (multiple); obesity; and renal hypertension.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ANF; ANP; ATFB6; atrial natriuretic factor; atrial natriuretic factor prohormone; atrial natriuretic peptide; atrial natriuretic peptide prohormone; atriopeptigen; atriopeptin; ATRST2; cardiodilatin; cardiodilatin-related peptide; cardionatrin; CDD; CDD-ANF; CDP; natriuretic peptide precursor A; natriuretic peptide precursor A variant 1; natriuretic peptides A; PND; preproANP; preproCDD-ANF; prepronatriodilatin; proANF; proANP
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38111,845,709 - 11,847,783 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl111,845,709 - 11,848,345 (-)EnsemblGRCh38hg38GRCh38
GRCh37111,905,766 - 11,907,840 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36111,828,363 - 11,830,422 (-)NCBINCBI36Build 36hg18NCBI36
Build 34111,840,041 - 11,842,101NCBI
Celera111,019,389 - 11,021,472 (-)NCBICelera
Cytogenetic Map1p36.22NCBI
HuRef111,060,823 - 11,062,905 (-)NCBIHuRef
CHM1_1111,893,660 - 11,895,736 (-)NCBICHM1_1
T2T-CHM13v2.0111,389,795 - 11,391,868 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute kidney failure  (EXP,ISO)
Acute Lung Injury  (IDA)
adenocarcinoma  (EXP)
aortic valve insufficiency  (EXP)
atrial standstill 1  (EXP)
atrial standstill 2  (IAGP)
brain ischemia  (IAGP)
Cardiac Arrhythmias  (IAGP)
Cardiomegaly  (EXP,ISO)
Charcot-Marie-Tooth disease type 2  (IAGP)
chromosome 1p36 deletion syndrome  (IAGP)
chronic kidney disease  (IEP)
congestive heart failure  (EXP,IEP,ISO)
Contrast-Induced Nephropathy  (IDA)
coronary artery disease  (IAGP)
coronary stenosis  (EXP)
Diabetic Cardiomyopathies  (ISO)
Diabetic Nephropathies  (IAGP,IEP,ISO)
diabetic retinopathy  (IEP)
Diaphragmatic Hernia  (EXP)
diastolic heart failure  (EXP)
dilated cardiomyopathy  (EXP,IEP)
Ehlers-Danlos syndrome kyphoscoliotic type 1  (IAGP)
Experimental Diabetes Mellitus  (ISO)
Familial Atrial Fibrillation 6  (EXP,IAGP)
genetic disease  (IAGP)
glomerulonephritis  (IEP)
heart disease  (IEP)
Hypercapnia  (EXP)
hypertension  (EXP,ISO,ISS)
hypertrophic cardiomyopathy  (ISO)
Hypotension  (EXP)
Hypoxia  (EXP)
intrinsic cardiomyopathy  (IEP)
Kidney Reperfusion Injury  (IDA)
Left Ventricular Hypertrophy  (EXP,ISO)
liver cirrhosis  (EXP)
Lung Neoplasms  (EXP)
melanoma  (EXP)
Metabolic Side Effects of Drugs and Substances  (ISO)
myocardial infarction  (EXP,IAGP,ISO)
Myocardial Ischemia  (EXP)
Neoplasm Metastasis  (EXP)
nephrosis  (ISO)
obesity  (IEP)
Pain  (EXP)
patent ductus arteriosus  (EXP)
peritonitis  (IDA)
Prostatic Neoplasms  (EXP)
pulmonary hypertension  (ISO)
renal hypertension  (EXP,IDA,IEP,ISO)
Right Ventricular Hypertrophy  (ISO)
Skin Neoplasms  (EXP)
small cell carcinoma  (EXP)
Stroke  (IAGP)
Transplant Rejection  (IDA)
type 2 diabetes mellitus  (ISO)
ureteral obstruction  (EXP,ISO)
Urination Disorders  (EXP)
vascular dementia  (IAGP)
Ventricular Remodeling  (EXP,ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(5Z,8Z,11Z,13E)-15-HETE  (EXP)
(R)-noradrenaline  (ISO)
1-octadec-9-enoylglycero-3-phosphate  (ISO)
11-deoxycorticosterone  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (EXP)
2-acetyloxy-4-(trifluoromethyl)benzoic acid  (ISO)
2-Hydroxy-4-trifluoromethyl benzoic acid  (ISO)
3',5'-cyclic GMP  (EXP,ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-iodobenzyl-5'-N-methylcarboxamidoadenosine  (ISO)
3-methylcholanthrene  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4'-epidoxorubicin  (EXP)
4,4'-sulfonyldiphenol  (ISO)
5-azacytidine  (ISO)
5-fluorouracil  (ISO)
8-(3-chlorostyryl)caffeine  (ISO)
8-(4-chlorophenylthio)-cGMP  (ISO)
acetic acid  (ISO)
aconitine  (ISO)
Aflatoxin B2 alpha  (EXP)
aldehydo-D-glucose  (ISO)
aldosterone  (EXP,ISO)
aldrithiol  (ISO)
all-trans-retinoic acid  (EXP)
alprenolol  (ISO)
amiodarone  (ISO)
amitrole  (ISO)
amlodipine  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
angiotensin II  (ISO)
argipressin  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
atenolol  (EXP)
atorvastatin calcium  (ISO)
atrazine  (EXP)
atropine  (ISO)
bellidifolin  (ISO)
benazepril  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (ISO)
betaxolol  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
BQ 123  (ISO)
bromochloroacetic acid  (ISO)
C60 fullerene  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
caffeine  (ISO)
calcitriol  (ISO)
candesartan  (ISO)
candoxatrilat  (ISO)
capsazepine  (ISO)
carbon monoxide  (ISO)
carvedilol  (EXP,ISO)
CGP 52608  (EXP)
CGS-21680  (ISO)
chelerythrine  (ISO)
choline  (ISO)
cilazapril monohydrate  (EXP)
clofibrate  (ISO)
clonidine  (ISO)
clonidine (amino form)  (ISO)
clonidine (imino form)  (ISO)
cobalt dichloride  (ISO)
cocaine  (EXP,ISO)
colforsin daropate hydrochloride  (ISO)
copper(II) sulfate  (EXP)
corticosterone  (ISO)
cortisol  (EXP)
cucurbitacin I  (ISO)
Cuprizon  (ISO)
curcumin  (ISO)
cyanamide  (ISO)
cyclosporin A  (ISO)
D-glucose  (ISO)
D-mannitol  (EXP)
dantrolene  (ISO)
daunorubicin  (ISO)
dexamethasone  (ISO)
dibutyl phthalate  (ISO)
diethylstilbestrol  (ISO)
digoxin  (ISO)
dimethylarsinic acid  (ISO)
dioxygen  (ISO)
doxorubicin  (EXP,ISO)
DPCPX  (ISO)
EC 3.4.15.1 (peptidyl-dipeptidase A) inhibitor  (EXP)
edaravone  (ISO)
ellagic acid  (ISO)
enalapril  (EXP,ISO)
ethanol  (ISO)
fasudil  (ISO)
felodipine  (EXP)
fenofibrate  (ISO)
fenvalerate  (ISO)
folic acid  (ISO)
fulvestrant  (EXP,ISO)
furosemide  (EXP)
gefitinib  (ISO)
gentamycin  (ISO)
glucose  (ISO)
glycerol  (EXP)
graphite  (ISO)
GSK2181236A  (ISO)
Guanabenz  (ISO)
GW 501516  (ISO)
haloperidol  (ISO)
HET0016  (ISO)
hydrogen peroxide  (ISO)
Ile(5)-angiotensin II  (ISO)
indinavir  (ISO)
indole-3-acetic acid  (ISO)
indometacin  (EXP,ISO)
indoxyl sulfate  (EXP,ISO)
irbesartan  (EXP)
isoprenaline  (EXP,ISO)
kenpaullone  (ISO)
KT 5720  (ISO)
L-methionine  (ISO)
labetalol  (EXP)
lamivudine  (ISO)
leptomycin B  (ISO)
lipopolysaccharide  (ISO)
lisinopril dihydrate  (EXP)
losartan  (ISO)
lovastatin  (ISO)
LY294002  (ISO)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
manidipine  (ISO)
mercury dichloride  (ISO)
Mesaconitine  (ISO)
metformin  (ISO)
metoprolol  (ISO)
mevalonic acid  (ISO)
mifepristone  (ISO)
milrinone  (ISO)
monocrotaline  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (ISO)
naloxone  (EXP)
nifedipine  (ISO)
nitric oxide  (ISO)
nitrofen  (ISO)
NSC 23766  (ISO)
ochratoxin A  (ISO)
omapatrilat  (EXP)
ouabain  (ISO)
paricalcitol  (ISO)
pentobarbital  (ISO)
phenformin  (ISO)
phenylephrine  (EXP,ISO)
phorbol 13-acetate 12-myristate  (ISO)
pirinixic acid  (ISO)
Plantamajoside  (ISO)
prazosin  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP,ISO)
propofol  (ISO)
propranolol  (ISO)
prostaglandin E1  (EXP)
prostaglandin E2  (ISO)
pyrrolidine dithiocarbamate  (ISO)
quercetin  (ISO)
quinapril hydrochloride  (ISO)
resveratrol  (EXP,ISO)
ruthenium red  (ISO)
S-nitroso-N-acetyl-D-penicillamine  (ISO)
SB 203580  (ISO)
sildenafil citrate  (ISO)
simvastatin  (ISO)
sirolimus  (ISO)
sodium arsenite  (ISO)
sodium chloride  (ISO)
spermine  (ISO)
spironolactone  (EXP,ISO)
staurosporine  (ISO)
streptozocin  (ISO)
sulforaphane  (ISO)
sunitinib  (ISO)
tacrolimus hydrate  (ISO)
tetrachloromethane  (ISO)
Theaflavin 3,3'-digallate  (ISO)
thymoquinone  (ISO)
titanium dioxide  (ISO)
torasemide  (ISO)
trans-cinnamic acid  (ISO)
trans-piceid  (ISO)
trichloroethene  (ISO)
trichostatin A  (ISO)
tropan-3alpha-yl 3-hydroxy-2-phenylpropanoate  (ISO)
tunicamycin  (EXP)
tyrphostin AG 1478  (ISO)
U-73122  (ISO)
urethane  (EXP)
UTP  (ISO)
valproic acid  (EXP,ISO)
valsartan  (ISO)
verapamil  (EXP)
Vinpocetine  (ISO)
xestospongin C  (ISO)
Y-27632  (ISO)
zidovudine  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
aortic valve morphogenesis  (TAS)
blood vessel diameter maintenance  (IEA)
cardiac conduction system development  (NAS)
cardiac muscle hypertrophy in response to stress  (IEA,ISO)
cell growth involved in cardiac muscle cell development  (ISO)
cellular response to angiotensin  (ISO)
cellular response to hydrogen peroxide  (ISO)
cellular response to mechanical stimulus  (ISO)
cGMP biosynthetic process  (IBA,IDA,ISO)
cGMP-mediated signaling  (IBA,ISO)
female pregnancy  (IEA,ISS)
negative regulation of blood pressure  (IEA,ISO)
negative regulation of canonical Wnt signaling pathway  (IDA)
negative regulation of cell growth  (ISO)
negative regulation of collecting lymphatic vessel constriction  (ISO)
negative regulation of epidermal growth factor receptor signaling pathway  (IDA)
negative regulation of JUN kinase activity  (IDA)
negative regulation of systemic arterial blood pressure  (IBA,ISO)
neuropeptide signaling pathway  (IBA,IDA)
positive regulation of cardiac muscle contraction  (IMP)
