SCNN1G (sodium channel epithelial 1 subunit gamma) - Rat Genome Database

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Gene: SCNN1G (sodium channel epithelial 1 subunit gamma) Homo sapiens
Analyze
Symbol: SCNN1G
Name: sodium channel epithelial 1 subunit gamma
RGD ID: 732847
HGNC Page HGNC:10602
Description: Enables WW domain binding activity and monoatomic ion channel activity. Contributes to ligand-gated 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 extracellular exosome; nucleoplasm; and sodium channel complex. Implicated in Liddle syndrome; bronchiectasis 3; and pseudohypoaldosteronism.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: amiloride-sensitive epithelial sodium channel gamma subunit; amiloride-sensitive sodium channel gamma-subunit; amiloride-sensitive sodium channel subunit gamma; BESC3; ENaC gamma subunit; ENaCg; ENaCgamma; epithelial Na(+) channel subunit gamma; gamma-ENaC; gamma-NaCH; LDLS2; nonvoltage-gated sodium channel 1 subunit gamma; PHA1; PHA1B3; SCNEG; sodium channe epithelial 1 gamma subunit; sodium channel epithelial 1 gamma subunit; sodium channel, non voltage gated 1 gamma subunit; sodium channel, non-voltage-gated 1, gamma subunit; sodium channel, nonvoltage-gated 1, gamma
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381623,182,745 - 23,216,883 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1623,182,745 - 23,216,883 (+)EnsemblGRCh38hg38GRCh38
GRCh371623,194,066 - 23,228,204 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361623,101,541 - 23,135,701 (+)NCBINCBI36Build 36hg18NCBI36
Build 341623,101,540 - 23,135,701NCBI
Celera1621,971,795 - 22,005,983 (+)NCBICelera
Cytogenetic Map16p12.2NCBI
HuRef1621,283,200 - 21,317,389 (+)NCBIHuRef
CHM1_11624,204,072 - 24,239,947 (+)NCBICHM1_1
T2T-CHM13v2.01623,458,746 - 23,492,881 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
17beta-estradiol  (EXP)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4,4'-sulfonyldiphenol  (EXP)
6-propyl-2-thiouracil  (ISO)
8-(4-chlorophenylthio)-cAMP  (ISO)
8-(4-chlorophenylthio)-cGMP  (EXP)
acetylleucyl-leucyl-norleucinal  (EXP)
actinomycin D  (EXP)
aflatoxin B1  (EXP)
aldosterone  (EXP)
all-trans-retinoic acid  (EXP)
amiloride  (EXP,ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
brefeldin A  (ISO)
CGP 52608  (EXP)
cisplatin  (EXP)
cortisol  (EXP)
crocidolite asbestos  (ISO)
desmopressin  (ISO)
dexamethasone  (EXP,ISO)
dichloroacetic acid  (ISO)
dioxygen  (EXP,ISO)
dobutamine  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
fulvestrant  (EXP)
gentamycin  (ISO)
iodide salt  (ISO)
lithium atom  (EXP,ISO)
lithium hydride  (EXP,ISO)
manganese(II) chloride  (ISO)
mercury dichloride  (ISO)
methimazole  (ISO)
methoxychlor  (ISO)
N-ethyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
nitrates  (ISO)
nitrofen  (ISO)
ozone  (ISO)
panobinostat  (EXP)
paraquat  (ISO)
perfluorohexanesulfonic acid  (ISO)
phenethyl caffeate  (ISO)
pioglitazone  (ISO)
pirinixic acid  (ISO)
potassium atom  (EXP)
progesterone  (ISO)
quercetin  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP)
sodium atom  (EXP,ISO)
sodium chloride  (ISO)
sodium fluoride  (ISO)
sulfadimethoxine  (ISO)
terbutaline  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thiourea  (ISO)
titanium dioxide  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
zoledronic acid  (EXP)

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  (IAGP)
Abnormal respiratory system physiology  (IAGP)
Acute infectious pneumonia  (IAGP)
Arrhythmia  (IAGP)
Atopic dermatitis  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bronchiectasis  (IAGP)
Cachexia  (IAGP)
Cerebral ischemia  (IAGP)
Chest pain  (IAGP)
Cholelithiasis  (IAGP)
Chronic bronchitis  (IAGP)
Clubbing  (IAGP)
Constipation  (IAGP)
Cough  (IAGP)
Crackles  (IAGP)
Decreased circulating aldosterone level  (IAGP)
Decreased circulating renin level  (IAGP)
Dehydration  (IAGP)
Dyspnea  (IAGP)
Emphysema  (IAGP)
Failure to thrive in infancy  (IAGP)
Fatigue  (IAGP)
Feeding difficulties in infancy  (IAGP)
Fever  (IAGP)
Glucocortocoid-insensitive primary hyperaldosteronism  (IAGP)
Halitosis  (IAGP)
Hemoptysis  (IAGP)
Hyperaldosteronism  (IAGP)
Hyperkalemia  (IAGP)
Hypertension  (IAGP)
Hypokalemia  (IAGP)
Hyponatremia  (IAGP)
Hypovolemic shock  (IAGP)
Increased circulating renin level  (IAGP)
Juvenile onset  (IAGP)
Metabolic acidosis  (IAGP)
Metabolic alkalosis  (IAGP)
Muscle weakness  (IAGP)
Myocardial infarction  (IAGP)
Neonatal onset  (IAGP)
Nephropathy  (IAGP)
Osteomyelitis  (IAGP)
Productive cough  (IAGP)
Proportionate short stature  (IAGP)
Pustule  (IAGP)
Recurrent Haemophilus influenzae infections  (IAGP)
Recurrent lower respiratory tract infections  (IAGP)
Recurrent tonsillitis  (IAGP)
Recurrent upper and lower respiratory tract infections  (IAGP)
Reduced FEV1/FVC ratio  (IAGP)
Renal insufficiency  (IAGP)
Respiratory tract infection  (IAGP)
Vomiting  (IAGP)
Weight loss  (IAGP)
Wheezing  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome. Hansson JH, etal., Nat Genet 1995 Sep;11(1):76-82.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9. A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families. Strautnieks SS, etal., Nat Genet. 1996 Jun;13(2):248-50.
