SCNN1A (sodium channel epithelial 1 subunit alpha) - Rat Genome Database

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Gene: SCNN1A (sodium channel epithelial 1 subunit alpha) Homo sapiens
Analyze
Symbol: SCNN1A
Name: sodium channel epithelial 1 subunit alpha
RGD ID: 736324
HGNC Page HGNC:10599
Description: Enables WW domain binding activity. Contributes to sodium channel activity. Involved in several processes, including cellular response to acidic pH; intracellular sodium ion homeostasis; and sodium ion import across plasma membrane. Located in several cellular components, including ciliary membrane; extracellular exosome; and motile cilium. Part of sodium channel complex. Is active in apical plasma membrane. Implicated in Liddle syndrome; bronchiectasis 2; and pseudohypoaldosteronism. Biomarker of neuroblastoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: alpha ENaC-2; alpha-ENaC; alpha-NaCH; amiloride-sensitive epithelial sodium channel alpha subunit; amiloride-sensitive sodium channel subunit alpha; amiloride-sensitive sodium channel subunit alpha 2; BESC2; ENaCa; ENaCalpha; epithelial Na(+) channel subunit alpha; FLJ21883; LIDLS3; nasal epithelial sodium channel alpha subunit; nonvoltage-gated sodium channel 1 subunit alpha; PHA1B1; SCNEA; SCNN1; sodium channel epithelial 1 alpha subunit; sodium channel, non voltage gated 1 alpha subunit; sodium channel, non-voltage-gated 1 alpha; sodium channel, non-voltage-gated 1 alpha subunit; sodium channel, nonvoltage-gated 1 alpha
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
GRCh38126,346,847 - 6,377,359 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl126,346,843 - 6,377,730 (-)EnsemblGRCh38hg38GRCh38
GRCh37126,456,013 - 6,486,525 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36126,326,274 - 6,354,976 (-)NCBINCBI36Build 36hg18NCBI36
Build 34126,326,275 - 6,354,976NCBI
Celera128,072,686 - 8,103,776 (-)NCBICelera
Cytogenetic Map12p13.31NCBI
HuRef126,309,328 - 6,340,388 (-)NCBIHuRef
CHM1_1126,455,271 - 6,485,705 (-)NCBICHM1_1
T2T-CHM13v2.0126,356,269 - 6,387,417 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-nitropyrene  (EXP)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trinitrotoluene  (ISO)
2,4-dinitrotoluene  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-amino-2,6-dinitrotoluene  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
8-(4-chlorophenylthio)-cAMP  (ISO)
8-(4-chlorophenylthio)-cGMP  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP)
aldosterone  (EXP,ISO)
all-trans-retinoic acid  (EXP)
allethrin  (ISO)
amiloride  (EXP,ISO)
ammonium chloride  (ISO)
amphotericin B  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
Azoxymethane  (ISO)
azoxystrobin  (ISO)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-lapachone  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bleomycin A5  (EXP)
bromobenzene  (ISO)
butanal  (EXP)
C60 fullerene  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP)
calcitriol  (EXP)
chlorpyrifos  (ISO)
cisplatin  (EXP)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
cortisol  (EXP)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP)
cyhalothrin  (ISO)
cypermethrin  (ISO)
DDE  (EXP)
dexamethasone  (ISO)
dextran sulfate  (ISO)
dibenzofurans  (ISO)
dicrotophos  (EXP)
dimethylarsinous acid  (EXP)
dioxygen  (ISO)
dorsomorphin  (EXP)
entinostat  (EXP)
epoxiconazole  (ISO)
ethanol  (EXP)
farglitazar  (ISO)
fenthion  (ISO)
fenvalerate  (ISO)
flavonoids  (ISO)
flutamide  (EXP)
folic acid  (EXP)
formaldehyde  (EXP)
fulvestrant  (EXP)
furan  (ISO)
genistein  (ISO)
gentamycin  (ISO)
glyphosate  (ISO)
hexachlorobenzene  (ISO)
imidacloprid  (ISO)
indole-3-methanol  (ISO)
iodide salt  (ISO)
isotretinoin  (EXP)
lead diacetate  (EXP)
leflunomide  (EXP)
lithium atom  (EXP)
lithium chloride  (EXP)
lithium hydride  (EXP)
mercury dibromide  (EXP)
mercury dichloride  (ISO)
methoxychlor  (ISO)
methylmercury(1+)  (ISO)
nitrates  (ISO)
nitrofen  (ISO)
orphenadrine  (ISO)
ozone  (ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
PCB138  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium atom  (EXP)
progesterone  (EXP,ISO)
propranolol  (ISO)
prothioconazole  (EXP)
pyrethrins  (ISO)
quercetin  (EXP,ISO)
raloxifene  (EXP)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
sevoflurane  (ISO)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP,ISO)
sodium atom  (EXP,ISO)
sodium chloride  (ISO)
sodium fluoride  (ISO)
sulforaphane  (EXP)
tamoxifen  (EXP)
terbutaline  (ISO)
testosterone  (EXP,ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thiabendazole  (ISO)
thioacetamide  (ISO)
thiourea  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP,ISO)
triptonide  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal circulating aldosterone concentration  (IAGP)
Abnormal respiratory system physiology  (IAGP)
Abnormality of exocrine pancreas physiology  (IAGP)
Acute infectious pneumonia  (IAGP)
Arrhythmia  (IAGP)
Atopic dermatitis  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bronchiectasis  (IAGP)
Cachexia  (IAGP)
Cardiac arrest  (IAGP)
Cerebral ischemia  (IAGP)
Chest pain  (IAGP)
Cholelithiasis  (IAGP)
Chronic bronchitis  (IAGP)
Clubbing  (IAGP)
Constipation  (IAGP)
Cough  (IAGP)
Crackles  (IAGP)
Decreased circulating aldosterone concentration  (IAGP)
Decreased circulating renin concentration  (IAGP)
Dehydration  (IAGP)
Diarrhea  (IAGP)
Dyspnea  (IAGP)
Elevated sweat chloride  (IAGP)
Emphysema  (IAGP)
Failure to thrive  (IAGP)
Failure to thrive in infancy  (IAGP)
Fatigue  (IAGP)
Feeding difficulties in infancy  (IAGP)
Fever  (IAGP)
First degree atrioventricular block  (IAGP)
Glucocortocoid-insensitive primary hyperaldosteronism  (IAGP)
Halitosis  (IAGP)
Hemoptysis  (IAGP)
Hyperactive renin-angiotensin system  (IAGP)
Hyperkalemia  (IAGP)
Hyperpolarized transepithelial nasal potential difference  (IAGP)
Hypertension  (IAGP)
Hypokalemia  (IAGP)
Hyponatremia  (IAGP)
Hypotension  (IAGP)
Hypovolemic shock  (IAGP)
Increased circulating aldosterone concentration  (IAGP)
Increased circulating renin concentration  (IAGP)
Juvenile onset  (IAGP)
Metabolic acidosis  (IAGP)
Metabolic alkalosis  (IAGP)
Muscle weakness  (IAGP)
Myocardial infarction  (IAGP)
Neonatal onset  (IAGP)
Nephropathy  (IAGP)
Osteomyelitis  (IAGP)
Paroxysmal ventricular tachycardia  (IAGP)
Productive cough  (IAGP)
Proportionate short stature  (IAGP)
Prostate cancer  (IAGP)
Pseudohypoaldosteronism  (IAGP)
Pustule  (IAGP)
Recurrent bronchiolitis  (IAGP)
Recurrent Haemophilus influenzae infections  (IAGP)
Recurrent lower respiratory tract infections  (IAGP)
Recurrent respiratory infections  (IAGP)
Recurrent tonsillitis  (IAGP)
Recurrent upper and lower respiratory tract infections  (IAGP)
Reduced FEV1/FVC ratio  (IAGP)
Renal insufficiency  (IAGP)
Renal salt wasting  (IAGP)
Respiratory tract infection  (IAGP)
Right bundle branch block  (IAGP)
Sick sinus syndrome  (IAGP)
ST segment elevation  (IAGP)
Supraventricular tachycardia  (IAGP)
Syncope  (IAGP)
Tachycardia  (IAGP)
Trifascicular block  (IAGP)
Ventricular arrhythmia  (IAGP)
Ventricular fibrillation  (IAGP)
Vomiting  (IAGP)
Weight loss  (IAGP)
Wheezing  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Identification of epigenetically regulated genes that predict patient outcome in neuroblastoma. Caren H, etal., BMC Cancer. 2011 Feb 11;11:66.
2. Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Chang SS, etal., Nat Genet. 1996 Mar;12(3):248-53.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Impact of alphaENaC polymorphisms on the risk of ischemic cerebrovascular events: a multicenter case-control study. Hsieh K, etal., Clin Chem. 2005 Jun;51(6):952-6. Epub 2005 Feb 25.
5. Increased expression and apical targeting of renal ENaC subunits in puromycin aminonucleoside-induced nephrotic syndrome in rats. Kim SW, etal., Am J Physiol Renal Physiol. 2004 May;286(5):F922-35. Epub 2004 Jan 6.
