NEUROG3 (neurogenin 3) - Rat Genome Database

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Gene: NEUROG3 (neurogenin 3) Homo sapiens
Analyze
Symbol: NEUROG3
Name: neurogenin 3
RGD ID: 1344822
HGNC Page HGNC:13806
Description: Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II and positive regulation of transcription by RNA polymerase II. Located in nucleus. Implicated in congenital malabsorptive diarrhea 4; glucose intolerance; and type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: Atoh5; bHLHa7; class A basic helix-loop-helix protein 7; Math4B; neurogenin-3; NGN-3; ngn3; protein atonal homolog 5
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
GRCh381069,571,485 - 69,573,422 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1069,571,698 - 69,573,422 (-)EnsemblGRCh38hg38GRCh38
GRCh371071,331,454 - 71,333,178 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361071,001,797 - 71,003,128 (-)NCBINCBI36Build 36hg18NCBI36
Build 341071,001,796 - 71,003,128NCBI
Celera1064,608,651 - 64,610,070 (-)NCBICelera
Cytogenetic Map10q22.1NCBI
HuRef1065,321,715 - 65,323,132 (-)NCBIHuRef
CHM1_11071,613,524 - 71,614,943 (-)NCBICHM1_1
T2T-CHM13v2.01070,439,446 - 70,441,420 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (ISA)
nucleus  (IBA,IDA,IEA)

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

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Polymorphic variations in the neurogenic differentiation-1, neurogenin-3, and hepatocyte nuclear factor-1alpha genes contribute to glucose intolerance in a South Indian population. Jackson AE, etal., Diabetes. 2004 Aug;53(8):2122-5.
3. NEUROG3 variants and type 2 diabetes in Italians. Milord E and Gragnoli C, Minerva Med. 2006 Oct;97(5):373-8.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG 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. Islet cell differentiation in liver by combinatorial expression of transcription factors neurogenin-3, BETA2, and RIPE3b1. Song YD, etal., Biochem Biophys Res Commun. 2007 Mar 9;354(2):334-9. Epub 2007 Jan 10.
10. Gene Therapy with Neurogenin 3 and Betacellulin Reverses Major Metabolic Problems in Insulin-Deficient Diabetic Mice. Yechoor V, etal., Endocrinology. 2009 Oct 9.
Additional References at PubMed
PMID:9000438   PMID:10677506   PMID:11206403   PMID:11246894   PMID:11270683   PMID:12403815   PMID:12477932   PMID:14576336   PMID:16511571   PMID:16855267   PMID:16873704   PMID:17922104  
PMID:18072012   PMID:18093211   PMID:18210030   PMID:18461161   PMID:18854154   PMID:19274049   PMID:19307926   PMID:19336475   PMID:19538245   PMID:20668890   PMID:20807725   PMID:21099270  
PMID:21378176   PMID:21739268   PMID:21814221   PMID:21873635   PMID:22266316   PMID:22606327   PMID:23349771   PMID:24134759   PMID:24493854   PMID:24925797   PMID:24969979   PMID:25120094  
PMID:25416956   PMID:25650326   PMID:25910212   PMID:26288179   PMID:26345820   PMID:27068459   PMID:27615127   PMID:27836003   PMID:28402852   PMID:28441528   PMID:28457793   PMID:28514442  
PMID:28940958   PMID:29096722   PMID:31178402   PMID:31341016   PMID:31515488   PMID:31638558   PMID:31805014   PMID:32065490   PMID:32296183   PMID:32694731   PMID:32741144   PMID:33878431  
PMID:33961781   PMID:34352411   PMID:34373451   PMID:34550497   PMID:34566896   PMID:36149814   PMID:37117185  


Genomics

Comparative Map Data
NEUROG3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381069,571,485 - 69,573,422 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1069,571,698 - 69,573,422 (-)EnsemblGRCh38hg38GRCh38
GRCh371071,331,454 - 71,333,178 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361071,001,797 - 71,003,128 (-)NCBINCBI36Build 36hg18NCBI36
Build 341071,001,796 - 71,003,128NCBI
Celera1064,608,651 - 64,610,070 (-)NCBICelera
Cytogenetic Map10q22.1NCBI
HuRef1065,321,715 - 65,323,132 (-)NCBIHuRef
CHM1_11071,613,524 - 71,614,943 (-)NCBICHM1_1
T2T-CHM13v2.01070,439,446 - 70,441,420 (-)NCBIT2T-CHM13v2.0
Neurog3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391061,968,869 - 61,970,542 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1061,968,869 - 61,970,542 (+)EnsemblGRCm39 Ensembl
GRCm381062,133,090 - 62,134,763 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1062,133,090 - 62,134,763 (+)EnsemblGRCm38mm10GRCm38
MGSCv371061,595,838 - 61,597,511 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361061,528,447 - 61,530,120 (+)NCBIMGSCv36mm8
Celera1063,235,605 - 63,237,278 (+)NCBICelera
Cytogenetic Map10B4NCBI
cM Map1032.35NCBI
Neurog3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82030,622,533 - 30,624,015 (+)NCBIGRCr8
