NNT (nicotinamide nucleotide transhydrogenase) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: NNT (nicotinamide nucleotide transhydrogenase) Homo sapiens
Analyze
Symbol: NNT
Name: nicotinamide nucleotide transhydrogenase
RGD ID: 1351355
HGNC Page HGNC:7863
Description: Enables NADP binding activity. Involved in reactive oxygen species metabolic process. Located in mitochondrion. Implicated in familial glucocorticoid deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: GCCD4; MGC126502; MGC126503; NAD(P) transhydrogenase, mitochondrial; pyridine nucleotide transhydrogenase
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
GRCh38543,602,675 - 43,707,396 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl543,602,692 - 43,707,405 (+)EnsemblGRCh38hg38GRCh38
GRCh37543,602,777 - 43,707,498 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36543,638,548 - 43,741,425 (+)NCBINCBI36Build 36hg18NCBI36
Build 34543,639,063 - 43,741,091NCBI
Celera543,495,188 - 43,598,076 (+)NCBICelera
Cytogenetic Map5p12NCBI
HuRef543,555,411 - 43,658,307 (+)NCBIHuRef
CHM1_1543,604,210 - 43,707,124 (+)NCBICHM1_1
T2T-CHM13v2.0543,849,920 - 43,961,029 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-methylcholine  (EXP)
5-azacytidine  (EXP)
6-chloro-2,3,4,9-tetrahydro-1H-carbazole-1-carboxamide  (EXP)
6-propyl-2-thiouracil  (ISO)
aldehydo-D-glucose  (EXP)
amiodarone  (ISO)
amitrole  (ISO)
antimycin A  (EXP)
aristolochic acid A  (EXP)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP,ISO)
bilirubin IXalpha  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
Brodifacoum  (ISO)
butanal  (EXP)
butane-2,3-dione  (EXP)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
cisplatin  (EXP)
clozapine  (EXP)
cobalt dichloride  (EXP,ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP)
D-glucose  (EXP)
dieldrin  (ISO)
diethylstilbestrol  (ISO)
diuron  (ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
fenamidone  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
gentamycin  (ISO)
glucose  (EXP)
glyphosate  (ISO)
heptachlor  (ISO)
Heptachlor epoxide  (ISO)
hydrogen peroxide  (EXP)
ivermectin  (EXP)
ketamine  (ISO)
malathion  (EXP)
methamphetamine  (ISO)
methapyrilene  (ISO)
methimazole  (ISO)
mirex  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
nimesulide  (ISO)
NMN zwitterion  (EXP)
ochratoxin A  (EXP)
ozone  (EXP,ISO)
paracetamol  (EXP,ISO)
PCB138  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (ISO)
picoxystrobin  (EXP)
pirinixic acid  (ISO)
propiconazole  (ISO)
rotenone  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium dichromate  (ISO)
streptozocin  (ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
tebufenpyrad  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
theophylline  (EXP)
thioacetamide  (ISO)
thiram  (EXP)
triadimefon  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (EXP)
Triptolide  (ISO)
trovafloxacin  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
vincristine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. The secret life of NAD+: an old metabolite controlling new metabolic signaling pathways. Houtkooper RH, etal., Endocr Rev. 2010 Apr;31(2):194-223. doi: 10.1210/er.2009-0026. Epub 2009 Dec 9.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. Vitamin E and vitamin C do not reduce insulin sensitivity but inhibit mitochondrial protein expression in exercising obese rats. Picklo MJ and Thyfault JP, Appl Physiol Nutr Metab. 2015 Apr;40(4):343-52. doi: 10.1139/apnm-2014-0302. Epub 2014 Dec 9.
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8616157   PMID:8951041   PMID:9271681   PMID:9524818   PMID:10673423   PMID:10739929   PMID:11076863   PMID:11181995   PMID:11230166   PMID:11256614   PMID:12223207   PMID:12477932  
PMID:12592411   PMID:12788487   PMID:15489334   PMID:15489336   PMID:16344560   PMID:16381901   PMID:17342744   PMID:17643375   PMID:19946888   PMID:20388492   PMID:20877624   PMID:21873635  
PMID:21988832   PMID:22586326   PMID:22634753   PMID:22939629   PMID:23592659   PMID:24711643   PMID:25921289   PMID:26025024   PMID:26070314   PMID:26186194   PMID:26496610   PMID:26548497  
PMID:26638075   PMID:27129361   PMID:27342126   PMID:27459240   PMID:27499296   PMID:28478381   PMID:28514442   PMID:29117863   PMID:29180619   PMID:29507755   PMID:29509794   PMID:29568061  
PMID:29850793   PMID:30059901   PMID:30575818   PMID:30669930   PMID:30948266   PMID:31091453   PMID:31180492   PMID:31309731   PMID:31474168   PMID:31536960   PMID:31871319   PMID:31957837  
PMID:32196080   PMID:32235678   PMID:32628020   PMID:32687490   PMID:32807901   PMID:32877691   PMID:32908313   PMID:33060197   PMID:33087821   PMID:33478087   PMID:33961781   PMID:34079125  
PMID:34233163   PMID:34545694   PMID:34591612   PMID:34709727   PMID:34800366   PMID:35032548   PMID:35241646   PMID:35271311   PMID:35627102   PMID:35944360   PMID:36168627   PMID:36168628  
PMID:36215168   PMID:36232890   PMID:36478070   PMID:36490346   PMID:37071682   PMID:37223481   PMID:37244254   PMID:37573896   PMID:37616343   PMID:37827155   PMID:38261461  


Genomics

Comparative Map Data
NNT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38543,602,675 - 43,707,396 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl543,602,692 - 43,707,405 (+)EnsemblGRCh38hg38GRCh38
GRCh37543,602,777 - 43,707,498 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36543,638,548 - 43,741,425 (+)NCBINCBI36Build 36hg18NCBI36
Build 34543,639,063 - 43,741,091NCBI
Celera543,495,188 - 43,598,076 (+)NCBICelera
Cytogenetic Map5p12NCBI
HuRef543,555,411 - 43,658,307 (+)NCBIHuRef
CHM1_1543,604,210 - 43,707,124 (+)NCBICHM1_1
T2T-CHM13v2.0543,849,920 - 43,961,029 (+)NCBIT2T-CHM13v2.0
Nnt
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3913119,472,063 - 119,545,793 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl13119,471,984 - 119,545,533 (-)EnsemblGRCm39 Ensembl
GRCm39 Ensembl13119,472,064 - 119,545,488 (-)EnsemblGRCm39 Ensembl
GRCm3813119,335,527 - 119,409,257 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl13119,335,448 - 119,408,997 (-)EnsemblGRCm38mm10GRCm38
GRCm38.p6 Ensembl13119,335,528 - 119,408,952 (-)EnsemblGRCm38mm10GRCm38
MGSCv3713120,124,334 - 120,197,945 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3613120,453,190 - 120,527,884 (-)NCBIMGSCv36mm8
Celera13123,765,363 - 123,860,935 (-)NCBICelera
Cytogenetic Map13D2.3NCBI
cM Map1367.21NCBI
Nnt
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8253,144,157 - 53,237,857 (-)NCBIGRCr8
mRatBN7.2251,411,413 - 51,505,125 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl251,411,413 - 51,504,823 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx258,530,027 - 58,623,484 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0256,588,743 - 56,682,196 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0251,516,043 - 51,616,358 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0252,189,523 - 52,283,095 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl252,189,529 - 52,282,548 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0270,553,338 - 70,644,591 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4251,496,456 - 51,589,901 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera247,067,409 - 47,159,610 (-)NCBICelera
Cytogenetic Map2q15NCBI
Nnt
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544618,685,516 - 18,778,024 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544618,685,511 - 18,778,024 (-)NCBIChiLan1.0ChiLan1.0
NNT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2466,619,709 - 66,724,900 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1564,774,508 - 64,878,384 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0566,662,249 - 66,772,352 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1571,719,257 - 71,823,259 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl571,719,257 - 71,823,242 (-)Ensemblpanpan1.1panPan2
NNT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1466,348,222 - 66,437,889 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl466,349,318 - 66,442,841 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha466,108,885 - 66,203,350 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0466,840,719 - 66,935,030 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl466,840,739 - 66,934,534 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1466,598,942 - 66,693,215 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0466,729,845 - 66,824,004 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0467,265,089 - 67,359,365 (-)NCBIUU_Cfam_GSD_1.0
Nnt
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213209,662,542 - 209,755,562 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648018,598,481 - 18,691,859 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648018,599,037 - 18,692,097 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NNT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1628,157,318 - 28,250,961 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11628,157,192 - 28,248,732 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21629,706,049 - 29,756,286 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NNT