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
8. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
9. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7896277   PMID:8023962   PMID:8278374   PMID:8889548   PMID:8986818   PMID:9169421   PMID:9575806   PMID:9612219   PMID:9654208   PMID:10212229   PMID:10404817   PMID:10409621  
PMID:10447117   PMID:10586178   PMID:10642508   PMID:11244092   PMID:11266509   PMID:11359767   PMID:11675945   PMID:11696533   PMID:11752024   PMID:11756432   PMID:11802777   PMID:12082592  
PMID:12107247   PMID:12167593   PMID:12477932   PMID:12562778   PMID:12876068   PMID:12923071   PMID:14556380   PMID:14996668   PMID:15069064   PMID:15169674   PMID:15308680   PMID:15326289  
PMID:15328345   PMID:15489334   PMID:15498559   PMID:15596218   PMID:15746174   PMID:15755725   PMID:15853823   PMID:16172422   PMID:16344560   PMID:16373340   PMID:16416336   PMID:16423824  
PMID:16463024   PMID:16574660   PMID:16844684   PMID:16912051   PMID:17020471   PMID:17170520   PMID:17381423   PMID:17434346   PMID:17460608   PMID:17502380   PMID:17537777   PMID:17596527  
PMID:17766193   PMID:17905853   PMID:18174164   PMID:18298571   PMID:18355814   PMID:18513389   PMID:18547339   PMID:18632802   PMID:18634878   PMID:18660489   PMID:18665318   PMID:18701608  
PMID:18703878   PMID:18801933   PMID:18818748   PMID:18981174   PMID:18990692   PMID:19017867   PMID:19019335   PMID:19131662   PMID:19238444   PMID:19263529   PMID:19300301   PMID:19359370  
PMID:19423540   PMID:19462466   PMID:19479237   PMID:19527514   PMID:19541605   PMID:19559392   PMID:19561078   PMID:19617352   PMID:19619128   PMID:19619703   PMID:19720813   PMID:19763606  
PMID:19773279   PMID:19858199   PMID:19864429   PMID:19913121   PMID:19925887   PMID:19948975   PMID:20054153   PMID:20078945   PMID:20079059   PMID:20097829   PMID:20098615   PMID:20106988  
PMID:20194130   PMID:20406964   PMID:20424473   PMID:20438785   PMID:20484876   PMID:20519934   PMID:20536507   PMID:20577119   PMID:20628086   PMID:20663296   PMID:20675381   PMID:20709758  
PMID:21048031   PMID:21307123   PMID:21478478   PMID:21562341   PMID:21653223   PMID:21664233   PMID:21667229   PMID:21768316   PMID:21775436   PMID:21873635   PMID:21889619   PMID:21893217  
PMID:21917531   PMID:22127840   PMID:22207244   PMID:22250980   PMID:22374202   PMID:22406554   PMID:22493497   PMID:22526458   PMID:22573385   PMID:22613977   PMID:22729284   PMID:22776878  
PMID:22983350   PMID:22987920   PMID:23218889   PMID:23297398   PMID:23416952   PMID:23460285   PMID:23523754   PMID:23563609   PMID:23594824   PMID:23645669   PMID:23665454   PMID:23762408  
PMID:23837941   PMID:24043776   PMID:24114932   PMID:24124190   PMID:24419567   PMID:24735600   PMID:24914548   PMID:25173609   PMID:25187622   PMID:25242083   PMID:25339316   PMID:25371970  
PMID:25517724   PMID:25559464   PMID:25894531   PMID:25900089   PMID:26032502   PMID:26318459   PMID:26453628   PMID:26611714   PMID:26651153   PMID:26685112   PMID:26772908   PMID:27045669  
PMID:27137675   PMID:27606670   PMID:27835672   PMID:27903760   PMID:28130590   PMID:28137758   PMID:28471472   PMID:28611215   PMID:28710092   PMID:29036630   PMID:29358325   PMID:29757959  
PMID:29997525   PMID:30251954   PMID:30423324   PMID:30920175   PMID:31018202   PMID:31301676   PMID:31549859   PMID:31871197   PMID:31936044   PMID:32139118   PMID:32323794   PMID:32729833  
PMID:32838581   PMID:33486988   PMID:33630195   PMID:33916525   PMID:33961781   PMID:34134742   PMID:34558641   PMID:34823420   PMID:35714697   PMID:35858421   PMID:36193739   PMID:37134141  
PMID:37280474   PMID:37843257  


Genomics

Comparative Map Data
SCNN1A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38126,346,847 - 6,377,359 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl126,346,843 - 6,377,730 (-)EnsemblGRCh38hg38GRCh38
GRCh37126,456,013 - 6,486,525 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36126,326,274 - 6,354,976 (-)NCBINCBI36Build 36hg18NCBI36
Build 34126,326,275 - 6,354,976NCBI
Celera128,072,686 - 8,103,776 (-)NCBICelera
Cytogenetic Map12p13.31NCBI
HuRef126,309,328 - 6,340,388 (-)NCBIHuRef
CHM1_1126,455,271 - 6,485,705 (-)NCBICHM1_1
T2T-CHM13v2.0126,356,269 - 6,387,417 (-)NCBIT2T-CHM13v2.0
Scnn1a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396125,286,657 - 125,321,906 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6125,297,622 - 125,321,906 (+)EnsemblGRCm39 Ensembl
GRCm386125,314,271 - 125,344,943 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6125,320,659 - 125,344,943 (+)EnsemblGRCm38mm10GRCm38
MGSCv376125,271,358 - 125,294,961 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366125,287,472 - 125,310,562 (+)NCBIMGSCv36mm8
Celera6126,992,384 - 127,015,966 (+)NCBICelera
Cytogenetic Map6F3NCBI
cM Map659.32NCBI
Scnn1a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84159,809,187 - 159,832,409 (+)NCBIGRCr8
mRatBN7.24158,122,962 - 158,146,184 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4158,122,962 - 158,146,181 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4164,352,580 - 164,375,779 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04160,135,500 - 160,158,705 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04158,774,454 - 158,797,542 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04157,834,339 - 157,860,472 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4157,836,912 - 157,860,049 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04224,853,710 - 224,877,459 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44161,445,936 - 161,469,267 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14161,690,871 - 161,714,200 (+)NCBI
Celera4146,859,208 - 146,882,414 (+)NCBICelera
RH 3.4 Map41000.7RGD
Cytogenetic Map4q42NCBI
Scnn1a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554133,999,613 - 4,023,596 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554134,000,083 - 4,023,596 (-)NCBIChiLan1.0ChiLan1.0
SCNN1A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21011,906,576 - 11,936,618 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11211,903,334 - 11,934,030 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0126,475,723 - 6,506,443 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1126,392,354 - 6,423,118 (-)NCBIpanpan1.1PanPan1.1panPan2
SCNN1A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12738,612,206 - 38,638,212 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2738,612,194 - 38,638,980 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha277,976,259 - 8,002,278 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02738,968,240 - 38,994,329 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2738,969,121 - 38,994,321 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12738,840,880 - 38,866,869 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02738,882,321 - 38,908,328 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0277,455,013 - 7,481,038 (-)NCBIUU_Cfam_GSD_1.0
Scnn1a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945102,703,982 - 102,735,845 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367091,377,831 - 1,403,833 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367091,377,852 - 1,403,398 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SCNN1A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl564,285,015 - 64,313,612 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1564,287,529 - 64,312,917 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2566,749,072 - 66,773,949 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SCNN1A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1116,384,073 - 6,418,620 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl116,383,956 - 6,416,337 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660631,817,244 - 1,851,507 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Scnn1a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248603,126,379 - 3,145,043 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248603,123,676 - 3,152,217 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SCNN1A
244 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001038.6(SCNN1A):c.875+1G>A single nucleotide variant Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV003227777]|not provided [RCV000519225] Chr12:6362050 [GRCh38]
Chr12:6471216 [GRCh37]
Chr12:12p13.31
pathogenic|likely pathogenic
NM_001038.6(SCNN1A):c.203_204del (p.Ile68fs) deletion Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000009845] Chr12:6374580..6374581 [GRCh38]
Chr12:6483746..6483747 [GRCh37]
Chr12:12p13.31
pathogenic
NM_001038.6(SCNN1A):c.1449del (p.Tyr484fs) deletion Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000009847]|not provided [RCV001579849] Chr12:6349212 [GRCh38]
Chr12:6458378 [GRCh37]
Chr12:12p13.31
pathogenic
NM_001038.6(SCNN1A):c.729del (p.Val245fs) deletion Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000009848] Chr12:6362197 [GRCh38]
Chr12:6471363 [GRCh37]
Chr12:12p13.31
pathogenic
NM_001038.6(SCNN1A):c.2004dup (p.Pro669fs) duplication not provided [RCV000519255] Chr12:6347878..6347879 [GRCh38]
Chr12:6457044..6457045 [GRCh37]
Chr12:12p13.31
conflicting interpretations of pathogenicity|uncertain significance
NM_001038.6(SCNN1A):c.1522C>T (p.Arg508Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV002298438]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000009846]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002482850] Chr12:6348981 [GRCh38]
Chr12:6458147 [GRCh37]
Chr12:12p13.31
pathogenic|likely pathogenic
NM_001038.6(SCNN1A):c.1685C>T (p.Ser562Leu) single nucleotide variant Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000009849]|not provided [RCV003162223] Chr12:6348198 [GRCh38]
Chr12:6457364 [GRCh37]
Chr12:12p13.31
pathogenic|likely pathogenic
NM_001038.6(SCNN1A):c.340G>A (p.Val114Ile) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000009850]|not provided [RCV001762041] Chr12:6374444 [GRCh38]
Chr12:6483610 [GRCh37]
Chr12:12p13.31
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000009851]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000264087]|not provided [RCV001528586]|not specified [RCV000173721] Chr12:6349184 [GRCh38]
Chr12:6458350 [GRCh37]
Chr12:12p13.31
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_001038.6(SCNN1A):c.241C>T (p.Arg81Cys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000009852] Chr12:6374543 [GRCh38]
Chr12:6483709 [GRCh37]
Chr12:12p13.31
pathogenic
GRCh38/hg38 12p13.31(chr12:6098040-6355855)x3 copy number gain See cases [RCV000051955] Chr12:6098040..6355855 [GRCh38]
Chr12:6207206..6465021 [GRCh37]
Chr12:6077467..6335282 [NCBI36]
Chr12:12p13.31
uncertain significance
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22
pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1
pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121055-7272606)x3 copy number gain See cases [RCV000053663] Chr12:121055..7272606 [GRCh38]
Chr12:282465..7425202 [GRCh37]
Chr12:100482..7316469 [NCBI36]
Chr12:12p13.33-13.31
pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121255-8361746)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|See cases [RCV000053664] Chr12:121255..8361746 [GRCh38]
Chr12:282465..8514342 [GRCh37]
Chr12:100682..8405609 [NCBI36]
Chr12:12p13.33-13.31
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
NM_001038.5(SCNN1A):c.1143+40G>A single nucleotide variant Lung cancer [RCV000111200] Chr12:6355232 [GRCh38]
Chr12:6464398 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1853G>T (p.Cys618Phe) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000339865]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000378232]|not provided [RCV001636709]|not specified [RCV000174501] Chr12:6348030 [GRCh38]
Chr12:6457196 [GRCh37]
Chr12:12p13.31
benign
NM_001038.6(SCNN1A):c.540G>T (p.Leu180=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000297832]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000390365]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002492771]|not provided [RCV001725134]|not specified [RCV000177107] Chr12:6363587 [GRCh38]
Chr12:6472753 [GRCh37]
Chr12:12p13.31
benign|likely benign