positive regulation of cGMP-mediated signaling  (ISO)
positive regulation of delayed rectifier potassium channel activity  (IDA)
positive regulation of heart rate  (IMP)
positive regulation of histamine secretion by mast cell  (ISO)
positive regulation of potassium ion export across plasma membrane  (IDA)
protein folding  (IDA)
receptor guanylyl cyclase signaling pathway  (IBA,IDA,ISO)
regulation of atrial cardiac muscle cell membrane repolarization  (IMP)
regulation of blood pressure  (IDA,IEA)
regulation of calcium ion transmembrane transport via high voltage-gated calcium channel  (ISS)
regulation of high voltage-gated calcium channel activity  (ISS)
response to 3-methylcholanthrene  (ISO)
response to hypoxia  (ISO)
response to insulin  (ISO)
response to muscle stretch  (TAS)
signal transduction  (IEA)
sodium ion export across plasma membrane  (IEA,ISO)
synaptic signaling via neuropeptide  (ISO)
system process  (IEA)
vasodilation  (IEA)

Cellular Component

Molecular Function

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

Human Phenotype
Abnormal heart morphology  (IAGP)
Abnormal P wave  (IAGP)
Absent P wave  (IAGP)
Aphasia  (IAGP)
Arrhythmia  (IAGP)
Atrial arrhythmia  (IAGP)
Atrial cardiomyopathy  (IAGP)
Atrial fibrillation  (IAGP)
Atrial standstill  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bradycardia  (IAGP)
Cardiac conduction abnormality  (IAGP)
Cardiomyopathy  (IAGP)
Chest pain  (IAGP)
Congestive heart failure  (IAGP)
Diabetes mellitus  (IAGP)
Dilatation of the ventricular cavity  (IAGP)
Dysarthria  (IAGP)
Dyspnea  (IAGP)
Elevated diastolic blood pressure  (IAGP)
Elevated left ventricular end-diastolic diameter  (IAGP)
Elevated systolic blood pressure  (IAGP)
Exercise intolerance  (IAGP)
Fatigue  (IAGP)
Flexion contracture  (IAGP)
Headache  (IAGP)
Hemiplegia  (IAGP)
Hyperpepsinogenemia I  (IAGP)
Increased body mass index  (IAGP)
Increased circulating A-type natriuretic peptide concentration  (IAGP)
Increased circulating troponin T concentration  (IAGP)
Ischemic stroke  (IAGP)
Left atrial enlargement  (IAGP)
Left ventricular hypertrophy  (IAGP)
Left ventricular noncompaction  (IAGP)
Middle age onset  (IAGP)
Mobitz I atrioventricular block  (IAGP)
Muscular dystrophy  (IAGP)
Myocardial infarction  (IAGP)
Nausea  (IAGP)
Palpitations  (IAGP)
Postexertional symptom exacerbation  (IAGP)
Reduced left ventricular ejection fraction  (IAGP)
Right bundle branch block  (IAGP)
Scarring  (IAGP)
Sick sinus syndrome  (IAGP)
Skeletal muscle atrophy  (IAGP)
Stroke  (IAGP)
Syncope  (IAGP)
Thromboembolic stroke  (IAGP)
Thromboembolism  (IAGP)
Vascular dilatation  (IAGP)
Ventricular escape rhythm  (IAGP)
Ventricular hypertrophy  (IAGP)
Ventricular tachycardia  (IAGP)
Vertigo  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. 3-methylcholanthrene and benzo(a)pyrene modulate cardiac cytochrome P450 gene expression and arachidonic acid metabolism in male Sprague Dawley rats. Aboutabl ME, etal., Br J Pharmacol. 2009 Dec;158(7):1808-19. doi: 10.1111/j.1476-5381.2009.00461.x.
2. Ultrastructural changes, increased oxidative stress, inflammation, and altered cardiac hypertrophic gene expressions in heart tissues of rats exposed to incense smoke. Al-Attas OS, etal., Environ Sci Pollut Res Int. 2015 Jul;22(13):10083-93. doi: 10.1007/s11356-015-4212-5. Epub 2015 Feb 18.
3. Signaling mechanisms of a water soluble curcumin derivative in experimental type 1 diabetes with cardiomyopathy. Aziz MT, etal., Diabetol Metab Syndr. 2013 Mar 12;5(1):13. doi: 10.1186/1758-5996-5-13.
4. Role of atrial natriuretic peptide in the suppression of lysophosphatydic acid-induced rat aortic smooth muscle (RASM) cell growth. Baldini PM, etal., Mol Cell Biochem. 2005 Apr;272(1-2):19-28.
5. Cardioprotective role of growth/differentiation factor 1 in post-infarction left ventricular remodelling and dysfunction. Bao MW, etal., J Pathol. 2015 Jul;236(3):360-72. doi: 10.1002/path.4523. Epub 2015 Mar 30.
6. ANP but not BNP reflects early left diastolic dysfunction in type 1 diabetics with myocardial dysinnervation. Bayerle-Eder M, etal., Horm Metab Res. 2003 May;35(5):301-7.
7. Ventricular function and natriuretic peptides in sequentially combined models of hypertension. Cavallero S, etal., Am J Physiol Heart Circ Physiol. 2010 Apr;298(4):H1290-9. doi: 10.1152/ajpheart.00911.2009. Epub 2010 Feb 5.
8. Encapsulated transgene cells attenuate hypertension, cardiac hypertrophy and enhance renal function in Goldblatt hypertensive rats. Chen LG, etal., J Gene Med. 2004 Jul;6(7):786-97.
9. Increased natriuretic peptide receptor A and C gene expression in rats with pressure-overload cardiac hypertrophy. Christoffersen TE, etal., Am J Physiol Heart Circ Physiol. 2006 Apr;290(4):H1635-41. Epub 2005 Nov 4.
10. Atrial natriuretic peptide enhances recovery from ischemia/reperfusion-induced renal injury in rats. Chujo K, etal., J Biosci Bioeng. 2010 Jun;109(6):526-30. doi: 10.1016/j.jbiosc.2009.11.021. Epub 2009 Dec 23.
11. Comparison of soluble guanylate cyclase stimulators and activators in models of cardiovascular disease associated with oxidative stress. Costell MH, etal., Front Pharmacol. 2012 Jul 5;3:128. doi: 10.3389/fphar.2012.00128. eCollection 2012.
12. Pro-A-type natriuretic peptide and pro-adrenomedullin predict progression of chronic kidney disease: the MMKD Study. Dieplinger B, etal., Kidney Int. 2009 Feb;75(4):408-14. doi: 10.1038/ki.2008.560. Epub 2008 Dec 3.
13. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
14. Association of the ScaI atrial natriuretic peptide gene polymorphism with nonfatal myocardial infarction and extent of coronary artery disease. Gruchala M, etal., Am Heart J. 2003 Jan;145(1):125-31.
15. [Effects of buyang huanwu decoction on the sarcoplasmic reticulum calcium uptake in abdominal aortic constriction induced myocardial hypertrophic rats]. Gu YP, etal., Zhongguo Zhong Xi Yi Jie He Za Zhi. 2013 May;33(5):627-31.
16. Downregulation of oxytocin and natriuretic peptides in diabetes: possible implications in cardiomyopathy. Gutkowska J, etal., J Physiol. 2009 Oct 1;587(Pt 19):4725-36. Epub 2009 Aug 12.
17. Atrial natriuretic peptide gene G664A polymorphism and the risk of ischemic cerebrovascular disease. Hassan A, etal., Neurology. 2001 Nov 13;57(9):1726-8.
18. Regional cardiac expression and concentration of natriuretic peptides in patients with severe chronic heart failure. Hystad ME, etal., Acta Physiol Scand. 2001 Apr;171(4):395-403.
19. The ubiquitin E3 ligase TRAF6 exacerbates pathological cardiac hypertrophy via TAK1-dependent signalling. Ji YX, etal., Nat Commun. 2016 Jun 1;7:11267. doi: 10.1038/ncomms11267.
20. Atrial natriuretic peptide attenuates the development of pulmonary hypertension in rats adapted to chronic hypoxia. Jin H, etal., J Clin Invest. 1990 Jan;85(1):115-20.
21. Effects of Atrial Natriuretic Peptide After Prolonged Hypothermic Storage of the Isolated Rat Heart. Kanamitsu H, etal., Artif Organs. 2013 Jul 4. doi: 10.1111/aor.12120.
22. Histone deacetylase inhibition improved cardiac functions with direct antifibrotic activity in heart failure. Kao YH, etal., Int J Cardiol. 2013 Aug 7. pii: S0167-5273(13)01322-3. doi: 10.1016/j.ijcard.2013.07.111.
23. Altered regulation of nitric oxide and natriuretic peptide system in cisplatin-induced nephropathy. Kim CS, etal., Regul Pept. 2012 Feb 10;174(1-3):65-70. doi: 10.1016/j.regpep.2011.12.001. Epub 2011 Dec 28.
24. Association of 2238T>C polymorphism of the atrial natriuretic peptide gene with coronary artery disease in Afro-Caribbeans with type 2 diabetes. Larifla L, etal., Am J Hypertens. 2012 May;25(5):524-7. doi: 10.1038/ajh.2011.233. Epub 2011 Dec 15.
25. Development of cardiac hypertrophy by sunitinib in vivo and in vitro rat cardiomyocytes is influenced by the aryl hydrocarbon receptor signaling pathway. Maayah ZH, etal., Arch Toxicol. 2014 Mar;88(3):725-38. doi: 10.1007/s00204-013-1159-5. Epub 2013 Nov 19.
26. Renal protective effects and the prevention of contrast-induced nephropathy by atrial natriuretic peptide. Morikawa S, etal., J Am Coll Cardiol. 2009 Mar 24;53(12):1040-6. doi: 10.1016/j.jacc.2008.10.061.
27. Increased human brain natriuretic peptide in congestive heart failure. Mukoyama M, etal., N Engl J Med. 1990 Sep 13;323(11):757-8.
28. NT-proANP and BNP in renovascular and in severe and mild essential hypertension. Mussalo H, etal., Kidney Blood Press Res. 2003;26(1):34-41.
29. The genetic contribution of the natriuretic peptide system to cardiovascular diseases. Nakayama T Endocr J. 2005 Feb;52(1):11-21.
30. Endothelin-1 in children with acute poststreptococcal glomerulonephritis and hypertension. Nicolaidou P, etal., Pediatr Int. 2003 Feb;45(1):35-8.