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1442,377,979 - 42,476,247 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl442,384,435 - 42,477,002 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607132,851,165 - 32,963,567 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nnt
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475911,521,778 - 11,628,716 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475911,520,793 - 11,628,003 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NNT
177 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_182977.3(NNT):c.1598C>T (p.Ala533Val) single nucleotide variant Glucocorticoid deficiency 4 [RCV000029193] Chr5:43649300 [GRCh38]
Chr5:43649402 [GRCh37]
Chr5:5p12		 pathogenic
NM_182977.3(NNT):c.600-1del deletion Glucocorticoid deficiency 4 [RCV000029194] Chr5:43619031 [GRCh38]
Chr5:43619133 [GRCh37]
Chr5:5p12		 pathogenic
NM_182977.3(NNT):c.2930T>C (p.Leu977Pro) single nucleotide variant Glucocorticoid deficiency 4 [RCV000029195] Chr5:43700172 [GRCh38]
Chr5:43700274 [GRCh37]
Chr5:5p12		 pathogenic
NM_182977.3(NNT):c.1107_1110del (p.Thr369_His370insTer) deletion Glucocorticoid deficiency 4 [RCV000029196] Chr5:43644617..43644620 [GRCh38]
Chr5:43644719..43644722 [GRCh37]
Chr5:5p12		 pathogenic
NM_182977.3(NNT):c.3027T>G (p.Asn1009Lys) single nucleotide variant Glucocorticoid deficiency 4 [RCV000029197] Chr5:43702652 [GRCh38]
Chr5:43702754 [GRCh37]
Chr5:5p12		 pathogenic
NM_182977.3(NNT):c.3022G>C (p.Ala1008Pro) single nucleotide variant Glucocorticoid deficiency 4 [RCV000029198] Chr5:43702647 [GRCh38]
Chr5:43702749 [GRCh37]
Chr5:5p12		 pathogenic
GRCh38/hg38 5p14.1-q11.1(chr5:26593632-50288555)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|See cases [RCV000051834] Chr5:26593632..50288555 [GRCh38]
Chr5:26593741..49584389 [GRCh37]
Chr5:26629498..49620146 [NCBI36]
Chr5:5p14.1-q11.1		 pathogenic
GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3 copy number gain See cases [RCV000051835] Chr5:35700480..45260029 [GRCh38]
Chr5:35700582..45260131 [GRCh37]
Chr5:35736339..45295888 [NCBI36]
Chr5:5p13.2-12		 pathogenic
GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3 copy number gain See cases [RCV000051836] Chr5:36374107..51103841 [GRCh38]
Chr5:36374209..50399675 [GRCh37]
Chr5:36409966..50435432 [NCBI36]
Chr5:5p13.2-q11.1		 pathogenic
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 copy number gain See cases [RCV000051810] Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12		 pathogenic
GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3 copy number gain See cases [RCV001310288] Chr5:29081195..45294031 [GRCh37]
Chr5:5p13.3-12		 pathogenic
NM_182977.3(NNT):c.1817T>C (p.Val606Ala) single nucleotide variant Glucocorticoid deficiency 4 [RCV001331765]|not provided [RCV002546505] Chr5:43651838 [GRCh38]
Chr5:43651940 [GRCh37]
Chr5:5p12		 uncertain significance
NM_012343.3(NNT):c.(-54+1_-53-1)_(381+1_382-1)del deletion GLUCOCORTICOID DEFICIENCY 4 WITH MINERALOCORTICOID DEFICIENCY [RCV000256228]   pathogenic
NM_182977.3(NNT):c.644T>C (p.Phe215Ser) single nucleotide variant Glucocorticoid deficiency 4 [RCV000256214] Chr5:43619076 [GRCh38]
Chr5:43619178 [GRCh37]
Chr5:5p12		 pathogenic
NM_182977.3(NNT):c.598G>A (p.Gly200Ser) single nucleotide variant GLUCOCORTICOID DEFICIENCY 4 WITH MINERALOCORTICOID DEFICIENCY [RCV000256216]|Glucocorticoid deficiency 4 [RCV001254595] Chr5:43616064 [GRCh38]
Chr5:43616166 [GRCh37]
Chr5:5p12		 pathogenic|likely pathogenic
NM_182977.3(NNT):c.1163A>C (p.Tyr388Ser) single nucleotide variant GLUCOCORTICOID DEFICIENCY 4 WITH MINERALOCORTICOID DEFICIENCY [RCV000256221] Chr5:43644675 [GRCh38]
Chr5:43644777 [GRCh37]
Chr5:5p12		 pathogenic
NM_182977.3(NNT):c.385C>T (p.Arg129Ter) single nucleotide variant Glucocorticoid deficiency 4 [RCV000256222] Chr5:43615851 [GRCh38]
Chr5:43615953 [GRCh37]
Chr5:5p12		 pathogenic
NM_182977.3(NNT):c.211C>T (p.Arg71Ter) single nucleotide variant Glucocorticoid deficiency 4 [RCV000256229] Chr5:43612967 [GRCh38]
Chr5:43613069 [GRCh37]
Chr5:5p12		 pathogenic
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 copy number gain See cases [RCV000135453] Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11		 pathogenic
GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3 copy number gain See cases [RCV000137302] Chr5:35201559..61903141 [GRCh38]
Chr5:35201661..61198968 [GRCh37]
Chr5:35237418..61234725 [NCBI36]
Chr5:5p13.2-q12.1		 pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3		 pathogenic
NM_182977.3(NNT):c.1259dup (p.His421fs) duplication Glucocorticoid deficiency 4 [RCV000202606] Chr5:43644768..43644769 [GRCh38]
Chr5:43644870..43644871 [GRCh37]
Chr5:5p12		 pathogenic
GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3 copy number gain See cases [RCV000239779] Chr5:13461664..46098927 [GRCh37]
Chr5:5p15.2-12		 pathogenic
NM_182977.3(NNT):c.2831T>C (p.Ile944Thr) single nucleotide variant not provided [RCV000520950] Chr5:43677761 [GRCh38]
Chr5:43677863 [GRCh37]
Chr5:5p12		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3 copy number gain See cases [RCV000512120] Chr5:24281195..46389339 [GRCh37]
Chr5:5p14.2-11		 likely pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3 copy number gain not provided [RCV000682542] Chr5:27227243..45685844 [GRCh37]
Chr5:5p14.1-12		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_182977.3(NNT):c.2977A>G (p.Ile993Val) single nucleotide variant not provided [RCV000873924] Chr5:43700219 [GRCh38]
Chr5:43700321 [GRCh37]
Chr5:5p12		 benign
NM_182977.3(NNT):c.2192C>T (p.Thr731Met) single nucleotide variant not provided [RCV000874214] Chr5:43655972 [GRCh38]
Chr5:43656074 [GRCh37]
Chr5:5p12		 benign|likely benign
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
NM_182977.3(NNT):c.98dup (p.Leu33fs) duplication Glucocorticoid deficiency 4 [RCV000985151] Chr5:43609287..43609288 [GRCh38]
Chr5:43609389..43609390 [GRCh37]
Chr5:5p12		 pathogenic|likely pathogenic|benign
NM_182977.3(NNT):c.2317C>T (p.Leu773=) single nucleotide variant NNT-related disorder [RCV003925861]|not provided [RCV000946074] Chr5:43656676 [GRCh38]
Chr5:43656778 [GRCh37]
Chr5:5p12		 benign|likely benign
NM_182977.3(NNT):c.2625C>T (p.Ile875=) single nucleotide variant not provided [RCV000926732] Chr5:43659341 [GRCh38]
Chr5:43659443 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.2876+6C>T single nucleotide variant not provided [RCV000876911] Chr5:43677812 [GRCh38]
Chr5:43677914 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.1863+9C>T single nucleotide variant NNT-related disorder [RCV003967930]|not provided [RCV000876052] Chr5:43651893 [GRCh38]
Chr5:43651995 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.2752A>G (p.Ile918Val) single nucleotide variant NNT-related disorder [RCV003936221]|not provided [RCV000981671] Chr5:43675628 [GRCh38]
Chr5:43675730 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.1821T>C (p.Gly607=) single nucleotide variant not provided [RCV000876439] Chr5:43651842 [GRCh38]
Chr5:43651944 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.2902C>A (p.Arg968=) single nucleotide variant not provided [RCV000875478] Chr5:43700144 [GRCh38]
Chr5:43700246 [GRCh37]
Chr5:5p12		 benign
NM_182977.3(NNT):c.564A>T (p.Gly188=) single nucleotide variant not provided [RCV000945954] Chr5:43616030 [GRCh38]
Chr5:43616132 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.2294-9T>G single nucleotide variant not provided [RCV000876810] Chr5:43656644 [GRCh38]
Chr5:43656746 [GRCh37]
Chr5:5p12		 benign
NM_182977.3(NNT):c.1500G>A (p.Gln500=) single nucleotide variant not provided [RCV000966631] Chr5:43649202 [GRCh38]
Chr5:43649304 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.80G>A (p.Arg27His) single nucleotide variant Glucocorticoid deficiency 4 [RCV001196976]|not provided [RCV000873701] Chr5:43609275 [GRCh38]
Chr5:43609377 [GRCh37]
Chr5:5p12		 benign
GRCh37/hg19 5p13.2-11(chr5:36053583-46389339)x3 copy number gain musculoskeletal system issues [RCV002284293] Chr5:36053583..46389339 [GRCh37]
Chr5:5p13.2-11		 pathogenic
GRCh37/hg19 5p12(chr5:43383397-43687730)x3 copy number gain not provided [RCV000847714] Chr5:43383397..43687730 [GRCh37]
Chr5:5p12		 uncertain significance
GRCh37/hg19 5p13.2-11(chr5:34453883-46389339)x3 copy number gain not provided [RCV000848003] Chr5:34453883..46389339 [GRCh37]
Chr5:5p13.2-11		 pathogenic
NM_182977.3(NNT):c.1098+17T>C single nucleotide variant Glucocorticoid deficiency 4 [RCV001197774]|not provided [RCV002069285] Chr5:43644342 [GRCh38]
Chr5:43644444 [GRCh37]
Chr5:5p12		 benign
NM_182977.3(NNT):c.1575dup (p.Pro526fs) duplication Glucocorticoid deficiency 4 [RCV001196318] Chr5:43649276..43649277 [GRCh38]
Chr5:43649378..43649379 [GRCh37]
Chr5:5p12		 likely pathogenic