NM_001038.6(SCNN1A):c.541C>T (p.Arg181Trp) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000303655]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000360696]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002503680]|not provided [RCV001723752]|not specified [RCV000177108] Chr12:6363586 [GRCh38]
Chr12:6363586..6363587 [GRCh38]
Chr12:6472752 [GRCh37]
Chr12:6472752..6472753 [GRCh37]
Chr12:12p13.31
benign|likely benign
NM_001038.6(SCNN1A):c.666G>A (p.Trp222Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV001292946] Chr12:6363461 [GRCh38]
Chr12:6472627 [GRCh37]
Chr12:12p13.31
pathogenic
NM_001038.6(SCNN1A):c.1129A>G (p.Ile377Val) single nucleotide variant Malignant tumor of prostate [RCV000149037] Chr12:6355286 [GRCh38]
Chr12:6464452 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3 copy number gain See cases [RCV000135350] Chr12:45740..6945196 [GRCh38]
Chr12:147099..7054359 [GRCh37]
Chr12:17360..6924620 [NCBI36]
Chr12:12p13.33-13.31
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3 copy number gain See cases [RCV000137694] Chr12:2871741..14987348 [GRCh38]
Chr12:2980907..15140282 [GRCh37]
Chr12:2851168..15031549 [NCBI36]
Chr12:12p13.33-12.3
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3 copy number gain See cases [RCV000141905] Chr12:1258274..20657577 [GRCh38]
Chr12:1367440..20810511 [GRCh37]
Chr12:1237701..20701778 [NCBI36]
Chr12:12p13.33-12.2
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
NM_001038.6(SCNN1A):c.416+3C>T single nucleotide variant not provided [RCV000890018]|not specified [RCV000151813] Chr12:6374365 [GRCh38]
Chr12:6483531 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.1987A>G (p.Thr663Ala) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000325126]|Liddle syndrome 3 [RCV001807094]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000295920]|not provided [RCV001668303]|not specified [RCV000151811] Chr12:6347896 [GRCh38]
Chr12:6457062 [GRCh37]
Chr12:12p13.31
benign
NM_001038.6(SCNN1A):c.1000G>A (p.Ala334Thr) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000271641]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000310345]|not provided [RCV001651019]|not specified [RCV000151812] Chr12:6355415 [GRCh38]
Chr12:6464581 [GRCh37]
Chr12:12p13.31
benign
NM_001038.6(SCNN1A):c.216C>T (p.Ile72=) single nucleotide variant not provided [RCV000175652] Chr12:6374568 [GRCh38]
Chr12:6483734 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
NM_001038.6(SCNN1A):c.997C>T (p.Arg333Cys) single nucleotide variant Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002478772]|not specified [RCV000223571] Chr12:6355418 [GRCh38]
Chr12:6464584 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1360+327C>T single nucleotide variant not provided [RCV001571197] Chr12:6354111 [GRCh38]
Chr12:6463277 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.1216C>A (p.Leu406Ile) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000280531]|Inborn genetic diseases [RCV002518203]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000337981]|not provided [RCV002518202]|not specified [RCV000215836] Chr12:6354776 [GRCh38]
Chr12:6463942 [GRCh37]
Chr12:12p13.31
benign|uncertain significance
NM_001038.6(SCNN1A):c.-28T>C single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000389824]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000288527]|not provided [RCV003156233]|not specified [RCV000220816] Chr12:6374811 [GRCh38]
Chr12:6483977 [GRCh37]
Chr12:12p13.31
benign|likely benign
NM_001038.6(SCNN1A):c.540_541delinsTT (p.Arg181Trp) indel Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000853223]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002500693]|not provided [RCV002515612]|not specified [RCV000216641] Chr12:6363586..6363587 [GRCh38]
Chr12:6472752..6472753 [GRCh37]
Chr12:12p13.31
benign|likely benign|uncertain significance
GRCh37/hg19 12p13.31(chr12:6442218-6456388)x3 copy number gain See cases [RCV000239937] Chr12:6442218..6456388 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_001038.6(SCNN1A):c.-55+5G>C single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000286353]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000390721]|SCNN1A-related disorder [RCV004544541]|not provided [RCV001539610]|not specified [RCV004596159] Chr12:6375500 [GRCh38]
Chr12:6484666 [GRCh37]
Chr12:12p13.31
benign
NM_001038.6(SCNN1A):c.*920C>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000324047]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000359817] Chr12:6346953 [GRCh38]
Chr12:6456119 [GRCh37]
Chr12:12p13.31
benign|likely benign
NM_001038.6(SCNN1A):c.1299C>T (p.Tyr433=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000286272]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000378570]|not provided [RCV001200576] Chr12:6354499 [GRCh38]
Chr12:6463665 [GRCh37]
Chr12:12p13.31
benign|likely benign|uncertain significance
NM_001038.5(SCNN1A):c.-186C>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV001823904]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000325265] Chr12:6375636 [GRCh38]
Chr12:6484802 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.1766G>A (p.Arg589Gln) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000343386]|Inborn genetic diseases [RCV003243065]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000286142] Chr12:6348117 [GRCh38]
Chr12:6457283 [GRCh37]
Chr12:12p13.31
likely benign|uncertain significance
NM_001038.6(SCNN1A):c.*850C>T single nucleotide variant Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000375033] Chr12:6347023 [GRCh38]
Chr12:6456189 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.1484C>T (p.Ser495Leu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000385070]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000328262]|not provided [RCV000949782]|not specified [RCV000728158] Chr12:6349177 [GRCh38]
Chr12:6458343 [GRCh37]
Chr12:12p13.31
benign|likely benign|uncertain significance
NM_001038.6(SCNN1A):c.1485G>T (p.Ser495=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000270746]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000363055]|not provided [RCV000898186]|not specified [RCV000825085] Chr12:6349176 [GRCh38]
Chr12:6458342 [GRCh37]
Chr12:12p13.31
benign|likely benign|uncertain significance
NM_001038.6(SCNN1A):c.*70T>C single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000273556]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000356566]|not provided [RCV001550086] Chr12:6347803 [GRCh38]
Chr12:6456969 [GRCh37]
Chr12:12p13.31
benign|likely benign
NM_001038.6(SCNN1A):c.1935C>T (p.Ala645=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000382052]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000289961]|not provided [RCV000897396] Chr12:6347948 [GRCh38]
Chr12:6457114 [GRCh37]
Chr12:12p13.31
benign|likely benign|uncertain significance
NM_001038.6(SCNN1A):c.684+9C>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000394173]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000290072]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002504071]|not provided [RCV001555146] Chr12:6363434 [GRCh38]
Chr12:6472600 [GRCh37]
Chr12:12p13.31
benign|likely benign
NM_001038.6(SCNN1A):c.*4G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000331001]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000387877] Chr12:6347869 [GRCh38]
Chr12:6457035 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.840C>T (p.Phe280=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000292539]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000375279]|not provided [RCV000924063] Chr12:6362086 [GRCh38]
Chr12:6471252 [GRCh37]
Chr12:12p13.31
benign|likely benign|uncertain significance
NM_001038.6(SCNN1A):c.-54-14C>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000291929]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000339903] Chr12:6374851 [GRCh38]
Chr12:6484017 [GRCh37]
Chr12:12p13.31
benign|likely benign|uncertain significance
NM_001038.6(SCNN1A):c.*914A>G single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000315805]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000260601]|not provided [RCV001785558] Chr12:6346959 [GRCh38]
Chr12:6456125 [GRCh37]
Chr12:12p13.31
benign|likely benign|uncertain significance
NM_001038.6(SCNN1A):c.74A>G (p.Lys25Arg) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000275632]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000333089] Chr12:6374710 [GRCh38]
Chr12:6483876 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.319G>A (p.Gly107Arg) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000355088]|Inborn genetic diseases [RCV003343770]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000262243]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002487369] Chr12:6374465 [GRCh38]
Chr12:6483631 [GRCh37]
Chr12:12p13.31
likely benign|uncertain significance
NM_001038.6(SCNN1A):c.1559G>C (p.Gly520Ala) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000337730]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000400458] Chr12:6348797 [GRCh38]
Chr12:6457963 [GRCh37]
Chr12:12p13.31
benign|likely benign|uncertain significance
NM_001038.6(SCNN1A):c.1497+6G>C single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000315468]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000276726]|not provided [RCV000961179] Chr12:6349158 [GRCh38]
Chr12:6458324 [GRCh37]
Chr12:12p13.31
benign|likely benign|uncertain significance
NM_001038.5(SCNN1A):c.-156C>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV001823903]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000369424] Chr12:6375606 [GRCh38]
Chr12:6484772 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.746G>A (p.Arg249Lys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000343569]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000295692] Chr12:6362180 [GRCh38]
Chr12:6471346 [GRCh37]
Chr12:12p13.31
benign|uncertain significance
NM_001038.6(SCNN1A):c.*633G>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000385594]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000296020]|not provided [RCV002248518] Chr12:6347240 [GRCh38]
Chr12:6456406 [GRCh37]
Chr12:12p13.31
benign|likely benign
NM_001038.6(SCNN1A):c.876-13C>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000318224]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000260717]|not provided [RCV002520828] Chr12:6355893 [GRCh38]
Chr12:6465059 [GRCh37]
Chr12:12p13.31
benign|likely benign|uncertain significance
NM_001038.6(SCNN1A):c.*113C>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000318293]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000260787] Chr12:6347760 [GRCh38]
Chr12:6456926 [GRCh37]
Chr12:12p13.31
benign|likely benign|uncertain significance
NM_001038.6(SCNN1A):c.1686G>A (p.Ser562=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000299120]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000397367]|not provided [RCV002522246] Chr12:6348197 [GRCh38]
Chr12:6457363 [GRCh37]
Chr12:12p13.31
benign|likely benign|uncertain significance
NM_001038.6(SCNN1A):c.-93A>G single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000299434]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000356647]|not provided [RCV004707015] Chr12:6375543 [GRCh38]
Chr12:6484709 [GRCh37]
Chr12:12p13.31
benign
NM_001038.6(SCNN1A):c.978C>T (p.Asn326=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000359208]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000266859]|not provided [RCV000959256]|not specified [RCV000602567] Chr12:6355778 [GRCh38]
Chr12:6464944 [GRCh37]
Chr12:12p13.31
benign|likely benign
NM_001038.6(SCNN1A):c.99C>T (p.Pro33=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000367351]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000319686]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002504072]|SCNN1A-related disorder [RCV004537745]|not provided [RCV001683246]|not specified [RCV000825086] Chr12:6374685 [GRCh38]
Chr12:6483851 [GRCh37]
Chr12:12p13.31
benign|likely benign
NM_001038.6(SCNN1A):c.*736T>G single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000331182]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000280754] Chr12:6347137 [GRCh38]