31. Natriuretic peptide/natriuretic peptide receptor-A (NPR-A) system has inhibitory effects in renal fibrosis in mice. Nishikimi T, etal., Regul Pept. 2009 Apr 10;154(1-3):44-53. doi: 10.1016/j.regpep.2009.02.006. Epub 2009 Feb 15.
32. Alterations in atrial natriuretic peptide and its receptor levels in long-term, streptozotocin-induced, diabetes in rats. Obineche E, etal., Ann N Y Acad Sci. 2006 Nov;1084:223-34.
33. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
34. Vitamin D receptor activation, left ventricular hypertrophy and myocardial fibrosis. Panizo S, etal., Nephrol Dial Transplant. 2013 Sep 7.
35. Circulating atrial natriuretic peptide genetic association study identifies a novel gene cluster associated with stroke in whites. Pereira NL, etal., Circ Cardiovasc Genet. 2015 Feb;8(1):141-9. doi: 10.1161/CIRCGENETICS.114.000624. Epub 2014 Dec 1.
36. Left ventricular SERCA2a gene down-regulation does not parallel ANP gene up-regulation during post-MI remodelling in rats. Prunier F, etal., Eur J Heart Fail. 2005 Aug;7(5):739-47.
37. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
38. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
39. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
40. Atrial natriuretic peptide in the vitreous humor and epiretinal membranes of patients with proliferative diabetic retinopathy. Rollin R, etal., Mol Vis. 2004 Jul 15;10:450-7.
41. Downregulation of the atrial natriuretic peptide/natriuretic peptide receptor-C system in the early stages of diabetic retinopathy in the rat. Rollin R, etal., Mol Vis. 2005 Mar 18;11:216-24.
42. Investigation of the human ANP gene in type 1 diabetic nephropathy: case-control and follow-up studies. Roussel R, etal., Diabetes. 2004 May;53(5):1394-8.
43. The gene encoding atrial natriuretic peptide and the risk of human stroke. Rubattu S, etal., Circulation. 1999 Oct 19;100(16):1722-6. doi: 10.1161/01.cir.100.16.1722.
44. Atrial natriuretic peptide gene polymorphisms and risk of ischemic stroke in humans. Rubattu S, etal., Stroke. 2004 Apr;35(4):814-8. Epub 2004 Mar 11.
45. A polymorphism in the gene for the atrial natriuretic peptide and diabetic nephropathy. Diabetic Nephropathy Study Group. Schmidt S, etal., Nephrol Dial Transplant. 1998 Jul;13(7):1807-10.
46. BMP type I receptor ALK2 is required for angiotensin II-induced cardiac hypertrophy. Shahid M, etal., Am J Physiol Heart Circ Physiol. 2016 Apr 15;310(8):H984-94. doi: 10.1152/ajpheart.00879.2015. Epub 2016 Feb 12.
47. Nuclear Translocation of Calpain-2 Mediates Apoptosis of Hypertrophied Cardiomyocytes in Transverse Aortic Constriction Rat. Sheng JJ, etal., J Cell Physiol. 2015 Nov;230(11):2743-54. doi: 10.1002/jcp.24999.
48. Elevated atrial natriuretic peptides and early renal failure in type 2 diabetic Goto-Kakizaki rats. Vesely DL, etal., Metabolism. 1999 Jun;48(6):771-8.
49. Inverse association of long-acting natriuretic peptide with metabolic syndrome in congestive heart failure patients. Wang JH, etal., Diabetol Metab Syndr. 2013 Apr 8;5(1):19. doi: 10.1186/1758-5996-5-19.
50. Atrial natriuretic peptides elevate cyclic GMP levels in primary cultures of rat ependymal cells. Wellard J, etal., Neurochem Res. 2003 Feb;28(2):225-33.
51. Plasma brain natriuretic peptide levels in normotensive noninsulin-dependent diabetic patients with microalbuminuria. Yano Y, etal., J Clin Endocrinol Metab. 1999 Jul;84(7):2353-6.
52. Cosegregation analysis of natriuretic peptide genes and blood pressure in the spontaneously hypertensive rat. Ye P and West MJ, Clin Exp Pharmacol Physiol 2003 Dec;30(12):930-6.
53. Increased plasma levels and effects of brain natriuretic peptide in experimental nephrosis. Yokota N, etal., Nephron. 1993;65(3):454-9.
54. Olmesartan attenuates cardiac remodeling through DLL4/Notch1 pathway activation in pressure overload mice. You J, etal., J Cardiovasc Pharmacol. 2013 Feb;61(2):142-51. doi: 10.1097/FJC.0b013e31827a0278.
55. Growth/differentiation factor 1 alleviates pressure overload-induced cardiac hypertrophy and dysfunction. Zhang Y, etal., Biochim Biophys Acta. 2014 Feb;1842(2):232-44. doi: 10.1016/j.bbadis.2013.11.018. Epub 2013 Nov 23.
56. Meis1 promotes poly (rC)-binding protein 2 expression and inhibits angiotensin II-induced cardiomyocyte hypertrophy. Zhang Y, etal., IUBMB Life. 2016 Jan;68(1):13-22. doi: 10.1002/iub.1456. Epub 2015 Nov 24.
57. Inhibition of CYP1B1 ameliorates cardiac hypertrophy induced by uremic toxin. Zhang Y, etal., Mol Med Rep. 2020 Jan;21(1):393-404. doi: 10.3892/mmr.2019.10810. Epub 2019 Nov 11.
58. Atrial natriuretic peptide attenuates inflammatory responses on oleic acid-induced acute lung injury model in rats. Zhu YB, etal., Chin Med J (Engl). 2013 Feb;126(4):747-50.
Additional References at PubMed
PMID:1309330   PMID:1660465   PMID:1672777   PMID:1826098   PMID:2169733   PMID:2531377   PMID:2934979   PMID:2972276   PMID:3158606   PMID:6095118   PMID:6095119   PMID:6097248  
PMID:6203042   PMID:6230082   PMID:6238331   PMID:6542248   PMID:6547996   PMID:7857923   PMID:8043577   PMID:8301666   PMID:9232196   PMID:10880574   PMID:11408388   PMID:11409652  
PMID:11447495   PMID:11884416   PMID:11985060   PMID:12052474   PMID:12082592   PMID:12102171   PMID:12135603   PMID:12145475   PMID:12190955   PMID:12193960   PMID:12270761   PMID:12477932  
PMID:12484513   PMID:12505872   PMID:12542678   PMID:12547834   PMID:12687344   PMID:12777209   PMID:12794112   PMID:12883099   PMID:12890912   PMID:12960255   PMID:14523183   PMID:14698679  
PMID:14718574   PMID:15033935   PMID:15118286   PMID:15276478   PMID:15489334   PMID:15542826   PMID:15604093   PMID:15648549   PMID:15666592   PMID:15837528   PMID:16100725   PMID:16113566  
PMID:16117728   PMID:16291573   PMID:16368448   PMID:16710414   PMID:16713569   PMID:16721833   PMID:16870210   PMID:16875975   PMID:16962475   PMID:17036337   PMID:17051589   PMID:17219958  
PMID:17243909   PMID:17259761   PMID:17292492   PMID:17460430   PMID:17525707   PMID:17580193   PMID:17584735   PMID:17672826   PMID:17693975   PMID:17702963   PMID:17890443   PMID:17890485  
PMID:17900714   PMID:17901852   PMID:17927564   PMID:17943627   PMID:17984371   PMID:18092954   PMID:18172431   PMID:18212314   PMID:18243818   PMID:18280250   PMID:18294255   PMID:18513389  
PMID:18539145   PMID:18614783   PMID:18633189   PMID:18660489   PMID:18713751   PMID:18759454   PMID:18855222   PMID:18989245   PMID:19008326   PMID:19046820   PMID:19086053   PMID:19131662  
PMID:19141362   PMID:19146799   PMID:19155075   PMID:19219041   PMID:19238444   PMID:19263529   PMID:19264973   PMID:19326473   PMID:19330901   PMID:19346663   PMID:19387964   PMID:19420105  
PMID:19430483   PMID:19458086   PMID:19479237   PMID:19559392   PMID:19564455   PMID:19578796   PMID:19597492   PMID:19635983   PMID:19646991   PMID:19666519   PMID:19671135   PMID:19702001  
PMID:19729120   PMID:19729601   PMID:19845278   PMID:19913121   PMID:19948975   PMID:20024606   PMID:20026756   PMID:20064500   PMID:20137368   PMID:20346360   PMID:20353436   PMID:20368210  
PMID:20407391   PMID:20416077   PMID:20452482   PMID:20453667   PMID:20530040   PMID:20536507   PMID:20543198   PMID:20577119   PMID:20628086   PMID:20673868   PMID:20680650   PMID:20700369  
PMID:20726994   PMID:20872251   PMID:20877298   PMID:21073007   PMID:21216831   PMID:21276088   PMID:21349128   PMID:21408188   PMID:21450637   PMID:21600847   PMID:21672517   PMID:21689370  
PMID:21734186   PMID:21741108   PMID:21744319   PMID:21757823   PMID:21798427   PMID:21873635   PMID:21881323   PMID:21892902   PMID:21952518   PMID:21992849   PMID:22112816   PMID:22113444  
PMID:22285803   PMID:22370591   PMID:22399583   PMID:22400494   PMID:22575314   PMID:22595807   PMID:22962310   PMID:22981931   PMID:23258247   PMID:23275345   PMID:23279037   PMID:23542086  
PMID:23637347   PMID:23690218   PMID:23749889   PMID:23799939   PMID:23867623   PMID:23905909   PMID:24030529   PMID:24041948   PMID:24101702   PMID:24166646   PMID:24220659   PMID:24315351  
PMID:24487939   PMID:24498905   PMID:24586593   PMID:24599027   PMID:24617620   PMID:24654911   PMID:24673969   PMID:24853905   PMID:24906365   PMID:24973596   PMID:25123163   PMID:25129277  
PMID:25252038   PMID:25371308   PMID:25400811   PMID:25401746   PMID:25416956   PMID:25864764   PMID:25917967   PMID:26074089   PMID:26200358   PMID:26244664   PMID:26499263   PMID:26616294  
PMID:26686590   PMID:26720342   PMID:26748496   PMID:26786210   PMID:26801306   PMID:26987266   PMID:27101535   PMID:27136577   PMID:27197849   PMID:27220692   PMID:27343265   PMID:27413750  
PMID:27559042   PMID:27846213   PMID:28076299   PMID:28096288   PMID:28195503   PMID:28229930   PMID:28252040   PMID:28338810   PMID:28431065   PMID:28456775   PMID:28514442   PMID:28630469  
PMID:28768468   PMID:29209941   PMID:29237677   PMID:29253899   PMID:29302701   PMID:29325903   PMID:29523263   PMID:29604419   PMID:30027789   PMID:30262711   PMID:31077706   PMID:31186350  
PMID:31269783   PMID:31341238   PMID:31350276   PMID:31477203   PMID:31503546   PMID:31521687   PMID:31830996   PMID:32126847   PMID:32296183   PMID:32380971   PMID:32649233   PMID:32702064  
PMID:32739718   PMID:32861716   PMID:32883357   PMID:33375031   PMID:33530911   PMID:33533684   PMID:33879148   PMID:33961781   PMID:34009197   PMID:34187182   PMID:34616853   PMID:34875662  
PMID:35393944   PMID:35586748   PMID:36336901   PMID:37099206   PMID:37417873   PMID:37913506  


Genomics

Comparative Map Data
NPPA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38111,845,709 - 11,847,783 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl111,845,709 - 11,848,345 (-)EnsemblGRCh38hg38GRCh38
GRCh37111,905,766 - 11,907,840 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36111,828,363 - 11,830,422 (-)NCBINCBI36Build 36hg18NCBI36
Build 34111,840,041 - 11,842,101NCBI
Celera111,019,389 - 11,021,472 (-)NCBICelera
Cytogenetic Map1p36.22NCBI
HuRef111,060,823 - 11,062,905 (-)NCBIHuRef
CHM1_1111,893,660 - 11,895,736 (-)NCBICHM1_1
T2T-CHM13v2.0111,389,795 - 11,391,868 (-)NCBIT2T-CHM13v2.0
Nppa
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394148,085,179 - 148,086,531 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4148,085,179 - 148,086,536 (+)EnsemblGRCm39 Ensembl
GRCm384148,000,722 - 148,002,074 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4148,000,722 - 148,002,079 (+)EnsemblGRCm38mm10GRCm38