NM_182977.3(NNT):c.2876+7G>T single nucleotide variant NNT-related disorder [RCV003920429]|not provided [RCV000873858] Chr5:43677813 [GRCh38]
Chr5:43677915 [GRCh37]
Chr5:5p12		 benign|likely benign
NM_182977.3(NNT):c.2455-9T>C single nucleotide variant not provided [RCV000875885] Chr5:43659162 [GRCh38]
Chr5:43659264 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.2898A>G (p.Ala966=) single nucleotide variant not provided [RCV000873597] Chr5:43700140 [GRCh38]
Chr5:43700242 [GRCh37]
Chr5:5p12		 benign
NM_182977.3(NNT):c.2550C>A (p.Gly850=) single nucleotide variant not provided [RCV000874301] Chr5:43659266 [GRCh38]
Chr5:43659368 [GRCh37]
Chr5:5p12		 likely benign
GRCh37/hg19 5p13.1-q11.1(chr5:38432180-49441945)x3 copy number gain not provided [RCV001005674] Chr5:38432180..49441945 [GRCh37]
Chr5:5p13.1-q11.1		 pathogenic
NM_182977.3(NNT):c.2798A>G (p.Tyr933Cys) single nucleotide variant Inborn genetic diseases [RCV001265955] Chr5:43677728 [GRCh38]
Chr5:43677830 [GRCh37]
Chr5:5p12		 likely pathogenic
GRCh37/hg19 5p13.2-11(chr5:34984696-46405042)x3 copy number gain not provided [RCV001537930] Chr5:34984696..46405042 [GRCh37]
Chr5:5p13.2-11		 pathogenic
NM_182977.3(NNT):c.2778C>A (p.Ser926Arg) single nucleotide variant Glucocorticoid deficiency 4 [RCV001331767]|Inborn genetic diseases [RCV002546507] Chr5:43675654 [GRCh38]
Chr5:43675756 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.1880C>T (p.Ser627Leu) single nucleotide variant Glucocorticoid deficiency 4 [RCV001331766]|not provided [RCV002546506] Chr5:43653034 [GRCh38]
Chr5:43653136 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.1424C>T (p.Thr475Met) single nucleotide variant Glucocorticoid deficiency 4 [RCV001331764]|Inborn genetic diseases [RCV002546504] Chr5:43645490 [GRCh38]
Chr5:43645592 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.2274del (p.Ile758fs) deletion Glucocorticoid deficiency 4 [RCV001449919] Chr5:43656053 [GRCh38]
Chr5:43656155 [GRCh37]
Chr5:5p12		 pathogenic
NM_182977.3(NNT):c.1822G>A (p.Gly608Arg) single nucleotide variant Glucocorticoid deficiency 4 [RCV002250862] Chr5:43651843 [GRCh38]
Chr5:43651945 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.46C>T (p.Leu16=) single nucleotide variant Glucocorticoid deficiency 4 [RCV001780398]|not provided [RCV002070356]|not specified [RCV001529277] Chr5:43609241 [GRCh38]
Chr5:43609343 [GRCh37]
Chr5:5p12		 benign
NM_182977.3(NNT):c.-26T>C single nucleotide variant Glucocorticoid deficiency 4 [RCV001785445] Chr5:43609170 [GRCh38]
Chr5:43609272 [GRCh37]
Chr5:5p12		 benign
NM_182977.3(NNT):c.152-26_152-25insA insertion Glucocorticoid deficiency 4 [RCV001785446] Chr5:43612882..43612883 [GRCh38]
Chr5:43612984..43612985 [GRCh37]
Chr5:5p12		 benign
NM_182977.3(NNT):c.3224C>T (p.Ala1075Val) single nucleotide variant Inborn genetic diseases [RCV002540596]|NNT-related disorder [RCV003948713]|not provided [RCV001774590] Chr5:43704367 [GRCh38]
Chr5:43704469 [GRCh37]
Chr5:5p12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_182977.3(NNT):c.2561A>G (p.Asn854Ser) single nucleotide variant not provided [RCV002043968] Chr5:43659277 [GRCh38]
Chr5:43659379 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.3058C>G (p.Pro1020Ala) single nucleotide variant Inborn genetic diseases [RCV002552878]|not provided [RCV001895568] Chr5:43702683 [GRCh38]
Chr5:43702785 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.2078G>A (p.Arg693His) single nucleotide variant not provided [RCV001872619] Chr5:43655858 [GRCh38]
Chr5:43655960 [GRCh37]
Chr5:5p12		 uncertain significance
GRCh37/hg19 5p12(chr5:43608942-44194011)x3 copy number gain not provided [RCV001827841] Chr5:43608942..44194011 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.687+11C>A single nucleotide variant not provided [RCV001949285] Chr5:43619130 [GRCh38]
Chr5:43619232 [GRCh37]
Chr5:5p12		 likely benign
GRCh37/hg19 5p14.1-11(chr5:26382110-46389339) copy number gain not specified [RCV002053485] Chr5:26382110..46389339 [GRCh37]
Chr5:5p14.1-11		 pathogenic
NM_182977.3(NNT):c.2370C>T (p.Gly790=) single nucleotide variant NNT-related disorder [RCV003892934]|not provided [RCV001917970] Chr5:43656729 [GRCh38]
Chr5:43656831 [GRCh37]
Chr5:5p12		 likely benign|uncertain significance
NM_182977.3(NNT):c.523C>A (p.Leu175Met) single nucleotide variant not provided [RCV002001089] Chr5:43615989 [GRCh38]
Chr5:43616091 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.596C>T (p.Ala199Val) single nucleotide variant not provided [RCV001900887] Chr5:43616062 [GRCh38]
Chr5:43616164 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.1765A>T (p.Thr589Ser) single nucleotide variant NNT-related disorder [RCV003401997]|not provided [RCV001976130] Chr5:43651786 [GRCh38]
Chr5:43651888 [GRCh37]
Chr5:5p12		 uncertain significance
NC_000005.9:g.(?_42688972)_(44388784_?)del deletion not provided [RCV001956361] Chr5:42688972..44388784 [GRCh37]
Chr5:5p12		 pathogenic
NM_182977.3(NNT):c.1982C>T (p.Ala661Val) single nucleotide variant Inborn genetic diseases [RCV002555251]|not provided [RCV001903377] Chr5:43653136 [GRCh38]
Chr5:43653238 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.2133T>G (p.Gly711=) single nucleotide variant not provided [RCV002129889] Chr5:43655913 [GRCh38]
Chr5:43656015 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.1944T>C (p.Asn648=) single nucleotide variant not provided [RCV002071583] Chr5:43653098 [GRCh38]
Chr5:43653200 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.1864-5A>T single nucleotide variant not provided [RCV002087601] Chr5:43653013 [GRCh38]
Chr5:43653115 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.2865C>G (p.Gly955=) single nucleotide variant not provided [RCV002126547] Chr5:43677795 [GRCh38]
Chr5:43677897 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.2142T>C (p.Ala714=) single nucleotide variant not provided [RCV002091461] Chr5:43655922 [GRCh38]
Chr5:43656024 [GRCh37]
Chr5:5p12		 benign
NM_182977.3(NNT):c.1098+15G>A single nucleotide variant not provided [RCV002097252] Chr5:43644340 [GRCh38]
Chr5:43644442 [GRCh37]
Chr5:5p12		 benign
NM_182977.3(NNT):c.1602C>T (p.Ile534=) single nucleotide variant NNT-related disorder [RCV003933635]|not provided [RCV002173977] Chr5:43649304 [GRCh38]
Chr5:43649406 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.144A>G (p.Val48=) single nucleotide variant NNT-related disorder [RCV003933481]|not provided [RCV002134896] Chr5:43609339 [GRCh38]
Chr5:43609441 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.188A>G (p.Lys63Arg) single nucleotide variant not provided [RCV002196487] Chr5:43612944 [GRCh38]
Chr5:43613046 [GRCh37]
Chr5:5p12		 benign
NM_182977.3(NNT):c.2876+13del deletion not provided [RCV002126599] Chr5:43677819 [GRCh38]
Chr5:43677921 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.2634+17A>G single nucleotide variant not provided [RCV002116008] Chr5:43659367 [GRCh38]
Chr5:43659469 [GRCh37]
Chr5:5p12		 benign
NM_182977.3(NNT):c.129G>C (p.Trp43Cys) single nucleotide variant not provided [RCV002192549] Chr5:43609324 [GRCh38]
Chr5:43609426 [GRCh37]
Chr5:5p12		 benign
NM_182977.3(NNT):c.382-7dup duplication not provided [RCV002116143] Chr5:43615835..43615836 [GRCh38]
Chr5:43615937..43615938 [GRCh37]
Chr5:5p12		 benign
NM_182977.3(NNT):c.2059+9T>C single nucleotide variant not provided [RCV002118613] Chr5:43653222 [GRCh38]
Chr5:43653324 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.1600A>G (p.Ile534Val) single nucleotide variant See cases [RCV002252600] Chr5:43649302 [GRCh38]
Chr5:43649404 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.3222C>T (p.Asp1074=) single nucleotide variant not provided [RCV002119074] Chr5:43704365 [GRCh38]
Chr5:43704467 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.1718-13T>G single nucleotide variant not provided [RCV002161175] Chr5:43651726 [GRCh38]
Chr5:43651828 [GRCh37]
Chr5:5p12		 benign
NM_182977.3(NNT):c.2635-6T>C single nucleotide variant Inborn genetic diseases [RCV003093794]|not provided [RCV002178388] Chr5:43675505 [GRCh38]
Chr5:43675607 [GRCh37]
Chr5:5p12		 likely benign|uncertain significance
NM_182977.3(NNT):c.1444+10C>G single nucleotide variant not provided [RCV002219948] Chr5:43645520 [GRCh38]
Chr5:43645622 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.1987C>T (p.Leu663Phe) single nucleotide variant not provided [RCV002135773] Chr5:43653141 [GRCh38]
Chr5:43653243 [GRCh37]
Chr5:5p12		 benign
NM_182977.3(NNT):c.288C>A (p.Gly96=) single nucleotide variant not provided [RCV002154674] Chr5:43613044 [GRCh38]
Chr5:43613146 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.687+7A>G single nucleotide variant not provided [RCV003116091] Chr5:43619126 [GRCh38]
Chr5:43619228 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.1546G>A (p.Val516Ile) single nucleotide variant Inborn genetic diseases [RCV004244647]|NNT-related disorder [RCV003396895]|not provided [RCV003118456] Chr5:43649248 [GRCh38]