Additional References at PubMed
PMID:7490094   PMID:7499195   PMID:7762608   PMID:8521520   PMID:8824247   PMID:8986818   PMID:9169421   PMID:9351815   PMID:10212229   PMID:10391210   PMID:10404817   PMID:10409621  
PMID:10642508   PMID:10727408   PMID:11180614   PMID:11244092   PMID:11359767   PMID:11463765   PMID:11802777   PMID:11805112   PMID:11845306   PMID:11906720   PMID:12107247   PMID:12167593  
PMID:12473862   PMID:12477932   PMID:12548396   PMID:12562778   PMID:12876068   PMID:14645214   PMID:14996668   PMID:15188166   PMID:15198480   PMID:15326289   PMID:15328345   PMID:15489334  
PMID:15596218   PMID:15661075   PMID:15702377   PMID:15864129   PMID:16172412   PMID:16416336   PMID:16423824   PMID:16463024   PMID:16574660   PMID:16630545   PMID:16716084   PMID:16844684  
PMID:17013377   PMID:17199078   PMID:17241874   PMID:17381423   PMID:17434346   PMID:17460608   PMID:17510235   PMID:17560176   PMID:17698725   PMID:17766193   PMID:17998393   PMID:18443236  
PMID:18507830   PMID:18665318   PMID:18701608   PMID:18981180   PMID:18990692   PMID:19017867   PMID:19073825   PMID:19300301   PMID:19359370   PMID:19462466   PMID:19561078   PMID:19763606  
PMID:19779464   PMID:19913121   PMID:19948975   PMID:20106988   PMID:20376790   PMID:20519934   PMID:20628086   PMID:20953144   PMID:21307123   PMID:21478478   PMID:21562341   PMID:21667229  
PMID:21775436   PMID:21873635   PMID:22006290   PMID:22167092   PMID:22207244   PMID:22374202   PMID:22493497   PMID:22526458   PMID:22864553   PMID:22983350   PMID:23060445   PMID:23136006  
PMID:23218889   PMID:23297398   PMID:23594824   PMID:24124190   PMID:24419567   PMID:24692558   PMID:24735600   PMID:25060057   PMID:25231509   PMID:25378078   PMID:25450293   PMID:25555911  
PMID:25559464   PMID:25900089   PMID:25969425   PMID:26344197   PMID:26437894   PMID:26759146   PMID:26772908   PMID:27903760   PMID:27941075   PMID:28137758   PMID:29036630   PMID:29358325  
PMID:29363322   PMID:29757959   PMID:29987050   PMID:29997525   PMID:30021884   PMID:31655555   PMID:31936044   PMID:32161960   PMID:32341072   PMID:33916525   PMID:34755678   PMID:36327816  
PMID:36724073  


Genomics

Comparative Map Data
SCNN1G
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381623,182,745 - 23,216,883 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1623,182,745 - 23,216,883 (+)EnsemblGRCh38hg38GRCh38
GRCh371623,194,066 - 23,228,204 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361623,101,541 - 23,135,701 (+)NCBINCBI36Build 36hg18NCBI36
Build 341623,101,540 - 23,135,701NCBI
Celera1621,971,795 - 22,005,983 (+)NCBICelera
Cytogenetic Map16p12.2NCBI
HuRef1621,283,200 - 21,317,389 (+)NCBIHuRef
CHM1_11624,204,072 - 24,239,947 (+)NCBICHM1_1
T2T-CHM13v2.01623,458,746 - 23,492,881 (+)NCBIT2T-CHM13v2.0
Scnn1g
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397121,333,643 - 121,367,705 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7121,333,702 - 121,367,698 (+)EnsemblGRCm39 Ensembl
GRCm387121,734,420 - 121,768,482 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7121,734,479 - 121,768,475 (+)EnsemblGRCm38mm10GRCm38
MGSCv377128,878,021 - 128,911,991 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367121,525,655 - 121,559,625 (+)NCBIMGSCv36mm8
Celera7121,627,304 - 121,655,746 (+)NCBICelera
Cytogenetic Map7F2NCBI
cM Map765.07NCBI
Scnn1g
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81185,736,225 - 185,770,099 (+)NCBIGRCr8
mRatBN7.21176,304,942 - 176,338,816 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1176,304,942 - 176,338,816 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1184,638,693 - 184,672,499 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01191,824,639 - 191,858,441 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01184,509,747 - 184,543,391 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01191,704,397 - 191,738,271 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1191,704,311 - 191,738,268 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01198,620,974 - 198,655,013 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41180,555,660 - 180,589,534 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11180,695,574 - 180,729,447 (+)NCBI
Celera1174,023,130 - 174,057,000 (+)NCBICelera
Cytogenetic Map1q36NCBI
Scnn1g
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554931,784,885 - 1,813,205 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554931,787,693 - 1,813,085 (+)NCBIChiLan1.0ChiLan1.0
SCNN1G
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21824,587,647 - 24,628,257 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11629,115,419 - 29,149,991 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01614,893,631 - 14,928,402 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11623,435,793 - 23,469,969 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1623,435,793 - 23,469,969 (+)Ensemblpanpan1.1panPan2
SCNN1G
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1622,566,568 - 22,593,479 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl622,567,711 - 22,593,503 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha624,133,974 - 24,160,890 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0622,710,568 - 22,737,530 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl622,710,570 - 22,737,607 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1622,514,929 - 22,541,871 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0622,418,178 - 22,445,130 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0622,812,745 - 22,839,705 (-)NCBIUU_Cfam_GSD_1.0
Scnn1g
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344119,830,809 - 119,861,302 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365017,932,703 - 7,958,204 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365017,932,729 - 7,958,146 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SCNN1G
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl322,977,947 - 23,013,384 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1322,977,940 - 23,013,384 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2323,444,625 - 23,480,163 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SCNN1G
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1520,860,062 - 20,924,628 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl520,891,416 - 20,924,819 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660688,937,927 - 8,971,502 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Scnn1g
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247828,424,270 - 8,452,824 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247828,424,192 - 8,452,686 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SCNN1G
197 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001039.4(SCNN1G):c.1570-1G>A single nucleotide variant Pseudohypoaldosteronism, type IB3, autosomal recessive [RCV002310624] Chr16:23215088 [GRCh38]
Chr16:23226409 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_001039.4(SCNN1G):c.318-1G>A single nucleotide variant Pseudohypoaldosteronism, type IB3, autosomal recessive [RCV002310625] Chr16:23189370 [GRCh38]
Chr16:23200691 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_001039.4(SCNN1G):c.1627del (p.Val543fs) deletion Pseudohypoaldosteronism, type IB3, autosomal recessive [RCV002310626] Chr16:23215146 [GRCh38]
Chr16:23226467 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_001039.4(SCNN1G):c.1550T>C (p.Met517Thr) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000764039]|not provided [RCV000519048] Chr16:23214768 [GRCh38]
Chr16:23226089 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001039.4(SCNN1G):c.1718G>A (p.Trp573Ter) single nucleotide variant Liddle syndrome 2 [RCV000009372] Chr16:23215237 [GRCh38]
Chr16:23226558 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000272918]|Bronchiectasis with or without elevated sweat chloride 3 [RCV000009376]|Liddle syndrome 2 [RCV000328044]|SCNN1G-related condition [RCV003924821]|not provided [RCV000224250]|not specified [RCV000609005] Chr16:23189600 [GRCh38]
Chr16:23200921 [GRCh37]
Chr16:16p12.2		 pathogenic|benign|likely benign
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000388570]|Autosomal recessive pseudohypoaldosteronism type 1 [RCV002490346]|Bronchiectasis with or without elevated sweat chloride 3 [RCV000009377]|Liddle syndrome 2 [RCV000334111]|not provided [RCV000713392]|not specified [RCV000250994] Chr16:23189642 [GRCh38]
Chr16:23200963 [GRCh37]
Chr16:16p12.2		 pathogenic|benign|likely benign
GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3 copy number gain See cases [RCV000051828] Chr16:14954894..28306843 [GRCh38]
Chr16:15048751..28318164 [GRCh37]
Chr16:14956252..28225665 [NCBI36]
Chr16:16p13.11-12.1		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3 copy number gain See cases [RCV000051829] Chr16:21463739..29249579 [GRCh38]