Chr12:6456303 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.648G>A (p.Gln216=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000394219]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000347241] Chr12:6363479 [GRCh38]
Chr12:6472645 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1048C>G (p.Arg350Gly) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000363726]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000306669] Chr12:6355367 [GRCh38]
Chr12:6464533 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.-48A>G single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000383840]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000326974]|SCNN1A-related disorder [RCV004537746]|not provided [RCV002248519]|not specified [RCV000614443] Chr12:6374831 [GRCh38]
Chr12:6483997 [GRCh37]
Chr12:12p13.31
benign|likely benign
NM_001038.6(SCNN1A):c.1073A>G (p.Glu358Gly) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000350992]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000395520]|not provided [RCV003727659] Chr12:6355342 [GRCh38]
Chr12:6464508 [GRCh37]
Chr12:12p13.31
benign|likely benign|uncertain significance
NM_001038.6(SCNN1A):c.826G>T (p.Gly276Cys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000330908]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000387793] Chr12:6362100 [GRCh38]
Chr12:6471266 [GRCh37]
Chr12:12p13.31
benign|uncertain significance
NM_001038.6(SCNN1A):c.1554-6C>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000312025]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000369009] Chr12:6348808 [GRCh38]
Chr12:6457974 [GRCh37]
Chr12:12p13.31
benign|likely benign|uncertain significance
NM_001038.5(SCNN1A):c.-155G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV001823902]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000312293]|not provided [RCV001840484] Chr12:6375605 [GRCh38]
Chr12:6484771 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.-69C>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000397222]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000334329] Chr12:6375519 [GRCh38]
Chr12:6484685 [GRCh37]
Chr12:12p13.31
benign|likely benign
NM_001038.6(SCNN1A):c.*296C>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000359167]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000390258]|not provided [RCV002285308] Chr12:6347577 [GRCh38]
Chr12:6456743 [GRCh37]
Chr12:12p13.31
benign|likely benign|uncertain significance
NM_001038.6(SCNN1A):c.54A>T (p.Pro18=) single nucleotide variant not provided [RCV000403465] Chr12:6374730 [GRCh38]
Chr12:6483896 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1629+28A>T single nucleotide variant not provided [RCV001566608] Chr12:6348699 [GRCh38]
Chr12:6457865 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.139_140delinsCT (p.Ala47Leu) indel not provided [RCV000722452] Chr12:6374644..6374645 [GRCh38]
Chr12:6483810..6483811 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001065.4(TNFRSF1A):c.-74G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV001823898]|Familial Periodic Fever [RCV000314258]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000359017]|TNF receptor-associated periodic fever syndrome (TRAPS) [RCV001113235] Chr12:6341888 [GRCh38]
Chr12:6451054 [GRCh37]
Chr12:12p13.31
likely benign|uncertain significance
NM_001038.6(SCNN1A):c.*114G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000353323]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000305448] Chr12:6347759 [GRCh38]
Chr12:6456925 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1241A>G (p.Gln414Arg) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000334521]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000372776] Chr12:6354751 [GRCh38]
Chr12:6463917 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.*590C>G single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000397593]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000351058] Chr12:6347283 [GRCh38]
Chr12:6456449 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.*1012TGTT[1] microsatellite Bronchiectasis with or without elevated sweat chloride 1 [RCV001823901]|Familial Periodic Fever [RCV000358137]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000264167]|not provided [RCV001690028] Chr12:6346854..6346857 [GRCh38]
Chr12:6456020..6456023 [GRCh37]
Chr12:12p13.31
benign|likely benign
NM_001065.4(TNFRSF1A):c.-233C>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 1 [RCV001823900]|Familial Periodic Fever [RCV000308770]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000303309]|TNF receptor-associated periodic fever syndrome (TRAPS) [RCV001114597] Chr12:6342047 [GRCh38]
Chr12:6451213 [GRCh37]
Chr12:12p13.31
likely benign|uncertain significance
NM_001038.6(SCNN1A):c.944A>G (p.Asn315Ser) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000324236]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000371894] Chr12:6355812 [GRCh38]
Chr12:6464978 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.*580A>C single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000347642]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000287978] Chr12:6347293 [GRCh38]
Chr12:6456459 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1177G>A (p.Asp393Asn) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000395493]|Inborn genetic diseases [RCV002520827]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000312398]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002504070] Chr12:6354815 [GRCh38]
Chr12:6463981 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.*415C>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000302047]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000397583] Chr12:6347458 [GRCh38]
Chr12:6456624 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001065.4(TNFRSF1A):c.-96C>T single nucleotide variant Autoinflammatory syndrome [RCV002262970]|Bronchiectasis with or without elevated sweat chloride 1 [RCV001823899]|Familial Periodic Fever [RCV000364144]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000361628]|TNF receptor-associated periodic fever syndrome (TRAPS) [RCV001114596]|not provided [RCV001565456] Chr12:6341910 [GRCh38]
Chr12:6451076 [GRCh37]
Chr12:12p13.31
likely benign|uncertain significance
NM_001038.6(SCNN1A):c.69del (p.Asn24fs) deletion Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001535836]|not provided [RCV000722629] Chr12:6374715 [GRCh38]
Chr12:6483881 [GRCh37]
Chr12:12p13.31
likely pathogenic|uncertain significance
NM_001038.6(SCNN1A):c.-55+2T>C single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV001114923]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000779114]|not provided [RCV000722903] Chr12:6375503 [GRCh38]
Chr12:6484669 [GRCh37]
Chr12:12p13.31
benign|uncertain significance
NM_001038.6(SCNN1A):c.1427G>A (p.Arg476Gln) single nucleotide variant Failure to thrive [RCV000735319]|not provided [RCV002536534] Chr12:6349339 [GRCh38]
Chr12:6458505 [GRCh37]
Chr12:12p13.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 copy number gain See cases [RCV000449287] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3 copy number gain See cases [RCV000446050] Chr12:173786..20026080 [GRCh37]
Chr12:12p13.33-12.2
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-8257049)x3 copy number gain See cases [RCV000446749] Chr12:173786..8257049 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_001038.6(SCNN1A):c.-54-7C>T single nucleotide variant not provided [RCV000497958] Chr12:6374844 [GRCh38]
Chr12:6484010 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1
likely pathogenic
GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3 copy number gain See cases [RCV000510853] Chr12:173786..11677456 [GRCh37]
Chr12:12p13.33-13.2
pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22
pathogenic
NM_001038.6(SCNN1A):c.-23C>G single nucleotide variant not specified [RCV000608481] Chr12:6374806 [GRCh38]
Chr12:6483972 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.942del (p.Asn315fs) deletion Idiopathic bronchiectasis [RCV000614949] Chr12:6355814 [GRCh38]
Chr12:6464980 [GRCh37]
Chr12:12p13.31
likely pathogenic
NM_001038.6(SCNN1A):c.1451A>G (p.Tyr484Cys) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000714669]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000714668] Chr12:6349210 [GRCh38]
Chr12:6458376 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11
pathogenic
NM_001038.6(SCNN1A):c.1435T>C (p.Cys479Arg) single nucleotide variant Liddle syndrome 3 [RCV000680280]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001535947]|not provided [RCV003546588] Chr12:6349331 [GRCh38]
Chr12:6458497 [GRCh37]
Chr12:12p13.31
pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3 copy number gain not provided [RCV000683477] Chr12:191242..8122785 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
NM_001038.6(SCNN1A):c.385G>A (p.Ala129Thr) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV000714667]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000714666]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002507252]|not provided [RCV004773123] Chr12:6374399 [GRCh38]
Chr12:6483565 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1000_1002delinsACC (p.Ala334Thr) indel not provided [RCV000723268] Chr12:6355413..6355415 [GRCh38]
Chr12:6464579..6464581 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21
pathogenic
NC_000012.12:g.6377490T>C single nucleotide variant not provided [RCV001648181] Chr12:6377490 [GRCh38]
Chr12:6486656 [GRCh37]
Chr12:12p13.31
benign
NM_001038.6(SCNN1A):c.398G>A (p.Cys133Tyr) single nucleotide variant Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV003314462] Chr12:6374386 [GRCh38]
Chr12:6483552 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.702G>A (p.Ser234=) single nucleotide variant not provided [RCV000900657] Chr12:6362224 [GRCh38]
Chr12:6471390 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.126G>A (p.Thr42=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV001115038]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001115037]|not provided [RCV000959924] Chr12:6374658 [GRCh38]
Chr12:6483824 [GRCh37]
Chr12:12p13.31
benign|likely benign|uncertain significance
NM_001038.6(SCNN1A):c.1323C>T (p.Asn441=) single nucleotide variant not provided [RCV000902111] Chr12:6354475 [GRCh38]
Chr12:6463641 [GRCh37]
Chr12:12p13.31
likely benign
NC_000012.12:g.(1_3750000)_(5250000_9000000)del deletion Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000758697] Chr12:3750000..5250000 [GRCh38]
Chr12:12p13.33-13.31
pathogenic|not provided
NC_000012.11:g.(?_6438458)_(7362839_?)dup duplication Peroxisome biogenesis disorder 2B [RCV001031288] Chr12:6438458..7362839 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1520C>T (p.Ser507Leu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV001109185]|Inborn genetic diseases [RCV002540873]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001109184]|not provided [RCV000914391] Chr12:6348983 [GRCh38]
Chr12:6458149 [GRCh37]
Chr12:12p13.31
benign|likely benign|uncertain significance
NM_001038.6(SCNN1A):c.1771C>T (p.Arg591Ter) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV001114825]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000779111]|SCNN1A-related disorder [RCV004735799] Chr12:6348112 [GRCh38]
Chr12:6457278 [GRCh37]
Chr12:12p13.31
benign|uncertain significance
NM_001038.6(SCNN1A):c.1440-2A>G single nucleotide variant SCNN1A-related disorder [RCV000779112] Chr12:6349223 [GRCh38]
Chr12:6458389 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.2T>C (p.Met1Thr) single nucleotide variant SCNN1A-related disorder [RCV000779113] Chr12:6374782 [GRCh38]
Chr12:6483948 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1554A>G (p.Arg518=) single nucleotide variant Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002501153]|not specified [RCV000825232] Chr12:6348802 [GRCh38]
Chr12:6457968 [GRCh37]
Chr12:12p13.31
likely benign
GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292) copy number gain not provided [RCV000767818] Chr12:237588..8278292 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