Chr5:43649350 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.2744A>G (p.Asp915Gly) single nucleotide variant Inborn genetic diseases [RCV004654194]|not provided [RCV003237119] Chr5:43675620 [GRCh38]
Chr5:43675722 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.1089del (p.Leu362_Tyr363insTer) deletion Glucocorticoid deficiency 4 [RCV002283609] Chr5:43644316 [GRCh38]
Chr5:43644418 [GRCh37]
Chr5:5p12		 pathogenic
NM_182977.3(NNT):c.2635-1G>T single nucleotide variant Glucocorticoid deficiency 4 [RCV002283833] Chr5:43675510 [GRCh38]
Chr5:43675612 [GRCh37]
Chr5:5p12		 pathogenic
NM_182977.3(NNT):c.455T>C (p.Ile152Thr) single nucleotide variant Inborn genetic diseases [RCV003281322] Chr5:43615921 [GRCh38]
Chr5:43616023 [GRCh37]
Chr5:5p12		 uncertain significance
GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3 copy number gain not provided [RCV002474514] Chr5:29348753..46389339 [GRCh37]
Chr5:5p13.3-11		 pathogenic
NM_182977.3(NNT):c.707G>T (p.Gly236Val) single nucleotide variant not provided [RCV002858596] Chr5:43624051 [GRCh38]
Chr5:43624153 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.1322C>T (p.Pro441Leu) single nucleotide variant not provided [RCV002474004] Chr5:43645388 [GRCh38]
Chr5:43645490 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.188A>T (p.Lys63Ile) single nucleotide variant not provided [RCV002481191] Chr5:43612944 [GRCh38]
Chr5:43613046 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.3247T>C (p.Ser1083Pro) single nucleotide variant Inborn genetic diseases [RCV002776778] Chr5:43704390 [GRCh38]
Chr5:43704492 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.816G>C (p.Glu272Asp) single nucleotide variant Inborn genetic diseases [RCV002776980] Chr5:43628239 [GRCh38]
Chr5:43628341 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.776+1G>A single nucleotide variant not provided [RCV002858597] Chr5:43624121 [GRCh38]
Chr5:43624223 [GRCh37]
Chr5:5p12		 likely pathogenic
NM_182977.3(NNT):c.2404A>G (p.Thr802Ala) single nucleotide variant Inborn genetic diseases [RCV002728579] Chr5:43656763 [GRCh38]
Chr5:43656865 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.2770G>A (p.Ala924Thr) single nucleotide variant not provided [RCV002815303] Chr5:43675646 [GRCh38]
Chr5:43675748 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.1760G>A (p.Arg587His) single nucleotide variant Inborn genetic diseases [RCV004067936]|not provided [RCV002756314] Chr5:43651781 [GRCh38]
Chr5:43651883 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.1264G>A (p.Val422Ile) single nucleotide variant Inborn genetic diseases [RCV002974477]|not provided [RCV003565600] Chr5:43644776 [GRCh38]
Chr5:43644878 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.3112-3C>T single nucleotide variant Inborn genetic diseases [RCV002794910]|not provided [RCV002766522] Chr5:43704252 [GRCh38]
Chr5:43704354 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.1099-9T>A single nucleotide variant not provided [RCV002882297] Chr5:43644602 [GRCh38]
Chr5:43644704 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.3221A>T (p.Asp1074Val) single nucleotide variant Inborn genetic diseases [RCV002682758] Chr5:43704364 [GRCh38]
Chr5:43704466 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.2819C>G (p.Ala940Gly) single nucleotide variant not provided [RCV002968127] Chr5:43677749 [GRCh38]
Chr5:43677851 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.2777G>A (p.Ser926Asn) single nucleotide variant Inborn genetic diseases [RCV002683801] Chr5:43675653 [GRCh38]
Chr5:43675755 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.1806C>T (p.Ala602=) single nucleotide variant not provided [RCV002794816] Chr5:43651827 [GRCh38]
Chr5:43651929 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.437A>C (p.Lys146Thr) single nucleotide variant not provided [RCV002993487] Chr5:43615903 [GRCh38]
Chr5:43616005 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.1377A>G (p.Glu459=) single nucleotide variant NNT-related disorder [RCV003963348]|not provided [RCV002794850] Chr5:43645443 [GRCh38]
Chr5:43645545 [GRCh37]
Chr5:5p12		 benign|likely benign
NM_182977.3(NNT):c.3225G>A (p.Ala1075=) single nucleotide variant not provided [RCV002913790] Chr5:43704368 [GRCh38]
Chr5:43704470 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.1989C>T (p.Leu663=) single nucleotide variant NNT-related disorder [RCV003973487]|not provided [RCV002795727] Chr5:43653143 [GRCh38]
Chr5:43653245 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.2729C>T (p.Thr910Met) single nucleotide variant not provided [RCV002796840] Chr5:43675605 [GRCh38]
Chr5:43675707 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.408A>T (p.Thr136=) single nucleotide variant not provided [RCV002740284] Chr5:43615874 [GRCh38]
Chr5:43615976 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.687+9A>T single nucleotide variant not provided [RCV002571134] Chr5:43619128 [GRCh38]
Chr5:43619230 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.2996-3T>C single nucleotide variant not provided [RCV002886376] Chr5:43702618 [GRCh38]
Chr5:43702720 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.13T>C (p.Leu5=) single nucleotide variant not provided [RCV002885900] Chr5:43609208 [GRCh38]
Chr5:43609310 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.2203G>A (p.Ala735Thr) single nucleotide variant Inborn genetic diseases [RCV002845670] Chr5:43655983 [GRCh38]
Chr5:43656085 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.1873C>T (p.Leu625=) single nucleotide variant not provided [RCV002923393] Chr5:43653027 [GRCh38]
Chr5:43653129 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.1345C>G (p.Pro449Ala) single nucleotide variant Inborn genetic diseases [RCV002693147] Chr5:43645411 [GRCh38]
Chr5:43645513 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.1034A>T (p.Asp345Val) single nucleotide variant not provided [RCV002847136] Chr5:43644261 [GRCh38]
Chr5:43644363 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.151+12C>G single nucleotide variant not provided [RCV002909466] Chr5:43609358 [GRCh38]
Chr5:43609460 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.1845T>C (p.Ser615=) single nucleotide variant not provided [RCV002952601] Chr5:43651866 [GRCh38]
Chr5:43651968 [GRCh37]
Chr5:5p12		 benign
NM_182977.3(NNT):c.1290+17A>C single nucleotide variant not provided [RCV002889279] Chr5:43644819 [GRCh38]
Chr5:43644921 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.1717+4T>C single nucleotide variant Inborn genetic diseases [RCV002783664] Chr5:43650591 [GRCh38]
Chr5:43650693 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.1262A>G (p.His421Arg) single nucleotide variant not provided [RCV003035926] Chr5:43644774 [GRCh38]
Chr5:43644876 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.449C>T (p.Thr150Met) single nucleotide variant Inborn genetic diseases [RCV002977266] Chr5:43615915 [GRCh38]
Chr5:43616017 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.1981G>A (p.Ala661Thr) single nucleotide variant not provided [RCV002668015] Chr5:43653135 [GRCh38]
Chr5:43653237 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.250A>G (p.Lys84Glu) single nucleotide variant Inborn genetic diseases [RCV002645090] Chr5:43613006 [GRCh38]
Chr5:43613108 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.2876+5G>A single nucleotide variant Inborn genetic diseases [RCV002830289] Chr5:43677811 [GRCh38]
Chr5:43677913 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.1358A>C (p.Lys453Thr) single nucleotide variant Inborn genetic diseases [RCV003006795] Chr5:43645424 [GRCh38]
Chr5:43645526 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.553A>G (p.Ile185Val) single nucleotide variant Inborn genetic diseases [RCV002985993] Chr5:43616019 [GRCh38]
Chr5:43616121 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.670A>G (p.Lys224Glu) single nucleotide variant Inborn genetic diseases [RCV002802344] Chr5:43619102 [GRCh38]
Chr5:43619204 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.12A>G (p.Leu4=) single nucleotide variant not provided [RCV002928187] Chr5:43609207 [GRCh38]
Chr5:43609309 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.453G>A (p.Leu151=) single nucleotide variant not provided [RCV002890732] Chr5:43615919 [GRCh38]
Chr5:43616021 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.2390T>A (p.Val797Glu) single nucleotide variant Inborn genetic diseases [RCV002872971] Chr5:43656749 [GRCh38]
Chr5:43656851 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.3233C>T (p.Ala1078Val) single nucleotide variant Inborn genetic diseases [RCV004072029]|not provided [RCV002644085] Chr5:43704376 [GRCh38]
Chr5:43704478 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.349A>G (p.Lys117Glu) single nucleotide variant Inborn genetic diseases [RCV002915708] Chr5:43613105 [GRCh38]
Chr5:43613207 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.1383A>C (p.Glu461Asp) single nucleotide variant Inborn genetic diseases [RCV002827314] Chr5:43645449 [GRCh38]
