NODAL (nodal growth differentiation factor) - Rat Genome Database

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Gene: NODAL (nodal growth differentiation factor) Homo sapiens
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Symbol: NODAL
Name: nodal growth differentiation factor
RGD ID: 1314354
HGNC Page HGNC
Description: Enables type I activin receptor binding activity. Involved in several processes, including negative regulation of chorionic trophoblast cell proliferation; positive regulation of macromolecule metabolic process; and regulation of signal transduction. Located in extracellular space. Implicated in visceral heterotaxy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: HTX5; MGC138230; nodal homolog
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1070,431,936 - 70,447,951 (-)EnsemblGRCh38hg38GRCh38
GRCh381070,431,936 - 70,447,951 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371072,191,692 - 72,207,707 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361071,862,077 - 71,871,429 (-)NCBINCBI36hg18NCBI36
Build 341071,862,076 - 71,871,429NCBI
Celera1065,472,123 - 65,481,898 (-)NCBI
Cytogenetic Map10q22.1NCBI
HuRef1066,185,532 - 66,195,306 (-)NCBIHuRef
CHM1_11072,473,912 - 72,483,685 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
anatomical structure formation involved in morphogenesis  (ISO)
anterior/posterior axis specification  (ISO)
anterior/posterior pattern specification  (ISO)
axial mesodermal cell fate specification  (IEA,ISO)
BMP signaling pathway  (IBA)
brain development  (IEA,ISO)
cell fate commitment  (ISO)
cell migration  (ISO)
cell migration involved in gastrulation  (IEA,ISO)
determination of left/right symmetry  (ISO)
digestive system development  (ISO)
digestive tract morphogenesis  (IEA,ISO)
embryonic cranial skeleton morphogenesis  (IEA,ISO)
embryonic heart tube development  (ISO)
embryonic pattern specification  (IEA,ISO)
embryonic placenta development  (IEA,ISO)
embryonic process involved in female pregnancy  (IEA,ISO)
endoderm development  (ISO)
endodermal cell differentiation  (IMP)
epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification  (IEA,ISO)
floor plate morphogenesis  (IEA,ISO)
formation of anatomical boundary  (IEA,ISO)
gastrulation  (ISO)
gastrulation with mouth forming second  (ISO)
heart development  (ISO)
heart looping  (IEA,ISO)
in utero embryonic development  (ISO)
inhibition of neuroepithelial cell differentiation  (IEA,ISO)
left lung morphogenesis  (IEA,ISO)
liver development  (IEA,ISO)
lung development  (ISO)
maternal placenta development  (IEA,ISO)
maternal process involved in parturition  (IEA,ISO)
mesendoderm development  (IMP,ISO)
mesoderm formation  (ISO)
negative regulation of androgen receptor signaling pathway  (IDA)
negative regulation of cell development  (IEA,ISO)
negative regulation of cell differentiation  (ISO)
negative regulation of chorionic trophoblast cell proliferation  (IDA)
negative regulation of transcription by RNA polymerase II  (IEA,ISO)
negative regulation of trophoblast cell migration  (IDA)
nervous system development  (ISO)
neural fold formation  (IEA,ISO)
nodal signaling pathway  (ISO)
nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry  (IEA)
placenta development  (IMP)
polarity specification of proximal/distal axis  (IEA,ISO)
positive regulation of activin receptor signaling pathway  (IGI)
positive regulation of angiogenesis  (IMP)
positive regulation of cell population proliferation  (ISO)
positive regulation of cell-cell adhesion  (IMP)
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process  (IDA)
positive regulation of DNA-binding transcription factor activity  (IMP)
positive regulation of epithelial cell proliferation  (IDA)
positive regulation of ERK1 and ERK2 cascade  (IMP)
positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry  (ISS)
positive regulation of pathway-restricted SMAD protein phosphorylation  (IBA,IMP)
positive regulation of SMAD protein signal transduction  (IMP)
positive regulation of transcription by RNA polymerase II  (IEA,ISO)
positive regulation of vascular endothelial growth factor production  (IMP)
primitive streak formation  (ISO)
regulation of gastrulation  (IEA,ISO)
regulation of signal transduction  (ISO)
regulation of stem cell population maintenance  (TAS)
signal transduction  (IEA)
SMAD protein signal transduction  (IBA,ISO)
stem cell population maintenance  (IEA,ISO)
tissue morphogenesis  (ISO)
transforming growth factor beta receptor signaling pathway involved in primitive streak formation  (IEA,ISO)
trophectodermal cell differentiation  (ISO)
trophectodermal cellular morphogenesis  (IEA,ISO)
vasculature development  (IEA,ISO)

Cellular Component

Molecular Function

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

Human Phenotype
Abdominal situs inversus  (IAGP)