NM_001038.6(SCNN1A):c.1173T>C (p.Tyr391=) single nucleotide variant not provided [RCV000939603] Chr12:6354819 [GRCh38]
Chr12:6463985 [GRCh37]
Chr12:12p13.31
likely benign
GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497) copy number gain not provided [RCV000767819] Chr12:189216..8185497 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
NM_001038.6(SCNN1A):c.339C>T (p.Pro113=) single nucleotide variant SCNN1A-related disorder [RCV004531009]|not provided [RCV000897274] Chr12:6374445 [GRCh38]
Chr12:6483611 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.1074A>G (p.Glu358=) single nucleotide variant Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002495450]|not provided [RCV000900585] Chr12:6355341 [GRCh38]
Chr12:6464507 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.129G>A (p.Ala43=) single nucleotide variant not provided [RCV000981501] Chr12:6374655 [GRCh38]
Chr12:6483821 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.418T>G (p.Tyr140Asp) single nucleotide variant Inborn genetic diseases [RCV003248883] Chr12:6363709 [GRCh38]
Chr12:6472875 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420) copy number gain not provided [RCV000767817] Chr12:189216..15001420 [GRCh37]
Chr12:12p13.33-12.3
pathogenic
NM_001038.6(SCNN1A):c.1717G>A (p.Val573Ile) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV001114827]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001114826]|not provided [RCV000892931] Chr12:6348166 [GRCh38]
Chr12:6457332 [GRCh37]
Chr12:12p13.31
benign|likely benign
NM_001038.6(SCNN1A):c.1221_1227dup (p.Lys410fs) duplication Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000988777] Chr12:6354764..6354765 [GRCh38]
Chr12:6463930..6463931 [GRCh37]
Chr12:12p13.31
pathogenic
GRCh37/hg19 12p13.31(chr12:6070459-6737675)x3 copy number gain not provided [RCV000848085] Chr12:6070459..6737675 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_001038.6(SCNN1A):c.*386G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV001114706]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001114707] Chr12:6347487 [GRCh38]
Chr12:6456653 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.147C>T (p.Ile49=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV001115035]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001115036]|not provided [RCV000918429] Chr12:6374637 [GRCh38]
Chr12:6483803 [GRCh37]
Chr12:12p13.31
benign|likely benign|uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3 copy number gain not provided [RCV000846343] Chr12:173786..8393815 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
NM_001038.6(SCNN1A):c.1439+1G>A single nucleotide variant Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000988776]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002497281] Chr12:6349326 [GRCh38]
Chr12:6458492 [GRCh37]
Chr12:12p13.31
pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
NM_001038.6(SCNN1A):c.417-15C>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV001112091]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001115034] Chr12:6363725 [GRCh38]
Chr12:6472891 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.-54-13G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV001109396]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001111715]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002482200] Chr12:6374850 [GRCh38]
Chr12:6484016 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1361G>A (p.Gly454Glu) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV001113508]|Inborn genetic diseases [RCV004032179]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001113509]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002491358]|SCNN1A-related disorder [RCV004734018] Chr12:6349405 [GRCh38]
Chr12:6458571 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.*727A>G single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV001108974]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001108975] Chr12:6347146 [GRCh38]
Chr12:6456312 [GRCh37]
Chr12:12p13.31
uncertain significance
NC_000012.11:g.(?_4368352)_(9027607_?)dup duplication Lymphoproliferative syndrome 2 [RCV003105682] Chr12:4368352..9027607 [GRCh37]
Chr12:12p13.32-13.31
uncertain significance
NM_001038.6(SCNN1A):c.1360+277C>T single nucleotide variant not provided [RCV001582090] Chr12:6354161 [GRCh38]
Chr12:6463327 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.416+71A>G single nucleotide variant not provided [RCV001717520] Chr12:6374297 [GRCh38]
Chr12:6483463 [GRCh37]
Chr12:12p13.31
benign
NM_001038.6(SCNN1A):c.684+98C>G single nucleotide variant not provided [RCV001589639] Chr12:6363345 [GRCh38]
Chr12:6472511 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.1497+56C>G single nucleotide variant not provided [RCV001681634] Chr12:6349108 [GRCh38]
Chr12:6458274 [GRCh37]
Chr12:12p13.31
benign
NM_001038.6(SCNN1A):c.1360+335A>G single nucleotide variant not provided [RCV001557650] Chr12:6354103 [GRCh38]
Chr12:6463269 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.1629+95G>A single nucleotide variant not provided [RCV001552854] Chr12:6348632 [GRCh38]
Chr12:6457798 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.-54-327A>G single nucleotide variant not provided [RCV001552862] Chr12:6375164 [GRCh38]
Chr12:6484330 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.614G>A (p.Ser205Asn) single nucleotide variant not provided [RCV000930615] Chr12:6363513 [GRCh38]
Chr12:6472679 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.*1020G>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV001114599]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001114598] Chr12:6346853 [GRCh38]
Chr12:6456019 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.*509T>G single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV001113333]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001113332] Chr12:6347364 [GRCh38]
Chr12:6456530 [GRCh37]
Chr12:12p13.31
benign|likely benign
NM_001038.6(SCNN1A):c.1440-10C>T single nucleotide variant not provided [RCV000935273] Chr12:6349231 [GRCh38]
Chr12:6458397 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.783G>A (p.Ser261=) single nucleotide variant not provided [RCV000912864] Chr12:6362143 [GRCh38]
Chr12:6471309 [GRCh37]
Chr12:12p13.31
likely benign
NC_000012.12:g.6346794G>A single nucleotide variant not provided [RCV001661027] Chr12:6346794 [GRCh38]
Chr12:6455960 [GRCh37]
Chr12:12p13.31
benign
NM_001038.6(SCNN1A):c.1554-6C>G single nucleotide variant not provided [RCV000994828] Chr12:6348808 [GRCh38]
Chr12:6457974 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.728C>T (p.Ser243Leu) single nucleotide variant not provided [RCV000994829] Chr12:6362198 [GRCh38]
Chr12:6471364 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.875+146G>T single nucleotide variant not provided [RCV001651399] Chr12:6361905 [GRCh38]
Chr12:6471071 [GRCh37]
Chr12:12p13.31
benign
NM_001038.6(SCNN1A):c.417-95G>A single nucleotide variant not provided [RCV001608253] Chr12:6363805 [GRCh38]
Chr12:6472971 [GRCh37]
Chr12:12p13.31
benign
NM_001038.6(SCNN1A):c.1629+57G>T single nucleotide variant not provided [RCV001608674] Chr12:6348670 [GRCh38]
Chr12:6457836 [GRCh37]
Chr12:12p13.31
benign
NM_001038.6(SCNN1A):c.1629+51A>G single nucleotide variant not provided [RCV001636519] Chr12:6348676 [GRCh38]
Chr12:6457842 [GRCh37]
Chr12:12p13.31
benign
NM_001038.6(SCNN1A):c.979+159C>T single nucleotide variant not provided [RCV001685151] Chr12:6355618 [GRCh38]
Chr12:6464784 [GRCh37]
Chr12:12p13.31
benign
NM_001038.6(SCNN1A):c.417-200T>G single nucleotide variant not provided [RCV001653063] Chr12:6363910 [GRCh38]
Chr12:6473076 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.875+293G>T single nucleotide variant not provided [RCV001715051] Chr12:6361758 [GRCh38]
Chr12:6470924 [GRCh37]
Chr12:12p13.31
benign
NM_001038.6(SCNN1A):c.1553+32G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV001807474]|Liddle syndrome 3 [RCV001807475]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001807473]|not provided [RCV001654180] Chr12:6348918 [GRCh38]
Chr12:6458084 [GRCh37]
Chr12:12p13.31
benign
NM_001038.6(SCNN1A):c.1360+221G>A single nucleotide variant not provided [RCV001656533] Chr12:6354217 [GRCh38]
Chr12:6463383 [GRCh37]
Chr12:12p13.31
benign
NM_001038.6(SCNN1A):c.684+284ATT[6] microsatellite not provided [RCV001638559] Chr12:6363139..6363141 [GRCh38]
Chr12:6472305..6472307 [GRCh37]
Chr12:12p13.31
benign
NM_001038.6(SCNN1A):c.*542G>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV001111331]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001111330] Chr12:6347331 [GRCh38]
Chr12:6456497 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.2004G>T (p.Gly668=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV001111427]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001111428] Chr12:6347879 [GRCh38]
Chr12:6457045 [GRCh37]
Chr12:12p13.31
benign|uncertain significance
NM_001038.6(SCNN1A):c.*69A>G single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV001109084]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001109083] Chr12:6347804 [GRCh38]
Chr12:6456970 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.777C>G (p.Ile259Met) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV001111617]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001111618]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002482203]|not provided [RCV004693677] Chr12:6362149 [GRCh38]
Chr12:6471315 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1805C>T (p.Ala602Val) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV001113423]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001113424] Chr12:6348078 [GRCh38]
Chr12:6457244 [GRCh37]
Chr12:12p13.31
likely benign|uncertain significance
NM_001038.6(SCNN1A):c.1801G>C (p.Gly601Arg) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV001113426]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001113425] Chr12:6348082 [GRCh38]
Chr12:6457248 [GRCh37]
Chr12:12p13.31
likely benign|uncertain significance
NM_001038.6(SCNN1A):c.*666T>C single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV001108977]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001108976] Chr12:6347207 [GRCh38]
Chr12:6456373 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1360+259G>A single nucleotide variant not provided [RCV001685714] Chr12:6354179 [GRCh38]
Chr12:6463345 [GRCh37]
Chr12:12p13.31
benign
NM_001038.6(SCNN1A):c.1242+54C>T single nucleotide variant not provided [RCV001725757] Chr12:6354696 [GRCh38]
Chr12:6463862 [GRCh37]
Chr12:12p13.31
benign
NM_001159575.2(SCNN1A):c.-92A>G single nucleotide variant not provided [RCV001614237] Chr12:6377358 [GRCh38]
Chr12:6486524 [GRCh37]
Chr12:12p13.31
benign
NM_001038.6(SCNN1A):c.1629+63G>A single nucleotide variant not provided [RCV001694710] Chr12:6348664 [GRCh38]
Chr12:6457830 [GRCh37]
Chr12:12p13.31
benign
NM_001038.6(SCNN1A):c.417-154G>T single nucleotide variant not provided [RCV001679470] Chr12:6363864 [GRCh38]
Chr12:6473030 [GRCh37]
Chr12:12p13.31
benign
NM_001038.6(SCNN1A):c.*467C>A single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV001113337]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001113336] Chr12:6347406 [GRCh38]
Chr12:6456572 [GRCh37]
Chr12:12p13.31
benign|uncertain significance
NM_001038.6(SCNN1A):c.-59G>C single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV001111716]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001111717] Chr12:6375509 [GRCh38]
Chr12:6484675 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.*468C>T single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV001113334]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001113335] Chr12:6347405 [GRCh38]
Chr12:6456571 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1394C>T (p.Ser465Phe) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV001113507]|Inborn genetic diseases [RCV004032165]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001111518] Chr12:6349372 [GRCh38]
Chr12:6458538 [GRCh37]
Chr12:12p13.31
likely benign|uncertain significance
NM_001038.6(SCNN1A):c.*180T>C single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV001114711]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001114710] Chr12:6347693 [GRCh38]