Chr5:43645551 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.165G>A (p.Lys55=) single nucleotide variant not provided [RCV002710642] Chr5:43612921 [GRCh38]
Chr5:43613023 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.57T>C (p.Asn19=) single nucleotide variant NNT-related disorder [RCV003943531]|not provided [RCV002895455] Chr5:43609252 [GRCh38]
Chr5:43609354 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.837G>C (p.Lys279Asn) single nucleotide variant not provided [RCV002631922] Chr5:43628260 [GRCh38]
Chr5:43628362 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.652C>G (p.Gln218Glu) single nucleotide variant Inborn genetic diseases [RCV002717490] Chr5:43619084 [GRCh38]
Chr5:43619186 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.1834G>A (p.Ala612Thr) single nucleotide variant Inborn genetic diseases [RCV002702683] Chr5:43651855 [GRCh38]
Chr5:43651957 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.845G>A (p.Gly282Asp) single nucleotide variant not provided [RCV002598942] Chr5:43628268 [GRCh38]
Chr5:43628370 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.2430A>C (p.Ser810=) single nucleotide variant not provided [RCV002647245] Chr5:43656789 [GRCh38]
Chr5:43656891 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.2250C>T (p.Gly750=) single nucleotide variant not provided [RCV003045615] Chr5:43656030 [GRCh38]
Chr5:43656132 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.3072T>G (p.Ile1024Met) single nucleotide variant Inborn genetic diseases [RCV002895255]|not provided [RCV002895254] Chr5:43702697 [GRCh38]
Chr5:43702799 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.38C>T (p.Ser13Leu) single nucleotide variant Inborn genetic diseases [RCV002748686] Chr5:43609233 [GRCh38]
Chr5:43609335 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.1356_1357del (p.Lys453fs) deletion not provided [RCV003027013] Chr5:43645421..43645422 [GRCh38]
Chr5:43645523..43645524 [GRCh37]
Chr5:5p12		 pathogenic
NM_182977.3(NNT):c.307G>A (p.Asp103Asn) single nucleotide variant Inborn genetic diseases [RCV002855859] Chr5:43613063 [GRCh38]
Chr5:43613165 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.790G>A (p.Glu264Lys) single nucleotide variant Inborn genetic diseases [RCV002702775] Chr5:43628213 [GRCh38]
Chr5:43628315 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.1843A>C (p.Ser615Arg) single nucleotide variant not provided [RCV003063579] Chr5:43651864 [GRCh38]
Chr5:43651966 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.1291-5A>G single nucleotide variant not provided [RCV002647591] Chr5:43645352 [GRCh38]
Chr5:43645454 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.2576C>T (p.Thr859Ile) single nucleotide variant not provided [RCV002606401] Chr5:43659292 [GRCh38]
Chr5:43659394 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.687+8C>T single nucleotide variant not provided [RCV002585883] Chr5:43619127 [GRCh38]
Chr5:43619229 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.687+10A>T single nucleotide variant not provided [RCV002585884] Chr5:43619129 [GRCh38]
Chr5:43619231 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.2496C>G (p.Pro832=) single nucleotide variant not provided [RCV002610007] Chr5:43659212 [GRCh38]
Chr5:43659314 [GRCh37]
Chr5:5p12		 benign
NM_182977.3(NNT):c.285G>T (p.Ala95=) single nucleotide variant not provided [RCV002611649] Chr5:43613041 [GRCh38]
Chr5:43613143 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.391C>T (p.Pro131Ser) single nucleotide variant Inborn genetic diseases [RCV003213078] Chr5:43615857 [GRCh38]
Chr5:43615959 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.1315C>T (p.Pro439Ser) single nucleotide variant Inborn genetic diseases [RCV003193418] Chr5:43645381 [GRCh38]
Chr5:43645483 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.1484A>G (p.Asn495Ser) single nucleotide variant Inborn genetic diseases [RCV003188463] Chr5:43649186 [GRCh38]
Chr5:43649288 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.2860C>G (p.Gln954Glu) single nucleotide variant Inborn genetic diseases [RCV003205632] Chr5:43677790 [GRCh38]
Chr5:43677892 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.1555G>A (p.Val519Met) single nucleotide variant Inborn genetic diseases [RCV003381355] Chr5:43649257 [GRCh38]
Chr5:43649359 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.1630G>A (p.Ala544Thr) single nucleotide variant Inborn genetic diseases [RCV003374567] Chr5:43650500 [GRCh38]
Chr5:43650602 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.149C>T (p.Pro50Leu) single nucleotide variant Inborn genetic diseases [RCV003383509] Chr5:43609344 [GRCh38]
Chr5:43609446 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.566A>G (p.Tyr189Cys) single nucleotide variant not provided [RCV003543836] Chr5:43616032 [GRCh38]
Chr5:43616134 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.1025T>C (p.Val342Ala) single nucleotide variant Glucocorticoid deficiency 4 [RCV004545904] Chr5:43644252 [GRCh38]
Chr5:43644354 [GRCh37]
Chr5:5p12		 pathogenic|benign
GRCh37/hg19 5p12(chr5:43680944-45642977)x3 copy number gain not provided [RCV003484609] Chr5:43680944..45642977 [GRCh37]
Chr5:5p12		 uncertain significance
GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3 copy number gain See cases [RCV003482191] Chr5:29299893..45899898 [GRCh38]
Chr5:5p13.3-12		 likely pathogenic
NM_182977.3(NNT):c.1684C>T (p.Leu562Phe) single nucleotide variant NNT-related disorder [RCV003410498] Chr5:43650554 [GRCh38]
Chr5:43650656 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.2704C>A (p.Pro902Thr) single nucleotide variant not provided [RCV003880447] Chr5:43675580 [GRCh38]
Chr5:43675682 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.1155C>T (p.Ser385=) single nucleotide variant not provided [RCV003830610] Chr5:43644667 [GRCh38]
Chr5:43644769 [GRCh37]
Chr5:5p12		 benign
NM_182977.3(NNT):c.2103A>G (p.Gln701=) single nucleotide variant not provided [RCV003696290] Chr5:43655883 [GRCh38]
Chr5:43655985 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.871G>C (p.Glu291Gln) single nucleotide variant not provided [RCV003714917] Chr5:43628294 [GRCh38]
Chr5:43628396 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.1290+17A>G single nucleotide variant not provided [RCV003695878] Chr5:43644819 [GRCh38]
Chr5:43644921 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.3077G>T (p.Gly1026Val) single nucleotide variant not provided [RCV003577441] Chr5:43702702 [GRCh38]
Chr5:43702804 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.105A>T (p.Thr35=) single nucleotide variant not provided [RCV003714695] Chr5:43609300 [GRCh38]
Chr5:43609402 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.989A>G (p.Asn330Ser) single nucleotide variant NNT-related disorder [RCV003929283]|not provided [RCV003688292] Chr5:43644216 [GRCh38]
Chr5:43644318 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.1389A>G (p.Ala463=) single nucleotide variant not provided [RCV003725648] Chr5:43645455 [GRCh38]
Chr5:43645557 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.39G>A (p.Ser13=) single nucleotide variant not provided [RCV003699812] Chr5:43609234 [GRCh38]
Chr5:43609336 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.523C>T (p.Leu175=) single nucleotide variant not provided [RCV003549437] Chr5:43615989 [GRCh38]
Chr5:43616091 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.2876+12C>T single nucleotide variant not provided [RCV003673501] Chr5:43677818 [GRCh38]
Chr5:43677920 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.2740C>T (p.Leu914Phe) single nucleotide variant not provided [RCV003726129] Chr5:43675616 [GRCh38]
Chr5:43675718 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.573G>A (p.Ala191=) single nucleotide variant not provided [RCV003558881] Chr5:43616039 [GRCh38]
Chr5:43616141 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.2996-6A>G single nucleotide variant not provided [RCV003548616] Chr5:43702615 [GRCh38]
Chr5:43702717 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.2795-15T>C single nucleotide variant not provided [RCV003707700] Chr5:43677710 [GRCh38]
Chr5:43677812 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.2876+7G>A single nucleotide variant not provided [RCV003554495] Chr5:43677813 [GRCh38]
Chr5:43677915 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.3078C>A (p.Gly1026=) single nucleotide variant not provided [RCV003844154] Chr5:43702703 [GRCh38]
Chr5:43702805 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.574C>T (p.Leu192=) single nucleotide variant not provided [RCV003864276] Chr5:43616040 [GRCh38]
Chr5:43616142 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.450G>A (p.Thr150=) single nucleotide variant not provided [RCV003858578] Chr5:43615916 [GRCh38]
Chr5:43616018 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.2847G>A (p.Lys949=) single nucleotide variant not provided [RCV003842192] Chr5:43677777 [GRCh38]