MGSCv374147,374,855 - 147,376,176 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364146,844,546 - 146,845,867 (+)NCBIMGSCv36mm8
Celera4150,267,117 - 150,268,440 (+)NCBICelera
Cytogenetic Map4E1NCBI
cM Map478.66NCBI
Nppa
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85163,712,184 - 163,713,493 (+)NCBIGRCr8
mRatBN7.25158,429,042 - 158,430,351 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5158,429,042 - 158,430,351 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5161,145,793 - 161,147,102 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05162,973,730 - 162,975,039 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05162,930,077 - 162,931,386 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05164,808,407 - 164,809,716 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5164,808,323 - 164,809,705 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05168,466,309 - 168,467,618 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45165,074,518 - 165,075,827 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15165,084,713 - 165,086,000 (+)NCBI
Celera5156,710,885 - 156,712,194 (+)NCBICelera
RH 3.4 Map51106.6RGD
Cytogenetic Map5q36NCBI
Nppa
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554862,060,735 - 2,063,003 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554862,061,196 - 2,062,805 (+)NCBIChiLan1.0ChiLan1.0
NPPA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21216,375,951 - 216,382,131 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11215,021,064 - 215,023,807 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0110,608,025 - 10,610,287 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1111,825,072 - 11,827,452 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl111,825,072 - 11,827,373 (-)Ensemblpanpan1.1panPan2
NPPA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1284,406,317 - 84,408,115 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl284,396,073 - 84,408,385 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha280,939,561 - 80,941,359 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0285,071,241 - 85,073,039 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl285,060,271 - 85,073,309 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1281,819,847 - 81,821,645 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0282,819,771 - 82,821,568 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0283,882,545 - 83,884,343 (+)NCBIUU_Cfam_GSD_1.0
Nppa
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505834,846,575 - 34,848,291 (-)NCBIHiC_Itri_2
SpeTri2.0NW_004936474671,362 - 673,610 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NPPA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl671,918,845 - 71,921,405 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1671,919,557 - 71,921,345 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2665,829,057 - 65,830,990 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NPPA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120119,942,412 - 119,946,211 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl20119,944,532 - 119,945,917 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605423,811,217 - 23,814,235 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nppa
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248181,147,974 - 1,148,927 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248181,147,654 - 1,149,722 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NPPA
137 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006172.4(NPPA):c.198G>A (p.Pro66=) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000552907] Chr1:11847365 [GRCh38]
Chr1:11907422 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.197C>T (p.Pro66Leu) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000542702]|Atrial fibrillation, familial, 6 [RCV002483456]|Inborn genetic diseases [RCV004024094] Chr1:11847366 [GRCh38]
Chr1:11907423 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.123+16C>T single nucleotide variant Atrial fibrillation, familial, 6 [RCV002054513]|Cardiac arrhythmia [RCV001841539]|not provided [RCV001668143]|not specified [RCV000244593] Chr1:11847546 [GRCh38]
Chr1:11907603 [GRCh37]
Chr1:1p36.22		 benign
NM_006172.4(NPPA):c.456_*1del (p.Ter152TrpextTer?) deletion Atrial fibrillation, familial, 6 [RCV000019366] Chr1:11846008..11846009 [GRCh38]
Chr1:11906065..11906066 [GRCh37]
Chr1:1p36.22		 pathogenic
NM_006172.4(NPPA):c.190A>C (p.Ser64Arg) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000114741]|Atrial fibrillation, familial, 6 [RCV002498490]|not provided [RCV000857935]|not specified [RCV000780554] Chr1:11847373 [GRCh38]
Chr1:11907430 [GRCh37]
Chr1:1p36.22		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 1p36.22-36.21(chr1:11654070-12768656)x3 copy number gain See cases [RCV000051460] Chr1:11654070..12768656 [GRCh38]
Chr1:11714127..12828807 [GRCh37]
Chr1:11636714..12751394 [NCBI36]
Chr1:1p36.22-36.21		 uncertain significance
GRCh38/hg38 1p36.22(chr1:11737130-12169786)x3 copy number gain See cases [RCV000051461] Chr1:11737130..12169786 [GRCh38]
Chr1:11797187..12229843 [GRCh37]
Chr1:11719774..12152430 [NCBI36]
Chr1:1p36.22		 uncertain significance
GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3 copy number gain See cases [RCV000051794] Chr1:6652339..12724844 [GRCh38]
Chr1:6712399..12784811 [GRCh37]
Chr1:6634986..12707398 [NCBI36]
Chr1:1p36.31-36.21		 pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6853513-17326813)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|See cases [RCV000051795] Chr1:6853513..17326813 [GRCh38]
Chr1:6913573..17685411 [GRCh37]
Chr1:6836160..17557998 [NCBI36]
Chr1:1p36.31-36.13		 pathogenic
GRCh38/hg38 1p36.22(chr1:11684360-11885011)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053184]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053184]|See cases [RCV000053184] Chr1:11684360..11885011 [GRCh38]
Chr1:11744417..11945068 [GRCh37]
Chr1:11667004..11867655 [NCBI36]
Chr1:1p36.22		 uncertain significance
GRCh38/hg38 1p36.32-36.21(chr1:2963330-12666744)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|See cases [RCV000053713] Chr1:2963330..12666744 [GRCh38]
Chr1:2879895..12726755 [GRCh37]
Chr1:2869755..12649342 [NCBI36]
Chr1:1p36.32-36.21		 pathogenic
GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1 copy number loss See cases [RCV000053714] Chr1:3006193..17688934 [GRCh38]
Chr1:2922757..18015429 [GRCh37]
Chr1:2912617..17888016 [NCBI36]
Chr1:1p36.32-36.13		 pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1 copy number loss See cases [RCV000053724] Chr1:4898439..13111056 [GRCh38]
Chr1:4958499..13178528 [GRCh37]
Chr1:4858359..13101115 [NCBI36]
Chr1:1p36.32-36.21		 pathogenic
GRCh38/hg38 1p36.22-36.12(chr1:10556797-22557907)x1 copy number loss See cases [RCV000053760] Chr1:10556797..22557907 [GRCh38]
Chr1:10616854..22884400 [GRCh37]
Chr1:10539441..22756987 [NCBI36]
Chr1:1p36.22-36.12		 pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1 copy number loss See cases [RCV000053763] Chr1:10621776..16520709 [GRCh38]
Chr1:10681833..16847204 [GRCh37]
Chr1:10604420..16719791 [NCBI36]
Chr1:1p36.22-36.13		 pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1 copy number loss See cases [RCV000053765] Chr1:10809039..16422500 [GRCh38]
Chr1:10869096..16748995 [GRCh37]
Chr1:10791683..16621582 [NCBI36]
Chr1:1p36.22-36.13		 pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1 copy number loss See cases [RCV000053766] Chr1:11121625..16324498 [GRCh38]
Chr1:11181682..16650993 [GRCh37]
Chr1:11104269..16523580 [NCBI36]
Chr1:1p36.22-36.13		 pathogenic
GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1 copy number loss See cases [RCV000053755] Chr1:7165036..13111056 [GRCh38]
Chr1:7225096..13178528 [GRCh37]
Chr1:7147683..13101115 [NCBI36]
Chr1:1p36.23-36.21		 pathogenic
GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1 copy number loss See cases [RCV000053756] Chr1:9034671..16441465 [GRCh38]
Chr1:9094730..16767960 [GRCh37]
Chr1:9017317..16640547 [NCBI36]
Chr1:1p36.23-36.13		 pathogenic
GRCh38/hg38 1p36.22-36.21(chr1:9406722-12852772)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053757]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053757]|See cases [RCV000053757] Chr1:9406722..12852772 [GRCh38]
Chr1:9466781..12912625 [GRCh37]
Chr1:9389368..12835212 [NCBI36]
Chr1:1p36.22-36.21		 pathogenic
GRCh38/hg38 1p36.22(chr1:10203955-12060262)x1 copy number loss See cases [RCV000053758] Chr1:10203955..12060262 [GRCh38]
Chr1:10264013..12120319 [GRCh37]
Chr1:10186600..12042906 [NCBI36]
Chr1:1p36.22		 pathogenic
NM_006172.4(NPPA):c.449G>A (p.Arg150Gln) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001344090]|Atrial standstill 2 [RCV000114740]|not specified [RCV003155074] Chr1:11847114 [GRCh38]
Chr1:11907171 [GRCh37]
Chr1:1p36.22		 pathogenic|likely benign|uncertain significance
GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1 copy number loss See cases [RCV000133779] Chr1:9064492..12666744 [GRCh38]
Chr1:9124551..12726755 [GRCh37]
Chr1:9047138..12649342 [NCBI36]
Chr1:1p36.23-36.21		 pathogenic
GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1 copy number loss See cases [RCV000135807] Chr1:8283694..12470133 [GRCh38]
Chr1:8343754..12530188 [GRCh37]
Chr1:8266341..12452775 [NCBI36]
Chr1:1p36.23-36.22		 pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1 copy number loss See cases [RCV000136695] Chr1:844347..12470133 [GRCh38]
Chr1:779727..12530188 [GRCh37]
Chr1:769590..12452775 [NCBI36]
Chr1:1p36.33-36.22		 pathogenic|likely pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1 copy number loss See cases [RCV000137461] Chr1:4898439..12911913 [GRCh38]
Chr1:4958499..12971757 [GRCh37]
Chr1:4858359..12894344 [NCBI36]
Chr1:1p36.32-36.21		 pathogenic
GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1 copy number loss See cases [RCV000137948] Chr1:6303641..15799093 [GRCh38]
Chr1:6363701..16125588 [GRCh37]
Chr1:6286288..15998175 [NCBI36]
Chr1:1p36.31-36.21		 pathogenic|likely benign
GRCh38/hg38 1p36.22(chr1:11737130-12006139)x3 copy number gain See cases [RCV000139615] Chr1:11737130..12006139 [GRCh38]
Chr1:11797187..12066196 [GRCh37]
Chr1:11719774..11988783 [NCBI36]
Chr1:1p36.22		 uncertain significance
GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1 copy number loss See cases [RCV000140873] Chr1:9428538..15815791 [GRCh38]
Chr1:9488597..16142286 [GRCh37]
Chr1:9411184..16014873 [NCBI36]
Chr1:1p36.22-36.21		 pathogenic
GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3 copy number gain See cases [RCV000141823] Chr1:11021751..15236671 [GRCh38]
Chr1:11081808..15563167 [GRCh37]
Chr1:11004395..15435754 [NCBI36]
Chr1:1p36.22-36.21		 likely pathogenic
GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1 copy number loss See cases [RCV000141438] Chr1:10264397..15780840 [GRCh38]
Chr1:10324455..16107335 [GRCh37]
Chr1:10247042..15979922 [NCBI36]
Chr1:1p36.22-36.21		 pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3 copy number gain See cases [RCV000142906] Chr1:6554885..16056011 [GRCh38]
Chr1:6614945..16382506 [GRCh37]
Chr1:6537532..16255093 [NCBI36]
Chr1:1p36.31-36.13		 pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1 copy number loss See cases [RCV000142771] Chr1:5363826..18360302 [GRCh38]
Chr1:5423886..18686796 [GRCh37]
Chr1:5323746..18559383 [NCBI36]
Chr1:1p36.31-36.13		 pathogenic
Single allele complex Breast ductal adenocarcinoma [RCV000207058] Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11		 uncertain significance
NM_006172.4(NPPA):c.454T>C (p.Ter152Arg) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001517156]|not provided [RCV001722150]|not specified [RCV000220174] Chr1:11846011 [GRCh38]
Chr1:11906068 [GRCh37]
Chr1:1p36.22		 benign
chr1:909238-16736132 complex variant complex Breast ductal adenocarcinoma [RCV000207094] Chr1:909238..16736132 [GRCh37]
Chr1:1p36.33-36.13		 uncertain significance
NM_006172.4(NPPA):c.252C>T (p.Thr84=) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000230212] Chr1:11847311 [GRCh38]
Chr1:11907368 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.253G>A (p.Gly85Arg) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000233070]|Atrial fibrillation, familial, 6 [RCV000764958] Chr1:11847310 [GRCh38]
Chr1:11907367 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.78T>A (p.Asn26Lys) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000227474]|Inborn genetic diseases [RCV002518347] Chr1:11847607 [GRCh38]
Chr1:11907664 [GRCh37]
Chr1:1p36.22		 uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1 copy number loss See cases [RCV000239416] Chr1:82154..12699337 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3 copy number gain See cases [RCV000240284] Chr1:8255222..12785220 [GRCh37]
Chr1:1p36.23-36.21		 likely pathogenic
GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1 copy number loss See cases [RCV000240403] Chr1:746608..15077159 [GRCh37]
Chr1:1p36.33-36.21		 pathogenic
NM_006172.4(NPPA):c.217G>A (p.Ala73Thr) single nucleotide variant not specified [RCV002281801] Chr1:11847346 [GRCh38]
Chr1:11907403 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.272A>G (p.Gln91Arg) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000531190]|not specified [RCV001194229] Chr1:11847291 [GRCh38]
Chr1:11907348 [GRCh37]
Chr1:1p36.22		 benign|likely benign|uncertain significance
NM_006172.4(NPPA):c.171C>T (p.Val57=) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000527384] Chr1:11847392 [GRCh38]
Chr1:11907449 [GRCh37]
Chr1:1p36.22		 likely benign
GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1 copy number loss See cases [RCV000446359] Chr1:4558588..13187457 [GRCh37]
Chr1:1p36.32-36.21		 pathogenic
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1 copy number loss See cases [RCV000446470] Chr1:2749920..22564787 [GRCh37]
Chr1:1p36.32-36.12		 pathogenic
NM_006172.4(NPPA):c.279T>G (p.Asp93Glu) single nucleotide variant Atrial fibrillation, familial, 6 [RCV003631128]|not provided [RCV000522731] Chr1:11847284 [GRCh38]
Chr1:11907341 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.135C>T (p.Asp45=) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000459509] Chr1:11847428 [GRCh38]
Chr1:11907485 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.172G>A (p.Val58Met) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000460903] Chr1:11847391 [GRCh38]
Chr1:11907448 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.292G>A (p.Gly98Arg) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000469485] Chr1:11847271 [GRCh38]
Chr1:11907328 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.83T>C (p.Met28Thr) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000473745]|not specified [RCV000780553] Chr1:11847602 [GRCh38]
Chr1:11907659 [GRCh37]
Chr1:1p36.22		 benign|likely benign
NM_006172.4(NPPA):c.206A>C (p.Glu69Ala) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001308826]|not provided [RCV000498887] Chr1:11847357 [GRCh38]
Chr1:11907414 [GRCh37]
Chr1:1p36.22		 uncertain significance
GRCh37/hg19 1p36.22-36.21(chr1:10722955-12910774)x1 copy number loss See cases [RCV000510444] Chr1:10722955..12910774 [GRCh37]
Chr1:1p36.22-36.21		 likely pathogenic
GRCh37/hg19 1p36.22-36.21(chr1:11143298-13709344)x3 copy number gain See cases [RCV000510407] Chr1:11143298..13709344 [GRCh37]
Chr1:1p36.22-36.21		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_006172.4(NPPA):c.23C>T (p.Thr8Ile) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000646142]|Inborn genetic diseases [RCV004639304] Chr1:11847662 [GRCh38]
Chr1:11907719 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.176C>T (p.Pro59Leu) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000646143] Chr1:11847387 [GRCh38]
Chr1:11907444 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.277_278del (p.Asp93fs) microsatellite Atrial fibrillation, familial, 6 [RCV000646144] Chr1:11847285..11847286 [GRCh38]
Chr1:11907342..11907343 [GRCh37]
Chr1:1p36.22		 conflicting interpretations of pathogenicity|uncertain significance
NM_006172.4(NPPA):c.425G>A (p.Ser142Asn) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000541350] Chr1:11847138 [GRCh38]
Chr1:11907195 [GRCh37]
Chr1:1p36.22		 uncertain significance
GRCh37/hg19 1p36.22-36.21(chr1:10722725-14267773)x1 copy number loss See cases [RCV000512501] Chr1:10722725..14267773 [GRCh37]
Chr1:1p36.22-36.21		 likely pathogenic
GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1 copy number loss See cases [RCV000512226] Chr1:8850514..16272383 [GRCh37]
Chr1:1p36.23-36.13		 likely pathogenic
NM_006172.4(NPPA):c.85T>C (p.Tyr29His) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000704211] Chr1:11847600 [GRCh38]
Chr1:11907657 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.352C>A (p.Leu118Met) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000701253]|not provided [RCV001535777]|not specified [RCV000780552] Chr1:11847211 [GRCh38]
Chr1:11907268 [GRCh37]
Chr1:1p36.22		 likely benign|uncertain significance|not provided
NM_006172.4(NPPA):c.219_227del (p.Ser75_Leu77del) deletion Atrial fibrillation, familial, 6 [RCV000694965] Chr1:11847336..11847344 [GRCh38]
Chr1:11907393..11907401 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.370A>G (p.Ser124Gly) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000696540] Chr1:11847193 [GRCh38]
Chr1:11907250 [GRCh37]
Chr1:1p36.22		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.22(chr1:11831595-12128498)x3 copy number gain not provided [RCV000736406] Chr1:11831595..12128498 [GRCh37]
Chr1:1p36.22		 benign
NM_006172.4(NPPA):c.48A>G (p.Ala16=) single nucleotide variant not provided [RCV000993917] Chr1:11847637 [GRCh38]
Chr1:11907694 [GRCh37]
Chr1:1p36.22		 likely benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
GRCh37/hg19 1p36.22-36.21(chr1:11690766-12835739) copy number loss not provided [RCV000767547] Chr1:11690766..12835739 [GRCh37]
Chr1:1p36.22-36.21		 pathogenic
NM_006172.4(NPPA):c.159A>G (p.Leu53=) single nucleotide variant not provided [RCV000902021] Chr1:11847404 [GRCh38]
Chr1:11907461 [GRCh37]
Chr1:1p36.22		 likely benign
GRCh37/hg19 1p36.22(chr1:9852396-11909475)x1 copy number loss not provided [RCV001005065] Chr1:9852396..11909475 [GRCh37]
Chr1:1p36.22		 likely pathogenic
NM_006172.4(NPPA):c.112A>G (p.Met38Val) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000798450] Chr1:11847573 [GRCh38]
Chr1:11907630 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.367C>A (p.Arg123=) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000807674] Chr1:11847196 [GRCh38]
Chr1:11907253 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.350C>T (p.Ala117Val) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000796917] Chr1:11847213 [GRCh38]
Chr1:11907270 [GRCh37]
Chr1:1p36.22		 uncertain significance
GRCh37/hg19 1p36.22-36.21(chr1:10246640-12841900)x1 copy number loss not provided [RCV000846372] Chr1:10246640..12841900 [GRCh37]
Chr1:1p36.22-36.21		 uncertain significance
GRCh37/hg19 1p36.22-36.21(chr1:11794553-12786444)x3 copy number gain See cases [RCV000790593] Chr1:11794553..12786444 [GRCh37]
Chr1:1p36.22-36.21		 pathogenic
NM_006172.4(NPPA):c.208G>T (p.Ala70Ser) single nucleotide variant Atrial fibrillation, familial, 6 [RCV000795825] Chr1:11847355 [GRCh38]
Chr1:11907412 [GRCh37]
Chr1:1p36.22		 uncertain significance
GRCh37/hg19 1p36.22(chr1:11846836-12055790)x1 copy number loss not provided [RCV000847324] Chr1:11846836..12055790 [GRCh37]
Chr1:1p36.22		 uncertain significance
NC_000001.11:g.(?_11012634)_(11934865_?)del deletion Atrial fibrillation, familial, 6 [RCV001031444] Chr1:11072691..11994922 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.16ACC[2] (p.Thr8del) microsatellite Atrial fibrillation, familial, 6 [RCV001044604] Chr1:11847661..11847663 [GRCh38]
Chr1:11907718..11907720 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.319C>T (p.Arg107Ter) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001219807]|Atrial fibrillation, familial, 6 [RCV002484193] Chr1:11847244 [GRCh38]
Chr1:11907301 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.368G>A (p.Arg123Gln) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001205207] Chr1:11847195 [GRCh38]
Chr1:11907252 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.337A>G (p.Ser113Gly) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001242256] Chr1:11847226 [GRCh38]
Chr1:11907283 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.102C>T (p.Asn34=) single nucleotide variant Atrial fibrillation, familial, 6 [RCV003106353] Chr1:11847583 [GRCh38]
Chr1:11907640 [GRCh37]
Chr1:1p36.22		 likely benign
NC_000001.10:g.(?_11875883)_(11907741_?)dup duplication not provided [RCV003107345] Chr1:11875883..11907741 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.*85T>C single nucleotide variant not provided [RCV001617646] Chr1:11845924 [GRCh38]
Chr1:11905981 [GRCh37]
Chr1:1p36.22		 benign
NM_006172.4(NPPA):c.450+201del deletion not provided [RCV001534803] Chr1:11846912 [GRCh38]
Chr1:11906969 [GRCh37]