Chr12:6456859 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.875+2dup duplication not provided [RCV001091137] Chr12:6362048..6362049 [GRCh38]
Chr12:6471214..6471215 [GRCh37]
Chr12:12p13.31
pathogenic
NM_001038.6(SCNN1A):c.*352A>G single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV001114708]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001114709] Chr12:6347521 [GRCh38]
Chr12:6456687 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1491A>G (p.Thr497=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV001109186]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001111517] Chr12:6349170 [GRCh38]
Chr12:6458336 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3 copy number gain not provided [RCV001537906] Chr12:189145..7730395 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
NM_001038.6(SCNN1A):c.574del (p.Arg192fs) deletion Pseudohypoaldosteronism [RCV001328259]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002499461] Chr12:6363553 [GRCh38]
Chr12:6472719 [GRCh37]
Chr12:12p13.31
pathogenic
NM_001038.6(SCNN1A):c.457A>T (p.Ile153Phe) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV001353353]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002486469] Chr12:6363670 [GRCh38]
Chr12:6472836 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.754del (p.Tyr252fs) deletion not provided [RCV001382374] Chr12:6362172 [GRCh38]
Chr12:6471338 [GRCh37]
Chr12:12p13.31
pathogenic
NM_001038.6(SCNN1A):c.1439+1G>T single nucleotide variant not provided [RCV001355752] Chr12:6349326 [GRCh38]
Chr12:6458492 [GRCh37]
Chr12:12p13.31
likely pathogenic
NC_000012.11:g.(?_6438478)_(7362819_?)dup duplication Temtamy syndrome [RCV001365174] Chr12:6438478..7362819 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1361-2A>G single nucleotide variant Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001280871] Chr12:6349407 [GRCh38]
Chr12:6458573 [GRCh37]
Chr12:12p13.31
pathogenic
NM_001038.6(SCNN1A):c.1834del (p.Ser612fs) deletion Bronchiectasis with or without elevated sweat chloride 2 [RCV001337102] Chr12:6348049 [GRCh38]
Chr12:6457215 [GRCh37]
Chr12:12p13.31
pathogenic
NM_001038.6(SCNN1A):c.1553+73G>A single nucleotide variant not provided [RCV001710777] Chr12:6348877 [GRCh38]
Chr12:6458043 [GRCh37]
Chr12:12p13.31
benign
NM_001038.6(SCNN1A):c.1361-132C>T single nucleotide variant not provided [RCV001618980] Chr12:6349537 [GRCh38]
Chr12:6458703 [GRCh37]
Chr12:12p13.31
benign
NM_001038.6(SCNN1A):c.1789C>T (p.Arg597Ter) single nucleotide variant not provided [RCV001783718] Chr12:6348094 [GRCh38]
Chr12:6457260 [GRCh37]
Chr12:12p13.31
likely pathogenic
NM_001038.6(SCNN1A):c.1523G>A (p.Arg508Gln) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV001804232]|not provided [RCV004692734] Chr12:6348980 [GRCh38]
Chr12:6458146 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3 copy number gain Obesity [RCV001801197] Chr12:146240..8330229 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
NM_001038.6(SCNN1A):c.1426C>T (p.Arg476Trp) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV001804234]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002478036]|not provided [RCV002542375] Chr12:6349340 [GRCh38]
Chr12:6458506 [GRCh37]
Chr12:12p13.31
uncertain significance
NC_000012.11:g.(?_6438478)_(8248686_?)dup duplication Temtamy syndrome [RCV003120743]|not provided [RCV001913769] Chr12:6438478..8248686 [GRCh37]
Chr12:12p13.31
uncertain significance|no classifications from unflagged records
GRCh37/hg19 12p13.31(chr12:6407226-6491280)x1 copy number loss not provided [RCV001834191] Chr12:6407226..6491280 [GRCh37]
Chr12:12p13.31
uncertain significance
NC_000012.11:g.(?_6438478)_(8756953_?)dup duplication not provided [RCV001970781] Chr12:6438478..8756953 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865) copy number gain not specified [RCV002052955] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1
pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) copy number gain not specified [RCV002052958] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) copy number gain not specified [RCV002052957] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_001038.6(SCNN1A):c.1360+2T>G single nucleotide variant Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002052208] Chr12:6354436 [GRCh38]
Chr12:6463602 [GRCh37]
Chr12:12p13.31
pathogenic
NC_000012.11:g.(?_6438478)_(9027607_?)dup duplication not provided [RCV001943267] Chr12:6438478..9027607 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1762T>G (p.Phe588Val) single nucleotide variant not provided [RCV002273482] Chr12:6348121 [GRCh38]
Chr12:6457287 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.655dup (p.Trp219fs) duplication Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002282741] Chr12:6363471..6363472 [GRCh38]
Chr12:6472637..6472638 [GRCh37]
Chr12:12p13.31
likely pathogenic
NM_001038.6(SCNN1A):c.1579TTC[1] (p.Phe528del) microsatellite Neurodevelopmental delay [RCV002274369] Chr12:6348772..6348774 [GRCh38]
Chr12:6457938..6457940 [GRCh37]
Chr12:12p13.31
pathogenic
NM_001038.6(SCNN1A):c.1360+47C>T single nucleotide variant not provided [RCV002286073] Chr12:6354391 [GRCh38]
Chr12:6463557 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.1927G>T (p.Ala643Ser) single nucleotide variant not provided [RCV002292076] Chr12:6347956 [GRCh38]
Chr12:6457122 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.701C>T (p.Ser234Leu) single nucleotide variant not provided [RCV002292096] Chr12:6362225 [GRCh38]
Chr12:6471391 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.652GACTGGAAG[3] (p.Lys223_Ile224insAspTrpLys) microsatellite Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002282786] Chr12:6363457..6363458 [GRCh38]
Chr12:6472623..6472624 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3 copy number gain not provided [RCV002472514] Chr12:173787..8320544 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4 copy number gain Pallister-Killian syndrome [RCV003154827] Chr12:176047..34179852 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_001038.6(SCNN1A):c.1539C>T (p.Thr513=) single nucleotide variant not provided [RCV002995173] Chr12:6348964 [GRCh38]
Chr12:6458130 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.192C>T (p.Asn64=) single nucleotide variant not provided [RCV002967925] Chr12:6374592 [GRCh38]
Chr12:6483758 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.1242+19C>T single nucleotide variant not provided [RCV002771108] Chr12:6354731 [GRCh38]
Chr12:6463897 [GRCh37]
Chr12:12p13.31
benign
NM_001038.6(SCNN1A):c.272G>T (p.Trp91Leu) single nucleotide variant Inborn genetic diseases [RCV002733546] Chr12:6374512 [GRCh38]
Chr12:6483678 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1518A>G (p.Leu506=) single nucleotide variant not provided [RCV002771203] Chr12:6348985 [GRCh38]
Chr12:6458151 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.1576A>G (p.Ile526Val) single nucleotide variant Inborn genetic diseases [RCV002774402] Chr12:6348780 [GRCh38]
Chr12:6457946 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.128C>T (p.Ala43Val) single nucleotide variant Inborn genetic diseases [RCV004066912]|not provided [RCV002681801] Chr12:6374656 [GRCh38]
Chr12:6483822 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1858C>G (p.His620Asp) single nucleotide variant Inborn genetic diseases [RCV002882828] Chr12:6348025 [GRCh38]
Chr12:6457191 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1361-6C>G single nucleotide variant not provided [RCV002996522] Chr12:6349411 [GRCh38]
Chr12:6458577 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.835A>C (p.Ile279Leu) single nucleotide variant Inborn genetic diseases [RCV002762287] Chr12:6362091 [GRCh38]
Chr12:6471257 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1949G>A (p.Arg650His) single nucleotide variant Inborn genetic diseases [RCV002659836]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV004720385] Chr12:6347934 [GRCh38]
Chr12:6457100 [GRCh37]
Chr12:12p13.31
likely benign|uncertain significance
NM_001038.6(SCNN1A):c.875+15C>T single nucleotide variant not provided [RCV002795662] Chr12:6362036 [GRCh38]
Chr12:6471202 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.1361G>T (p.Gly454Val) single nucleotide variant not provided [RCV003100400] Chr12:6349405 [GRCh38]
Chr12:6458571 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.778C>T (p.Leu260=) single nucleotide variant not provided [RCV003080127] Chr12:6362148 [GRCh38]
Chr12:6471314 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.1931A>G (p.Tyr644Cys) single nucleotide variant not provided [RCV002621867] Chr12:6347952 [GRCh38]
Chr12:6457118 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1630-20A>G single nucleotide variant not provided [RCV002781437] Chr12:6348273 [GRCh38]
Chr12:6457439 [GRCh37]
Chr12:12p13.31
benign
NM_001038.6(SCNN1A):c.1733T>C (p.Val578Ala) single nucleotide variant Inborn genetic diseases [RCV002712510] Chr12:6348150 [GRCh38]
Chr12:6457316 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1497+19A>T single nucleotide variant not provided [RCV002805853] Chr12:6349145 [GRCh38]
Chr12:6458311 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.604C>T (p.Arg202Ter) single nucleotide variant not provided [RCV002508880] Chr12:6363523 [GRCh38]
Chr12:6472689 [GRCh37]
Chr12:12p13.31
likely pathogenic
NM_001038.6(SCNN1A):c.158G>A (p.Arg53His) single nucleotide variant Inborn genetic diseases [RCV002987806] Chr12:6374626 [GRCh38]
Chr12:6483792 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1810G>A (p.Glu604Lys) single nucleotide variant Inborn genetic diseases [RCV002804301] Chr12:6348073 [GRCh38]
Chr12:6457239 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.452A>G (p.Asp151Gly) single nucleotide variant not provided [RCV002701108] Chr12:6363675 [GRCh38]
Chr12:6472841 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1554-17T>C single nucleotide variant not provided [RCV002576039] Chr12:6348819 [GRCh38]
Chr12:6457985 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.1743C>A (p.Phe581Leu) single nucleotide variant Inborn genetic diseases [RCV002596742]|not provided [RCV002596741] Chr12:6348140 [GRCh38]
Chr12:6457306 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.758G>A (p.Arg253His) single nucleotide variant Inborn genetic diseases [RCV002956758] Chr12:6362168 [GRCh38]
Chr12:6471334 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1998G>C (p.Leu666=) single nucleotide variant not provided [RCV002766764] Chr12:6347885 [GRCh38]
Chr12:6457051 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.1540G>A (p.Val514Ile) single nucleotide variant Inborn genetic diseases [RCV002802830] Chr12:6348963 [GRCh38]
Chr12:6458129 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.980-7C>T single nucleotide variant not provided [RCV002875658] Chr12:6355442 [GRCh38]
Chr12:6464608 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.1629+3A>G single nucleotide variant not provided [RCV002626773] Chr12:6348724 [GRCh38]
Chr12:6457890 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.805T>C (p.Ser269Pro) single nucleotide variant not provided [RCV002578960] Chr12:6362121 [GRCh38]
Chr12:6471287 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1497+17G>T single nucleotide variant not provided [RCV002580902] Chr12:6349147 [GRCh38]
Chr12:6458313 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.1772G>A (p.Arg591Gln) single nucleotide variant Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV003229648]|not provided [RCV002923007] Chr12:6348111 [GRCh38]
Chr12:6457277 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.999C>T (p.Arg333=) single nucleotide variant not provided [RCV003086636] Chr12:6355416 [GRCh38]
Chr12:6464582 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.210C>T (p.Gly70=) single nucleotide variant SCNN1A-related disorder [RCV004545468]|not provided [RCV002988729] Chr12:6374574 [GRCh38]
Chr12:6483740 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.476T>A (p.Phe159Tyr) single nucleotide variant Inborn genetic diseases [RCV002896129] Chr12:6363651 [GRCh38]