Chr5:43677879 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.480T>C (p.Asn160=) single nucleotide variant not provided [RCV003704679] Chr5:43615946 [GRCh38]
Chr5:43616048 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.270C>T (p.Val90=) single nucleotide variant not provided [RCV003550966] Chr5:43613026 [GRCh38]
Chr5:43613128 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.1607-7T>A single nucleotide variant NNT-related disorder [RCV003919468] Chr5:43650470 [GRCh38]
Chr5:43650572 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.1280T>C (p.Val427Ala) single nucleotide variant NNT-related disorder [RCV003904605] Chr5:43644792 [GRCh38]
Chr5:43644894 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.1812C>A (p.Thr604=) single nucleotide variant NNT-related disorder [RCV003967074] Chr5:43651833 [GRCh38]
Chr5:43651935 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.2775T>C (p.Asn925=) single nucleotide variant NNT-related disorder [RCV003921529] Chr5:43675651 [GRCh38]
Chr5:43675753 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.1607-8C>A single nucleotide variant NNT-related disorder [RCV003919780] Chr5:43650469 [GRCh38]
Chr5:43650571 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.600-32TTAT[4] microsatellite NNT-related disorder [RCV003927174] Chr5:43619000..43619007 [GRCh38]
Chr5:43619102..43619109 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.408A>G (p.Thr136=) single nucleotide variant NNT-related disorder [RCV003968933] Chr5:43615874 [GRCh38]
Chr5:43615976 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.2533G>A (p.Ala845Thr) single nucleotide variant Inborn genetic diseases [RCV004495771] Chr5:43659249 [GRCh38]
Chr5:43659351 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.2345C>T (p.Ala782Val) single nucleotide variant Inborn genetic diseases [RCV004495768] Chr5:43656704 [GRCh38]
Chr5:43656806 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.1258G>T (p.Gly420Cys) single nucleotide variant Inborn genetic diseases [RCV004495766] Chr5:43644770 [GRCh38]
Chr5:43644872 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.96T>G (p.Phe32Leu) single nucleotide variant Inborn genetic diseases [RCV004495773] Chr5:43609291 [GRCh38]
Chr5:43609393 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.578G>A (p.Ser193Asn) single nucleotide variant not provided [RCV004592051] Chr5:43616044 [GRCh38]
Chr5:43616146 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.697G>A (p.Val233Ile) single nucleotide variant Inborn genetic diseases [RCV004495772] Chr5:43624041 [GRCh38]
Chr5:43624143 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.2491A>G (p.Met831Val) single nucleotide variant Inborn genetic diseases [RCV004495769] Chr5:43659207 [GRCh38]
Chr5:43659309 [GRCh37]
Chr5:5p12		 uncertain significance
NC_000005.9:g.(?_42688972)_(45303961_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV004578960] Chr5:42688972..45303961 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.1370A>T (p.Glu457Val) single nucleotide variant Inborn genetic diseases [RCV004643871] Chr5:43645436 [GRCh38]
Chr5:43645538 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.620C>A (p.Ala207Glu) single nucleotide variant Inborn genetic diseases [RCV004647427] Chr5:43619052 [GRCh38]
Chr5:43619154 [GRCh37]
Chr5:5p12		 uncertain significance
NM_182977.3(NNT):c.2005G>A (p.Gly669Ser) single nucleotide variant Inborn genetic diseases [RCV004647428] Chr5:43653159 [GRCh38]
Chr5:43653261 [GRCh37]
Chr5:5p12		 likely benign
NM_182977.3(NNT):c.2467A>G (p.Thr823Ala) single nucleotide variant Inborn genetic diseases [RCV004643872] Chr5:43659183 [GRCh38]
Chr5:43659285 [GRCh37]
Chr5:5p12		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2273
Count of miRNA genes:954
Interacting mature miRNAs:1122
Transcripts:ENST00000264663, ENST00000344920, ENST00000503059, ENST00000503651, ENST00000505678, ENST00000506893, ENST00000512422, ENST00000512996, ENST00000513390, ENST00000515208
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407169686GWAS818662_HFEV/FVC ratio, response to bronchodilator QTL GWAS818662 (human)0.000001FEV/FVC ratio, response to bronchodilatorforced expiratory volume to forced vital capacity ratio (CMO:0000241)54367765143677652Human
407269413GWAS918389_Hbody height QTL GWAS918389 (human)1e-67body height (VT:0001253)body height (CMO:0000106)54366513643665137Human
407170354GWAS819330_HFEV/FVC ratio, response to bronchodilator QTL GWAS819330 (human)0.000002FEV/FVC ratio, response to bronchodilatorforced expiratory volume to forced vital capacity ratio (CMO:0000241)54367286143672862Human
407169420GWAS818396_HFEV/FVC ratio, response to bronchodilator QTL GWAS818396 (human)0.000001FEV/FVC ratio, response to bronchodilatorforced expiratory volume to forced vital capacity ratio (CMO:0000241)54364312343643124Human
407169694GWAS818670_HFEV/FVC ratio, response to bronchodilator QTL GWAS818670 (human)0.000001FEV/FVC ratio, response to bronchodilatorforced expiratory volume to forced vital capacity ratio (CMO:0000241)54364950343649504Human
407019758GWAS668734_Hbody height QTL GWAS668734 (human)7e-17body height (VT:0001253)body height (CMO:0000106)54368056543680566Human
407174490GWAS823466_Hnon-melanoma skin carcinoma QTL GWAS823466 (human)0.0000005non-melanoma skin carcinoma54365597243655973Human
407169691GWAS818667_HFEV/FVC ratio, response to bronchodilator QTL GWAS818667 (human)0.000001FEV/FVC ratio, response to bronchodilatorforced expiratory volume to forced vital capacity ratio (CMO:0000241)54368882143688822Human

Markers in Region
RH25731  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37543,623,012 - 43,623,177UniSTSGRCh37
Build 36543,658,769 - 43,658,934RGDNCBI36
Celera543,515,409 - 43,515,574RGD
Cytogenetic Map5p12UniSTS
HuRef543,575,631 - 43,575,796UniSTS
Bda11g05  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37543,705,402 - 43,705,501UniSTSGRCh37
Build 36543,741,159 - 43,741,258RGDNCBI36
Celera543,597,810 - 43,597,909RGD
Cytogenetic Map5p12UniSTS
HuRef543,658,041 - 43,658,140UniSTS
RH66587  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37543,612,877 - 43,613,013UniSTSGRCh37
Build 36543,648,634 - 43,648,770RGDNCBI36
Celera543,505,274 - 43,505,410RGD
Cytogenetic Map5p12UniSTS
HuRef543,565,498 - 43,565,634UniSTS
RH41165  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37543,654,358 - 43,654,614UniSTSGRCh37
Build 36543,690,115 - 43,690,371RGDNCBI36
Celera543,546,757 - 43,547,013RGD
Cytogenetic Map5p12UniSTS
HuRef543,607,004 - 43,607,260UniSTS
RH68867  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37543,705,117 - 43,705,232UniSTSGRCh37
Build 36543,740,874 - 43,740,989RGDNCBI36
Celera543,597,525 - 43,597,640RGD
Cytogenetic Map5p12UniSTS
HuRef543,657,756 - 43,657,871UniSTS
RH75784  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37543,705,326 - 43,705,571UniSTSGRCh37
Build 36543,741,083 - 43,741,328RGDNCBI36
Celera543,597,734 - 43,597,979RGD
Cytogenetic Map5p12UniSTS
HuRef543,657,965 - 43,658,210UniSTS
RH98326  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37543,704,470 - 43,704,615UniSTSGRCh37
Build 36543,740,227 - 43,740,372RGDNCBI36
Celera543,596,878 - 43,597,023RGD
Cytogenetic Map5p12UniSTS
HuRef543,657,109 - 43,657,254UniSTS
D5S2216E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37543,620,040 - 43,620,149UniSTSGRCh37
Build 36543,655,797 - 43,655,906RGDNCBI36
Celera543,512,437 - 43,512,546RGD
Cytogenetic Map5p12UniSTS
HuRef543,572,660 - 43,572,769UniSTS
SHGC-111715  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37543,690,507 - 43,690,821UniSTSGRCh37
Build 36543,726,264 - 43,726,578RGDNCBI36
Celera543,582,910 - 43,583,224RGD
Cytogenetic Map5p12UniSTS
HuRef543,643,142 - 43,643,456UniSTS
TNG Radiation Hybrid Map521970.0UniSTS
SHGC-105067  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37543,704,811 - 43,705,087UniSTSGRCh37
Build 36543,740,568 - 43,740,844RGDNCBI36
Celera543,597,219 - 43,597,495RGD
Cytogenetic Map5p12UniSTS
HuRef543,657,450 - 43,657,726UniSTS
TNG Radiation Hybrid Map521983.0UniSTS
SHGC-141773  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37543,705,338 - 43,705,631UniSTSGRCh37
Build 36543,741,095 - 43,741,388RGDNCBI36
Celera543,597,746 - 43,598,039RGD
Cytogenetic Map5p12UniSTS
HuRef543,657,977 - 43,658,270UniSTS
TNG Radiation Hybrid Map521957.0UniSTS
SHGC-100695  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37543,675,384 - 43,675,486UniSTSGRCh37
Build 36543,711,141 - 43,711,243RGDNCBI36
Celera543,567,789 - 43,567,891RGD
Cytogenetic Map5p12UniSTS
HuRef543,628,021 - 43,628,123UniSTS
TNG Radiation Hybrid Map522005.0UniSTS
SHGC-106285  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37543,636,570 - 43,636,852UniSTSGRCh37
Build 36543,672,327 - 43,672,609RGDNCBI36
Celera543,528,967 - 43,529,249RGD
Cytogenetic Map5p12UniSTS
HuRef543,589,193 - 43,589,475UniSTS
TNG Radiation Hybrid Map522087.0UniSTS
D5S523E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37543,653,183 - 43,653,280UniSTSGRCh37
Build 36543,688,940 - 43,689,037RGDNCBI36