mRatBN7.22030,079,780 - 30,081,262 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2030,079,780 - 30,081,262 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2031,090,729 - 31,092,211 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02030,481,622 - 30,483,104 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02031,224,416 - 31,225,898 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02031,761,419 - 31,762,893 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2031,761,405 - 31,762,893 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02033,556,854 - 33,558,331 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42029,522,778 - 29,524,261 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12029,536,585 - 29,538,061 (+)NCBI
Celera2031,503,365 - 31,504,847 (+)NCBICelera
Cytogenetic Map20q11NCBI
Neurog3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495543721,577,896 - 21,578,546 (+)NCBIChiLan1.0ChiLan1.0
NEUROG3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2881,720,280 - 81,721,303 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11081,725,601 - 81,726,624 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01066,039,739 - 66,041,804 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11068,571,204 - 68,572,663 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1068,571,614 - 68,572,258 (-)Ensemblpanpan1.1panPan2
NEUROG3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1420,654,824 - 20,657,816 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl420,656,791 - 20,657,438 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha420,784,524 - 20,787,459 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0420,926,422 - 20,929,357 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl420,928,319 - 20,928,966 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1420,825,760 - 20,828,692 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0421,030,322 - 21,033,256 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0421,374,244 - 21,377,179 (-)NCBIUU_Cfam_GSD_1.0
Neurog3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721360,438,787 - 60,440,954 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365218,932,998 - 8,933,645 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365218,932,998 - 8,933,645 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NEUROG3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1472,604,467 - 72,606,360 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11472,604,203 - 72,606,362 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
NEUROG3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1961,743,562 - 61,746,884 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl961,744,332 - 61,744,979 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604822,483,580 - 22,484,779 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Neurog3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247543,817,400 - 3,818,047 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NEUROG3
119 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_020999.4(NEUROG3):c.319C>A (p.Arg107Ser) single nucleotide variant Congenital malabsorptive diarrhea 4 [RCV000005648]|NEUROG3-related disorder [RCV003407280] Chr10:69572725 [GRCh38]
Chr10:71332481 [GRCh37]
Chr10:10q22.1		 pathogenic|likely pathogenic
NM_020999.4(NEUROG3):c.278G>T (p.Arg93Leu) single nucleotide variant Congenital malabsorptive diarrhea 4 [RCV000005649]|not provided [RCV001851676] Chr10:69572766 [GRCh38]
Chr10:71332522 [GRCh37]
Chr10:10q22.1		 pathogenic|likely pathogenic
GRCh38/hg38 10q21.2-22.2(chr10:62229688-74468143)x1 copy number loss See cases [RCV000052530] Chr10:62229688..74468143 [GRCh38]
Chr10:63989447..76227901 [GRCh37]
Chr10:63659453..75897907 [NCBI36]
Chr10:10q21.2-22.2		 pathogenic
GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1 copy number loss See cases [RCV000052511] Chr10:58436466..74415216 [GRCh38]
Chr10:60196226..76174974 [GRCh37]
Chr10:59866232..75844980 [NCBI36]
Chr10:10q21.1-22.2		 pathogenic
NM_020999.4(NEUROG3):c.499G>A (p.Gly167Arg) single nucleotide variant not provided [RCV001513798]|not specified [RCV000117779] Chr10:69572545 [GRCh38]
Chr10:69572545..69572546 [GRCh38]
Chr10:71332301 [GRCh37]
Chr10:71332301..71332302 [GRCh37]
Chr10:10q22.1		 benign
NM_020999.4(NEUROG3):c.596T>C (p.Phe199Ser) single nucleotide variant Congenital malabsorptive diarrhea 4 [RCV001781451]|not provided [RCV001512137]|not specified [RCV000117780] Chr10:69572448 [GRCh38]
Chr10:71332204 [GRCh37]
Chr10:10q22.1		 benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 copy number gain See cases [RCV000134848] Chr10:42685306..73715908 [GRCh38]
Chr10:43180754..75475666 [GRCh37]
Chr10:42500760..75145672 [NCBI36]
Chr10:10q11.21-22.2		 pathogenic
GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 copy number gain See cases [RCV000135438] Chr10:67196567..79422057 [GRCh38]
Chr10:68956325..81181813 [GRCh37]
Chr10:68626331..80851819 [NCBI36]
Chr10:10q21.3-22.3		 pathogenic
GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1 copy number loss See cases [RCV000136658] Chr10:63402579..75296099 [GRCh38]
Chr10:65162339..77055857 [GRCh37]
Chr10:64832345..76725863 [NCBI36]
Chr10:10q21.3-22.2		 pathogenic|likely benign
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 copy number gain See cases [RCV000138007] Chr10:50729367..87147204 [GRCh38]
Chr10:52489127..88906961 [GRCh37]
Chr10:52159133..88896941 [NCBI36]
Chr10:10q11.23-23.2		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_020999.4(NEUROG3):c.162C>A (p.Cys54Ter) single nucleotide variant Congenital malabsorptive diarrhea 4 [RCV000500630]|not provided [RCV002527269] Chr10:69572882 [GRCh38]
Chr10:71332638 [GRCh37]
Chr10:10q22.1		 pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 copy number gain not provided [RCV000683289] Chr10:69040366..93194993 [GRCh37]
Chr10:10q21.3-23.32		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_020999.4(NEUROG3):c.511T>A (p.Ser171Thr) single nucleotide variant not provided [RCV000892702] Chr10:69572533 [GRCh38]
Chr10:71332289 [GRCh37]
Chr10:10q22.1		 benign
NM_020999.4(NEUROG3):c.210G>A (p.Arg70=) single nucleotide variant not provided [RCV000925355] Chr10:69572834 [GRCh38]
Chr10:71332590 [GRCh37]
Chr10:10q22.1		 likely benign
NM_020999.4(NEUROG3):c.223T>C (p.Leu75=) single nucleotide variant not provided [RCV000903134] Chr10:69572821 [GRCh38]
Chr10:71332577 [GRCh37]
Chr10:10q22.1		 benign
NM_020999.4(NEUROG3):c.559T>A (p.Ser187Thr) single nucleotide variant Inborn genetic diseases [RCV003249425] Chr10:69572485 [GRCh38]
Chr10:71332241 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.432C>G (p.His144Gln) single nucleotide variant not provided [RCV003106665] Chr10:69572612 [GRCh38]
Chr10:71332368 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.394A>T (p.Ile132Phe) single nucleotide variant Congenital malabsorptive diarrhea 4 [RCV003446784] Chr10:69572650 [GRCh38]
Chr10:71332406 [GRCh37]
Chr10:10q22.1		 pathogenic|likely pathogenic
NM_020999.4(NEUROG3):c.-1-44_-1-43del deletion not provided [RCV001640811] Chr10:69573087..69573088 [GRCh38]
Chr10:71332843..71332844 [GRCh37]
Chr10:10q22.1		 benign
NM_020999.4(NEUROG3):c.413C>G (p.Thr138Arg) single nucleotide variant Congenital malabsorptive diarrhea 4 [RCV001254820] Chr10:69572631 [GRCh38]
Chr10:71332387 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.540C>T (p.Gly180=) single nucleotide variant not provided [RCV001295075] Chr10:69572504 [GRCh38]
Chr10:71332260 [GRCh37]
Chr10:10q22.1		 likely benign|uncertain significance
NM_020999.4(NEUROG3):c.44G>A (p.Arg15His) single nucleotide variant Inborn genetic diseases [RCV003263929]|not provided [RCV001295544] Chr10:69573000 [GRCh38]
Chr10:71332756 [GRCh37]
Chr10:10q22.1		 likely benign|uncertain significance
NM_020999.4(NEUROG3):c.260A>C (p.Lys87Thr) single nucleotide variant Inborn genetic diseases [RCV004651558]|not provided [RCV001307222] Chr10:69572784 [GRCh38]
Chr10:71332540 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.181C>T (p.Leu61Phe) single nucleotide variant not provided [RCV001300000] Chr10:69572863 [GRCh38]
Chr10:71332619 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.46G>C (p.Glu16Gln) single nucleotide variant Inborn genetic diseases [RCV004036649]|NEUROG3-related disorder [RCV004756219]|not provided [RCV001351340] Chr10:69572998 [GRCh38]
Chr10:71332754 [GRCh37]
Chr10:10q22.1		 likely benign|uncertain significance
NM_020999.4(NEUROG3):c.-142C>G single nucleotide variant not provided [RCV001716964] Chr10:69573350 [GRCh38]
Chr10:71333106 [GRCh37]
Chr10:10q22.1		 benign
NM_020999.4(NEUROG3):c.371C>G (p.Thr124Arg) single nucleotide variant Congenital malabsorptive diarrhea 4 [RCV001789608] Chr10:69572673 [GRCh38]
Chr10:71332429 [GRCh37]
Chr10:10q22.1		 pathogenic
NM_020999.4(NEUROG3):c.284G>C (p.Arg95Pro) single nucleotide variant Congenital malabsorptive diarrhea 4 [RCV001789609] Chr10:69572760 [GRCh38]
Chr10:71332516 [GRCh37]
Chr10:10q22.1		 pathogenic
NM_020999.4(NEUROG3):c.168G>T (p.Gly56=) single nucleotide variant not provided [RCV002042706] Chr10:69572876 [GRCh38]
Chr10:71332632 [GRCh37]
Chr10:10q22.1		 likely benign|uncertain significance
NM_020999.4(NEUROG3):c.366C>G (p.Ile122Met) single nucleotide variant not provided [RCV002008559] Chr10:69572678 [GRCh38]
Chr10:71332434 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.353A>G (p.Lys118Arg) single nucleotide variant not provided [RCV001988335] Chr10:69572691 [GRCh38]