Chr1:1p36.22		 benign
NM_006172.4(NPPA):c.*258_*268del deletion not provided [RCV001687912] Chr1:11845741..11845751 [GRCh38]
Chr1:11905798..11905808 [GRCh37]
Chr1:1p36.22		 benign
NM_006172.4(NPPA):c.24C>T (p.Thr8=) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001432282] Chr1:11847661 [GRCh38]
Chr1:11907718 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.450+257G>C single nucleotide variant not provided [RCV001540094] Chr1:11846856 [GRCh38]
Chr1:11906913 [GRCh37]
Chr1:1p36.22		 benign
NC_000001.11:g.11848110C>T single nucleotide variant not provided [RCV001661180] Chr1:11848110 [GRCh38]
Chr1:11908167 [GRCh37]
Chr1:1p36.22		 benign
NM_006172.4(NPPA):c.450+189A>G single nucleotide variant not provided [RCV001719561] Chr1:11846924 [GRCh38]
Chr1:11906981 [GRCh37]
Chr1:1p36.22		 benign
NM_006172.4(NPPA):c.*92T>C single nucleotide variant not provided [RCV001719563] Chr1:11845917 [GRCh38]
Chr1:11905974 [GRCh37]
Chr1:1p36.22		 benign
NM_006172.4(NPPA):c.377G>A (p.Arg126Gln) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001303284]|Vascular dementia [RCV001263186]|not provided [RCV004691332] Chr1:11847186 [GRCh38]
Chr1:11907243 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.448C>T (p.Arg150Trp) single nucleotide variant Atrial fibrillation, familial, 6 [RCV003631213]|not provided [RCV001723286] Chr1:11847115 [GRCh38]
Chr1:11907172 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.*215T>C single nucleotide variant not provided [RCV001719562] Chr1:11845794 [GRCh38]
Chr1:11905851 [GRCh37]
Chr1:1p36.22		 benign
NM_006172.4(NPPA):c.450+200_450+201del deletion not provided [RCV001719597] Chr1:11846912..11846913 [GRCh38]
Chr1:11906969..11906970 [GRCh37]
Chr1:1p36.22		 benign
NM_006172.4(NPPA):c.*71G>T single nucleotide variant not provided [RCV001596254] Chr1:11845938 [GRCh38]
Chr1:11905995 [GRCh37]
Chr1:1p36.22		 benign
NM_006172.4(NPPA):c.426C>T (p.Ser142=) single nucleotide variant Atrial fibrillation, familial, 6 [RCV002558780]|not specified [RCV001174917] Chr1:11847137 [GRCh38]
Chr1:11907194 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.451-323dup duplication not provided [RCV001696371] Chr1:11846318..11846319 [GRCh38]
Chr1:11906375..11906376 [GRCh37]
Chr1:1p36.22		 benign
NM_006172.4(NPPA):c.25G>A (p.Val9Met) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001214510]|Atrial fibrillation, familial, 6 [RCV002484169]|not specified [RCV004587072] Chr1:11847660 [GRCh38]
Chr1:11907717 [GRCh37]
Chr1:1p36.22		 likely benign|uncertain significance
NM_006172.4(NPPA):c.103G>A (p.Ala35Thr) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001207849]|NPPA-related disorder [RCV003393886] Chr1:11847582 [GRCh38]
Chr1:11907639 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.89A>G (p.Asn30Ser) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001037523] Chr1:11847596 [GRCh38]
Chr1:11907653 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.346_354del (p.Arg116_Leu118del) deletion Atrial fibrillation, familial, 6 [RCV001042132] Chr1:11847209..11847217 [GRCh38]
Chr1:11907266..11907274 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.118T>C (p.Phe40Leu) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001062850] Chr1:11847567 [GRCh38]
Chr1:11907624 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.154C>T (p.Pro52Ser) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001325742] Chr1:11847409 [GRCh38]
Chr1:11907466 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.19A>G (p.Thr7Ala) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001309476] Chr1:11847666 [GRCh38]
Chr1:11907723 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.149A>T (p.Lys50Met) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001372214] Chr1:11847414 [GRCh38]
Chr1:11907471 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.375G>A (p.Leu125=) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001396554]|Atrial fibrillation, familial, 6 [RCV002488217] Chr1:11847188 [GRCh38]
Chr1:11907245 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.255G>A (p.Gly85=) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001391761] Chr1:11847308 [GRCh38]
Chr1:11907365 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.316G>C (p.Asp106His) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001294762] Chr1:11847247 [GRCh38]
Chr1:11907304 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.59T>C (p.Leu20Pro) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001338935] Chr1:11847626 [GRCh38]
Chr1:11907683 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.338G>C (p.Ser113Thr) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001371138] Chr1:11847225 [GRCh38]
Chr1:11907282 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.450+210A>G single nucleotide variant not provided [RCV001538875] Chr1:11846903 [GRCh38]
Chr1:11906960 [GRCh37]
Chr1:1p36.22		 benign
NM_006172.4(NPPA):c.390C>T (p.Cys130=) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001471930] Chr1:11847173 [GRCh38]
Chr1:11907230 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.451-4G>T single nucleotide variant Atrial fibrillation, familial, 6 [RCV001463561] Chr1:11846018 [GRCh38]
Chr1:11906075 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.264C>T (p.Ser88=) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001425362] Chr1:11847299 [GRCh38]
Chr1:11907356 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.93C>T (p.Ala31=) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001446914] Chr1:11847592 [GRCh38]
Chr1:11907649 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.393C>T (p.Phe131=) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001418767] Chr1:11847170 [GRCh38]
Chr1:11907227 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.450+182dup duplication not provided [RCV001608803] Chr1:11846921..11846922 [GRCh38]
Chr1:11906978..11906979 [GRCh37]
Chr1:1p36.22		 benign
NM_006172.4(NPPA):c.93C>A (p.Ala31=) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001455446] Chr1:11847592 [GRCh38]
Chr1:11907649 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.123+52G>A single nucleotide variant not provided [RCV001665829] Chr1:11847510 [GRCh38]
Chr1:11907567 [GRCh37]
Chr1:1p36.22		 benign
NM_006172.4(NPPA):c.9C>A (p.Ser3=) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001487001] Chr1:11847676 [GRCh38]
Chr1:11907733 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.111G>C (p.Leu37=) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001458607] Chr1:11847574 [GRCh38]
Chr1:11907631 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.124-7T>C single nucleotide variant Atrial fibrillation, familial, 6 [RCV001423263]|NPPA-related disorder [RCV003908616] Chr1:11847446 [GRCh38]
Chr1:11907503 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.451-9T>G single nucleotide variant Atrial fibrillation, familial, 6 [RCV001432551] Chr1:11846023 [GRCh38]
Chr1:11906080 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.94G>A (p.Val32Met) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001521904]|not provided [RCV001536622] Chr1:11847591 [GRCh38]
Chr1:11907648 [GRCh37]
Chr1:1p36.22		 benign
NC_000001.10:g.(?_11882732)_(11907741_?)del deletion not provided [RCV003107344] Chr1:11882732..11907741 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.376C>T (p.Arg126Trp) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001949722] Chr1:11847187 [GRCh38]
Chr1:11907244 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.225C>A (p.Ser75Arg) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001929610] Chr1:11847338 [GRCh38]
Chr1:11907395 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.372C>A (p.Ser124Arg) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001987967] Chr1:11847191 [GRCh38]
Chr1:11907248 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.393C>A (p.Phe131Leu) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001967994] Chr1:11847170 [GRCh38]
Chr1:11907227 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.123G>C (p.Lys41Asn) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001964783] Chr1:11847562 [GRCh38]
Chr1:11907619 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.13T>C (p.Ser5Pro) single nucleotide variant Atrial fibrillation, familial, 6 [RCV002043466] Chr1:11847672 [GRCh38]
Chr1:11907729 [GRCh37]
Chr1:1p36.22		 uncertain significance
GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1 copy number loss not provided [RCV001832902] Chr1:849466..17525065 [GRCh37]
Chr1:1p36.33-36.13		 pathogenic
NM_006172.4(NPPA):c.209C>T (p.Ala70Val) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001909926] Chr1:11847354 [GRCh38]
Chr1:11907411 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.242C>G (p.Pro81Arg) single nucleotide variant Atrial fibrillation, familial, 6 [RCV002041461] Chr1:11847321 [GRCh38]
Chr1:11907378 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.347G>A (p.Arg116Lys) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001871167] Chr1:11847216 [GRCh38]
Chr1:11907273 [GRCh37]
Chr1:1p36.22		 uncertain significance
NC_000001.10:g.(?_6485016)_(12569078_?)del deletion not provided [RCV001940096] Chr1:6485016..12569078 [GRCh37]
Chr1:1p36.31-36.22		 uncertain significance
NM_006172.4(NPPA):c.134A>G (p.Asp45Gly) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001901960] Chr1:11847429 [GRCh38]
Chr1:11907486 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.187C>A (p.Leu63Ile) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001997806] Chr1:11847376 [GRCh38]
Chr1:11907433 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.13_15del (p.Ser5del) deletion Atrial fibrillation, familial, 6 [RCV001944853] Chr1:11847670..11847672 [GRCh38]
Chr1:11907727..11907729 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.413T>C (p.Ile138Thr) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001870331] Chr1:11847150 [GRCh38]
Chr1:11907207 [GRCh37]
Chr1:1p36.22		 uncertain significance
NC_000001.10:g.(?_11850737)_(12569078_?)dup duplication not provided [RCV001877528] Chr1:11850737..12569078 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.358A>G (p.Thr120Ala) single nucleotide variant Atrial fibrillation, familial, 6 [RCV002027082] Chr1:11847205 [GRCh38]
Chr1:11907262 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.49T>C (p.Phe17Leu) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001934072] Chr1:11847636 [GRCh38]
Chr1:11907693 [GRCh37]
Chr1:1p36.22		 uncertain significance