Chr16:21475060..29260900 [GRCh37]
Chr16:21382561..29168401 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3 copy number gain See cases [RCV000051842] Chr16:21602183..29314373 [GRCh38]
Chr16:21613504..29325694 [GRCh37]
Chr16:21521005..29233195 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3 copy number gain See cases [RCV000052401] Chr16:23047969..30632245 [GRCh38]
Chr16:23059290..30643566 [GRCh37]
Chr16:22966791..30551067 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1 copy number loss See cases [RCV000052519] Chr16:21600992..28323344 [GRCh38]
Chr16:21612313..28334665 [GRCh37]
Chr16:21519814..28242166 [NCBI36]
Chr16:16p12.2-12.1		 pathogenic
GRCh38/hg38 16p12.2(chr16:22755932-23546240)x3 copy number gain See cases [RCV000053859] Chr16:22755932..23546240 [GRCh38]
Chr16:22767253..23557561 [GRCh37]
Chr16:22674754..23465062 [NCBI36]
Chr16:16p12.2		 uncertain significance
NM_001039.3(SCNN1G):c.405G>A (p.Arg135=) single nucleotide variant Malignant melanoma [RCV000071042] Chr16:23189458 [GRCh38]
Chr16:23200779 [GRCh37]
Chr16:23108280 [NCBI36]
Chr16:16p12.2		 not provided
NM_001039.3(SCNN1G):c.413G>A (p.Arg138Gln) single nucleotide variant Malignant melanoma [RCV000071043] Chr16:23189466 [GRCh38]
Chr16:23200787 [GRCh37]
Chr16:23108288 [NCBI36]
Chr16:16p12.2		 not provided
NM_001039.3(SCNN1G):c.534G>A (p.Arg178=) single nucleotide variant Malignant melanoma [RCV000071044] Chr16:23189587 [GRCh38]
Chr16:23200908 [GRCh37]
Chr16:23108409 [NCBI36]
Chr16:16p12.2		 not provided
NM_001039.3(SCNN1G):c.569C>T (p.Ala190Val) single nucleotide variant Malignant melanoma [RCV000071045] Chr16:23189622 [GRCh38]
Chr16:23200943 [GRCh37]
Chr16:23108444 [NCBI36]
Chr16:16p12.2		 not provided
NM_001039.3(SCNN1G):c.1067G>A (p.Gly356Glu) single nucleotide variant Malignant melanoma [RCV000071046] Chr16:23197417 [GRCh38]
Chr16:23208738 [GRCh37]
Chr16:23116239 [NCBI36]
Chr16:16p12.2		 not provided
NM_001039.3(SCNN1G):c.334C>T (p.His112Tyr) single nucleotide variant Malignant melanoma [RCV000063003] Chr16:23189387 [GRCh38]
Chr16:23200708 [GRCh37]
Chr16:23108209 [NCBI36]
Chr16:16p12.2		 not provided
NM_001039.3(SCNN1G):c.1013C>T (p.Pro338Leu) single nucleotide variant Malignant melanoma [RCV000063004] Chr16:23197363 [GRCh38]
Chr16:23208684 [GRCh37]
Chr16:23116185 [NCBI36]
Chr16:16p12.2		 not provided
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 copy number gain See cases [RCV000133809] Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2		 pathogenic
NM_001039.4(SCNN1G):c.1824T>C (p.Ala608=) single nucleotide variant not provided [RCV000174502] Chr16:23215343 [GRCh38]
Chr16:23226664 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3 copy number gain See cases [RCV000135594] Chr16:22634385..29227323 [GRCh38]
Chr16:22645706..29238644 [GRCh37]
Chr16:22553207..29146145 [NCBI36]
Chr16:16p12.2-11.2		 likely pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3 copy number gain See cases [RCV000140235] Chr16:21350622..29202837 [GRCh38]
Chr16:21361943..29214158 [GRCh37]
Chr16:21269444..29121659 [NCBI36]
Chr16:16p12.2-11.2		 likely pathogenic
NM_001039.4(SCNN1G):c.387T>C (p.Tyr129=) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000328934]|Liddle syndrome 2 [RCV000383542]|not provided [RCV000710224]|not specified [RCV000151819] Chr16:23189440 [GRCh38]
Chr16:23200761 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.474T>C (p.Ile158=) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000355585]|Liddle syndrome 2 [RCV000300778]|not provided [RCV000710225]|not specified [RCV000151820] Chr16:23189527 [GRCh38]
Chr16:23200848 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.549C>T (p.Gly183=) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000387398]|Liddle syndrome 2 [RCV000293041]|not provided [RCV000713391]|not specified [RCV000151821] Chr16:23189602 [GRCh38]
Chr16:23200923 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.1432-7G>A single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000277495]|Bronchiectasis with or without elevated sweat chloride 3 [RCV001807095]|Liddle syndrome 2 [RCV000316196]|not provided [RCV000713395]|not specified [RCV000151822] Chr16:23213095 [GRCh38]
Chr16:23224416 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.1176+14A>G single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000309447]|Bronchiectasis with or without elevated sweat chloride 3 [RCV001807096]|Liddle syndrome 2 [RCV000391223]|not provided [RCV001594858]|not specified [RCV000151823] Chr16:23209862 [GRCh38]
Chr16:23221183 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.1947C>G (p.Leu649=) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000309769]|Bronchiectasis with or without elevated sweat chloride 3 [RCV001807097]|Liddle syndrome 2 [RCV000348242]|not provided [RCV000710223]|not specified [RCV000151824] Chr16:23215466 [GRCh38]
Chr16:23226787 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.636C>T (p.Ser212=) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000280259]|Liddle syndrome 2 [RCV000335344]|not provided [RCV000713393]|not specified [RCV000155573] Chr16:23192369 [GRCh38]
Chr16:23203690 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_001039.4(SCNN1G):c.1575G>A (p.Glu525=) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000284257]|Liddle syndrome 2 [RCV000341572]|SCNN1G-related condition [RCV003930124]|not provided [RCV000725881]|not specified [RCV000278515] Chr16:23215094 [GRCh38]
Chr16:23226415 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3 copy number gain Breast ductal adenocarcinoma [RCV000207226] Chr16:19590412..29814175 [GRCh37]
Chr16:16p12.3-11.2		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
NM_001039.4(SCNN1G):c.*659T>C single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000300448]|Liddle syndrome 2 [RCV000398594]|not provided [RCV001613023] Chr16:23216128 [GRCh38]
Chr16:23227449 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.*675A>G single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000357562]|Liddle syndrome 2 [RCV000265167]|not provided [RCV001653559] Chr16:23216144 [GRCh38]
Chr16:23227465 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.*1369C>T single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000340876]|Liddle syndrome 2 [RCV000283583]|not provided [RCV001675808] Chr16:23216838 [GRCh38]
Chr16:23228159 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.477G>A (p.Pro159=) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000302328]|Liddle syndrome 2 [RCV000407520]|not provided [RCV003417993] Chr16:23189530 [GRCh38]
Chr16:23200851 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_001039.4(SCNN1G):c.538C>T (p.Arg180Trp) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000266905]|Liddle syndrome 2 [RCV000361738]|not provided [RCV002508210] Chr16:23189591 [GRCh38]
Chr16:23200912 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_001039.4(SCNN1G):c.-31A>G single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000267876]|Liddle syndrome 2 [RCV000322965]|not provided [RCV001653557] Chr16:23186241 [GRCh38]
Chr16:23197562 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.*268G>A single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000268141]|Liddle syndrome 2 [RCV000379066]|not provided [RCV001613022] Chr16:23215737 [GRCh38]
Chr16:23227058 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.*789T>C single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000305014]|Liddle syndrome 2 [RCV000362088] Chr16:23216258 [GRCh38]
Chr16:23227579 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.*789_*790delinsCT indel Autosomal recessive pseudohypoaldosteronism type 1 [RCV000327157]|Liddle syndrome 1 [RCV000269807] Chr16:23216258..23216259 [GRCh38]
Chr16:23227579..23227580 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.-23G>A single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000382328]|Liddle syndrome 2 [RCV000287935] Chr16:23186249 [GRCh38]
Chr16:23197570 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_001039.4(SCNN1G):c.1589A>G (p.Asn530Ser) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000379928]|Bronchiectasis with or without elevated sweat chloride 3 [RCV001200889]|Liddle syndrome 2 [RCV000287850]|not provided [RCV002522828] Chr16:23215108 [GRCh38]
Chr16:23226429 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_001039.4(SCNN1G):c.*572A>G single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000290607]|Liddle syndrome 2 [RCV000347941]|not provided [RCV001690059] Chr16:23216041 [GRCh38]
Chr16:23227362 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.*790C>T single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000273125]|Liddle syndrome 2 [RCV000365324] Chr16:23216259 [GRCh38]