Chr10:71332447 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.535G>T (p.Ala179Ser) single nucleotide variant not provided [RCV001950396] Chr10:69572509 [GRCh38]
Chr10:71332265 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.609G>C (p.Leu203Phe) single nucleotide variant not provided [RCV002009100] Chr10:69572435 [GRCh38]
Chr10:71332191 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.107C>T (p.Pro36Leu) single nucleotide variant not provided [RCV001927383] Chr10:69572937 [GRCh38]
Chr10:71332693 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.502del (p.Asp168fs) deletion not provided [RCV002003901] Chr10:69572542 [GRCh38]
Chr10:71332298 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.406A>G (p.Thr136Ala) single nucleotide variant not provided [RCV002041753] Chr10:69572638 [GRCh38]
Chr10:71332394 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.496C>T (p.Pro166Ser) single nucleotide variant not provided [RCV002005889] Chr10:69572548 [GRCh38]
Chr10:71332304 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.53A>T (p.Glu18Val) single nucleotide variant not provided [RCV002001796] Chr10:69572991 [GRCh38]
Chr10:71332747 [GRCh37]
Chr10:10q22.1		 uncertain significance
GRCh37/hg19 10q22.1(chr10:71300271-71403717) copy number loss not specified [RCV002052876] Chr10:71300271..71403717 [GRCh37]
Chr10:10q22.1		 uncertain significance
GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714) copy number loss not specified [RCV002052875] Chr10:68735254..78885714 [GRCh37]
Chr10:10q21.3-22.3		 pathogenic
NM_020999.4(NEUROG3):c.56G>T (p.Arg19Leu) single nucleotide variant not provided [RCV002007771] Chr10:69572988 [GRCh38]
Chr10:71332744 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.392A>G (p.Tyr131Cys) single nucleotide variant Congenital malabsorptive diarrhea 4 [RCV002484884]|not provided [RCV002007726] Chr10:69572652 [GRCh38]
Chr10:71332408 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.34C>A (p.Gln12Lys) single nucleotide variant not provided [RCV001986478] Chr10:69573010 [GRCh38]
Chr10:71332766 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.498del (p.Asp168fs) deletion not provided [RCV002041797] Chr10:69572546 [GRCh38]
Chr10:71332302 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.101C>A (p.Ser34Tyr) single nucleotide variant Inborn genetic diseases [RCV003355781]|not provided [RCV002029397] Chr10:69572943 [GRCh38]
Chr10:71332699 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.514C>A (p.Leu172Ile) single nucleotide variant not provided [RCV001982381] Chr10:69572530 [GRCh38]
Chr10:71332286 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.367G>C (p.Glu123Gln) single nucleotide variant not provided [RCV001923495] Chr10:69572677 [GRCh38]
Chr10:71332433 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.359C>G (p.Thr120Ser) single nucleotide variant not provided [RCV001884930] Chr10:69572685 [GRCh38]
Chr10:71332441 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.257A>G (p.Lys86Arg) single nucleotide variant not provided [RCV001960965] Chr10:69572787 [GRCh38]
Chr10:71332543 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.251G>T (p.Arg84Leu) single nucleotide variant not provided [RCV001922471] Chr10:69572793 [GRCh38]
Chr10:71332549 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.32T>C (p.Val11Ala) single nucleotide variant not provided [RCV001974445] Chr10:69573012 [GRCh38]
Chr10:71332768 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.605G>T (p.Cys202Phe) single nucleotide variant not provided [RCV001934299] Chr10:69572439 [GRCh38]
Chr10:71332195 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.465C>G (p.His155Gln) single nucleotide variant not provided [RCV001936656] Chr10:69572579 [GRCh38]
Chr10:71332335 [GRCh37]
Chr10:10q22.1		 uncertain significance
NC_000010.10:g.(?_67680088)_(71332799_?)del deletion not provided [RCV001956019] Chr10:67680088..71332799 [GRCh37]
Chr10:10q21.3-22.1		 pathogenic|uncertain significance
NM_020999.4(NEUROG3):c.526G>C (p.Val176Leu) single nucleotide variant not provided [RCV001866810] Chr10:69572518 [GRCh38]
Chr10:71332274 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.212del (p.Pro71fs) deletion not provided [RCV001922061] Chr10:69572832 [GRCh38]
Chr10:71332588 [GRCh37]
Chr10:10q22.1		 uncertain significance
NC_000010.10:g.(?_71332155)_(71332799_?)dup duplication not provided [RCV001958421] Chr10:71332155..71332799 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.629T>C (p.Phe210Ser) single nucleotide variant not provided [RCV002036532] Chr10:69572415 [GRCh38]
Chr10:71332171 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.553G>T (p.Ala185Ser) single nucleotide variant not provided [RCV001981006] Chr10:69572491 [GRCh38]