NC_000001.10:g.(?_8616514)_(12476900_?)dup duplication Immunodeficiency 14 [RCV001920571] Chr1:8616514..12476900 [GRCh37]
Chr1:1p36.23-36.22		 uncertain significance
NM_006172.4(NPPA):c.209C>G (p.Ala70Gly) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001885790] Chr1:11847354 [GRCh38]
Chr1:11907411 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.123+17G>C single nucleotide variant Atrial fibrillation, familial, 6 [RCV001938608] Chr1:11847545 [GRCh38]
Chr1:11907602 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.320G>A (p.Arg107Gln) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001885928] Chr1:11847243 [GRCh38]
Chr1:11907300 [GRCh37]
Chr1:1p36.22		 uncertain significance
NC_000001.10:g.(?_11906018)_(11994922_?)dup duplication Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001991675] Chr1:11906018..11994922 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.61G>A (p.Gly21Ser) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001915835] Chr1:11847624 [GRCh38]
Chr1:11907681 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.113T>G (p.Met38Arg) single nucleotide variant Atrial fibrillation, familial, 6 [RCV001917910] Chr1:11847572 [GRCh38]
Chr1:11907629 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.224G>A (p.Ser75Asn) single nucleotide variant Atrial fibrillation, familial, 6 [RCV002015718] Chr1:11847339 [GRCh38]
Chr1:11907396 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.454_455inv (p.Ter152Gln) inversion Atrial fibrillation, familial, 6 [RCV001951718] Chr1:11846010..11846011 [GRCh38]
Chr1:11906067..11906068 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.165T>C (p.Asp55=) single nucleotide variant Atrial fibrillation, familial, 6 [RCV002075578] Chr1:11847398 [GRCh38]
Chr1:11907455 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.291C>T (p.Leu97=) single nucleotide variant Atrial fibrillation, familial, 6 [RCV002100699] Chr1:11847272 [GRCh38]
Chr1:11907329 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.124-20T>C single nucleotide variant Atrial fibrillation, familial, 6 [RCV002103380] Chr1:11847459 [GRCh38]
Chr1:11907516 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.351G>A (p.Ala117=) single nucleotide variant Atrial fibrillation, familial, 6 [RCV002182714] Chr1:11847212 [GRCh38]
Chr1:11907269 [GRCh37]
Chr1:1p36.22		 likely benign
NC_000001.10:g.(?_11847760)_(12066770_?)dup duplication Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003110970] Chr1:11847760..12066770 [GRCh37]
Chr1:1p36.22		 uncertain significance
NC_000001.10:g.(?_10698999)_(11907741_?)dup duplication Atrial fibrillation, familial, 6 [RCV003116537] Chr1:10698999..11907741 [GRCh37]
Chr1:1p36.22		 uncertain significance
NC_000001.10:g.(?_11906066)_(12066770_?)dup duplication Charcot-Marie-Tooth disease type 2 [RCV003116795] Chr1:11906066..12066770 [GRCh37]
Chr1:1p36.22		 uncertain significance
NC_000001.10:g.(?_9304994)_(12569078_?)dup duplication Charcot-Marie-Tooth disease type 2 [RCV003119499] Chr1:9304994..12569078 [GRCh37]
Chr1:1p36.22		 uncertain significance
NC_000001.11:g.10115497_16283149dup duplication not specified [RCV002286386] Chr1:10115497..16283149 [GRCh38]
Chr1:1p36.22-36.13		 likely pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1 copy number loss not provided [RCV002473951] Chr1:849467..12448956 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1 copy number loss not provided [RCV002474779] Chr1:6758933..19287770 [GRCh37]
Chr1:1p36.31-36.13		 pathogenic
NM_006172.4(NPPA):c.363C>T (p.Ala121=) single nucleotide variant Atrial fibrillation, familial, 6 [RCV003075382] Chr1:11847200 [GRCh38]
Chr1:11907257 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.451-16T>C single nucleotide variant Atrial fibrillation, familial, 6 [RCV002615180] Chr1:11846030 [GRCh38]
Chr1:11906087 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.124-12C>T single nucleotide variant Atrial fibrillation, familial, 6 [RCV002948165] Chr1:11847451 [GRCh38]
Chr1:11907508 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.179C>G (p.Pro60Arg) single nucleotide variant Atrial fibrillation, familial, 6 [RCV003075815] Chr1:11847384 [GRCh38]
Chr1:11907441 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.320G>C (p.Arg107Pro) single nucleotide variant Atrial fibrillation, familial, 6 [RCV002926632] Chr1:11847243 [GRCh38]
Chr1:11907300 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.159AGA[1] (p.Glu54del) microsatellite Atrial fibrillation, familial, 6 [RCV002736179] Chr1:11847399..11847401 [GRCh38]
Chr1:11907456..11907458 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.250A>C (p.Thr84Pro) single nucleotide variant Atrial fibrillation, familial, 6 [RCV002622698] Chr1:11847313 [GRCh38]
Chr1:11907370 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.229del (p.Leu77fs) deletion Atrial fibrillation, familial, 6 [RCV003037121]|not provided [RCV003427549] Chr1:11847334 [GRCh38]
Chr1:11907391 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.45G>T (p.Leu15=) single nucleotide variant Atrial fibrillation, familial, 6 [RCV003056255] Chr1:11847640 [GRCh38]
Chr1:11907697 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.320G>T (p.Arg107Leu) single nucleotide variant Atrial fibrillation, familial, 6 [RCV002766151] Chr1:11847243 [GRCh38]
Chr1:11907300 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.210G>A (p.Ala70=) single nucleotide variant Atrial fibrillation, familial, 6 [RCV002643749] Chr1:11847353 [GRCh38]
Chr1:11907410 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.281G>T (p.Gly94Val) single nucleotide variant Atrial fibrillation, familial, 6 [RCV002642593] Chr1:11847282 [GRCh38]
Chr1:11907339 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.13T>A (p.Ser5Thr) single nucleotide variant Atrial fibrillation, familial, 6 [RCV002642543] Chr1:11847672 [GRCh38]
Chr1:11907729 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.165T>G (p.Asp55Glu) single nucleotide variant Atrial fibrillation, familial, 6 [RCV002917315] Chr1:11847398 [GRCh38]
Chr1:11907455 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.123+17G>A single nucleotide variant Atrial fibrillation, familial, 6 [RCV002578445] Chr1:11847545 [GRCh38]
Chr1:11907602 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.305G>A (p.Trp102Ter) single nucleotide variant Atrial fibrillation, familial, 6 [RCV003046713] Chr1:11847258 [GRCh38]
Chr1:11907315 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.329T>C (p.Leu110Pro) single nucleotide variant Atrial fibrillation, familial, 6 [RCV003026767] Chr1:11847234 [GRCh38]
Chr1:11907291 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.114G>A (p.Met38Ile) single nucleotide variant Atrial fibrillation, familial, 6 [RCV002716304] Chr1:11847571 [GRCh38]
Chr1:11907628 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.124-28_124-19del deletion Atrial fibrillation, familial, 6 [RCV002582515] Chr1:11847458..11847467 [GRCh38]
Chr1:11907515..11907524 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.196C>A (p.Pro66Thr) single nucleotide variant Atrial fibrillation, familial, 6 [RCV003067923] Chr1:11847367 [GRCh38]
Chr1:11907424 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.450+16del deletion Atrial fibrillation, familial, 6 [RCV003071210] Chr1:11847097 [GRCh38]
Chr1:11907154 [GRCh37]
Chr1:1p36.22		 benign
NM_006172.4(NPPA):c.336A>G (p.Lys112=) single nucleotide variant Atrial fibrillation, familial, 6 [RCV003072909] Chr1:11847227 [GRCh38]
Chr1:11907284 [GRCh37]
Chr1:1p36.22		 likely benign
NC_000001.10:g.4481271_20530242del deletion Chromosome 1p36 deletion syndrome [RCV003159574] Chr1:4481271..20530242 [GRCh37]
Chr1:1p36.32-36.12		 pathogenic
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 copy number gain Trisomy 12p [RCV003447845] Chr1:99125..34026935 [GRCh38]
Chr1:1p36.33-35.1		 pathogenic
NM_006172.4(NPPA):c.441C>T (p.Asn147=) single nucleotide variant Atrial fibrillation, familial, 6 [RCV003516661] Chr1:11847122 [GRCh38]
Chr1:11907179 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.140T>G (p.Leu47Trp) single nucleotide variant Atrial fibrillation, familial, 6 [RCV003518648] Chr1:11847423 [GRCh38]
Chr1:11907480 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.450+20G>A single nucleotide variant Atrial fibrillation, familial, 6 [RCV003518279] Chr1:11847093 [GRCh38]
Chr1:11907150 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.45G>A (p.Leu15=) single nucleotide variant Atrial fibrillation, familial, 6 [RCV003878264] Chr1:11847640 [GRCh38]
Chr1:11907697 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.266C>A (p.Pro89Gln) single nucleotide variant Atrial fibrillation, familial, 6 [RCV003632310] Chr1:11847297 [GRCh38]
Chr1:11907354 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.61G>T (p.Gly21Cys) single nucleotide variant Atrial fibrillation, familial, 6 [RCV003632553] Chr1:11847624 [GRCh38]
Chr1:11907681 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.124-5T>C single nucleotide variant Atrial fibrillation, familial, 6 [RCV003632578] Chr1:11847444 [GRCh38]
Chr1:11907501 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.450+8G>A single nucleotide variant Atrial fibrillation, familial, 6 [RCV003632657] Chr1:11847105 [GRCh38]
Chr1:11907162 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.27G>A (p.Val9=) single nucleotide variant Atrial fibrillation, familial, 6 [RCV003631335] Chr1:11847658 [GRCh38]
Chr1:11907715 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.423G>A (p.Gln141=) single nucleotide variant Atrial fibrillation, familial, 6 [RCV003632905] Chr1:11847140 [GRCh38]
Chr1:11907197 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.387C>T (p.Ser129=) single nucleotide variant Atrial fibrillation, familial, 6 [RCV003632900] Chr1:11847176 [GRCh38]
Chr1:11907233 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.367C>T (p.Arg123Trp) single nucleotide variant Atrial fibrillation, familial, 6 [RCV003632789] Chr1:11847196 [GRCh38]
Chr1:11907253 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.73G>A (p.Ala25Thr) single nucleotide variant Atrial fibrillation, familial, 6 [RCV003631706] Chr1:11847612 [GRCh38]
Chr1:11907669 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.110T>C (p.Leu37Pro) single nucleotide variant Atrial fibrillation, familial, 6 [RCV003631576] Chr1:11847575 [GRCh38]
Chr1:11907632 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.451-18T>A single nucleotide variant Atrial fibrillation, familial, 6 [RCV003632637] Chr1:11846032 [GRCh38]