Chr12:6472817 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.631C>T (p.Arg211Trp) single nucleotide variant Inborn genetic diseases [RCV002936279] Chr12:6363496 [GRCh38]
Chr12:6472662 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.166C>T (p.Arg56Ter) single nucleotide variant not provided [RCV003062479] Chr12:6374618 [GRCh38]
Chr12:6483784 [GRCh37]
Chr12:12p13.31
pathogenic
NM_001038.6(SCNN1A):c.89G>A (p.Gly30Glu) single nucleotide variant Inborn genetic diseases [RCV002919995] Chr12:6374695 [GRCh38]
Chr12:6483861 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.440T>G (p.Leu147Arg) single nucleotide variant Inborn genetic diseases [RCV002808742] Chr12:6363687 [GRCh38]
Chr12:6472853 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1246_1281dup (p.Lys427_Glu428insCysIleHisSerCysPheGlnGluSerMetIleLys) duplication not provided [RCV002634513] Chr12:6354516..6354517 [GRCh38]
Chr12:6463682..6463683 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.546G>T (p.Gly182=) single nucleotide variant not provided [RCV003069155] Chr12:6363581 [GRCh38]
Chr12:6472747 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.1568A>G (p.Lys523Arg) single nucleotide variant Inborn genetic diseases [RCV002723360] Chr12:6348788 [GRCh38]
Chr12:6457954 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1440-16C>G single nucleotide variant not provided [RCV002583841] Chr12:6349237 [GRCh38]
Chr12:6458403 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.822G>A (p.Thr274=) single nucleotide variant not provided [RCV002604669] Chr12:6362104 [GRCh38]
Chr12:6471270 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.1144-15T>C single nucleotide variant not provided [RCV002585819] Chr12:6354863 [GRCh38]
Chr12:6464029 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.799_800del (p.Leu267fs) microsatellite Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV004797322] Chr12:6362126..6362127 [GRCh38]
Chr12:6471292..6471293 [GRCh37]
Chr12:12p13.31
likely pathogenic
NM_001038.6(SCNN1A):c.8G>A (p.Gly3Glu) single nucleotide variant Inborn genetic diseases [RCV003255986] Chr12:6374776 [GRCh38]
Chr12:6483942 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.2005C>G (p.Pro669Ala) single nucleotide variant Inborn genetic diseases [RCV003193865] Chr12:6347878 [GRCh38]
Chr12:6457044 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.470C>T (p.Thr157Met) single nucleotide variant Inborn genetic diseases [RCV003219370] Chr12:6363657 [GRCh38]
Chr12:6472823 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1866G>A (p.Met622Ile) single nucleotide variant Inborn genetic diseases [RCV003220272] Chr12:6348017 [GRCh38]
Chr12:6457183 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.148del (p.Glu50fs) deletion Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV003225646] Chr12:6374636 [GRCh38]
Chr12:6483802 [GRCh37]
Chr12:12p13.31
pathogenic
NM_001038.6(SCNN1A):c.92T>C (p.Leu31Pro) single nucleotide variant Inborn genetic diseases [RCV003196390] Chr12:6374692 [GRCh38]
Chr12:6483858 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.1222C>T (p.Pro408Ser) single nucleotide variant not provided [RCV003136524] Chr12:6354770 [GRCh38]
Chr12:6463936 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1049G>A (p.Arg350Gln) single nucleotide variant not provided [RCV003136525] Chr12:6355366 [GRCh38]
Chr12:6464532 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.214A>G (p.Ile72Val) single nucleotide variant Inborn genetic diseases [RCV003198660] Chr12:6374570 [GRCh38]
Chr12:6483736 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.937_938delinsTC (p.Asn313Ser) indel not provided [RCV003228453] Chr12:6355818..6355819 [GRCh38]
Chr12:6464984..6464985 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.133G>C (p.Glu45Gln) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV003320427] Chr12:6374651 [GRCh38]
Chr12:6483817 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1298A>G (p.Tyr433Cys) single nucleotide variant Inborn genetic diseases [RCV003305139] Chr12:6354500 [GRCh38]
Chr12:6463666 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1582T>C (p.Phe528Leu) single nucleotide variant Inborn genetic diseases [RCV003263673] Chr12:6348774 [GRCh38]
Chr12:6457940 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.131A>C (p.Glu44Ala) single nucleotide variant not provided [RCV003396142] Chr12:6374653 [GRCh38]
Chr12:6483819 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1757G>A (p.Arg586Gln) single nucleotide variant Inborn genetic diseases [RCV003349859] Chr12:6348126 [GRCh38]
Chr12:6457292 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1168G>A (p.Asp390Asn) single nucleotide variant Inborn genetic diseases [RCV003354406] Chr12:6354824 [GRCh38]
Chr12:6463990 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.684+12dup duplication not provided [RCV003880085] Chr12:6363430..6363431 [GRCh38]
Chr12:6472596..6472597 [GRCh37]
Chr12:12p13.31
benign
Single allele duplication not provided [RCV003448692] Chr12:188053..34856694 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_001038.6(SCNN1A):c.652GACTGGAAG[1] (p.218DWK[1]) microsatellite not provided [RCV003482051] Chr12:6363458..6363466 [GRCh38]
Chr12:6472624..6472632 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1481C>T (p.Pro494Leu) single nucleotide variant Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV003388762]|not provided [RCV003553889] Chr12:6349180 [GRCh38]
Chr12:6458346 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.607G>T (p.Ala203Ser) single nucleotide variant SCNN1A-related disorder [RCV004527927] Chr12:6363520 [GRCh38]
Chr12:6472686 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1106T>G (p.Leu369Trp) single nucleotide variant not provided [RCV003396141] Chr12:6355309 [GRCh38]
Chr12:6464475 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.676T>C (p.Phe226Leu) single nucleotide variant not provided [RCV003441448] Chr12:6363451 [GRCh38]
Chr12:6472617 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.508C>G (p.Leu170Val) single nucleotide variant SCNN1A-related disorder [RCV004528586] Chr12:6363619 [GRCh38]
Chr12:6472785 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1828G>A (p.Ala610Thr) single nucleotide variant not provided [RCV003442392] Chr12:6348055 [GRCh38]
Chr12:6457221 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1629G>A (p.Thr543=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 2 [RCV003447744] Chr12:6348727 [GRCh38]
Chr12:6457893 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1361-3C>G single nucleotide variant Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV003883309] Chr12:6349408 [GRCh38]
Chr12:6458574 [GRCh37]
Chr12:12p13.31
pathogenic
NM_001038.6(SCNN1A):c.2004G>C (p.Gly668=) single nucleotide variant not provided [RCV003575530] Chr12:6347879 [GRCh38]
Chr12:6457045 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.1305del (p.Tyr436fs) deletion not provided [RCV003557699] Chr12:6354493 [GRCh38]
Chr12:6463659 [GRCh37]
Chr12:12p13.31
pathogenic
NM_001038.6(SCNN1A):c.306C>T (p.Phe102=) single nucleotide variant not provided [RCV003717646] Chr12:6374478 [GRCh38]
Chr12:6483644 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.1148C>T (p.Thr383Ile) single nucleotide variant not provided [RCV003668685] Chr12:6354844 [GRCh38]
Chr12:6464010 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1966T>C (p.Ser656Pro) single nucleotide variant not provided [RCV003670525] Chr12:6347917 [GRCh38]
Chr12:6457083 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1144-9G>T single nucleotide variant SCNN1A-related disorder [RCV004539096]|not provided [RCV003733466] Chr12:6354857 [GRCh38]
Chr12:6464023 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.1242+20C>T single nucleotide variant not provided [RCV003819272] Chr12:6354730 [GRCh38]
Chr12:6463896 [GRCh37]
Chr12:12p13.31
likely benign
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3 copy number gain not specified [RCV003986979] Chr12:173786..34835641 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_001038.6(SCNN1A):c.318C>T (p.Phe106=) single nucleotide variant not provided [RCV003722886] Chr12:6374466 [GRCh38]
Chr12:6483632 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.1870C>T (p.Leu624=) single nucleotide variant not provided [RCV003854299] Chr12:6348013 [GRCh38]
Chr12:6457179 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.516C>T (p.Ala172=) single nucleotide variant not provided [RCV003866141] Chr12:6363611 [GRCh38]
Chr12:6472777 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.567_568delinsTT (p.Gln189_Arg190delinsHisCys) indel not provided [RCV003735982] Chr12:6363559..6363560 [GRCh38]
Chr12:6472725..6472726 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1872G>A (p.Leu624=) single nucleotide variant not provided [RCV003821625] Chr12:6348011 [GRCh38]
Chr12:6457177 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.875+3_875+6del deletion SCNN1A-related disorder [RCV004542624] Chr12:6362045..6362048 [GRCh38]
Chr12:6471211..6471214 [GRCh37]
Chr12:12p13.31
likely pathogenic
NM_001038.6(SCNN1A):c.*3G>A single nucleotide variant SCNN1A-related disorder [RCV004545474] Chr12:6347870 [GRCh38]
Chr12:6457036 [GRCh37]
Chr12:12p13.31
likely benign
NM_001038.6(SCNN1A):c.337C>G (p.Pro113Ala) single nucleotide variant Inborn genetic diseases [RCV004454967] Chr12:6374447 [GRCh38]
Chr12:6483613 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1108C>T (p.Arg370Trp) single nucleotide variant Inborn genetic diseases [RCV004454961] Chr12:6355307 [GRCh38]
Chr12:6464473 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1697T>C (p.Val566Ala) single nucleotide variant Inborn genetic diseases [RCV004454965] Chr12:6348186 [GRCh38]
Chr12:6457352 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1859A>G (p.His620Arg) single nucleotide variant Inborn genetic diseases [RCV004454966] Chr12:6348024 [GRCh38]
Chr12:6457190 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1312C>T (p.Arg438Trp) single nucleotide variant Inborn genetic diseases [RCV004454964] Chr12:6354486 [GRCh38]
Chr12:6463652 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1183A>G (p.Thr395Ala) single nucleotide variant Inborn genetic diseases [RCV004454963] Chr12:6354809 [GRCh38]
Chr12:6463975 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1486G>A (p.Val496Met) single nucleotide variant Brugada syndrome 1 [RCV004577703] Chr12:6349175 [GRCh38]
Chr12:6458341 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.484T>C (p.Tyr162His) single nucleotide variant Inborn genetic diseases [RCV004658816] Chr12:6363643 [GRCh38]
Chr12:6472809 [GRCh37]
Chr12:12p13.31
uncertain significance
NC_000012.11:g.(?_6438478)_(6950528_?)dup duplication Lymphoproliferative syndrome 2 [RCV004578457] Chr12:6438478..6950528 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.481C>A (p.Leu161Met) single nucleotide variant Inborn genetic diseases [RCV004658817] Chr12:6363646 [GRCh38]
Chr12:6472812 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.552_553insT (p.Pro185fs) insertion Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV004698775] Chr12:6363574..6363575 [GRCh38]
Chr12:6472740..6472741 [GRCh37]
Chr12:12p13.31
pathogenic
NC_000012.11:g.(?_6457039)_(6483949_?)dup duplication not provided [RCV004578487] Chr12:6457039..6483949 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1010A>G (p.Asn337Ser) single nucleotide variant Inborn genetic diseases [RCV004674618] Chr12:6355405 [GRCh38]
Chr12:6464571 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1527G>T (p.Gln509His) single nucleotide variant Inborn genetic diseases [RCV004674619] Chr12:6348976 [GRCh38]
Chr12:6458142 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1345A>C (p.Lys449Gln) single nucleotide variant Inborn genetic diseases [RCV004674621] Chr12:6354453 [GRCh38]
Chr12:6463619 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.1109G>A (p.Arg370Gln) single nucleotide variant not specified [RCV004766726] Chr12:6355306 [GRCh38]
Chr12:6464472 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001038.6(SCNN1A):c.-54-40T>C single nucleotide variant SCNN1A-related disorder [RCV004736133] Chr12:6374877 [GRCh38]