Chr10:71332247 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.469G>A (p.Gly157Arg) single nucleotide variant not provided [RCV002026446] Chr10:69572575 [GRCh38]
Chr10:71332331 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.356T>G (p.Leu119Arg) single nucleotide variant not provided [RCV001923028] Chr10:69572688 [GRCh38]
Chr10:71332444 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.45T>C (p.Arg15=) single nucleotide variant not provided [RCV002185954] Chr10:69572999 [GRCh38]
Chr10:71332755 [GRCh37]
Chr10:10q22.1		 likely benign
NM_020999.4(NEUROG3):c.622C>T (p.Leu208=) single nucleotide variant not provided [RCV002169771] Chr10:69572422 [GRCh38]
Chr10:71332178 [GRCh37]
Chr10:10q22.1		 likely benign
NM_020999.4(NEUROG3):c.381C>T (p.Phe127=) single nucleotide variant not provided [RCV002085105] Chr10:69572663 [GRCh38]
Chr10:71332419 [GRCh37]
Chr10:10q22.1		 likely benign
NM_020999.4(NEUROG3):c.582G>T (p.Leu194=) single nucleotide variant not provided [RCV002072607] Chr10:69572462 [GRCh38]
Chr10:71332218 [GRCh37]
Chr10:10q22.1		 likely benign
NM_020999.4(NEUROG3):c.552C>T (p.Pro184=) single nucleotide variant not provided [RCV002115791] Chr10:69572492 [GRCh38]
Chr10:71332248 [GRCh37]
Chr10:10q22.1		 benign
NM_020999.4(NEUROG3):c.312C>T (p.Asp104=) single nucleotide variant not provided [RCV002152141] Chr10:69572732 [GRCh38]
Chr10:71332488 [GRCh37]
Chr10:10q22.1		 likely benign
NM_020999.4(NEUROG3):c.624G>C (p.Leu208=) single nucleotide variant not provided [RCV002176117] Chr10:69572420 [GRCh38]
Chr10:71332176 [GRCh37]
Chr10:10q22.1		 likely benign
NM_020999.4(NEUROG3):c.630C>T (p.Phe210=) single nucleotide variant not provided [RCV002099299] Chr10:69572414 [GRCh38]
Chr10:71332170 [GRCh37]
Chr10:10q22.1		 likely benign
NM_020999.4(NEUROG3):c.585G>A (p.Leu195=) single nucleotide variant Congenital malabsorptive diarrhea 4 [RCV002498258]|not provided [RCV002219389] Chr10:69572459 [GRCh38]
Chr10:71332215 [GRCh37]
Chr10:10q22.1		 likely benign
NM_020999.4(NEUROG3):c.369G>A (p.Glu123=) single nucleotide variant not provided [RCV002184235] Chr10:69572675 [GRCh38]
Chr10:71332431 [GRCh37]
Chr10:10q22.1		 likely benign
NM_020999.4(NEUROG3):c.343G>C (p.Asp115His) single nucleotide variant Inborn genetic diseases [RCV003304660] Chr10:69572701 [GRCh38]
Chr10:71332457 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.425C>A (p.Ala142Glu) single nucleotide variant not provided [RCV002303558] Chr10:69572619 [GRCh38]
Chr10:71332375 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.98C>T (p.Thr33Met) single nucleotide variant not provided [RCV002866078] Chr10:69572946 [GRCh38]
Chr10:71332702 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.517T>C (p.Tyr173His) single nucleotide variant not provided [RCV002795013] Chr10:69572527 [GRCh38]
Chr10:71332283 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.102C>T (p.Ser34=) single nucleotide variant not provided [RCV002903217] Chr10:69572942 [GRCh38]
Chr10:71332698 [GRCh37]
Chr10:10q22.1		 likely benign
NM_020999.4(NEUROG3):c.128G>A (p.Arg43Gln) single nucleotide variant not provided [RCV002861419] Chr10:69572916 [GRCh38]
Chr10:71332672 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.191G>T (p.Arg64Leu) single nucleotide variant not provided [RCV002616199] Chr10:69572853 [GRCh38]
Chr10:71332609 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.58T>C (p.Ser20Pro) single nucleotide variant not provided [RCV002861278] Chr10:69572986 [GRCh38]
Chr10:71332742 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.185G>A (p.Arg62Gln) single nucleotide variant Inborn genetic diseases [RCV002905875] Chr10:69572859 [GRCh38]
Chr10:71332615 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.55C>A (p.Arg19=) single nucleotide variant not provided [RCV002953830] Chr10:69572989 [GRCh38]
Chr10:71332745 [GRCh37]
Chr10:10q22.1		 likely benign
NM_020999.4(NEUROG3):c.303G>T (p.Ser101=) single nucleotide variant not provided [RCV002866776] Chr10:69572741 [GRCh38]
Chr10:71332497 [GRCh37]
Chr10:10q22.1		 likely benign
NM_020999.4(NEUROG3):c.430C>T (p.His144Tyr) single nucleotide variant Inborn genetic diseases [RCV002869525] Chr10:69572614 [GRCh38]
Chr10:71332370 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.271C>G (p.Arg91Gly) single nucleotide variant not provided [RCV002736851] Chr10:69572773 [GRCh38]
Chr10:71332529 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.520T>C (p.Ser174Pro) single nucleotide variant not provided [RCV002756780] Chr10:69572524 [GRCh38]
Chr10:71332280 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.446T>C (p.Leu149Pro) single nucleotide variant not provided [RCV002785319] Chr10:69572598 [GRCh38]