Chr16:23227580 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.1187A>G (p.His396Arg) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000274328]|Autosomal recessive pseudohypoaldosteronism type 1 [RCV002495002]|Bronchiectasis with or without elevated sweat chloride 3 [RCV001329526]|Liddle syndrome 2 [RCV000366583] Chr16:23212044 [GRCh38]
Chr16:23223365 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.399G>A (p.Glu133=) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000293883]|Liddle syndrome 2 [RCV000348767] Chr16:23189452 [GRCh38]
Chr16:23200773 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_001039.4(SCNN1G):c.435C>T (p.Ser145=) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000294984]|Autosomal recessive pseudohypoaldosteronism type 1 [RCV002495001]|Liddle syndrome 2 [RCV000390088]|not provided [RCV000971805]|not specified [RCV000602942] Chr16:23189488 [GRCh38]
Chr16:23200809 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_001039.4(SCNN1G):c.*154G>T single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000370678]|Liddle syndrome 2 [RCV000259732] Chr16:23215623 [GRCh38]
Chr16:23226944 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.*1147A>G single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000295220]|Liddle syndrome 2 [RCV000333799] Chr16:23216616 [GRCh38]
Chr16:23227937 [GRCh37]
Chr16:16p12.2		 benign|uncertain significance
NM_001039.4(SCNN1G):c.1452C>A (p.Leu484=) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000373430]|Liddle syndrome 2 [RCV000262450]|not provided [RCV000934297] Chr16:23213122 [GRCh38]
Chr16:23224443 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_001039.4(SCNN1G):c.*606T>A single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000336441]|Liddle syndrome 2 [RCV000297822]|not provided [RCV001653558] Chr16:23216075 [GRCh38]
Chr16:23227396 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.*236C>T single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000320650]|Liddle syndrome 2 [RCV000263142]|not provided [RCV001683282] Chr16:23215705 [GRCh38]
Chr16:23227026 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.*1198A>T single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000279853]|Liddle syndrome 2 [RCV000372061] Chr16:23216667 [GRCh38]
Chr16:23227988 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_001039.4(SCNN1G):c.*159T>G single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000355503]|Liddle syndrome 2 [RCV000298351]|not provided [RCV001672521] Chr16:23215628 [GRCh38]
Chr16:23226949 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.1569+10G>A single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000376818]|Liddle syndrome 2 [RCV000319801]|not provided [RCV000713396] Chr16:23214797 [GRCh38]
Chr16:23226118 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.146_149dup (p.Leu51fs) duplication not provided [RCV000271903] Chr16:23186414..23186415 [GRCh38]
Chr16:23197735..23197736 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_001039.4(SCNN1G):c.342A>G (p.Leu114=) single nucleotide variant not provided [RCV000336032] Chr16:23189395 [GRCh38]
Chr16:23200716 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.-44-4C>G single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000376481]|Liddle syndrome 2 [RCV000321774]|not provided [RCV001540327] Chr16:23186224 [GRCh38]
Chr16:23197545 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.663G>T (p.Ser221=) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000400255]|Liddle syndrome 2 [RCV000281595] Chr16:23192396 [GRCh38]
Chr16:23203717 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.1827G>C (p.Leu609Phe) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000345193]|Liddle syndrome 2 [RCV000398385]|SCNN1G-related condition [RCV003969899]|not provided [RCV002522829] Chr16:23215346 [GRCh38]
Chr16:23226667 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_001039.4(SCNN1G):c.*328G>A single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000382449]|Liddle syndrome 2 [RCV000325546] Chr16:23215797 [GRCh38]
Chr16:23227118 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_001039.4(SCNN1G):c.539G>A (p.Arg180Gln) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000362908]|Autosomal recessive pseudohypoaldosteronism type 1 [RCV002480141]|Liddle syndrome 2 [RCV000326894]|not provided [RCV002522827] Chr16:23189592 [GRCh38]
Chr16:23200913 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_001039.4(SCNN1G):c.1083G>A (p.Glu361=) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000363169]|Liddle syndrome 2 [RCV000306115] Chr16:23209755 [GRCh38]
Chr16:23221076 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.*1370G>A single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000306591]|Liddle syndrome 2 [RCV000401574] Chr16:23216839 [GRCh38]
Chr16:23228160 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_001039.4(SCNN1G):c.*979T>C single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000387406]|Liddle syndrome 2 [RCV000330550] Chr16:23216448 [GRCh38]
Chr16:23227769 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_001039.4(SCNN1G):c.699C>T (p.His233=) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV002494851]|not provided [RCV000893341]|not specified [RCV000283771] Chr16:23192432 [GRCh38]
Chr16:23203753 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_001039.4(SCNN1G):c.*106G>A single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000313805]|Liddle syndrome 2 [RCV000393531] Chr16:23215575 [GRCh38]
Chr16:23226896 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.446G>C (p.Gly149Ala) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000335799]|Liddle syndrome 2 [RCV000407524] Chr16:23189499 [GRCh38]
Chr16:23200820 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.*1261G>A single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000337435]|Liddle syndrome 2 [RCV000400777]|not provided [RCV002278427] Chr16:23216730 [GRCh38]
Chr16:23228051 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_001039.4(SCNN1G):c.776C>A (p.Thr259Asn) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000341227]|Liddle syndrome 2 [RCV000399950]|not provided [RCV000713394]|not specified [RCV003479098] Chr16:23192509 [GRCh38]
Chr16:23203830 [GRCh37]
Chr16:16p12.2		 benign|uncertain significance
NM_001039.4(SCNN1G):c.1378A>G (p.Lys460Glu) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000331483]|Liddle syndrome 2 [RCV000369883] Chr16:23212841 [GRCh38]
Chr16:23224162 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.*584G>A single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000294130]|Liddle syndrome 2 [RCV000386031] Chr16:23216053 [GRCh38]
Chr16:23227374 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.*597dup duplication Autosomal recessive pseudohypoaldosteronism type 1 [RCV000351489]|Liddle syndrome 1 [RCV000390316] Chr16:23216065..23216066 [GRCh38]
Chr16:23227386..23227387 [GRCh37]
Chr16:16p12.2		 likely benign
GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3 copy number gain See cases [RCV000449403] Chr16:19424115..30142220 [GRCh37]
Chr16:16p12.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
GRCh37/hg19 16p12.2-11.2(chr16:22718350-28858721)x4 copy number gain See cases [RCV000511587] Chr16:22718350..28858721 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1 copy number loss See cases [RCV000511271] Chr16:21596299..30399167 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_001039.4(SCNN1G):c.1465G>C (p.Gly489Arg) single nucleotide variant Inborn genetic diseases [RCV003244783] Chr16:23213135 [GRCh38]
Chr16:23224456 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3 copy number gain See cases [RCV000512428] Chr16:18238275..30177240 [GRCh37]
Chr16:16p12.3-11.2		 pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21379628-29351826)x3 copy number gain See cases [RCV000512478] Chr16:21379628..29351826 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_001039.4(SCNN1G):c.1699C>T (p.Gln567Ter) single nucleotide variant Liddle syndrome 2 [RCV000680189] Chr16:23215218 [GRCh38]
Chr16:23226539 [GRCh37]
Chr16:16p12.2		 pathogenic
N530S single nucleotide variant Liddle syndrome 2 [RCV000684753] Chr16:16p12.2 pathogenic
NM_001039.4(SCNN1G):c.1749_1753del (p.Glu583fs) deletion Liddle syndrome 2 [RCV000684754] Chr16:23215268..23215272 [GRCh38]
Chr16:23226589..23226593 [GRCh37]
Chr16:16p12.2		 pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21379628-29379768)x1 copy number loss not provided [RCV000683786] Chr16:21379628..29379768 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_001039.4(SCNN1G):c.1119G>A (p.Thr373=) single nucleotide variant not provided [RCV000895670] Chr16:23209791 [GRCh38]
Chr16:23221112 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001039.4(SCNN1G):c.1294+252C>G single nucleotide variant not provided [RCV001690883] Chr16:23212403 [GRCh38]