Abnormal brainstem morphology  (IAGP)
Abnormal corpus callosum morphology  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal heart rate variability  (IAGP)
Abnormal hypothalamus physiology  (IAGP)
Abnormal midbrain morphology  (IAGP)
Abnormal morphology of the olfactory bulb  (IAGP)
Abnormal vertebral morphology  (IAGP)
Abnormality of the autonomic nervous system  (IAGP)
Abnormality of the genitourinary system  (IAGP)
Abnormality of the respiratory system  (IAGP)
Abnormality of the ribs  (IAGP)
Abnormality of the septum pellucidum  (IAGP)
Absent speech  (IAGP)
Agenesis of corpus callosum  (IAGP)
Ambiguous genitalia  (IAGP)
Anterior hypopituitarism  (IAGP)
Anteriorly placed anus  (IAGP)
Anteverted nares  (IAGP)
Anxiety  (IAGP)
Apathy  (IAGP)
Aplasia of the falx cerebri  (IAGP)
Aspiration pneumonia  (IAGP)
Asthma  (IAGP)
Atrial septal defect  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bifid uvula  (IAGP)
Central apnea  (IAGP)
Central diabetes insipidus  (IAGP)
Central hypothyroidism  (IAGP)
Cerebral visual impairment  (IAGP)
Choanal atresia  (IAGP)
Chronic lung disease  (IAGP)
Cleft palate  (IAGP)
Coarctation of aorta  (IAGP)
Congenitally corrected transposition of the great arteries  (IAGP)
Constipation  (IAGP)
Cyclopia  (IAGP)
Decreased response to growth hormone stimuation test  (IAGP)
Depressed nasal ridge  (IAGP)
Depression  (IAGP)
Dextrocardia  (IAGP)
Diabetes insipidus  (IAGP)
Duodenal atresia  (IAGP)
Dysphagia  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Ethmoidal encephalocele  (IAGP)
Expressive language delay  (IAGP)
Failure to thrive  (IAGP)
Flexion contracture  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Generalized hypotonia  (IAGP)
Hemangioma  (IAGP)
Heterotaxy  (IAGP)
High palate  (IAGP)
Hip dislocation  (IAGP)
Holoprosencephaly  (IAGP)
Hydrocephalus  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the pons  (IAGP)
Hypotelorism  (IAGP)
Hypothyroidism  (IAGP)
Impulsivity  (IAGP)
Inability to walk  (IAGP)
Infantile axial hypotonia  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Iris coloboma  (IAGP)
Irritability  (IAGP)
Lethargy  (IAGP)
Limb dystonia  (IAGP)
Macrocephaly  (IAGP)
Maternal diabetes  (IAGP)
Median cleft lip  (IAGP)
Megalencephaly  (IAGP)
Microcephaly  (IAGP)
Midnasal stenosis  (IAGP)
Morphological abnormality of the gastrointestinal tract  (IAGP)
Narrow nasal bridge  (IAGP)
Neural tube defect  (IAGP)
Oromotor apraxia  (IAGP)
Panhypopituitarism  (IAGP)
Perisylvian polymicrogyria  (IAGP)
Poor speech  (IAGP)
Poor suck  (IAGP)
Precocious puberty  (IAGP)
Premature birth  (IAGP)
Proboscis  (IAGP)
Renal agenesis  (IAGP)
Rhombencephalosynapsis  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short attention span  (IAGP)
Short nose  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Single naris  (IAGP)
Situs inversus totalis  (IAGP)
Sleep-wake cycle disturbance  (IAGP)
Solitary median maxillary central incisor  (IAGP)
Spasticity  (IAGP)
Specific learning disability  (IAGP)
Strabismus  (IAGP)
Temperature instability  (IAGP)
Tented upper lip vermilion  (IAGP)
Tetralogy of Fallot  (IAGP)
Transposition of the great arteries  (IAGP)
Ventricular septal defect  (IAGP)
Vomiting  (IAGP)
References

Additional References at PubMed
PMID:8429908   PMID:9354794   PMID:12052855   PMID:12477932   PMID:12606401   PMID:15150278   PMID:15257293   PMID:15308665   PMID:15475956   PMID:15489334   PMID:15501227   PMID:15982639  
PMID:16179608   PMID:16385451   PMID:17373879   PMID:17925387   PMID:18022151   PMID:18089557   PMID:18234825   PMID:18538293   PMID:18596037   PMID:19064609   PMID:19279133   PMID:19386982  
PMID:19553149   PMID:19874624   PMID:19913121   PMID:20301702   PMID:20383200   PMID:20482672   PMID:20495543   PMID:20628086   PMID:20629020   PMID:20734064   PMID:20819778   PMID:21116837  
PMID:21159651   PMID:21356369   PMID:21532621   PMID:21630377   PMID:21656830   PMID:21741376   PMID:21873635   PMID:22002671   PMID:22031289   PMID:22352765   PMID:22381624   PMID:22454525  
PMID:22469982   PMID:22508696   PMID:22577960   PMID:22855743   PMID:23034635   PMID:23144858   PMID:23201575   PMID:23334323   PMID:23424236   PMID:23474366   PMID:23591895   PMID:23911596  
PMID:24114072   PMID:24120944   PMID:24186978   PMID:24370825   PMID:24459810   PMID:24465741   PMID:24696849   PMID:24773581   PMID:24798330   PMID:24863882   PMID:25073112   PMID:25228630  
PMID:25304053   PMID:25528267   PMID:25557170   PMID:25603319   PMID:25670856   PMID:25672326   PMID:25708930   PMID:25766327   PMID:26226633   PMID:26289399   PMID:26358078   PMID:26427715  
PMID:26662182   PMID:26791244   PMID:26951550   PMID:27007464   PMID:27325246   PMID:27466203   PMID:27592306   PMID:27659524   PMID:27775691   PMID:27811843   PMID:27881714   PMID:28126904  