Chr10:71332354 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.130G>A (p.Gly44Arg) single nucleotide variant Congenital malabsorptive diarrhea 4 [RCV004720372]|not provided [RCV002909494] Chr10:69572914 [GRCh38]
Chr10:71332670 [GRCh37]
Chr10:10q22.1		 likely benign|uncertain significance
NM_020999.4(NEUROG3):c.122G>A (p.Arg41His) single nucleotide variant not provided [RCV003018362] Chr10:69572922 [GRCh38]
Chr10:71332678 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.557C>T (p.Ala186Val) single nucleotide variant not provided [RCV002643790] Chr10:69572487 [GRCh38]
Chr10:71332243 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.228A>C (p.Ala76=) single nucleotide variant not provided [RCV002645595] Chr10:69572816 [GRCh38]
Chr10:71332572 [GRCh37]
Chr10:10q22.1		 likely benign
NM_020999.4(NEUROG3):c.369G>C (p.Glu123Asp) single nucleotide variant Inborn genetic diseases [RCV002892006] Chr10:69572675 [GRCh38]
Chr10:71332431 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.571C>T (p.Arg191Ter) single nucleotide variant not provided [RCV002643671] Chr10:69572473 [GRCh38]
Chr10:71332229 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.163C>G (p.Arg55Gly) single nucleotide variant Inborn genetic diseases [RCV002770661]|not provided [RCV002805567] Chr10:69572881 [GRCh38]
Chr10:71332637 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.220G>T (p.Glu74Ter) single nucleotide variant not provided [RCV003025219] Chr10:69572824 [GRCh38]
Chr10:71332580 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.572G>A (p.Arg191Gln) single nucleotide variant not provided [RCV002914695] Chr10:69572472 [GRCh38]
Chr10:71332228 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.476T>A (p.Leu159Gln) single nucleotide variant not provided [RCV003025065] Chr10:69572568 [GRCh38]
Chr10:71332324 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.556G>A (p.Ala186Thr) single nucleotide variant not provided [RCV002627546] Chr10:69572488 [GRCh38]
Chr10:71332244 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.539G>A (p.Gly180Asp) single nucleotide variant not provided [RCV002576967] Chr10:69572505 [GRCh38]
Chr10:71332261 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.418C>T (p.Arg140Cys) single nucleotide variant not provided [RCV002646588] Chr10:69572626 [GRCh38]
Chr10:71332382 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.156A>T (p.Gly52=) single nucleotide variant not provided [RCV002577563] Chr10:69572888 [GRCh38]
Chr10:71332644 [GRCh37]
Chr10:10q22.1		 likely benign
NM_020999.4(NEUROG3):c.81C>T (p.Asp27=) single nucleotide variant not provided [RCV002598084] Chr10:69572963 [GRCh38]
Chr10:71332719 [GRCh37]
Chr10:10q22.1		 likely benign
NM_020999.4(NEUROG3):c.117del (p.Thr40fs) deletion not provided [RCV002601691] Chr10:69572927 [GRCh38]
Chr10:71332683 [GRCh37]
Chr10:10q22.1		 likely pathogenic
NM_020999.4(NEUROG3):c.538G>A (p.Gly180Ser) single nucleotide variant not provided [RCV002631142] Chr10:69572506 [GRCh38]
Chr10:71332262 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.571C>A (p.Arg191=) single nucleotide variant not provided [RCV002720612] Chr10:69572473 [GRCh38]
Chr10:71332229 [GRCh37]
Chr10:10q22.1		 likely benign
NM_020999.4(NEUROG3):c.164G>C (p.Arg55Pro) single nucleotide variant not provided [RCV002937812] Chr10:69572880 [GRCh38]
Chr10:71332636 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.315C>T (p.Ala105=) single nucleotide variant not provided [RCV002671537] Chr10:69572729 [GRCh38]
Chr10:71332485 [GRCh37]
Chr10:10q22.1		 likely benign
NM_020999.4(NEUROG3):c.577G>A (p.Gly193Arg) single nucleotide variant Inborn genetic diseases [RCV004066669]|not provided [RCV002653064] Chr10:69572467 [GRCh38]
Chr10:71332223 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.451C>G (p.Pro151Ala) single nucleotide variant not provided [RCV002654042] Chr10:69572593 [GRCh38]
Chr10:71332349 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.44G>T (p.Arg15Leu) single nucleotide variant not provided [RCV002605059] Chr10:69573000 [GRCh38]
Chr10:71332756 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.494C>T (p.Ser165Phe) single nucleotide variant not provided [RCV002603035] Chr10:69572550 [GRCh38]
Chr10:71332306 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.514C>T (p.Leu172Phe) single nucleotide variant not provided [RCV002584747] Chr10:69572530 [GRCh38]
Chr10:71332286 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.191G>C (p.Arg64Pro) single nucleotide variant not provided [RCV002680719] Chr10:69572853 [GRCh38]
Chr10:71332609 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.221A>G (p.Glu74Gly) single nucleotide variant Congenital malabsorptive diarrhea 4 [RCV003133011] Chr10:69572823 [GRCh38]