Chr12:6484043 [GRCh37]
Chr12:12p13.31
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:8999
Count of miRNA genes:1209
Interacting mature miRNAs:1561
Transcripts:ENST00000228916, ENST00000338748, ENST00000358945, ENST00000360168, ENST00000366131, ENST00000396966, ENST00000457871, ENST00000536087, ENST00000536176, ENST00000536411, ENST00000536788, ENST00000538957, ENST00000538979, ENST00000539030, ENST00000539953, ENST00000540037, ENST00000541249, ENST00000542260, ENST00000542436, ENST00000542966, ENST00000543585, ENST00000543768, ENST00000544882, ENST00000545605
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597069493GWAS1165567_Hsusceptibility to scarlet fever measurement QTL GWAS1165567 (human)0.000008susceptibility to scarlet fever measurement1263541796354180Human
407028407GWAS677383_Hobesity QTL GWAS677383 (human)0.0000003obesity1263569156356916Human
597030739GWAS1126813_Hadverse effect, response to xenobiotic stimulus QTL GWAS1126813 (human)0.0000006adverse effect, response to xenobiotic stimulus1263635866363587Human

Markers in Region
RH80869  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37126,456,802 - 6,457,029UniSTSGRCh37
Build 36126,327,063 - 6,327,290RGDNCBI36
Celera128,073,479 - 8,073,706RGD
Cytogenetic Map12p13UniSTS
HuRef126,310,121 - 6,310,348UniSTS
GeneMap99-GB4 RH Map1236.9UniSTS
SCNN1A_3462  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37126,455,950 - 6,456,774UniSTSGRCh37
Build 36126,326,211 - 6,327,035RGDNCBI36
Celera128,072,627 - 8,073,451RGD
HuRef126,309,269 - 6,310,093UniSTS
STS-X76180  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37126,456,266 - 6,456,435UniSTSGRCh37
Build 36126,326,527 - 6,326,696RGDNCBI36
Celera128,072,943 - 8,073,112RGD
Cytogenetic Map12p13UniSTS
HuRef126,309,585 - 6,309,754UniSTS
GeneMap99-GB4 RH Map1237.53UniSTS
NCBI RH Map1294.1UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2433 2788 2235 4910 1725 2351 4 624 1650 465 2267 6976 6146 52 3677 1 851 1739 1616 172 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001159575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001159576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ002482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK172792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY365119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU680600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB232484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ402522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ515830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L29007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U81961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X76180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z92978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z92979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z92980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z92981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000228916   ⟹   ENSP00000228916
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,346,847 - 6,375,563 (-)Ensembl
Ensembl Acc Id: ENST00000338748   ⟹   ENSP00000345028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,347,509 - 6,374,803 (-)Ensembl
Ensembl Acc Id: ENST00000360168   ⟹   ENSP00000353292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,346,843 - 6,375,224 (-)Ensembl
Ensembl Acc Id: ENST00000366131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,353,717 - 6,355,436 (-)Ensembl
Ensembl Acc Id: ENST00000396966   ⟹   ENSP00000380166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,347,509 - 6,374,803 (-)Ensembl
Ensembl Acc Id: ENST00000457871
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,348,950 - 6,354,549 (-)Ensembl
Ensembl Acc Id: ENST00000536087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,355,392 - 6,356,293 (-)Ensembl
Ensembl Acc Id: ENST00000536176
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,363,633 - 6,375,379 (-)Ensembl
Ensembl Acc Id: ENST00000536411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,374,769 - 6,376,028 (-)Ensembl
Ensembl Acc Id: ENST00000536788   ⟹   ENSP00000443434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,374,369 - 6,377,730 (-)Ensembl
Ensembl Acc Id: ENST00000538957
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,374,490 - 6,377,688 (-)Ensembl
Ensembl Acc Id: ENST00000538979
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,354,436 - 6,375,434 (-)Ensembl
Ensembl Acc Id: ENST00000539030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,354,405 - 6,355,336 (-)Ensembl
Ensembl Acc Id: ENST00000539953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,348,083 - 6,349,103 (-)Ensembl
Ensembl Acc Id: ENST00000540037   ⟹   ENSP00000440876
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,346,847 - 6,364,147 (-)Ensembl
Ensembl Acc Id: ENST00000541249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,354,750 - 6,362,172 (-)Ensembl
Ensembl Acc Id: ENST00000542260
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,374,448 - 6,375,563 (-)Ensembl
Ensembl Acc Id: ENST00000542436
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,374,466 - 6,375,213 (-)Ensembl
Ensembl Acc Id: ENST00000542966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,355,337 - 6,363,625 (-)Ensembl
Ensembl Acc Id: ENST00000543585
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,374,366 - 6,375,218 (-)Ensembl
Ensembl Acc Id: ENST00000543768   ⟹   ENSP00000438739
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,347,684 - 6,377,359 (-)Ensembl
Ensembl Acc Id: ENST00000544882
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,363,546 - 6,375,563 (-)Ensembl
Ensembl Acc Id: ENST00000545605
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,374,626 - 6,377,690 (-)Ensembl
RefSeq Acc Id: NM_001038   ⟹   NP_001029
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,346,847 - 6,375,563 (-)NCBI
GRCh37126,456,009 - 6,486,896 (-)NCBI
Build 36126,326,274 - 6,354,976 (-)NCBI Archive
HuRef126,309,328 - 6,340,388 (-)ENTREZGENE
CHM1_1126,455,271 - 6,484,087 (-)NCBI
T2T-CHM13v2.0126,356,269 - 6,385,621 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001159575   ⟹   NP_001153047
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,346,847 - 6,377,359 (-)NCBI
GRCh37126,456,009 - 6,486,896 (-)NCBI
HuRef126,309,328 - 6,340,388 (-)ENTREZGENE
CHM1_1126,455,271 - 6,485,705 (-)NCBI
T2T-CHM13v2.0126,356,269 - 6,387,417 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001159576   ⟹   NP_001153048
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,346,847 - 6,375,450 (-)NCBI
GRCh37126,456,009 - 6,486,896 (-)NCBI
HuRef126,309,328 - 6,340,388 (-)ENTREZGENE
CHM1_1126,455,271 - 6,483,572 (-)NCBI
T2T-CHM13v2.0126,356,269 - 6,385,508 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001153047   ⟸   NM_001159575
- Peptide Label: isoform 3
- UniProtKB: C5HTY8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001029   ⟸   NM_001038
- Peptide Label: isoform 1
- UniProtKB: P37088 (UniProtKB/Swiss-Prot),   Q6GSQ6 (UniProtKB/Swiss-Prot),   O43271 (UniProtKB/Swiss-Prot),   C5HTZ0 (UniProtKB/Swiss-Prot),   B4E2Q5 (UniProtKB/Swiss-Prot),   A5X2U9 (UniProtKB/Swiss-Prot),   Q9UM64 (UniProtKB/Swiss-Prot),   C5HTY9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001153048   ⟸   NM_001159576
- Peptide Label: isoform 2
- UniProtKB: C5HTY8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000228916   ⟸   ENST00000228916
Ensembl Acc Id: ENSP00000438739   ⟸   ENST00000543768
Ensembl Acc Id: ENSP00000353292   ⟸   ENST00000360168
Ensembl Acc Id: ENSP00000345028   ⟸   ENST00000338748
Ensembl Acc Id: ENSP00000443434   ⟸   ENST00000536788
Ensembl Acc Id: ENSP00000380166   ⟸   ENST00000396966
Ensembl Acc Id: ENSP00000440876   ⟸   ENST00000540037

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P37088-F1-model_v2 AlphaFold P37088 1-669 view protein structure

Promoters
RGD ID:6790466
Promoter ID:HG_KWN:14804
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:UC001QNV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36126,342,756 - 6,343,256 (-)MPROMDB
RGD ID:6790467
Promoter ID:HG_KWN:14805
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000338748,   ENST00000358945,   NM_001038,   NM_001159576
Position:
Human AssemblyChrPosition (strand)Source
Build 36126,355,876 - 6,356,376 (-)MPROMDB
RGD ID:6790464
Promoter ID:HG_KWN:14806
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_001159575
Position:
Human AssemblyChrPosition (strand)Source
Build 36126,357,026 - 6,357,526 (-)MPROMDB
RGD ID:7222851
Promoter ID:EPDNEW_H17171
Type:initiation region
Name:SCNN1A_3
Description:sodium channel epithelial 1 alpha subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17172  EPDNEW_H17173  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,362,049 - 6,362,109EPDNEW
RGD ID:7222853
Promoter ID:EPDNEW_H17172
Type:initiation region
Name:SCNN1A_2
Description:sodium channel epithelial 1 alpha subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17171  EPDNEW_H17173  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,375,220 - 6,375,280EPDNEW
RGD ID:7222855
Promoter ID:EPDNEW_H17173
Type:initiation region
Name:SCNN1A_1
Description:sodium channel epithelial 1 alpha subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17171  EPDNEW_H17172  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,375,450 - 6,375,510EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10599 AgrOrtholog
COSMIC SCNN1A COSMIC
Ensembl Genes ENSG00000111319 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000228916 ENTREZGENE
  ENST00000228916.7 UniProtKB/Swiss-Prot
  ENST00000338748.9 UniProtKB/TrEMBL
  ENST00000360168 ENTREZGENE
  ENST00000360168.7 UniProtKB/Swiss-Prot
  ENST00000396966.6 UniProtKB/TrEMBL
  ENST00000536788.1 UniProtKB/TrEMBL
  ENST00000540037.5 UniProtKB/TrEMBL
  ENST00000543768 ENTREZGENE
  ENST00000543768.1 UniProtKB/Swiss-Prot
Gene3D-CATH Acid-sensing ion channel domain UniProtKB/TrEMBL
  Acid-sensing ion channels like domains UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  YojJ-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000111319 GTEx
HGNC ID HGNC:10599 ENTREZGENE
Human Proteome Map SCNN1A Human Proteome Map
InterPro ENaC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENaC_chordates UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENaC_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6337 UniProtKB/Swiss-Prot
NCBI Gene 6337 ENTREZGENE
OMIM 600228 OMIM
PANTHER AMILORIDE-SENSITIVE SODIUM CHANNEL SUBUNIT ALPHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11690 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ASC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA305 PharmGKB, RGD
PRINTS AMINACHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ASC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A5X2U9 ENTREZGENE
  B4E2Q5 ENTREZGENE
  C5HTY8 ENTREZGENE, UniProtKB/TrEMBL
  C5HTY9 ENTREZGENE, UniProtKB/TrEMBL
  C5HTZ0 ENTREZGENE
  C5HTZ1_HUMAN UniProtKB/TrEMBL
  F5GXE6_HUMAN UniProtKB/TrEMBL
  F5H5F8_HUMAN UniProtKB/TrEMBL
  J3KPV6_HUMAN UniProtKB/TrEMBL
  O43271 ENTREZGENE
  P37088 ENTREZGENE
  Q6GSQ6 ENTREZGENE
  Q6UP09_HUMAN UniProtKB/TrEMBL
  Q9UM64 ENTREZGENE
  SCNNA_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A5X2U9 UniProtKB/Swiss-Prot
  B4E2Q5 UniProtKB/Swiss-Prot
  C5HTZ0 UniProtKB/Swiss-Prot
  O43271 UniProtKB/Swiss-Prot
  Q6GSQ6 UniProtKB/Swiss-Prot
  Q9UM64 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-12-03 SCNN1A  sodium channel epithelial 1 subunit alpha  SCNN1A  sodium channel epithelial 1 alpha subunit  Symbol and/or name change 5135510 APPROVED
2016-02-10 SCNN1A  sodium channel epithelial 1 alpha subunit  SCNN1A  sodium channel, non voltage gated 1 alpha subunit  Symbol and/or name change 5135510 APPROVED
2015-01-20 SCNN1A  sodium channel, non voltage gated 1 alpha subunit  SCNN1A  sodium channel, non-voltage-gated 1 alpha subunit  Symbol and/or name change 5135510 APPROVED
2012-03-01 SCNN1A  sodium channel, non-voltage-gated 1 alpha subunit  SCNN1A  sodium channel, nonvoltage-gated 1 alpha  Symbol and/or name change 5135510 APPROVED