PMID:28468864   PMID:28514442   PMID:28738792   PMID:28790305   PMID:29453435   PMID:29693169   PMID:29795348   PMID:30367833   PMID:30575724   PMID:30659022   PMID:30699065   PMID:30829572  
PMID:30943930   PMID:31171630   PMID:31202735   PMID:31210006   PMID:31451106   PMID:31613879   PMID:31634368   PMID:32296183   PMID:32636849   PMID:33111989   PMID:33144398   PMID:33252195  


Genomics

Comparative Map Data
NODAL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1070,431,936 - 70,447,951 (-)EnsemblGRCh38hg38GRCh38
GRCh381070,431,936 - 70,447,951 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371072,191,692 - 72,207,707 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361071,862,077 - 71,871,429 (-)NCBINCBI36hg18NCBI36
Build 341071,862,076 - 71,871,429NCBI
Celera1065,472,123 - 65,481,898 (-)NCBI
Cytogenetic Map10q22.1NCBI
HuRef1066,185,532 - 66,195,306 (-)NCBIHuRef
CHM1_11072,473,912 - 72,483,685 (-)NCBICHM1_1
Nodal
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391061,253,751 - 61,261,117 (+)NCBIGRCm39mm39
GRCm39 Ensembl1061,253,751 - 61,261,117 (+)Ensembl
GRCm381061,417,972 - 61,425,338 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1061,417,972 - 61,425,338 (+)EnsemblGRCm38mm10GRCm38
MGSCv371060,880,720 - 60,888,085 (+)NCBIGRCm37mm9NCBIm37
MGSCv361060,813,657 - 60,819,993 (+)NCBImm8
Celera1062,519,279 - 62,526,659 (+)NCBICelera
Cytogenetic Map10B4NCBI
cM Map1032.21NCBI
Nodal
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22029,368,436 - 29,376,837 (+)NCBI
Rnor_6.0 Ensembl2031,035,729 - 31,044,096 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.02031,035,729 - 31,044,096 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02032,822,880 - 32,831,247 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42029,546,982 - 29,555,419 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12029,560,988 - 29,568,536 (+)NCBI
Celera2030,797,163 - 30,805,518 (+)NCBICelera
Cytogenetic Map20q11NCBI
Nodal
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543720,828,448 - 20,835,628 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543720,828,448 - 20,835,486 (+)NCBIChiLan1.0ChiLan1.0
NODAL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11069,433,959 - 69,443,972 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1069,433,959 - 69,443,972 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01066,906,866 - 66,916,938 (-)NCBIMhudiblu_PPA_v0panPan3
NODAL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1421,366,828 - 21,374,623 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl421,367,583 - 21,375,151 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha421,499,043 - 21,506,382 (-)NCBI
ROS_Cfam_1.0421,641,721 - 21,649,105 (-)NCBI
UMICH_Zoey_3.1421,539,356 - 21,546,535 (-)NCBI
UNSW_CanFamBas_1.0421,744,769 - 21,751,938 (-)NCBI
UU_Cfam_GSD_1.0422,096,050 - 22,103,419 (-)NCBI
Nodal
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721359,674,355 - 59,686,268 (+)NCBI
SpeTri2.0NW_0049365218,171,146 - 8,178,802 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NODAL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1473,349,965 - 73,360,618 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11473,350,358 - 73,357,064 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
NODAL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1960,852,567 - 60,863,225 (+)NCBI
ChlSab1.1 Ensembl960,853,763 - 60,862,839 (+)Ensembl
Vero_WHO_p1.0NW_02366604821,593,182 - 21,609,737 (+)NCBI
Nodal
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247544,557,407 - 4,564,580 (-)NCBI

Position Markers
PMC171388P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371072,192,291 - 72,192,541UniSTSGRCh37
Build 361071,862,297 - 71,862,547RGDNCBI36
Celera1065,472,722 - 65,472,972RGD
Cytogenetic Map10q22.1UniSTS
HuRef1066,186,131 - 66,186,381UniSTS
RH44263  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371072,192,232 - 72,192,386UniSTSGRCh37
Build 361071,862,238 - 71,862,392RGDNCBI36
Celera1065,472,663 - 65,472,817RGD
Cytogenetic Map10q22.1UniSTS
HuRef1066,186,072 - 66,186,226UniSTS
GeneMap99-GB4 RH Map10370.67UniSTS
NCBI RH Map10900.9UniSTS
A008L32  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371072,201,686 - 72,201,785UniSTSGRCh37
Build 361071,871,692 - 71,871,791RGDNCBI36
Celera1065,482,119 - 65,482,218RGD
Cytogenetic Map10q22.1UniSTS
HuRef1066,195,527 - 66,195,626UniSTS
GeneMap99-GB4 RH Map10367.07UniSTS
NCBI RH Map10865.5UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:689
Count of miRNA genes:371
Interacting mature miRNAs:396
Transcripts:ENST00000287139, ENST00000414871
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 6 121 20 15 2 3 20
Low 1276 1451 286 94 470 16 3904 1346 2205 62 1032 737 78 1027 2606
Below cutoff 1053 1399 1105 375 961 293 258 760 1383 269 332 705 88 171 155 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000287139   ⟹   ENSP00000287139