Chr10:71332579 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.389A>G (p.Asn130Ser) single nucleotide variant Inborn genetic diseases [RCV003204983] Chr10:69572655 [GRCh38]
Chr10:71332411 [GRCh37]
Chr10:10q22.1		 uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
NM_020999.4(NEUROG3):c.594C>A (p.Thr198=) single nucleotide variant not provided [RCV003826669] Chr10:69572450 [GRCh38]
Chr10:71332206 [GRCh37]
Chr10:10q22.1		 likely benign
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2		 pathogenic
NM_020999.4(NEUROG3):c.186G>A (p.Arg62=) single nucleotide variant not provided [RCV003689374] Chr10:69572858 [GRCh38]
Chr10:71332614 [GRCh37]
Chr10:10q22.1		 likely benign
NM_020999.4(NEUROG3):c.17C>G (p.Ser6Trp) single nucleotide variant not provided [RCV003827968] Chr10:69573027 [GRCh38]
Chr10:71332783 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.75G>A (p.Ser25=) single nucleotide variant not provided [RCV003660229] Chr10:69572969 [GRCh38]
Chr10:71332725 [GRCh37]
Chr10:10q22.1		 likely benign
NM_020999.4(NEUROG3):c.54G>A (p.Glu18=) single nucleotide variant not provided [RCV003687600] Chr10:69572990 [GRCh38]
Chr10:71332746 [GRCh37]
Chr10:10q22.1		 likely benign
NM_020999.4(NEUROG3):c.66C>T (p.Pro22=) single nucleotide variant not provided [RCV003661116] Chr10:69572978 [GRCh38]
Chr10:71332734 [GRCh37]
Chr10:10q22.1		 likely benign
NM_020999.4(NEUROG3):c.170C>T (p.Ala57Val) single nucleotide variant not provided [RCV003850398] Chr10:69572874 [GRCh38]
Chr10:71332630 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.192G>A (p.Arg64=) single nucleotide variant not provided [RCV003699502] Chr10:69572852 [GRCh38]
Chr10:71332608 [GRCh37]
Chr10:10q22.1		 likely benign
NM_020999.4(NEUROG3):c.320del (p.Arg107fs) deletion not provided [RCV003665690] Chr10:69572724 [GRCh38]
Chr10:71332480 [GRCh37]
Chr10:10q22.1		 pathogenic
NM_020999.4(NEUROG3):c.9T>C (p.Pro3=) single nucleotide variant not provided [RCV003667598] Chr10:69573035 [GRCh38]
Chr10:71332791 [GRCh37]
Chr10:10q22.1		 likely benign
NM_020999.4(NEUROG3):c.99G>A (p.Thr33=) single nucleotide variant not provided [RCV003550463] Chr10:69572945 [GRCh38]
Chr10:71332701 [GRCh37]
Chr10:10q22.1		 likely benign
NM_020999.4(NEUROG3):c.82G>T (p.Glu28Ter) single nucleotide variant not provided [RCV003557509] Chr10:69572962 [GRCh38]
Chr10:71332718 [GRCh37]
Chr10:10q22.1		 pathogenic
NM_020999.4(NEUROG3):c.581T>G (p.Leu194Arg) single nucleotide variant not provided [RCV003551998] Chr10:69572463 [GRCh38]
Chr10:71332219 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.387C>T (p.His129=) single nucleotide variant not provided [RCV003568626] Chr10:69572657 [GRCh38]
Chr10:71332413 [GRCh37]
Chr10:10q22.1		 likely benign
NM_020999.4(NEUROG3):c.468C>T (p.Cys156=) single nucleotide variant not provided [RCV003871130] Chr10:69572576 [GRCh38]
Chr10:71332332 [GRCh37]
Chr10:10q22.1		 likely benign
NM_020999.4(NEUROG3):c.318G>C (p.Leu106=) single nucleotide variant not provided [RCV003683661] Chr10:69572726 [GRCh38]
Chr10:71332482 [GRCh37]
Chr10:10q22.1		 likely benign
NM_020999.4(NEUROG3):c.466T>G (p.Cys156Gly) single nucleotide variant not provided [RCV003863598] Chr10:69572578 [GRCh38]
Chr10:71332334 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.402G>T (p.Ala134=) single nucleotide variant not provided [RCV003847338] Chr10:69572642 [GRCh38]
Chr10:71332398 [GRCh37]
Chr10:10q22.1		 likely benign
NM_020999.4(NEUROG3):c.63C>T (p.Phe21=) single nucleotide variant not provided [RCV003670703] Chr10:69572981 [GRCh38]
Chr10:71332737 [GRCh37]
Chr10:10q22.1		 likely benign
NM_020999.4(NEUROG3):c.622_623dup (p.Ala209fs) duplication not provided [RCV003845395] Chr10:69572420..69572421 [GRCh38]
Chr10:71332176..71332177 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.254G>T (p.Arg85Leu) single nucleotide variant Inborn genetic diseases [RCV004489370] Chr10:69572790 [GRCh38]
Chr10:71332546 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_020999.4(NEUROG3):c.-1-9C>T single nucleotide variant NEUROG3-related disorder [RCV003913894] Chr10:69573053 [GRCh38]
Chr10:71332809 [GRCh37]
Chr10:10q22.1		 benign
NM_020999.4(NEUROG3):c.213T>G (p.Pro71=) single nucleotide variant NEUROG3-related disorder [RCV003899859] Chr10:69572831 [GRCh38]
Chr10:71332587 [GRCh37]
Chr10:10q22.1		 likely benign
NM_020999.4(NEUROG3):c.110C>G (p.Pro37Arg) single nucleotide variant not provided [RCV004760225]   uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1076
Count of miRNA genes:570
Interacting mature miRNAs:623
Transcripts:ENST00000242462
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
406958672GWAS607648_Hcarotid artery intima media thickness QTL GWAS607648 (human)0.000008carotid artery intima media thickness106957244869572449Human