Chr16:23223724 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.317+280G>A single nucleotide variant not provided [RCV001668061] Chr16:23186868 [GRCh38]
Chr16:23198189 [GRCh37]
Chr16:16p12.2		 benign
GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1 copy number loss Chromosome 16p12.2-p11.2 deletion syndrome [RCV003315282] Chr16:21475039..29043958 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_001039.4(SCNN1G):c.1493+110dup duplication not provided [RCV001566756] Chr16:23213252..23213253 [GRCh38]
Chr16:23224573..23224574 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001039.4(SCNN1G):c.1177-55T>C single nucleotide variant not provided [RCV001609955] Chr16:23211979 [GRCh38]
Chr16:23223300 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.420G>A (p.Ala140=) single nucleotide variant not provided [RCV000928140] Chr16:23189473 [GRCh38]
Chr16:23200794 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001039.4(SCNN1G):c.1570-9G>A single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV002503061]|not provided [RCV000969671]|not specified [RCV001283514] Chr16:23215080 [GRCh38]
Chr16:23226401 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_001039.4(SCNN1G):c.159C>T (p.Arg53=) single nucleotide variant not provided [RCV000905308] Chr16:23186430 [GRCh38]
Chr16:23197751 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001039.4(SCNN1G):c.819G>C (p.Thr273=) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV002503138]|not provided [RCV000983022] Chr16:23194180 [GRCh38]
Chr16:23205501 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001039.4(SCNN1G):c.1476A>G (p.Val492=) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV001121615]|Liddle syndrome 2 [RCV001121616]|not provided [RCV000996237] Chr16:23213146 [GRCh38]
Chr16:23224467 [GRCh37]
Chr16:16p12.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001039.4(SCNN1G):c.1382A>T (p.Glu461Val) single nucleotide variant Inborn genetic diseases [RCV003246582] Chr16:23212845 [GRCh38]
Chr16:23224166 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.1697G>A (p.Trp566Ter) single nucleotide variant not provided [RCV000993039] Chr16:23215216 [GRCh38]
Chr16:23226537 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_001039.4(SCNN1G):c.142dup (p.Arg48fs) duplication Autosomal recessive pseudohypoaldosteronism type 1 [RCV000991457] Chr16:23186410..23186411 [GRCh38]
Chr16:23197731..23197732 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_001039.4(SCNN1G):c.*230C>T single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV001119744]|Liddle syndrome 2 [RCV001119743] Chr16:23215699 [GRCh38]
Chr16:23227020 [GRCh37]
Chr16:16p12.2		 benign|uncertain significance
NM_001039.4(SCNN1G):c.*99C>T single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV001118195]|Liddle syndrome 2 [RCV001118194] Chr16:23215568 [GRCh38]
Chr16:23226889 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.*789T>G single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV001118309]|Liddle syndrome 2 [RCV001119838] Chr16:23216258 [GRCh38]
Chr16:23227579 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.589G>C (p.Glu197Gln) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV001116637]|Liddle syndrome 2 [RCV001116638] Chr16:23189642 [GRCh38]
Chr16:23200963 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.1724G>C (p.Trp575Ser) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV001116746]|Liddle syndrome 2 [RCV001116747] Chr16:23215243 [GRCh38]
Chr16:23226564 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.1841C>T (p.Ala614Val) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV001118191]|Liddle syndrome 2 [RCV001116748] Chr16:23215360 [GRCh38]
Chr16:23226681 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.48C>T (p.Pro16=) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV001116538]|Liddle syndrome 2 [RCV001117991] Chr16:23186319 [GRCh38]
Chr16:23197640 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.2-11.2(chr16:21312200-29646379)x3 copy number gain not provided [RCV001249228] Chr16:21312200..29646379 [GRCh37]
Chr16:16p12.2-11.2		 not provided
NM_001039.4(SCNN1G):c.326C>G (p.Thr109Ser) single nucleotide variant Inborn genetic diseases [RCV003273326] Chr16:23189379 [GRCh38]
Chr16:23200700 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.*909C>T single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV001119839]|Liddle syndrome 2 [RCV001119840] Chr16:23216378 [GRCh38]
Chr16:23227699 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.1741T>C (p.Cys581Arg) single nucleotide variant not provided [RCV003104475] Chr16:23215260 [GRCh38]
Chr16:23226581 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.1177-93G>A single nucleotide variant not provided [RCV001659459] Chr16:23211941 [GRCh38]
Chr16:23223262 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.1493+110_1493+111insTA insertion not provided [RCV001652782] Chr16:23213273..23213274 [GRCh38]
Chr16:23224594..23224595 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.1569+140G>A single nucleotide variant not provided [RCV001560681] Chr16:23214927 [GRCh38]
Chr16:23226248 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001039.4(SCNN1G):c.1078-229C>T single nucleotide variant not provided [RCV001692579] Chr16:23209521 [GRCh38]
Chr16:23220842 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.318-239T>A single nucleotide variant not provided [RCV001639507] Chr16:23189132 [GRCh38]
Chr16:23200453 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.1176+69A>G single nucleotide variant not provided [RCV001714693] Chr16:23209917 [GRCh38]
Chr16:23221238 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.619-226G>A single nucleotide variant not provided [RCV001676633] Chr16:23192126 [GRCh38]
Chr16:23203447 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.*1243C>T single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV001121821]|Liddle syndrome 2 [RCV001121822] Chr16:23216712 [GRCh38]
Chr16:23228033 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.1177-7C>T single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV001007585] Chr16:23212027 [GRCh38]
Chr16:23223348 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.*591G>T single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV001116857]|Liddle syndrome 2 [RCV001116856] Chr16:23216060 [GRCh38]
Chr16:23227381 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.576T>A (p.Asn192Lys) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV000989544] Chr16:23189629 [GRCh38]
Chr16:23200950 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.1455T>C (p.Thr485=) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV002479053]|not provided [RCV000911884] Chr16:23213125 [GRCh38]
Chr16:23224446 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001039.4(SCNN1G):c.1294+100G>A single nucleotide variant not provided [RCV001551535] Chr16:23212251 [GRCh38]
Chr16:23223572 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001039.4(SCNN1G):c.1939G>T (p.Asp647Tyr) single nucleotide variant not provided [RCV001665519] Chr16:23215458 [GRCh38]
Chr16:23226779 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001039.4(SCNN1G):c.1493+214T>C single nucleotide variant not provided [RCV001676446] Chr16:23213377 [GRCh38]
Chr16:23224698 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.1278_1288del (p.Gln427fs) deletion not provided [RCV001008906] Chr16:23212132..23212142 [GRCh38]
Chr16:23223453..23223463 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_001039.4(SCNN1G):c.1373+29T>C single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV001807468]|Bronchiectasis with or without elevated sweat chloride 3 [RCV001807469]|Liddle syndrome 2 [RCV001807470]|not provided [RCV001651378] Chr16:23212785 [GRCh38]
Chr16:23224106 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.913+62G>C single nucleotide variant not provided [RCV001720426] Chr16:23194336 [GRCh38]
Chr16:23205657 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.810-203AG[2] microsatellite not provided [RCV001639399] Chr16:23193968..23193969 [GRCh38]
Chr16:23205289..23205290 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.1493+33T>G single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV001807461]|Bronchiectasis with or without elevated sweat chloride 3 [RCV001807462]|Liddle syndrome 2 [RCV001807463]|not provided [RCV001641445] Chr16:23213196 [GRCh38]
Chr16:23224517 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.940G>A (p.Glu314Lys) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV001118083]|Liddle syndrome 2 [RCV001118082] Chr16:23197290 [GRCh38]
Chr16:23208611 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.1400G>A (p.Ser467Asn) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 3 [RCV001542420] Chr16:23212863 [GRCh38]
Chr16:23224184 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.318-99T>C single nucleotide variant not provided [RCV001670448] Chr16:23189272 [GRCh38]