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1070,431,936 - 70,441,681 (-)Ensembl
RefSeq Acc Id: ENST00000414871   ⟹   ENSP00000394468
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1070,432,749 - 70,447,951 (-)Ensembl
RefSeq Acc Id: NM_001329906   ⟹   NP_001316835
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381070,431,936 - 70,447,951 (-)NCBI
Sequence:
RefSeq Acc Id: NM_018055   ⟹   NP_060525
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381070,431,936 - 70,441,681 (-)NCBI
GRCh371072,191,692 - 72,201,465 (-)ENTREZGENE
Build 361071,862,077 - 71,871,429 (-)NCBI Archive
HuRef1066,185,532 - 66,195,306 (-)ENTREZGENE
CHM1_11072,473,912 - 72,483,685 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024448028   ⟹   XP_024303796
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381070,432,452 - 70,442,267 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_060525   ⟸   NM_018055
- Peptide Label: isoform 1 preproprotein
- UniProtKB: Q96S42 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001316835   ⟸   NM_001329906
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: XP_024303796   ⟸   XM_024448028
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000394468   ⟸   ENST00000414871
RefSeq Acc Id: ENSP00000287139   ⟸   ENST00000287139
Protein Domains
TGF_BETA_2

Promoters
RGD ID:7217765
Promoter ID:EPDNEW_H14628
Type:multiple initiation site
Name:NODAL_1
Description:nodal growth differentiation factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381070,441,681 - 70,441,741EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_018055.5(NODAL):c.548G>A (p.Arg183Gln) single nucleotide variant Visceral heterotaxy 5, autosomal [RCV000008757]|not provided [RCV000081931] Chr10:70435629 [GRCh38]
Chr10:72195385 [GRCh37]
Chr10:10q22.1
pathogenic|benign|uncertain significance
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) single nucleotide variant Inborn genetic diseases [RCV000622859]|Visceral heterotaxy 5, autosomal [RCV000008758]|Wolff-Parkinson-White pattern [RCV000656169]|heterotaxia syndrome [RCV000853249] Chr10:70435399 [GRCh38]
Chr10:72195155 [GRCh37]
Chr10:10q22.1
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity
NODAL, 9-BP INS/24-BP DEL, NT700 indel Visceral heterotaxy 5, autosomal [RCV000008759] Chr10:10q22.1 pathogenic
NODAL, IVS2DS, G-A, +1 single nucleotide variant Situs inversus [RCV000008760]|Visceral heterotaxy 5, autosomal [RCV000008760] Chr10:10q22.1 pathogenic
NM_018055.5(NODAL):c.759G>A (p.Gln253=) single nucleotide variant not provided [RCV000531752] Chr10:70435418 [GRCh38]
Chr10:72195174 [GRCh37]
Chr10:10q22.1
likely benign
GRCh38/hg38 10q22.1(chr10:70036168-70522664)x3 copy number gain See cases [RCV000051139] Chr10:70036168..70522664 [GRCh38]
Chr10:71795924..72282420 [GRCh37]
Chr10:71465930..71952426 [NCBI36]
Chr10:10q22.1
uncertain significance
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_018055.5(NODAL):c.193+12C>T single nucleotide variant Holoprosencephaly sequence [RCV000337591]|Visceral heterotaxy 5, autosomal [RCV000278240]|not specified [RCV000081929] Chr10:70441463 [GRCh38]
Chr10:72201219 [GRCh37]
Chr10:10q22.1
benign
NM_018055.5(NODAL):c.494A>G (p.His165Arg) single nucleotide variant Holoprosencephaly sequence [RCV000348733]|Visceral heterotaxy 5, autosomal [RCV000999799]|not specified [RCV000081930] Chr10:70435683 [GRCh38]
Chr10:72195439 [GRCh37]
Chr10:10q22.1
benign
NM_018055.5(NODAL):c.904C>T (p.Arg302Cys) single nucleotide variant Holoprosencephaly sequence [RCV001107530]|Visceral heterotaxy 5, autosomal [RCV000650234]|not provided [RCV000723605]|not specified [RCV000242434] Chr10:70433076 [GRCh38]
Chr10:72192832 [GRCh37]
Chr10:10q22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
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
NM_018055.5(NODAL):c.662G>A (p.Arg221Gln) single nucleotide variant not provided [RCV000199745] Chr10:70435515 [GRCh38]
Chr10:72195271 [GRCh37]
Chr10:10q22.1
likely benign
NM_018055.5(NODAL):c.700_707del (p.Arg234fs) deletion Visceral heterotaxy 5, autosomal [RCV000754877] Chr10:70435470..70435477 [GRCh38]
Chr10:72195226..72195233 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_018055.5(NODAL):c.194-1G>T single nucleotide variant Visceral heterotaxy 5, autosomal [RCV000754878] Chr10:70435984 [GRCh38]
Chr10:72195740 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_018055.5(NODAL):c.891+1G>A single nucleotide variant Visceral heterotaxy 5, autosomal [RCV000231796] Chr10:70435285 [GRCh38]
Chr10:72195041 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_018055.5(NODAL):c.607G>A (p.Glu203Lys) single nucleotide variant Holoprosencephaly sequence [RCV000324034]|Visceral heterotaxy 5, autosomal [RCV000860530]|not specified [RCV000250863] Chr10:70435570 [GRCh38]