407287367GWAS936343_Htype 2 diabetes mellitus QTL GWAS936343 (human)2e-11type 2 diabetes mellitus106957254569572546Human
407257041GWAS906017_Htype 2 diabetes mellitus QTL GWAS906017 (human)5e-11type 2 diabetes mellitus106957254569572546Human
407361871GWAS1010847_Htype 2 diabetes mellitus QTL GWAS1010847 (human)3e-09type 2 diabetes mellitus106957254569572546Human
407154827GWAS803803_Htype 2 diabetes mellitus QTL GWAS803803 (human)0.000002type 2 diabetes mellitus106957254569572546Human

Markers in Region
NEUROG3_4133  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371071,331,766 - 71,332,416UniSTSGRCh37
Build 361071,001,772 - 71,002,422RGDNCBI36
Celera1064,608,626 - 64,609,276RGD
HuRef1065,321,690 - 65,322,340UniSTS
UniSTS:482136  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371071,332,113 - 71,332,993UniSTSGRCh37
Celera1064,608,973 - 64,609,853UniSTS
HuRef1065,322,037 - 65,322,915UniSTS
UniSTS:490304  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371071,331,979 - 71,333,049UniSTSGRCh37
Celera1064,608,839 - 64,609,909UniSTS
HuRef1065,321,903 - 65,322,971UniSTS
UniSTS:480863  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371071,332,037 - 71,333,034UniSTSGRCh37
Celera1064,608,897 - 64,609,894UniSTS
HuRef1065,321,961 - 65,322,956UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
853 1782 1020 1167 2509 795 1063 164 1085 93 917 3609 3633 5 2116 250 751 879 72

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF234829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ133776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL450311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ904714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000242462   ⟹   ENSP00000242462
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1069,571,698 - 69,573,422 (-)Ensembl
RefSeq Acc Id: NM_020999   ⟹   NP_066279
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381069,571,698 - 69,573,422 (-)NCBI
GRCh371071,331,791 - 71,333,210 (-)ENTREZGENE
Build 361071,001,797 - 71,003,128 (-)NCBI Archive
HuRef1065,321,715 - 65,323,132 (-)ENTREZGENE
CHM1_11071,613,524 - 71,614,943 (-)NCBI
T2T-CHM13v2.01070,439,696 - 70,441,420 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017016280   ⟹   XP_016871769
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381069,571,485 - 69,573,422 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054365966   ⟹   XP_054221941
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01070,439,446 - 70,441,420 (-)NCBI
RefSeq Acc Id: NP_066279   ⟸   NM_020999
- UniProtKB: Q6DJX6 (UniProtKB/Swiss-Prot),   Q5VVI0 (UniProtKB/Swiss-Prot),   Q9BY24 (UniProtKB/Swiss-Prot),   Q9Y4Z2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016871769   ⟸   XM_017016280
- Peptide Label: isoform X1
- UniProtKB: Q6DJX6 (UniProtKB/Swiss-Prot),   Q5VVI0 (UniProtKB/Swiss-Prot),   Q9BY24 (UniProtKB/Swiss-Prot),   Q9Y4Z2 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000242462   ⟸   ENST00000242462
RefSeq Acc Id: XP_054221941   ⟸   XM_054365966
- Peptide Label: isoform X1
- UniProtKB: Q9Y4Z2 (UniProtKB/Swiss-Prot),   Q6DJX6 (UniProtKB/Swiss-Prot),   Q5VVI0 (UniProtKB/Swiss-Prot),   Q9BY24 (UniProtKB/Swiss-Prot)
Protein Domains
bHLH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y4Z2-F1-model_v2 AlphaFold Q9Y4Z2 1-214 view protein structure

Promoters
RGD ID:7217743
Promoter ID:EPDNEW_H14617
Type:initiation region
Name:NEUROG3_1
Description:neurogenin 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381069,573,422 - 69,573,482EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13806 AgrOrtholog
COSMIC NEUROG3 COSMIC
Ensembl Genes ENSG00000122859 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000242462 ENTREZGENE
  ENST00000242462.5 UniProtKB/Swiss-Prot
Gene3D-CATH 4.10.280.10 UniProtKB/Swiss-Prot
GTEx ENSG00000122859 GTEx
HGNC ID HGNC:13806 ENTREZGENE
Human Proteome Map NEUROG3 Human Proteome Map
InterPro bHLH_dom UniProtKB/Swiss-Prot
  bHLH_transcription_factors UniProtKB/Swiss-Prot
  HLH_DNA-bd_sf UniProtKB/Swiss-Prot
  Ngn3 UniProtKB/Swiss-Prot
KEGG Report hsa:50674 UniProtKB/Swiss-Prot
NCBI Gene 50674 ENTREZGENE
OMIM 604882 OMIM
PANTHER BASIC HELIX-LOOP-HELIX PROTEIN NEUROGENIN-RELATED UniProtKB/Swiss-Prot
  PTHR19290:SF94 UniProtKB/Swiss-Prot
Pfam HLH UniProtKB/Swiss-Prot
PharmGKB PA31571 PharmGKB
PROSITE BHLH UniProtKB/Swiss-Prot
SMART HLH UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47459 UniProtKB/Swiss-Prot
UniProt E0X9P2_HUMAN UniProtKB/TrEMBL
  NGN3_HUMAN UniProtKB/Swiss-Prot
  Q5VVI0 ENTREZGENE
  Q6DJX6 ENTREZGENE
  Q9BY24 ENTREZGENE
  Q9Y4Z2 ENTREZGENE
UniProt Secondary Q5VVI0 UniProtKB/Swiss-Prot
  Q6DJX6 UniProtKB/Swiss-Prot
  Q9BY24 UniProtKB/Swiss-Prot