Chr1:11906089 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.297G>C (p.Arg99=) single nucleotide variant Atrial fibrillation, familial, 6 [RCV003632356] Chr1:11847266 [GRCh38]
Chr1:11907323 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.58C>G (p.Leu20Val) single nucleotide variant Atrial fibrillation, familial, 6 [RCV003631919] Chr1:11847627 [GRCh38]
Chr1:11907684 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.410G>A (p.Arg137Lys) single nucleotide variant Atrial fibrillation, familial, 6 [RCV003631675] Chr1:11847153 [GRCh38]
Chr1:11907210 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.327C>T (p.Ala109=) single nucleotide variant Atrial fibrillation, familial, 6 [RCV003631367] Chr1:11847236 [GRCh38]
Chr1:11907293 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.123+7C>T single nucleotide variant Atrial fibrillation, familial, 6 [RCV003632901] Chr1:11847555 [GRCh38]
Chr1:11907612 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.450+16G>A single nucleotide variant Atrial fibrillation, familial, 6 [RCV003823307] Chr1:11847097 [GRCh38]
Chr1:11907154 [GRCh37]
Chr1:1p36.22		 likely benign
NM_006172.4(NPPA):c.47C>T (p.Ala16Val) single nucleotide variant Atrial fibrillation, familial, 6 [RCV003866115] Chr1:11847638 [GRCh38]
Chr1:11907695 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_006172.4(NPPA):c.435C>T (p.Gly145=) single nucleotide variant Atrial fibrillation, familial, 6 [RCV003859210] Chr1:11847128 [GRCh38]
Chr1:11907185 [GRCh37]
Chr1:1p36.22		 likely benign
GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1 copy number loss not specified [RCV003987128] Chr1:6330828..12910774 [GRCh37]
Chr1:1p36.31-36.21		 pathogenic
NM_006172.4(NPPA):c.447C>G (p.Phe149Leu) single nucleotide variant Atrial fibrillation, familial, 6 [RCV003857868] Chr1:11847116 [GRCh38]
Chr1:11907173 [GRCh37]
Chr1:1p36.22		 uncertain significance
GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2 copy number loss not provided [RCV004577440] Chr1:4436802..22782007 [GRCh37]
Chr1:1p36.32-36.12		 pathogenic
NC_000001.10:g.(?_10710729)_(12030893_?)del deletion not provided [RCV004579076] Chr1:10710729..12030893 [GRCh37]
Chr1:1p36.22		 uncertain significance
NC_000001.10:g.(?_5923325)_(12071622_?)del deletion not provided [RCV004579132] Chr1:5923325..12071622 [GRCh37]
Chr1:1p36.31-36.22		 uncertain significance
NM_006172.4(NPPA):c.128T>C (p.Leu43Ser) single nucleotide variant Inborn genetic diseases [RCV004644106] Chr1:11847435 [GRCh38]
Chr1:11907492 [GRCh37]
Chr1:1p36.22		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:609
Count of miRNA genes:413
Interacting mature miRNAs:457
Transcripts:ENST00000376476, ENST00000376480
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298451OSTEAR17_HOsteoarthritis QTL 17 (human)2.40.0004Joint/bone inflammationosteoarthritis11125188105Human
1576329MYI9_HMyocardial infarction susceptibility QTL 9 (human)12Myocardial infarction susceptibilityearly-onset1758550333585503Human
407112928GWAS761904_Hsmoking status measurement, diastolic blood pressure QTL GWAS761904 (human)2e-29smoking status measurement, diastolic blood pressurediastolic blood pressure (CMO:0000005)11184591711845918Human
407041349GWAS690325_Hsystolic blood pressure QTL GWAS690325 (human)0.0000003systolic blood pressuresystolic blood pressure (CMO:0000004)11184711411847115Human
407113166GWAS762142_Hsmoking status measurement, systolic blood pressure QTL GWAS762142 (human)9e-35smoking status measurement, systolic blood pressuresystolic blood pressure (CMO:0000004)11184591711845918Human
407041593GWAS690569_Hpulse pressure measurement QTL GWAS690569 (human)2e-08pulse pressure measurementpulse pressure (CMO:0000292)11184711411847115Human
1298463BP9_HBlood pressure QTL 9 (human)3.9Blood pressurehypertension susceptibility1125188105Human
1576325MYI1_HMyocardial infarction susceptibility QTL 1 (human)11.681e-12Myocardial infarction susceptibilityearly-onset1758550333585503Human
1643380BW316_HBody weight QTL 316 (human)2.620.0002Body weightBMI1758550333585503Human
406910270GWAS559246_Hsystolic blood pressure QTL GWAS559246 (human)2e-10systolic blood pressuresystolic blood pressure (CMO:0000004)11184676411846765Human
406910335GWAS559311_Hsystolic blood pressure QTL GWAS559311 (human)8e-23systolic blood pressuresystolic blood pressure (CMO:0000004)11184676411846765Human
407146891GWAS795867_Hpsoriasis QTL GWAS795867 (human)4e-09psoriasis11184759111847592Human

Markers in Region
RH80468  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,905,774 - 11,906,033UniSTSGRCh37
Build 36111,828,361 - 11,828,620RGDNCBI36
Celera111,019,397 - 11,019,656RGD
Cytogenetic Map1p36.21UniSTS
HuRef111,060,831 - 11,061,090UniSTS
GeneMap99-GB4 RH Map151.31UniSTS
GDB:196313  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,906,017 - 11,906,148UniSTSGRCh37
Build 36111,828,604 - 11,828,735RGDNCBI36
Celera111,019,640 - 11,019,771RGD
Cytogenetic Map1p36.21UniSTS
HuRef111,061,074 - 11,061,205UniSTS
GDB:226664  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,906,017 - 11,907,365UniSTSGRCh37
Build 36111,828,604 - 11,829,952RGDNCBI36
Celera111,019,640 - 11,020,997RGD
Cytogenetic Map1p36.21UniSTS
HuRef111,061,074 - 11,062,430UniSTS
GDB:549199  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,907,744 - 11,907,950UniSTSGRCh37
Build 36111,830,331 - 11,830,537RGDNCBI36
Celera111,021,376 - 11,021,582RGD
Cytogenetic Map1p36.21UniSTS
HuRef111,062,809 - 11,063,015UniSTS
Nppa  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,907,729 - 11,908,107UniSTSGRCh37
GRCh37111,907,171 - 11,907,352UniSTSGRCh37
Build 36111,830,316 - 11,830,694RGDNCBI36
Celera111,020,803 - 11,020,984UniSTS
Celera111,021,361 - 11,021,739RGD
HuRef111,062,794 - 11,063,172UniSTS
HuRef111,062,236 - 11,062,417UniSTS
SHGC-74238  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,905,859 - 11,906,026UniSTSGRCh37
Build 36111,828,446 - 11,828,613RGDNCBI36
Celera111,019,482 - 11,019,649RGD
Cytogenetic Map1p36.21UniSTS
HuRef111,060,916 - 11,061,083UniSTS
TNG Radiation Hybrid Map16443.0UniSTS
GeneMap99-GB4 RH Map151.31UniSTS
Nppa  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,907,729 - 11,908,107UniSTSGRCh37
GRCh37111,907,171 - 11,907,352UniSTSGRCh37
Build 36111,830,316 - 11,830,694RGDNCBI36
Celera111,020,803 - 11,020,984UniSTS
Celera111,021,361 - 11,021,739RGD
HuRef111,062,794 - 11,063,172UniSTS
HuRef111,062,236 - 11,062,417UniSTS


Sequence


Ensembl Acc Id: ENST00000376476   ⟹   ENSP00000365659
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,845,879 - 11,848,345 (-)Ensembl
Ensembl Acc Id: ENST00000376480   ⟹   ENSP00000365663
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,845,709 - 11,847,783 (-)Ensembl
Ensembl Acc Id: ENST00000610706   ⟹   ENSP00000483195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,845,712 - 11,847,783 (-)Ensembl
RefSeq Acc Id: NM_006172   ⟹   NP_006163
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,845,709 - 11,847,783 (-)NCBI
GRCh37111,905,766 - 11,907,840 (-)ENTREZGENE
Build 36111,828,363 - 11,830,422 (-)NCBI Archive
HuRef111,060,823 - 11,062,905 (-)ENTREZGENE
CHM1_1111,893,660 - 11,895,736 (-)NCBI
T2T-CHM13v2.0111,389,795 - 11,391,868 (-)NCBI
Sequence:
RefSeq Acc Id: NP_006163   ⟸   NM_006172
- Peptide Label: preproprotein
- UniProtKB: Q13766 (UniProtKB/Swiss-Prot),   Q5JZE1 (UniProtKB/Swiss-Prot),   P01160 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000483195   ⟸   ENST00000610706
Ensembl Acc Id: ENSP00000365659   ⟸   ENST00000376476
Ensembl Acc Id: ENSP00000365663   ⟸   ENST00000376480

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P01160-F1-model_v2 AlphaFold P01160 1-151 view protein structure

Promoters
RGD ID:6850072
Promoter ID:EP11132
Type:single initiation site
Name:HS_NPPA
Description:Pronatriodilatin, Atrial natriuretic factor, NPPA or PND gene.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 83; Mammalian pronatriodilatin
Tissues & Cell Lines:cardiac atrium
Experiment Methods:Primer extension with homologous sequence ladder
Position:
Human AssemblyChrPosition (strand)Source
Build 36111,830,425 - 11,830,485EPD
RGD ID:6785355
Promoter ID:HG_KWN:711
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:ENST00000376476,   OTTHUMT00000006852
Position:
Human AssemblyChrPosition (strand)Source
Build 36111,830,654 - 11,831,154 (-)MPROMDB
RGD ID:6854120
Promoter ID:EPDNEW_H225
Type:multiple initiation site
Name:NPPA_1
Description:natriuretic peptide A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H226  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,847,782 - 11,847,842EPDNEW
RGD ID:6854122
Promoter ID:EPDNEW_H226
Type:initiation region
Name:NPPA_2
Description:natriuretic peptide A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H225  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,848,366 - 11,848,426EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7939 AgrOrtholog
COSMIC NPPA COSMIC
Ensembl Genes ENSG00000175206 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000376476.1 UniProtKB/TrEMBL
  ENST00000376480 ENTREZGENE
  ENST00000376480.7 UniProtKB/Swiss-Prot
GTEx ENSG00000175206 GTEx
HGNC ID HGNC:7939 ENTREZGENE
Human Proteome Map NPPA Human Proteome Map
InterPro Natr_peptide UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Natr_peptide_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Natriuretic_peptide UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Natriuretic_peptide_atrial UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4878 UniProtKB/Swiss-Prot
NCBI Gene 4878 ENTREZGENE
OMIM 108780 OMIM
PANTHER ATRIAL NATRIURETIC FACTOR PRECURSOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NATRIURETIC PEPTIDES A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ANP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA256 PharmGKB
PRINTS ANATPEPTIDE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NATPEPTIDES UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE NATRIURETIC_PEPTIDE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART NAT_PEP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ANF_HUMAN UniProtKB/Swiss-Prot
  B0ZBE8_HUMAN UniProtKB/TrEMBL
  P01160 ENTREZGENE
  Q13766 ENTREZGENE
  Q5JZE1 ENTREZGENE
UniProt Secondary Q13766 UniProtKB/Swiss-Prot
  Q5JZE1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 NPPA  natriuretic peptide A  NPPA  natriuretic peptide precursor A  Symbol and/or name change 5135510 APPROVED