Chr10:72195326 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_018055.5(NODAL):c.531T>C (p.Ala177=) single nucleotide variant Visceral heterotaxy 5, autosomal [RCV000867373]|not specified [RCV000242087] Chr10:70435646 [GRCh38]
Chr10:72195402 [GRCh37]
Chr10:10q22.1
likely benign
NM_018055.5(NODAL):c.588C>G (p.Leu196=) single nucleotide variant Holoprosencephaly sequence [RCV000384312]|Visceral heterotaxy 5, autosomal [RCV001081193]|not provided [RCV000755329]|not specified [RCV000247512] Chr10:70435589 [GRCh38]
Chr10:72195345 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_018055.5(NODAL):c.593C>A (p.Ser198Tyr) single nucleotide variant Holoprosencephaly sequence [RCV000376036]|Visceral heterotaxy 5, autosomal [RCV000284132] Chr10:70435584 [GRCh38]
Chr10:72195340 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.125C>T (p.Ala42Val) single nucleotide variant Holoprosencephaly sequence [RCV000302530]|Visceral heterotaxy 5, autosomal [RCV000390453] Chr10:70441543 [GRCh38]
Chr10:72201299 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.*404T>C single nucleotide variant Holoprosencephaly sequence [RCV000347667]|Visceral heterotaxy 5, autosomal [RCV000402222] Chr10:70432532 [GRCh38]
Chr10:72192288 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_018055.5(NODAL):c.281G>A (p.Arg94Gln) single nucleotide variant Holoprosencephaly sequence [RCV000270266]|Visceral heterotaxy 5, autosomal [RCV000870683] Chr10:70435896 [GRCh38]
Chr10:72195652 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_018055.5(NODAL):c.*887C>T single nucleotide variant Holoprosencephaly sequence [RCV000304331]|Visceral heterotaxy 5, autosomal [RCV000401767] Chr10:70432049 [GRCh38]
Chr10:72191805 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.280C>T (p.Arg94Trp) single nucleotide variant Holoprosencephaly sequence [RCV000384350]|Visceral heterotaxy 5, autosomal [RCV000325273] Chr10:70435897 [GRCh38]
Chr10:72195653 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.550C>T (p.Pro184Ser) single nucleotide variant Holoprosencephaly sequence [RCV000345169]|Visceral heterotaxy 5, autosomal [RCV000287823] Chr10:70435627 [GRCh38]
Chr10:72195383 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.*356G>A single nucleotide variant Holoprosencephaly sequence [RCV000308501]|Visceral heterotaxy 5, autosomal [RCV000370124] Chr10:70432580 [GRCh38]
Chr10:72192336 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_018055.5(NODAL):c.*678G>A single nucleotide variant Holoprosencephaly sequence [RCV000318092]|Visceral heterotaxy 5, autosomal [RCV000274701] Chr10:70432258 [GRCh38]
Chr10:72192014 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.*479C>T single nucleotide variant Holoprosencephaly sequence [RCV000290925]|Visceral heterotaxy 5, autosomal [RCV000395059] Chr10:70432457 [GRCh38]
Chr10:72192213 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_018055.5(NODAL):c.*740T>C single nucleotide variant Holoprosencephaly sequence [RCV000363504]|Visceral heterotaxy 5, autosomal [RCV000275969] Chr10:70432196 [GRCh38]
Chr10:72191952 [GRCh37]
Chr10:10q22.1
benign
NM_018055.5(NODAL):c.*722G>C single nucleotide variant Holoprosencephaly sequence [RCV000333116]|Visceral heterotaxy 5, autosomal [RCV000366778] Chr10:70432214 [GRCh38]
Chr10:72191970 [GRCh37]
Chr10:10q22.1
benign
NM_018055.5(NODAL):c.*121C>A single nucleotide variant Holoprosencephaly sequence [RCV000311896]|Visceral heterotaxy 5, autosomal [RCV000407636] Chr10:70432815 [GRCh38]
Chr10:72192571 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.*62A>T single nucleotide variant Holoprosencephaly sequence [RCV000368813]|Visceral heterotaxy 5, autosomal [RCV000262553] Chr10:70432874 [GRCh38]
Chr10:72192630 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_018055.5(NODAL):c.*677C>T single nucleotide variant Holoprosencephaly sequence [RCV000279055]|Visceral heterotaxy 5, autosomal [RCV000375842] Chr10:70432259 [GRCh38]
Chr10:72192015 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_018055.5(NODAL):c.216C>T (p.Asn72=) single nucleotide variant Holoprosencephaly sequence [RCV000385523]|Visceral heterotaxy 5, autosomal [RCV000469262] Chr10:70435961 [GRCh38]
Chr10:72195717 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_018055.5(NODAL):c.963G>A (p.Leu321=) single nucleotide variant Holoprosencephaly sequence [RCV000354209]|Visceral heterotaxy 5, autosomal [RCV000315801] Chr10:70433017 [GRCh38]
Chr10:72192773 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_018055.5(NODAL):c.357C>T (p.Pro119=) single nucleotide variant Holoprosencephaly sequence [RCV000264437]|Visceral heterotaxy 5, autosomal [RCV000459943] Chr10:70435820 [GRCh38]
Chr10:72195576 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_018055.5(NODAL):c.417C>T (p.Val139=) single nucleotide variant Holoprosencephaly sequence [RCV000299703]|Visceral heterotaxy 5, autosomal [RCV000356936] Chr10:70435760 [GRCh38]