Celera543,545,582 - 43,545,679RGD
Cytogenetic Map5p12UniSTS
HuRef543,605,829 - 43,605,926UniSTS
RH18322  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37543,624,041 - 43,624,143UniSTSGRCh37
Build 36543,659,798 - 43,659,900RGDNCBI36
Celera543,516,438 - 43,516,540RGD
Cytogenetic Map5p12UniSTS
HuRef543,576,663 - 43,576,765UniSTS
GeneMap99-GB4 RH Map5158.81UniSTS
WI-10159  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37543,622,990 - 43,623,267UniSTSGRCh37
Build 36543,658,747 - 43,659,024RGDNCBI36
Celera543,515,387 - 43,515,664RGD
Cytogenetic Map5p12UniSTS
HuRef543,575,609 - 43,575,886UniSTS
RH12654  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37543,622,990 - 43,623,119UniSTSGRCh37
Build 36543,658,747 - 43,658,876RGDNCBI36
Celera543,515,387 - 43,515,516RGD
Cytogenetic Map5p12UniSTS
HuRef543,575,609 - 43,575,738UniSTS
GeneMap99-GB4 RH Map5158.81UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001331026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_182977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006714461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC010435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL831822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW771969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU429380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA521839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U40490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z50101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000264663   ⟹   ENSP00000264663
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl543,602,723 - 43,707,405 (+)Ensembl
Ensembl Acc Id: ENST00000344920   ⟹   ENSP00000343873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl543,603,180 - 43,707,396 (+)Ensembl
Ensembl Acc Id: ENST00000503059   ⟹   ENSP00000424782
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl543,677,779 - 43,704,744 (+)Ensembl
Ensembl Acc Id: ENST00000503651
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl543,623,497 - 43,648,451 (+)Ensembl
Ensembl Acc Id: ENST00000505678   ⟹   ENSP00000427670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl543,602,692 - 43,616,063 (+)Ensembl
Ensembl Acc Id: ENST00000506893
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl543,644,745 - 43,645,665 (+)Ensembl
Ensembl Acc Id: ENST00000512422   ⟹   ENSP00000421886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl543,602,705 - 43,619,084 (+)Ensembl
Ensembl Acc Id: ENST00000512996   ⟹   ENSP00000426343
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl543,603,199 - 43,705,486 (+)Ensembl
Ensembl Acc Id: ENST00000513390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl543,651,784 - 43,653,580 (+)Ensembl
Ensembl Acc Id: ENST00000515208   ⟹   ENSP00000425542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl543,613,091 - 43,616,034 (+)Ensembl
Ensembl Acc Id: ENST00000652986   ⟹   ENSP00000499801
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl543,602,723 - 43,705,479 (+)Ensembl
Ensembl Acc Id: ENST00000653251   ⟹   ENSP00000499281
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl543,602,899 - 43,704,954 (+)Ensembl
Ensembl Acc Id: ENST00000654405   ⟹   ENSP00000499670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl543,603,169 - 43,705,472 (+)Ensembl
Ensembl Acc Id: ENST00000654931   ⟹   ENSP00000499477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl543,603,196 - 43,705,473 (+)Ensembl
Ensembl Acc Id: ENST00000656666   ⟹   ENSP00000499249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl543,604,467 - 43,704,546 (+)Ensembl
Ensembl Acc Id: ENST00000657172   ⟹   ENSP00000499431
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl543,603,196 - 43,654,560 (+)Ensembl
Ensembl Acc Id: ENST00000657973   ⟹   ENSP00000499581
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl543,603,186 - 43,705,473 (+)Ensembl
Ensembl Acc Id: ENST00000658729   ⟹   ENSP00000499331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl543,603,202 - 43,705,481 (+)Ensembl
Ensembl Acc Id: ENST00000660676   ⟹   ENSP00000499491
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl543,603,204 - 43,705,472 (+)Ensembl
Ensembl Acc Id: ENST00000660752   ⟹   ENSP00000499701
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl543,603,163 - 43,648,436 (+)Ensembl
Ensembl Acc Id: ENST00000662525   ⟹   ENSP00000499639
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl543,603,736 - 43,705,484 (+)Ensembl
Ensembl Acc Id: ENST00000669601   ⟹   ENSP00000499527
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl543,603,779 - 43,705,468 (+)Ensembl
Ensembl Acc Id: ENST00000670904   ⟹   ENSP00000499611
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl543,602,883 - 43,705,451 (+)Ensembl
Ensembl Acc Id: ENST00000671668   ⟹   ENSP00000499494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl543,603,266 - 43,704,876 (+)Ensembl
RefSeq Acc Id: NM_001331026   ⟹   NP_001317955
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38543,603,180 - 43,707,396 (+)NCBI
T2T-CHM13v2.0543,856,812 - 43,961,029 (+)NCBI
Sequence:
RefSeq Acc Id: NM_012343   ⟹   NP_036475
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38543,602,675 - 43,707,396 (+)NCBI
GRCh37543,602,791 - 43,705,668 (+)ENTREZGENE
GRCh37543,602,791 - 43,705,668 (+)NCBI
Build 36543,638,548 - 43,741,425 (+)NCBI Archive
HuRef543,555,411 - 43,658,307 (+)ENTREZGENE
CHM1_1543,604,210 - 43,707,124 (+)NCBI
T2T-CHM13v2.0543,856,307 - 43,961,029 (+)NCBI
Sequence:
RefSeq Acc Id: NM_182977   ⟹   NP_892022
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38543,603,180 - 43,707,396 (+)NCBI
GRCh37543,602,791 - 43,705,668 (+)ENTREZGENE
GRCh37543,602,791 - 43,705,668 (+)NCBI
Build 36543,638,986 - 43,741,425 (+)NCBI Archive
HuRef543,555,411 - 43,658,307 (+)ENTREZGENE
CHM1_1543,604,648 - 43,707,124 (+)NCBI
T2T-CHM13v2.0543,856,812 - 43,961,029 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005248274   ⟹   XP_005248331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38543,602,675 - 43,707,396 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005248275   ⟹   XP_005248332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38543,647,985 - 43,707,396 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006714461   ⟹   XP_006714524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38543,613,030 - 43,707,396 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011514001   ⟹   XP_011512303
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38543,603,180 - 43,707,396 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017009293   ⟹   XP_016864782
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38543,602,675 - 43,707,396 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054352250   ⟹   XP_054208225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0543,849,920 - 43,961,029 (+)NCBI
RefSeq Acc Id: XM_054352251   ⟹   XP_054208226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0543,856,569 - 43,961,029 (+)NCBI
RefSeq Acc Id: XM_054352252   ⟹   XP_054208227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0543,849,920 - 43,961,029 (+)NCBI
RefSeq Acc Id: XM_054352253   ⟹   XP_054208228
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0543,866,663 - 43,961,029 (+)NCBI
RefSeq Acc Id: XM_054352254   ⟹   XP_054208229
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0543,901,618 - 43,961,029 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001317955 (Get FASTA)   NCBI Sequence Viewer  
  NP_036475 (Get FASTA)   NCBI Sequence Viewer  
  NP_892022 (Get FASTA)   NCBI Sequence Viewer  
  XP_005248331 (Get FASTA)   NCBI Sequence Viewer  
  XP_005248332 (Get FASTA)   NCBI Sequence Viewer  
  XP_006714524 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512303 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864782 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208225 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208226 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208227 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208228 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208229 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC51914 (Get FASTA)   NCBI Sequence Viewer  
  AAH32370 (Get FASTA)   NCBI Sequence Viewer  
  AAI10544 (Get FASTA)   NCBI Sequence Viewer  
  AAI10545 (Get FASTA)   NCBI Sequence Viewer  
  BAG59951 (Get FASTA)   NCBI Sequence Viewer  
  BAG61550 (Get FASTA)   NCBI Sequence Viewer  
  CAA90428 (Get FASTA)   NCBI Sequence Viewer  
  CAD38536 (Get FASTA)   NCBI Sequence Viewer  
  EAW56073 (Get FASTA)   NCBI Sequence Viewer  
  EAW56074 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000264663
  ENSP00000264663.5
  ENSP00000343873
  ENSP00000343873.4
  ENSP00000421886.1
  ENSP00000424782.1
  ENSP00000425542.1
  ENSP00000426343
  ENSP00000426343.1
  ENSP00000427670.1
  ENSP00000499249
  ENSP00000499249.1
  ENSP00000499281.1
  ENSP00000499331.1
  ENSP00000499431.1
  ENSP00000499477.1