Chr16:23200593 [GRCh37]
Chr16:16p12.2		 benign
GRCh37/hg19 16p12.2-11.2(chr16:21576802-29351826)x3 copy number gain not provided [RCV001006786] Chr16:21576802..29351826 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_001039.4(SCNN1G):c.619-273dup duplication not provided [RCV001640943] Chr16:23192078..23192079 [GRCh38]
Chr16:23203399..23203400 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.618+106T>C single nucleotide variant not provided [RCV001681047] Chr16:23189777 [GRCh38]
Chr16:23201098 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.317+145C>T single nucleotide variant not provided [RCV001692966] Chr16:23186733 [GRCh38]
Chr16:23198054 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.*491G>A single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV001121718]|Liddle syndrome 2 [RCV001116855] Chr16:23215960 [GRCh38]
Chr16:23227281 [GRCh37]
Chr16:16p12.2		 benign|uncertain significance
NM_001039.4(SCNN1G):c.1861G>A (p.Gly621Ser) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV001118192]|Liddle syndrome 2 [RCV001118193]|not provided [RCV002556514] Chr16:23215380 [GRCh38]
Chr16:23226701 [GRCh37]
Chr16:16p12.2		 benign|uncertain significance
NM_001039.4(SCNN1G):c.*1273C>T single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV001115255]|Liddle syndrome 2 [RCV001121823] Chr16:23216742 [GRCh38]
Chr16:23228063 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.*1287C>T single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV001115257]|Liddle syndrome 2 [RCV001115256] Chr16:23216756 [GRCh38]
Chr16:23228077 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.1563C>T (p.Ala521=) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV001121618]|Liddle syndrome 2 [RCV001121617] Chr16:23214781 [GRCh38]
Chr16:23226102 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.132C>T (p.Ile44=) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV001117993]|Liddle syndrome 2 [RCV001117992]|not provided [RCV003546627] Chr16:23186403 [GRCh38]
Chr16:23197724 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_001039.4(SCNN1G):c.*393T>C single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV001121717]|Liddle syndrome 2 [RCV001121716] Chr16:23215862 [GRCh38]
Chr16:23227183 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_001039.4(SCNN1G):c.1468C>T (p.Arg490Trp) single nucleotide variant not provided [RCV003480170] Chr16:23213138 [GRCh38]
Chr16:23224459 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.564C>A (p.His188Gln) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 3 [RCV001804243] Chr16:23189617 [GRCh38]
Chr16:23200938 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.1176+238G>A single nucleotide variant not provided [RCV001641623] Chr16:23210086 [GRCh38]
Chr16:23221407 [GRCh37]
Chr16:16p12.2		 benign
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic|likely pathogenic
NM_001039.4(SCNN1G):c.1284C>T (p.His428=) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 3 [RCV001337104] Chr16:23212141 [GRCh38]
Chr16:23223462 [GRCh37]
Chr16:16p12.2		 uncertain significance
NC_000016.9:g.21530207_29332245del deletion not provided [RCV001030428] Chr16:21530207..29332245 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_001039.4(SCNN1G):c.1654G>A (p.Val552Ile) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 3 [RCV001376135]|Inborn genetic diseases [RCV003264028] Chr16:23215173 [GRCh38]
Chr16:23226494 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.1318C>T (p.Arg440Ter) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV001449732] Chr16:23212701 [GRCh38]
Chr16:23224022 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_001039.4(SCNN1G):c.1494-49A>G single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV001807488]|Bronchiectasis with or without elevated sweat chloride 3 [RCV001807489]|Liddle syndrome 2 [RCV001807490]|not provided [RCV001666352] Chr16:23214663 [GRCh38]
Chr16:23225984 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.1532T>A (p.Leu511Gln) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV002476850]|Bronchiectasis with or without elevated sweat chloride 3 [RCV001543672]|not provided [RCV003542345] Chr16:23214750 [GRCh38]
Chr16:23226071 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.1078-232G>C single nucleotide variant not provided [RCV001688329] Chr16:23209518 [GRCh38]
Chr16:23220839 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.913+50T>C single nucleotide variant not provided [RCV001669992] Chr16:23194324 [GRCh38]
Chr16:23205645 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.1176+210T>C single nucleotide variant not provided [RCV001696022] Chr16:23210058 [GRCh38]
Chr16:23221379 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.1177-197G>A single nucleotide variant not provided [RCV001671637] Chr16:23211837 [GRCh38]
Chr16:23223158 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.-44-247C>T single nucleotide variant not provided [RCV001698683] Chr16:23185981 [GRCh38]
Chr16:23197302 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.317+264C>T single nucleotide variant not provided [RCV001708600] Chr16:23186852 [GRCh38]
Chr16:23198173 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.1177-122G>T single nucleotide variant not provided [RCV001536318] Chr16:23211912 [GRCh38]
Chr16:23223233 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.470G>A (p.Arg157Gln) single nucleotide variant Autosomal recessive pseudohypoaldosteronism type 1 [RCV002489800]|not provided [RCV001763903] Chr16:23189523 [GRCh38]
Chr16:23200844 [GRCh37]
Chr16:16p12.2		 uncertain significance
NC_000016.10:g.23217001C>T single nucleotide variant not provided [RCV001786299] Chr16:23217001 [GRCh38]
Chr16:23228322 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001039.4(SCNN1G):c.412C>T (p.Arg138Ter) single nucleotide variant not provided [RCV001784950] Chr16:23189465 [GRCh38]
Chr16:23200786 [GRCh37]
Chr16:16p12.2		 pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21594997-29625302)x1 copy number loss not provided [RCV001795549] Chr16:21594997..29625302 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_001039.4(SCNN1G):c.1874C>G (p.Pro625Arg) single nucleotide variant not provided [RCV001758321] Chr16:23215393 [GRCh38]
Chr16:23226714 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.619-78G>T single nucleotide variant not provided [RCV002225974] Chr16:23192274 [GRCh38]
Chr16:23203595 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001039.4(SCNN1G):c.318-17C>T single nucleotide variant not provided [RCV002148922] Chr16:23189354 [GRCh38]
Chr16:23200675 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001039.4(SCNN1G):c.*885G>A single nucleotide variant not provided [RCV002223376] Chr16:23216354 [GRCh38]
Chr16:23227675 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.1016T>G (p.Phe339Cys) single nucleotide variant not specified [RCV002248184] Chr16:23197366 [GRCh38]
Chr16:23208687 [GRCh37]
Chr16:16p12.2		 uncertain significance
NC_000016.9:g.(?_23193865)_(23652612_?)del deletion COG7 congenital disorder of glycosylation [RCV003113761] Chr16:23193865..23652612 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.1720G>C (p.Ala574Pro) single nucleotide variant not provided [RCV003152073] Chr16:23215239 [GRCh38]
Chr16:23226560 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.-44-233_-44-231del deletion not provided [RCV002272121] Chr16:23185995..23185997 [GRCh38]
Chr16:23197316..23197318 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001039.4(SCNN1G):c.-44-244_-44-236del deletion not provided [RCV002272120] Chr16:23185984..23185992 [GRCh38]
Chr16:23197305..23197313 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001039.4(SCNN1G):c.637G>A (p.Asp213Asn) single nucleotide variant Liddle syndrome 2 [RCV003150913]|not provided [RCV003548990] Chr16:23192370 [GRCh38]
Chr16:23203691 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.201C>G (p.Ile67Met) single nucleotide variant Bronchiectasis with or without elevated sweat chloride 3 [RCV003150902] Chr16:23186472 [GRCh38]
Chr16:23197793 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.1555A>G (p.Ser519Gly) single nucleotide variant Inborn genetic diseases [RCV003012924] Chr16:23214773 [GRCh38]
Chr16:23226094 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 copy number gain not provided [RCV002472599] Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3 copy number gain not provided [RCV002474541] Chr16:21576803..30177240 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_001039.4(SCNN1G):c.1691G>A (p.Arg564His) single nucleotide variant Myoepithelial tumor [RCV002463966] Chr16:23215210 [GRCh38]
Chr16:23226531 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.317+18G>C single nucleotide variant not provided [RCV002771261] Chr16:23186606 [GRCh38]