Chr10:72195516 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_018055.5(NODAL):c.393G>C (p.Arg131=) single nucleotide variant Holoprosencephaly sequence [RCV000299723]|Visceral heterotaxy 5, autosomal [RCV000399851] Chr10:70435784 [GRCh38]
Chr10:72195540 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.*886G>A single nucleotide variant Holoprosencephaly sequence [RCV000342830]|Visceral heterotaxy 5, autosomal [RCV000401572] Chr10:70432050 [GRCh38]
Chr10:72191806 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_018055.5(NODAL):c.-9C>T single nucleotide variant Holoprosencephaly sequence [RCV000399976]|Visceral heterotaxy 5, autosomal [RCV000343377] Chr10:70441676 [GRCh38]
Chr10:72201432 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.221C>T (p.Thr74Met) single nucleotide variant Holoprosencephaly sequence [RCV000330986]|Visceral heterotaxy 5, autosomal [RCV000271207] Chr10:70435956 [GRCh38]
Chr10:72195712 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.*747dup duplication Heterotaxia [RCV000272395]|Holoprosencephaly sequence [RCV000306394] Chr10:70432188..70432189 [GRCh38]
Chr10:72191944..72191945 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.*836G>C single nucleotide variant Holoprosencephaly sequence [RCV000364757]|Visceral heterotaxy 5, autosomal [RCV000302995] Chr10:70432100 [GRCh38]
Chr10:72191856 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.*676C>T single nucleotide variant Holoprosencephaly sequence [RCV000379278]|Visceral heterotaxy 5, autosomal [RCV000317668] Chr10:70432260 [GRCh38]
Chr10:72192016 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.296del (p.Ser99fs) deletion NODAL-Related Disorders [RCV000305471] Chr10:70435881 [GRCh38]
Chr10:72195637 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.203T>C (p.Val68Ala) single nucleotide variant Holoprosencephaly sequence [RCV000350811]|Visceral heterotaxy 5, autosomal [RCV000372771] Chr10:70435974 [GRCh38]
Chr10:72195730 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.514C>G (p.Gln172Glu) single nucleotide variant Holoprosencephaly sequence [RCV000396599]|Visceral heterotaxy 5, autosomal [RCV000296040] Chr10:70435663 [GRCh38]
Chr10:72195419 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.*480G>A single nucleotide variant Holoprosencephaly sequence [RCV000287323]|Visceral heterotaxy 5, autosomal [RCV000339972] Chr10:70432456 [GRCh38]
Chr10:72192212 [GRCh37]
Chr10:10q22.1
uncertain significance
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_018055.5(NODAL):c.658T>C (p.Trp220Arg) single nucleotide variant Visceral heterotaxy 5, autosomal [RCV000464032] Chr10:70435519 [GRCh38]
Chr10:72195275 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.824G>A (p.Arg275His) single nucleotide variant heterotaxia syndrome [RCV000853256]|not provided [RCV000485605] Chr10:70435353 [GRCh38]
Chr10:72195109 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_018055.5(NODAL):c.742C>T (p.Arg248Trp) single nucleotide variant not provided [RCV000482914] Chr10:70435435 [GRCh38]
Chr10:72195191 [GRCh37]
Chr10:10q22.1
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
NM_018055.5(NODAL):c.9C>T (p.Ala3=) single nucleotide variant Visceral heterotaxy 5, autosomal [RCV001449109]|not provided [RCV000536615] Chr10:70441659 [GRCh38]
Chr10:72201415 [GRCh37]
Chr10:10q22.1
likely benign
NM_018055.5(NODAL):c.870G>T (p.Pro290=) single nucleotide variant Visceral heterotaxy 5, autosomal [RCV000558327] Chr10:70435307 [GRCh38]
Chr10:72195063 [GRCh37]
Chr10:10q22.1
likely benign
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
NM_018055.5(NODAL):c.673G>A (p.Gly225Arg) single nucleotide variant Visceral heterotaxy 5, autosomal [RCV000687327] Chr10:70435504 [GRCh38]
Chr10:72195260 [GRCh37]
Chr10:10q22.1
uncertain significance
NC_000010.10:g.(?_72179670)_(72360658_?)dup duplication Visceral heterotaxy 5, autosomal [RCV000707791] Chr10:70419914..70600902 [GRCh38]
Chr10:72179670..72360658 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.891+2T>A single nucleotide variant Visceral heterotaxy 5, autosomal [RCV000692352] Chr10:70435284 [GRCh38]
Chr10:72195040 [GRCh37]
Chr10:10q22.1
likely pathogenic|uncertain significance
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_018055.5(NODAL):c.397C>T (p.Gln133Ter) single nucleotide variant Visceral heterotaxy 5, autosomal [RCV000754879] Chr10:70435780 [GRCh38]
Chr10:72195536 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.355C>T (p.Pro119Ser) single nucleotide variant Visceral heterotaxy 5, autosomal [RCV001053150] Chr10:70435822 [GRCh38]
Chr10:72195578 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.561G>A (p.Pro187=) single nucleotide variant not provided [RCV000973880] Chr10:70435616 [GRCh38]
Chr10:72195372 [GRCh37]
Chr10:10q22.1
likely benign
