DTGA1
MCID: TRN038
MIFTS: 39

Transposition of the Great Arteries, Dextro-Looped 1 (DTGA1)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Transposition of the Great Arteries, Dextro-Looped 1

MalaCards integrated aliases for Transposition of the Great Arteries, Dextro-Looped 1:

Name: Transposition of the Great Arteries, Dextro-Looped 1 57 29 13 6 70
Dtga1 57 12 72
D-Tga 57 72
Dextro-Looped Transposition of the Great Arteries 1 12
Transposition of the Great Arteries Dextro-Looped 1 72
Transposition of Great Vessels 44

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
incomplete penetrance

Inheritance:
autosomal dominant


HPO:

31
transposition of the great arteries, dextro-looped 1:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060771
OMIM® 57 608808
MeSH 44 D014188
ICD10 32 Q20.3
MedGen 41 C1837341
SNOMED-CT via HPO 68 204296002 26146002 263681008
UMLS 70 C1837341

Summaries for Transposition of the Great Arteries, Dextro-Looped 1

OMIM® : 57 The more common form of transposition of the great arteries, dextro-looped TGA, consists of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. (In the less common type of TGA, levo-looped TGA, the ventricles are inverted instead) (Goldmuntz et al., 2002). This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. Patients with TGA often have atrial and/or ventricular septal defects or other types of shunting that allow some mixing between the circulations in order to support life minimally, but surgical intervention is always required. (608808) (Updated 05-Apr-2021)

MalaCards based summary : Transposition of the Great Arteries, Dextro-Looped 1, also known as dtga1, is related to dextro-looped transposition of the great arteries and heterotaxy, visceral, 1, x-linked. An important gene associated with Transposition of the Great Arteries, Dextro-Looped 1 is MED13L (Mediator Complex Subunit 13L). The drugs Mechlorethamine and Eplerenone have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and endothelial, and related phenotype is transposition of the great arteries.

Disease Ontology : 12 A dextro-looped transposition of the great arteries that has material basis in heterozygous missense mutation in the MED13L gene on chromosome 12q24.

UniProtKB/Swiss-Prot : 72 Transposition of the great arteries dextro-looped 1: A congenital heart defect consisting of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. The presence or absence of associated cardiac anomalies defines the clinical presentation and surgical management of patients with transposition of the great arteries.

Related Diseases for Transposition of the Great Arteries, Dextro-Looped 1

Diseases in the Dextro-Looped Transposition of the Great Arteries family:

Transposition of the Great Arteries, Dextro-Looped 1 Dextro-Looped Transposition of the Great Arteries 3

Diseases related to Transposition of the Great Arteries, Dextro-Looped 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 dextro-looped transposition of the great arteries 11.7
2 heterotaxy, visceral, 1, x-linked 11.2
3 hyperthermia induced defects 11.2
4 dextrocardia 10.5
5 situs inversus 10.5
6 congenitally corrected transposition of the great arteries 10.4
7 atrial heart septal defect 10.3
8 aortic valve insufficiency 10.3
9 ventricular septal defect 10.3
10 tetralogy of fallot 10.3
11 atrioventricular block 10.3
12 mitral valve insufficiency 10.3
13 aortic arch interruption 10.3
14 heart septal defect 10.3
15 patent ductus arteriosus 1 10.2
16 metabolic acidosis 10.2
17 sick sinus syndrome 10.2
18 pulmonary valve insufficiency 10.2
19 tricuspid valve insufficiency 10.2
20 double outlet right ventricle 10.2
21 pulmonary valve stenosis 10.2
22 isolated levocardia 10.2
23 subpulmonary stenosis 10.2
24 levocardia 10.2
25 cleft palate, isolated 10.0
26 pulmonary hypertension, primary, 1 10.0
27 digeorge syndrome 10.0
28 pulmonic stenosis 10.0
29 orthostatic intolerance 10.0
30 sinoatrial node disease 10.0
31 cardiac arrest 10.0
32 pre-eclampsia 10.0
33 eclampsia 10.0
34 patent foramen ovale 10.0
35 amenorrhea 10.0
36 acquired polycythemia 10.0
37 tricuspid valve stenosis 10.0
38 coronary stenosis 10.0
39 intracranial embolism 10.0
40 subvalvular aortic stenosis 10.0
41 polycythemia 10.0
42 cytokine deficiency 10.0
43 dextrocardia with situs inversus 10.0
44 double outlet left ventricle 10.0
45 mitral atresia 10.0
46 pulmonary supravalvular stenosis 10.0
47 syncope 10.0
48 pik3ca-related overgrowth syndrome 10.0
49 coarctation of aorta 9.9
50 tricuspid atresia 9.9