Chr16:23197927 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001039.4(SCNN1G):c.1811C>T (p.Thr604Ile) single nucleotide variant Inborn genetic diseases [RCV002772959] Chr16:23215330 [GRCh38]
Chr16:23226651 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.835A>T (p.Met279Leu) single nucleotide variant Inborn genetic diseases [RCV003250646]|not provided [RCV002975093] Chr16:23194196 [GRCh38]
Chr16:23205517 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.1779_1781dup (p.Pro594_Ala595insPro) duplication not provided [RCV002967767] Chr16:23215297..23215298 [GRCh38]
Chr16:23226618..23226619 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.401C>T (p.Ser134Phe) single nucleotide variant not provided [RCV003001855] Chr16:23189454 [GRCh38]
Chr16:23200775 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity
NM_001039.4(SCNN1G):c.546C>T (p.Val182=) single nucleotide variant not provided [RCV002621117] Chr16:23189599 [GRCh38]
Chr16:23200920 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001039.4(SCNN1G):c.436G>A (p.Val146Ile) single nucleotide variant not provided [RCV002976008] Chr16:23189489 [GRCh38]
Chr16:23200810 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.332G>C (p.Arg111Pro) single nucleotide variant Inborn genetic diseases [RCV002760059] Chr16:23189385 [GRCh38]
Chr16:23200706 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.1018G>T (p.Val340Phe) single nucleotide variant not provided [RCV002659422] Chr16:23197368 [GRCh38]
Chr16:23208689 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.1427C>G (p.Ser476Trp) single nucleotide variant not provided [RCV002893852] Chr16:23212890 [GRCh38]
Chr16:23224211 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.1688G>A (p.Arg563His) single nucleotide variant Inborn genetic diseases [RCV002789759] Chr16:23215207 [GRCh38]
Chr16:23226528 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.1027G>A (p.Val343Met) single nucleotide variant Inborn genetic diseases [RCV002747760] Chr16:23197377 [GRCh38]
Chr16:23208698 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.1431+14C>T single nucleotide variant not provided [RCV002714875] Chr16:23212908 [GRCh38]
Chr16:23224229 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001039.4(SCNN1G):c.1868C>T (p.Pro623Leu) single nucleotide variant not provided [RCV002600011] Chr16:23215387 [GRCh38]
Chr16:23226708 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.1373+4T>C single nucleotide variant not provided [RCV002720726] Chr16:23212760 [GRCh38]
Chr16:23224081 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.603G>T (p.Val201=) single nucleotide variant not provided [RCV002635205] Chr16:23189656 [GRCh38]
Chr16:23200977 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001039.4(SCNN1G):c.619-20G>A single nucleotide variant not provided [RCV002726079] Chr16:23192332 [GRCh38]
Chr16:23203653 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001039.4(SCNN1G):c.1122G>A (p.Glu374=) single nucleotide variant not provided [RCV003072218] Chr16:23209794 [GRCh38]
Chr16:23221115 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001039.4(SCNN1G):c.1493+12C>G single nucleotide variant not provided [RCV002654498] Chr16:23213175 [GRCh38]
Chr16:23224496 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001039.4(SCNN1G):c.1576A>T (p.Met526Leu) single nucleotide variant Inborn genetic diseases [RCV003304414] Chr16:23215095 [GRCh38]
Chr16:23226416 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.1082A>T (p.Glu361Val) single nucleotide variant not provided [RCV003136527] Chr16:23209754 [GRCh38]
Chr16:23221075 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.1808C>G (p.Pro603Arg) single nucleotide variant not provided [RCV003136528] Chr16:23215327 [GRCh38]
Chr16:23226648 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.1319G>A (p.Arg440Gln) single nucleotide variant Inborn genetic diseases [RCV003183865] Chr16:23212702 [GRCh38]
Chr16:23224023 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001039.4(SCNN1G):c.1420G>C (p.Val474Leu) single nucleotide variant Inborn genetic diseases [RCV003286671] Chr16:23212883 [GRCh38]
Chr16:23224204 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.1131T>G (p.Ser377Arg) single nucleotide variant Inborn genetic diseases [RCV003364685] Chr16:23209803 [GRCh38]
Chr16:23221124 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.913+1G>T single nucleotide variant not provided [RCV003571167] Chr16:23194275 [GRCh38]
Chr16:23205596 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_001039.4(SCNN1G):c.1322C>A (p.Ala441Asp) single nucleotide variant not provided [RCV003417680] Chr16:23212705 [GRCh38]
Chr16:23224026 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.1295-13C>T single nucleotide variant not specified [RCV003388532] Chr16:23212665 [GRCh38]
Chr16:23223986 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001039.4(SCNN1G):c.1072C>T (p.His358Tyr) single nucleotide variant SCNN1G-related condition [RCV003414522] Chr16:23197422 [GRCh38]
Chr16:23208743 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.1431+1G>T single nucleotide variant SCNN1G-related condition [RCV003416929] Chr16:23212895 [GRCh38]
Chr16:23224216 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_001039.4(SCNN1G):c.1874C>T (p.Pro625Leu) single nucleotide variant SCNN1G-related condition [RCV003400171] Chr16:23215393 [GRCh38]
Chr16:23226714 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.132C>G (p.Ile44Met) single nucleotide variant not provided [RCV003715392] Chr16:23186403 [GRCh38]
Chr16:23197724 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.410G>A (p.Arg137His) single nucleotide variant not provided [RCV003573504] Chr16:23189463 [GRCh38]
Chr16:23200784 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.1944G>C (p.Glu648Asp) single nucleotide variant not provided [RCV003578961] Chr16:23215463 [GRCh38]
Chr16:23226784 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.1869G>A (p.Pro623=) single nucleotide variant not provided [RCV003880031] Chr16:23215388 [GRCh38]
Chr16:23226709 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001039.4(SCNN1G):c.1923A>G (p.Thr641=) single nucleotide variant not provided [RCV003665275] Chr16:23215442 [GRCh38]
Chr16:23226763 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001039.4(SCNN1G):c.994C>T (p.His332Tyr) single nucleotide variant not provided [RCV003699624] Chr16:23197344 [GRCh38]
Chr16:23208665 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.551G>T (p.Gly184Val) single nucleotide variant not provided [RCV003580063] Chr16:23189604 [GRCh38]
Chr16:23200925 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.1635C>T (p.Cys545=) single nucleotide variant not provided [RCV003856610] Chr16:23215154 [GRCh38]
Chr16:23226475 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001039.4(SCNN1G):c.1570-6T>C single nucleotide variant not provided [RCV003814813] Chr16:23215083 [GRCh38]
Chr16:23226404 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001039.4(SCNN1G):c.914-18G>A single nucleotide variant not provided [RCV003813810] Chr16:23197246 [GRCh38]
Chr16:23208567 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001039.4(SCNN1G):c.988A>G (p.Ile330Val) single nucleotide variant not provided [RCV003559107] Chr16:23197338 [GRCh38]
Chr16:23208659 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.1550T>A (p.Met517Lys) single nucleotide variant not provided [RCV003724195] Chr16:23214768 [GRCh38]
Chr16:23226089 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.1798G>A (p.Asp600Asn) single nucleotide variant not provided [RCV003836851] Chr16:23215317 [GRCh38]
Chr16:23226638 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.819G>A (p.Thr273=) single nucleotide variant not provided [RCV003813979] Chr16:23194180 [GRCh38]
Chr16:23205501 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001039.4(SCNN1G):c.1244C>T (p.Pro415Leu) single nucleotide variant not provided [RCV003717495] Chr16:23212101 [GRCh38]
Chr16:23223422 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.896T>C (p.Met299Thr) single nucleotide variant not provided [RCV003837715] Chr16:23194257 [GRCh38]
Chr16:23205578 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.913+2_913+5dup duplication not provided [RCV003835109] Chr16:23194274..23194275 [GRCh38]
Chr16:23205595..23205596 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.1078-17TGC[3] microsatellite not provided [RCV003816581] Chr16:23209732..23209733 [GRCh38]
Chr16:23221053..23221054 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001039.4(SCNN1G):c.1239C>T (p.Ser413=) single nucleotide variant not provided [RCV003835587] Chr16:23212096 [GRCh38]
Chr16:23223417 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001039.4(SCNN1G):c.899G>C (p.Gly300Ala) single nucleotide variant not provided [RCV003728583] Chr16:23194260 [GRCh38]