NM_018055.5(NODAL):c.518T>C (p.Met173Thr) single nucleotide variant not provided [RCV000864621] Chr10:70435659 [GRCh38]
Chr10:72195415 [GRCh37]
Chr10:10q22.1
benign
NM_018055.5(NODAL):c.945A>G (p.Pro315=) single nucleotide variant not provided [RCV000867124] Chr10:70433035 [GRCh38]
Chr10:72192791 [GRCh37]
Chr10:10q22.1
likely benign
NM_018055.5(NODAL):c.972G>A (p.Leu324=) single nucleotide variant Holoprosencephaly sequence [RCV001107529]|Visceral heterotaxy 5, autosomal [RCV000864366] Chr10:70433008 [GRCh38]
Chr10:72192764 [GRCh37]
Chr10:10q22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018055.5(NODAL):c.661C>T (p.Arg221Trp) single nucleotide variant Visceral heterotaxy 5, autosomal [RCV001043515] Chr10:70435516 [GRCh38]
Chr10:72195272 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.1020C>T (p.Ile340=) single nucleotide variant not provided [RCV000866236] Chr10:70432960 [GRCh38]
Chr10:72192716 [GRCh37]
Chr10:10q22.1
likely benign
NM_018055.5(NODAL):c.473C>T (p.Pro158Leu) single nucleotide variant Visceral heterotaxy 5, autosomal [RCV001441677]|not provided [RCV000874557] Chr10:70435704 [GRCh38]
Chr10:72195460 [GRCh37]
Chr10:10q22.1
likely benign
NM_018055.5(NODAL):c.916C>T (p.His306Tyr) single nucleotide variant Visceral heterotaxy 5, autosomal [RCV000863652] Chr10:70433064 [GRCh38]
Chr10:72192820 [GRCh37]
Chr10:10q22.1
likely benign
NM_018055.5(NODAL):c.446del (p.Gly149fs) deletion Visceral heterotaxy 5, autosomal [RCV000821532] Chr10:70435731 [GRCh38]
Chr10:72195487 [GRCh37]
Chr10:10q22.1
pathogenic
NM_018055.5(NODAL):c.661C>A (p.Arg221=) single nucleotide variant Visceral heterotaxy 5, autosomal [RCV000872775] Chr10:70435516 [GRCh38]
Chr10:72195272 [GRCh37]
Chr10:10q22.1
likely benign
NM_018055.5(NODAL):c.924C>T (p.Val308=) single nucleotide variant Visceral heterotaxy 5, autosomal [RCV000863937] Chr10:70433056 [GRCh38]
Chr10:72192812 [GRCh37]
Chr10:10q22.1
likely benign
NM_018055.5(NODAL):c.679C>G (p.Leu227Val) single nucleotide variant Visceral heterotaxy 5, autosomal [RCV000817805] Chr10:70435498 [GRCh38]
Chr10:72195254 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.36C>T (p.Ala12=) single nucleotide variant not provided [RCV000870357] Chr10:70441632 [GRCh38]
Chr10:72201388 [GRCh37]
Chr10:10q22.1
likely benign
NM_018055.5(NODAL):c.107C>G (p.Ser36Trp) single nucleotide variant Visceral heterotaxy 5, autosomal [RCV001218076] Chr10:70441561 [GRCh38]
Chr10:72201317 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.*829T>G single nucleotide variant Holoprosencephaly sequence [RCV001106785]|Visceral heterotaxy 5, autosomal [RCV001106786] Chr10:70432107 [GRCh38]
Chr10:72191863 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.*328G>A single nucleotide variant Holoprosencephaly sequence [RCV001106856]|Visceral heterotaxy 5, autosomal [RCV001106857] Chr10:70432608 [GRCh38]
Chr10:72192364 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.670G>A (p.Glu224Lys) single nucleotide variant Holoprosencephaly sequence [RCV001103913]|Visceral heterotaxy 5, autosomal [RCV001103914] Chr10:70435507 [GRCh38]
Chr10:72195263 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.555C>A (p.Pro185=) single nucleotide variant Holoprosencephaly sequence [RCV001104193]|Visceral heterotaxy 5, autosomal [RCV001104192] Chr10:70435622 [GRCh38]
Chr10:72195378 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.*729A>G single nucleotide variant Holoprosencephaly sequence [RCV001107421]|Visceral heterotaxy 5, autosomal [RCV001107420] Chr10:70432207 [GRCh38]
Chr10:72191963 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.*360A>G single nucleotide variant Holoprosencephaly sequence [RCV001105738]|Visceral heterotaxy 5, autosomal [RCV001105739] Chr10:70432576 [GRCh38]
Chr10:72192332 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.672G>A (p.Glu224=) single nucleotide variant Visceral heterotaxy 5, autosomal [RCV000866883] Chr10:70435505 [GRCh38]
Chr10:72195261 [GRCh37]
Chr10:10q22.1
likely benign
NM_018055.5(NODAL):c.*329A>C single nucleotide variant Holoprosencephaly sequence [RCV001106855]|Visceral heterotaxy 5, autosomal [RCV001105740] Chr10:70432607 [GRCh38]
Chr10:72192363 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.*820G>C single nucleotide variant Holoprosencephaly sequence [RCV001106788]|Visceral heterotaxy 5, autosomal [RCV001106787] Chr10:70432116 [GRCh38]
Chr10:72191872 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.819C>G (p.Ala273=) single nucleotide variant Holoprosencephaly sequence [RCV001107531]|Visceral heterotaxy 5, autosomal [RCV001103910] Chr10:70435358 [GRCh38]
Chr10:72195114 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.702G>A (p.Arg234=) single nucleotide variant Holoprosencephaly sequence [RCV001103911]|Visceral heterotaxy 5, autosomal [RCV001103912] Chr10:70435475 [GRCh38]