Graphical network of the top 20 diseases related to Transposition of the Great Arteries, Dextro-Looped 1:



Diseases related to Transposition of the Great Arteries, Dextro-Looped 1

Symptoms & Phenotypes for Transposition of the Great Arteries, Dextro-Looped 1

Human phenotypes related to Transposition of the Great Arteries, Dextro-Looped 1:

31
# Description HPO Frequency HPO Source Accession
1 transposition of the great arteries 31 HP:0001669

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Vascular:
dextro-looped transposition of the great arteries

Clinical features from OMIM®:

608808 (Updated 05-Apr-2021)

Drugs & Therapeutics for Transposition of the Great Arteries, Dextro-Looped 1

Drugs for Transposition of the Great Arteries, Dextro-Looped 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 51)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mechlorethamine Approved, Investigational Phase 4 51-75-2 4033
2
Eplerenone Approved Phase 4 107724-20-9 443872 150310
3 Mineralocorticoids Phase 4
4 Mineralocorticoid Receptor Antagonists Phase 4
5 Hormone Antagonists Phase 4
6 Antihypertensive Agents Phase 4
7 diuretics Phase 4
8 Hormones Phase 4
9 Diuretics, Potassium Sparing Phase 4
10
Nitric Oxide Approved Phase 3 10102-43-9 145068
11
Tadalafil Approved, Investigational Phase 3 171596-29-5 110635
12 Respiratory System Agents Phase 3
13 Antioxidants Phase 3
14 Protective Agents Phase 3
15 Anti-Asthmatic Agents Phase 3
16 Neurotransmitter Agents Phase 3
17 Bronchodilator Agents Phase 3
18 Endothelium-Dependent Relaxing Factors Phase 3
19 Vasodilator Agents Phase 3
20 Phosphodiesterase Inhibitors Phase 3
21 Phosphodiesterase 5 Inhibitors Phase 3
22
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
23
Simendan Investigational Phase 2 131741-08-7
24 Pharmaceutical Solutions Phase 2
25 Expectorants Phase 2
26 N-monoacetylcystine Phase 2
27 Antiviral Agents Phase 2
28 Antidotes Phase 2
29 Anti-Infective Agents Phase 2
30 Cardiotonic Agents Phase 2
31 Phosphodiesterase 3 Inhibitors Phase 2
32 Anticoagulants Phase 2
33 Dextrans Phase 2
34 Plasma Substitutes Phase 2
35 Blood Substitutes Phase 2
36 Epoetin alfa Phase 1, Phase 2 113427-24-0
37 Hematinics Phase 1, Phase 2
38
Dexmedetomidine Approved, Vet_approved Phase 1 113775-47-6 5311068 68602
39 Adrenergic Agents Phase 1
40 Adrenergic Agonists Phase 1
41 Adrenergic alpha-Agonists Phase 1
42 Analgesics, Non-Narcotic Phase 1
43 Hypnotics and Sedatives Phase 1
44 Analgesics Phase 1
45
Dobutamine Approved 34368-04-2 36811
46
tannic acid Approved 1401-55-4
47
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
48 3-Iodobenzylguanidine
49 Adrenergic Antagonists
50 Adrenergic beta-Antagonists

Interventional clinical trials:

(show all 33)
# Name Status NCT ID Phase Drugs
1 Aldosterone Antagonists in Systemic Right Ventricle: a Randomized Clinical Trial. Completed NCT00703352 Phase 4 Eplerenone
2 Eplerenone to Prevent Myocardial Fibrosis in Congenital Heart Disease Terminated NCT01971593 Phase 4 Eplerenone
3 Infant Heart Surgery: Central Nervous System Sequelae of Circulatory Arrest Completed NCT00000470 Phase 3
4 Hematocrit Strategy in Infant Heart Surgery Completed NCT00006183 Phase 3
5 A Randomised Controlled Trial of Nitric Oxide Administration During Cardiopulmonary Bypass in Infants Undergoing Arterial Switch Operation for Repair of Transposition of the Great Arteries Recruiting NCT03661385 Phase 3 Nitric Oxide
6 Effect of Phosphodiesterase-5 Inhibition With Tadalafil on SystEmic Right VEntricular Size and Function - a Multi-center, Double-blind, Randomized, Placebo-controlled Clinical Trial - SERVE Trial Active, not recruiting NCT03049540 Phase 3 Tadalafil 20 MG;Placebo 20 MG
7 Attenuation of Myocardial Dysfunction by N-Acetylcysteine in Infants Undergoing Arterial Switch Procedure Completed NCT00374088 Phase 2 N-acetylcysteine;Placebo
8 Perioperative Levosimendan Administration in Neonates With Transposition of the Great Arteries: Randomized Controlled Trial Completed NCT01120106 Phase 2 levosimendan;placebo
9 The Use of Hypertonic Saline Dextran in Cardiac Surgery Utilizing Cardio Pulmonary Bypass in Children Less Than 17 Weeks Old. Completed NCT00199771 Phase 2 7.5% NaCl in 6% dextran 70 solution
10 Erythropoetin Neuroprotection for Neonatal Cardiac Surgery Completed NCT00513240 Phase 1, Phase 2 Erythropoetin;Normal saline
11 A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics Completed NCT01915277 Phase 1 Dexmedetomidine
12 Cardiovascular Magnetic Resonance at Rest and Stress in Relation to Cardiopulmonary Exercise Capacity in Young Adults After Arterial Switch Operation (ASO) for Transposition of the Great Arteries (TGA) Unknown status NCT02415491
13 Characterization of the Cardiac Reinnervation of Patients With Transposition of the Great Arteries Long After Repair With the Arterial Switch Operation. Correlation With Electrocardiographic and Exercise Test Parameters Unknown status NCT03469843
14 Influence of Physical Training on Cardiopulmonary Exercise Capacity and Right Ventricular Function in Patients With D-TGA and Atrial Switch Operation. Completed NCT00837603
15 Late Function After Surgery for Transposition of the Great Arteries Completed NCT03078413
16 MRI Study After Arterial Switch Operation in Patients With Transposition of the Great Arteries Completed NCT01916499
17 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
18 Quantification of the Myocardial Microcirculation by Contrast Echocardiography In Adult Patients With Congenital Heart Disease Completed NCT00412685
19 Effects of Beta-adrenergic Blocking Agents in Adult Patients With Transposition of the Great Arteries on Systemic Ventricular Function Completed NCT00313352
20 Oxygen Consumption-based Assessments of Hemodynamics in Neonates Following Congenital Heart Surgery (Oxy-CAHN Study) Completed NCT02184169
21 A Retrospective Comparison of the Efficacy and Safety of Celsior® in Pediatric Cardiac Surgery for Transposition of the Great Vessels Recruiting NCT04616222 CELSIOR® group;Saint-Thomas group
22 Fibrosis, Valvular and Ventricular Function in Patients With Transposition of the Great Arteries Recruiting NCT02588989
23 Comprehensive Long-term Follow up of Adults With Arterial Switch Operation - European Collaboration for Prospective Outcome Research in Congenital Heart Disease Recruiting NCT04335448
24 Transposition of the Great Arteries: Prenatal Anatomical and Hemodynamic Findings Associated With Perinatal Outcomes Recruiting NCT03771534 Oxygen gas
25 The Boston Circulatory Arrest Study: Antecedents and Correlates of Well-Being in Adults With Congenital Heart Disease Recruiting NCT03073122
26 Sudden Cardiac Death in Congenital Heart Diseases With a Systemic Right Ventricle Recruiting NCT03833843
27 Targeting Normoxia in Neonates With Cyanotic Congenital Heart Disease in the Intra-operative and Immediate Post-operative Period (T-NOX) Recruiting NCT04452188
28 Do Cerebral and Renal Saturations Measured With Near-infrared Spectroscopy Correlate With Echocardiographic Markers of Perfusion and Cardiac Performance in Congenital Heart Disease? Recruiting NCT04106479
29 Haemodynamics and Function of the Atria in Patients With Congenital Heart Defects - Pilot Study by Cardiovascular Magnetic Resonance Active, not recruiting NCT02161471
30 The GECHO Trial: Genetic Determinants of Congenital Heart Disease Outcomes Active, not recruiting NCT01656941
31 The Canadian Registry for Adults With Congenital Heart Disease Interventions Not yet recruiting NCT04288596
32 Clinical Impact of Rapid Prototyping 3D Models of Congenital Heart Disease on Surgical Management Withdrawn NCT04788082
33 Initiation of Resuscitation While Attached to the Cord With Congenital Heart Disease - INSPIRE-CHD Withdrawn NCT03690245