Chr16:23205581 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.45G>T (p.Leu15=) single nucleotide variant not provided [RCV003846219] Chr16:23186316 [GRCh38]
Chr16:23197637 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001039.4(SCNN1G):c.1493+15C>T single nucleotide variant not provided [RCV003823706] Chr16:23213178 [GRCh38]
Chr16:23224499 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001039.4(SCNN1G):c.1570-19G>A single nucleotide variant not provided [RCV003858582] Chr16:23215070 [GRCh38]
Chr16:23226391 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.1860C>T (p.Pro620=) single nucleotide variant not provided [RCV003722257] Chr16:23215379 [GRCh38]
Chr16:23226700 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001039.4(SCNN1G):c.1891C>T (p.Arg631Cys) single nucleotide variant not provided [RCV003733369] Chr16:23215410 [GRCh38]
Chr16:23226731 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001039.4(SCNN1G):c.954C>T (p.Asn318=) single nucleotide variant not provided [RCV003737602] Chr16:23197304 [GRCh38]
Chr16:23208625 [GRCh37]
Chr16:16p12.2		 benign
NM_001039.4(SCNN1G):c.843G>C (p.Gly281=) single nucleotide variant not provided [RCV003853945] Chr16:23194204 [GRCh38]
Chr16:23205525 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001039.4(SCNN1G):c.594C>T (p.Ser198=) single nucleotide variant not provided [RCV003710026] Chr16:23189647 [GRCh38]
Chr16:23200968 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001039.4(SCNN1G):c.327C>A (p.Thr109=) single nucleotide variant SCNN1G-related condition [RCV003979407] Chr16:23189380 [GRCh38]
Chr16:23200701 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001039.4(SCNN1G):c.945G>A (p.Glu315=) single nucleotide variant SCNN1G-related condition [RCV003949789] Chr16:23197295 [GRCh38]
Chr16:23208616 [GRCh37]
Chr16:16p12.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:577
Count of miRNA genes:444
Interacting mature miRNAs:482
Transcripts:ENST00000300061
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-61004  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371623,226,821 - 23,227,024UniSTSGRCh37
Build 361623,134,322 - 23,134,525RGDNCBI36
Celera1622,004,604 - 22,004,807RGD
Cytogenetic Map16p12UniSTS
HuRef1621,316,010 - 21,316,213UniSTS
GeneMap99-GB4 RH Map16196.7UniSTS
Whitehead-RH Map16112.0UniSTS
NCBI RH Map16229.3UniSTS
SHGC-61048  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371623,226,620 - 23,226,776UniSTSGRCh37
Build 361623,134,121 - 23,134,277RGDNCBI36
Celera1622,004,403 - 22,004,559RGD
Cytogenetic Map16p12UniSTS
HuRef1621,315,809 - 21,315,965UniSTS
GeneMap99-GB4 RH Map16196.7UniSTS
NCBI RH Map16230.5UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 295 2 382 94 2 1 682 23 395 167 307 753 93 9 360
Low 522 130 608 73 236 7 1485 78 667 71 332 710 75 501 613 1 1
Below cutoff 1381 1998 366 159 958 158 1831 1747 2261 91 715 63 5 1 655 1560 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC099482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH010738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC059391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ402524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ515832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L36592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U35630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U48936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U48937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X87160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z92982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000300061   ⟹   ENSP00000300061
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1623,182,745 - 23,216,883 (+)Ensembl
RefSeq Acc Id: NM_001039   ⟹   NP_001030
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381623,182,745 - 23,216,883 (+)NCBI
GRCh371623,194,040 - 23,228,201 (+)NCBI
Build 361623,101,541 - 23,135,701 (+)NCBI Archive
HuRef1621,283,200 - 21,317,389 (+)ENTREZGENE
CHM1_11624,204,072 - 24,239,947 (+)NCBI
T2T-CHM13v2.01623,458,746 - 23,492,881 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001030 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA75460 (Get FASTA)   NCBI Sequence Viewer  
  AAC50217 (Get FASTA)   NCBI Sequence Viewer  
  AAC50737 (Get FASTA)   NCBI Sequence Viewer  
  AAC50744 (Get FASTA)   NCBI Sequence Viewer  
  AAC50745 (Get FASTA)   NCBI Sequence Viewer  
  AAC50746 (Get FASTA)   NCBI Sequence Viewer  
  AAC50747 (Get FASTA)   NCBI Sequence Viewer  
  AAC50748 (Get FASTA)   NCBI Sequence Viewer  
  AAC50749 (Get FASTA)   NCBI Sequence Viewer  
  AAC50750 (Get FASTA)   NCBI Sequence Viewer  
  AAC50751 (Get FASTA)   NCBI Sequence Viewer  
  AAC50752 (Get FASTA)   NCBI Sequence Viewer  
  AAC50753 (Get FASTA)   NCBI Sequence Viewer  
  AAC50754 (Get FASTA)   NCBI Sequence Viewer  
  AAC50755 (Get FASTA)   NCBI Sequence Viewer  
  AAC50756 (Get FASTA)   NCBI Sequence Viewer  
  AAC50757 (Get FASTA)   NCBI Sequence Viewer  
  AAC50758 (Get FASTA)   NCBI Sequence Viewer  
  AAC50759 (Get FASTA)   NCBI Sequence Viewer  
  AAC50760 (Get FASTA)   NCBI Sequence Viewer  
  AAC50761 (Get FASTA)   NCBI Sequence Viewer  
  AAH59391 (Get FASTA)   NCBI Sequence Viewer  
  AAH69652 (Get FASTA)   NCBI Sequence Viewer  
  AAK50910 (Get FASTA)   NCBI Sequence Viewer  
  ABD72220 (Get FASTA)   NCBI Sequence Viewer  
  ACS13725 (Get FASTA)   NCBI Sequence Viewer  
  CAA60633 (Get FASTA)   NCBI Sequence Viewer  
  CAB07506 (Get FASTA)   NCBI Sequence Viewer  
  EAW55837 (Get FASTA)   NCBI Sequence Viewer  
  EAW55838 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000300061
  ENSP00000300061.2
GenBank Protein P51170 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001030   ⟸   NM_001039
- UniProtKB: Q93027 (UniProtKB/Swiss-Prot),   Q93026 (UniProtKB/Swiss-Prot),   Q93025 (UniProtKB/Swiss-Prot),   Q93024 (UniProtKB/Swiss-Prot),   Q93023 (UniProtKB/Swiss-Prot),   Q6PCC2 (UniProtKB/Swiss-Prot),   P78437 (UniProtKB/Swiss-Prot),   Q96TD2 (UniProtKB/Swiss-Prot),   P51170 (UniProtKB/Swiss-Prot),   A5X2V1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000300061   ⟸   ENST00000300061

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P51170-F1-model_v2 AlphaFold P51170 1-649 view protein structure

Promoters
RGD ID:7231595
Promoter ID:EPDNEW_H21543
Type:initiation region
Name:SCNN1G_1
Description:sodium channel epithelial 1 gamma subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381623,182,746 - 23,182,806EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10602 AgrOrtholog
COSMIC SCNN1G COSMIC
Ensembl Genes ENSG00000166828 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000300061 ENTREZGENE
  ENST00000300061.3 UniProtKB/Swiss-Prot
Gene3D-CATH Acid-sensing ion channels like domains UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  YojJ-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000166828 GTEx
HGNC ID HGNC:10602 ENTREZGENE
Human Proteome Map SCNN1G 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:6340 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6340 ENTREZGENE
OMIM 600761 OMIM
PANTHER AMILORIDE-SENSITIVE SODIUM CHANNEL SUBUNIT GAMMA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11690 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ASC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA307 PharmGKB, RGD
PRINTS AMINACHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ASC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A5X2V1 ENTREZGENE, UniProtKB/TrEMBL
  P51170 ENTREZGENE
  P78437 ENTREZGENE
  Q6LA62_HUMAN UniProtKB/TrEMBL
  Q6LCK3_HUMAN UniProtKB/TrEMBL
  Q6LCK4_HUMAN UniProtKB/TrEMBL
  Q6LCK5_HUMAN UniProtKB/TrEMBL
  Q6LCK6_HUMAN UniProtKB/TrEMBL
  Q6PCC2 ENTREZGENE
  Q93023 ENTREZGENE
  Q93024 ENTREZGENE
  Q93025 ENTREZGENE
  Q93026 ENTREZGENE
  Q93027 ENTREZGENE
  Q96TD2 ENTREZGENE
  SCNNG_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary P78437 UniProtKB/Swiss-Prot
  Q6PCC2 UniProtKB/Swiss-Prot
  Q93023 UniProtKB/Swiss-Prot
  Q93024 UniProtKB/Swiss-Prot
  Q93025 UniProtKB/Swiss-Prot
  Q93026 UniProtKB/Swiss-Prot
  Q93027 UniProtKB/Swiss-Prot
  Q96TD2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-12-03 SCNN1G  sodium channel epithelial 1 subunit gamma  SCNN1G  sodium channel epithelial 1 gamma subunit  Symbol and/or name change 5135510 APPROVED
2016-02-10 SCNN1G  sodium channel epithelial 1 gamma subunit  SCNN1G  sodium channel, non voltage gated 1 gamma subunit  Symbol and/or name change 5135510 APPROVED
2015-01-20 SCNN1G  sodium channel, non voltage gated 1 gamma subunit  SCNN1G  sodium channel, non-voltage-gated 1, gamma subunit  Symbol and/or name change 5135510 APPROVED
2012-03-01 SCNN1G  sodium channel, non-voltage-gated 1, gamma subunit  SCNN1G  sodium channel, nonvoltage-gated 1, gamma  Symbol and/or name change 5135510 APPROVED