Chr10:72195231 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.555dup (p.Thr186fs) duplication Congenitally corrected transposition of the great arteries [RCV001007638] Chr10:70435621..70435622 [GRCh38]
Chr10:72195377..72195378 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.512A>T (p.Lys171Met) single nucleotide variant Holoprosencephaly sequence [RCV001106969]|Visceral heterotaxy 5, autosomal [RCV001106970] Chr10:70435665 [GRCh38]
Chr10:72195421 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.347A>T (p.Gln116Leu) single nucleotide variant Visceral heterotaxy 5, autosomal [RCV001065826] Chr10:70435830 [GRCh38]
Chr10:72195586 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.254A>G (p.Gln85Arg) single nucleotide variant Visceral heterotaxy 5, autosomal [RCV001036114] Chr10:70435923 [GRCh38]
Chr10:72195679 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.*125A>C single nucleotide variant Holoprosencephaly sequence [RCV001106859]|Visceral heterotaxy 5, autosomal [RCV001106858] Chr10:70432811 [GRCh38]
Chr10:72192567 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.467C>T (p.Thr156Ile) single nucleotide variant Holoprosencephaly sequence [RCV001107628]|Visceral heterotaxy 5, autosomal [RCV001106971] Chr10:70435710 [GRCh38]
Chr10:72195466 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.823C>T (p.Arg275Cys) single nucleotide variant Heart, malformation of [RCV001257381] Chr10:70435354 [GRCh38]
Chr10:72195110 [GRCh37]
Chr10:10q22.1
pathogenic
NM_018055.5(NODAL):c.169ATC[1] (p.Ile58del) microsatellite Heart, malformation of [RCV001257382] Chr10:70441494..70441496 [GRCh38]
Chr10:72201250..72201252 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.591C>A (p.Tyr197Ter) single nucleotide variant Visceral heterotaxy 5, autosomal [RCV001267676] Chr10:70435586 [GRCh38]
Chr10:72195342 [GRCh37]
Chr10:10q22.1
pathogenic
NM_018055.5(NODAL):c.817G>A (p.Ala273Thr) single nucleotide variant Visceral heterotaxy 5, autosomal [RCV001312616] Chr10:70435360 [GRCh38]
Chr10:72195116 [GRCh37]
Chr10:10q22.1
uncertain significance
NC_000010.10:g.(?_72179670)_(72360658_?)dup duplication Familial hemophagocytic lymphohistiocytosis 2 [RCV001322541]|Visceral heterotaxy 5, autosomal [RCV000707791] Chr10:72179670..72360658 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.926C>T (p.Pro309Leu) single nucleotide variant Visceral heterotaxy 5, autosomal [RCV001329038] Chr10:70433054 [GRCh38]
Chr10:72192810 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.53A>G (p.Gln18Arg) single nucleotide variant Visceral heterotaxy 5, autosomal [RCV001308344] Chr10:70441615 [GRCh38]
Chr10:72201371 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018055.5(NODAL):c.816C>T (p.Asn272=) single nucleotide variant Visceral heterotaxy 5, autosomal [RCV001512544] Chr10:70435361 [GRCh38]
Chr10:72195117 [GRCh37]
Chr10:10q22.1
benign
NM_018055.5(NODAL):c.545C>T (p.Pro182Leu) single nucleotide variant Visceral heterotaxy 5, autosomal [RCV001470498] Chr10:70435632 [GRCh38]
Chr10:72195388 [GRCh37]
Chr10:10q22.1
likely benign
NM_018055.5(NODAL):c.555del (p.Thr186fs) deletion Visceral heterotaxy 5, autosomal [RCV001381991] Chr10:70435622 [GRCh38]
Chr10:72195378 [GRCh37]
Chr10:10q22.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7865 AgrOrtholog
COSMIC NODAL COSMIC
Ensembl Genes ENSG00000156574 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000287139 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000394468 UniProtKB/TrEMBL
Ensembl Transcript ENST00000287139 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000414871 UniProtKB/TrEMBL
Gene3D-CATH 2.10.90.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000156574 GTEx
HGNC ID HGNC:7865 ENTREZGENE
Human Proteome Map NODAL Human Proteome Map
InterPro Cystine-knot_cytokine UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGF-b_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGF-beta-rel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGFb_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4838 UniProtKB/Swiss-Prot
NCBI Gene 4838 ENTREZGENE
OMIM 270100 OMIM
  601265 OMIM
PANTHER PTHR11848 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TGF_beta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31669 PharmGKB
PROSITE TGF_BETA_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGF_BETA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TGFB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57501 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt H7C0E4_HUMAN UniProtKB/TrEMBL
  NODAL_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q2M3A5 UniProtKB/Swiss-Prot
  Q8N4V3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-12-12 NODAL  nodal growth differentiation factor    nodal homolog (mouse)  Symbol and/or name change 5135510 APPROVED
2011-08-16 NODAL  nodal homolog (mouse)  NODAL  nodal homolog (mouse)  Symbol and/or name change 5135510 APPROVED