  ENSP00000499491.1
  ENSP00000499494.1
  ENSP00000499527.1
  ENSP00000499581.1
  ENSP00000499611.1
  ENSP00000499639
  ENSP00000499639.1
  ENSP00000499670.1
  ENSP00000499701.1
  ENSP00000499801.1
GenBank Protein Q13423 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_036475   ⟸   NM_012343
- Peptide Label: isoform 1
- UniProtKB: Q2TB60 (UniProtKB/Swiss-Prot),   Q16796 (UniProtKB/Swiss-Prot),   Q8N3V4 (UniProtKB/Swiss-Prot),   Q13423 (UniProtKB/Swiss-Prot),   Q2TB59 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_892022   ⟸   NM_182977
- Peptide Label: isoform 1
- UniProtKB: Q2TB60 (UniProtKB/Swiss-Prot),   Q16796 (UniProtKB/Swiss-Prot),   Q8N3V4 (UniProtKB/Swiss-Prot),   Q13423 (UniProtKB/Swiss-Prot),   Q2TB59 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005248331   ⟸   XM_005248274
- Peptide Label: isoform X1
- UniProtKB: Q2TB60 (UniProtKB/Swiss-Prot),   Q16796 (UniProtKB/Swiss-Prot),   Q8N3V4 (UniProtKB/Swiss-Prot),   Q13423 (UniProtKB/Swiss-Prot),   Q2TB59 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005248332   ⟸   XM_005248275
- Peptide Label: isoform X3
- UniProtKB: B4DMN9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006714524   ⟸   XM_006714461
- Peptide Label: isoform X2
- UniProtKB: E9PCX7 (UniProtKB/TrEMBL),   Q2TB59 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011512303   ⟸   XM_011514001
- Peptide Label: isoform X1
- UniProtKB: Q2TB60 (UniProtKB/Swiss-Prot),   Q16796 (UniProtKB/Swiss-Prot),   Q8N3V4 (UniProtKB/Swiss-Prot),   Q13423 (UniProtKB/Swiss-Prot),   Q2TB59 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016864782   ⟸   XM_017009293
- Peptide Label: isoform X1
- UniProtKB: Q2TB60 (UniProtKB/Swiss-Prot),   Q16796 (UniProtKB/Swiss-Prot),   Q8N3V4 (UniProtKB/Swiss-Prot),   Q13423 (UniProtKB/Swiss-Prot),   Q2TB59 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317955   ⟸   NM_001331026
- Peptide Label: isoform 2
- UniProtKB: E9PCX7 (UniProtKB/TrEMBL),   Q2TB59 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000424782   ⟸   ENST00000503059
Ensembl Acc Id: ENSP00000499701   ⟸   ENST00000660752
Ensembl Acc Id: ENSP00000499491   ⟸   ENST00000660676
Ensembl Acc Id: ENSP00000499639   ⟸   ENST00000662525
Ensembl Acc Id: ENSP00000427670   ⟸   ENST00000505678
Ensembl Acc Id: ENSP00000499801   ⟸   ENST00000652986
Ensembl Acc Id: ENSP00000499281   ⟸   ENST00000653251
Ensembl Acc Id: ENSP00000499670   ⟸   ENST00000654405
Ensembl Acc Id: ENSP00000499477   ⟸   ENST00000654931
Ensembl Acc Id: ENSP00000499527   ⟸   ENST00000669601
Ensembl Acc Id: ENSP00000499249   ⟸   ENST00000656666
Ensembl Acc Id: ENSP00000499581   ⟸   ENST00000657973
Ensembl Acc Id: ENSP00000499431   ⟸   ENST00000657172
Ensembl Acc Id: ENSP00000426343   ⟸   ENST00000512996
Ensembl Acc Id: ENSP00000421886   ⟸   ENST00000512422
Ensembl Acc Id: ENSP00000499331   ⟸   ENST00000658729
Ensembl Acc Id: ENSP00000499611   ⟸   ENST00000670904
Ensembl Acc Id: ENSP00000264663   ⟸   ENST00000264663
Ensembl Acc Id: ENSP00000499494   ⟸   ENST00000671668
Ensembl Acc Id: ENSP00000425542   ⟸   ENST00000515208
Ensembl Acc Id: ENSP00000343873   ⟸   ENST00000344920
RefSeq Acc Id: XP_054208225   ⟸   XM_054352250
- Peptide Label: isoform X1
- UniProtKB: Q8N3V4 (UniProtKB/Swiss-Prot),   Q2TB60 (UniProtKB/Swiss-Prot),   Q16796 (UniProtKB/Swiss-Prot),   Q13423 (UniProtKB/Swiss-Prot),   Q2TB59 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054208227   ⟸   XM_054352252
- Peptide Label: isoform X1
- UniProtKB: Q8N3V4 (UniProtKB/Swiss-Prot),   Q2TB60 (UniProtKB/Swiss-Prot),   Q16796 (UniProtKB/Swiss-Prot),   Q13423 (UniProtKB/Swiss-Prot),   Q2TB59 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054208226   ⟸   XM_054352251
- Peptide Label: isoform X1
- UniProtKB: Q8N3V4 (UniProtKB/Swiss-Prot),   Q2TB60 (UniProtKB/Swiss-Prot),   Q16796 (UniProtKB/Swiss-Prot),   Q13423 (UniProtKB/Swiss-Prot),   Q2TB59 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054208228   ⟸   XM_054352253
- Peptide Label: isoform X2
- UniProtKB: Q2TB59 (UniProtKB/TrEMBL),   E9PCX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054208229   ⟸   XM_054352254
- Peptide Label: isoform X3
- UniProtKB: B4DMN9 (UniProtKB/TrEMBL)
Protein Domains
Alanine dehydrogenase/pyridine nucleotide   NAD(P) transhydrogenase alpha subunit C-terminal   NADP transhydrogenase beta-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13423-F1-model_v2 AlphaFold Q13423 1-1086 view protein structure

Promoters
RGD ID:6869546
Promoter ID:EPDNEW_H7938
Type:initiation region
Name:NNT_2
Description:nicotinamide nucleotide transhydrogenase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7939  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38543,602,693 - 43,602,753EPDNEW
RGD ID:6869548
Promoter ID:EPDNEW_H7939
Type:initiation region
Name:NNT_1
Description:nicotinamide nucleotide transhydrogenase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7938  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38543,603,186 - 43,603,246EPDNEW
RGD ID:6803401
Promoter ID:HG_KWN:50078
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000264663,   OTTHUMT00000214027
Position:
Human AssemblyChrPosition (strand)Source
Build 36543,637,871 - 43,639,147 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7863 AgrOrtholog
COSMIC NNT COSMIC
Ensembl Genes ENSG00000112992 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000264663 ENTREZGENE
  ENST00000264663.9 UniProtKB/Swiss-Prot
  ENST00000344920 ENTREZGENE
  ENST00000344920.9 UniProtKB/Swiss-Prot
  ENST00000503059.1 UniProtKB/TrEMBL
  ENST00000505678.6 UniProtKB/TrEMBL
  ENST00000512422.5 UniProtKB/TrEMBL
  ENST00000512996 ENTREZGENE
  ENST00000512996.6 UniProtKB/TrEMBL
  ENST00000515208.1 UniProtKB/TrEMBL
  ENST00000652986.1 UniProtKB/TrEMBL
  ENST00000653251.1 UniProtKB/Swiss-Prot
  ENST00000654405.1 UniProtKB/TrEMBL
  ENST00000654931.1 UniProtKB/TrEMBL
  ENST00000656666 ENTREZGENE
  ENST00000656666.1 UniProtKB/Swiss-Prot
  ENST00000657172.1 UniProtKB/TrEMBL
  ENST00000657973.1 UniProtKB/TrEMBL
  ENST00000658729.1 UniProtKB/TrEMBL
  ENST00000660676.1 UniProtKB/TrEMBL
  ENST00000660752.1 UniProtKB/TrEMBL
  ENST00000662525 ENTREZGENE
  ENST00000662525.1 UniProtKB/Swiss-Prot
  ENST00000669601.1 UniProtKB/Swiss-Prot
  ENST00000670904.1 UniProtKB/Swiss-Prot
  ENST00000671668.1 UniProtKB/Swiss-Prot
Gene3D-CATH NAD(P)-binding Rossmann-like Domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPP-binding domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000112992 GTEx
HGNC ID HGNC:7863 ENTREZGENE
Human Proteome Map NNT Human Proteome Map
InterPro Ala_DH/PNT_CS2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AlaDH/PNT_CS1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AlaDH/PNT_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AlaDH/PNT_NAD(H)-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DHS-like_NAD/FAD-binding_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NADP_transhyd_a UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NADP_transhyd_a_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PNTB-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23530 UniProtKB/Swiss-Prot
NCBI Gene 23530 ENTREZGENE
OMIM 607878 OMIM
PANTHER NAD(P) TRANSHYDROGENASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P) TRANSHYDROGENASE, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AlaDh_PNT_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AlaDh_PNT_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PNTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PNTB_4TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31667 PharmGKB
PIRSF NADP_transhydrogenase_alpha UniProtKB/TrEMBL
PRINTS F138DOMAIN UniProtKB/TrEMBL
PROSITE ALADH_PNT_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ALADH_PNT_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART AlaDh_PNT_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AlaDh_PNT_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Formate/glycerate dehydrogenase catalytic domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF51735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52467 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A590UJA4_HUMAN UniProtKB/TrEMBL
  A0A590UJI3_HUMAN UniProtKB/TrEMBL
  A0A590UJM2_HUMAN UniProtKB/TrEMBL
  A0A590UJM7_HUMAN UniProtKB/TrEMBL
  A0A590UJV8_HUMAN UniProtKB/TrEMBL
  A0A590UK15_HUMAN UniProtKB/TrEMBL
  A0A590UK29_HUMAN UniProtKB/TrEMBL
  A0A590UKC7_HUMAN UniProtKB/TrEMBL
  B4DMN9 ENTREZGENE, UniProtKB/TrEMBL
  D6RAI5_HUMAN UniProtKB/TrEMBL
  D6RCR6_HUMAN UniProtKB/TrEMBL
  D6RHU2_HUMAN UniProtKB/TrEMBL
  E9PCX7 ENTREZGENE, UniProtKB/TrEMBL
  H0Y9R2_HUMAN UniProtKB/TrEMBL
  NNTM_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q16796 ENTREZGENE
  Q2TB59 ENTREZGENE, UniProtKB/TrEMBL
  Q2TB60 ENTREZGENE
  Q8N3V4 ENTREZGENE
  Q8N5H5_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q16796 UniProtKB/Swiss-Prot
  Q2TB60 UniProtKB/Swiss-Prot
  Q8N3V4 UniProtKB/Swiss-Prot