Search NIH Clinical Center for Transposition of the Great Arteries, Dextro-Looped 1

Cochrane evidence based reviews: transposition of great vessels

Genetic Tests for Transposition of the Great Arteries, Dextro-Looped 1

Genetic tests related to Transposition of the Great Arteries, Dextro-Looped 1:

# Genetic test Affiliating Genes
1 Transposition of the Great Arteries, Dextro-Looped 1 29 MED13L

Anatomical Context for Transposition of the Great Arteries, Dextro-Looped 1

MalaCards organs/tissues related to Transposition of the Great Arteries, Dextro-Looped 1:

40
Brain, Heart, Endothelial

Publications for Transposition of the Great Arteries, Dextro-Looped 1

Articles related to Transposition of the Great Arteries, Dextro-Looped 1:

(show top 50) (show all 310)
# Title Authors PMID Year
1
Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries). 57 6
14638541 2003
2
Occurrence of cardiac malformations in relatives of children with transposition of the great arteries. 61 57
8957507 1996
3
De novo genic mutations among a Chinese autism spectrum disorder cohort. 6
27824329 2016
4
Further confirmation of the MED13L haploinsufficiency syndrome. 6
24781760 2015
5
Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. 6
23403903 2013
6
CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. 57
11799476 2002
7
Elective Non-Urgent Balloon-Atrial Septostomy in Infants with d-Transposition of the Great Arteries Does Not Eliminate the Need for PGE1 Therapy at the Time of Arterial Switch Operation. 61
33492430 2021
8
Multimodality Imaging of Transposition of the Great Arteries. 61
33481689 2021
9
Assessment of ventricular flow dynamics by 4D-flow MRI in patients following surgical repair of d-transposition of the great arteries. 61
33783570 2021
10
Fetal Umbilical Arterial Pulsatility Correlates With 2-Year Growth and Neurodevelopmental Outcomes in Congenital Heart Disease. 61
32653583 2021
11
Monthly variation in univentricular heart and transposition of the great arteries - 10-year national population-based cohort study. 61
33567397 2021
12
Management considerations in the adult with surgically modified d-transposition of the great arteries. 61
33741578 2021
13
Early Experience With Pulmonary Root Translocation in Transposition of the Great Arteries With Left Ventricular Outflow Tract Obstruction. 61
33684000 2021
14
Preoperative Anemia and Outcomes After Corrective Surgery in Neonates With Dextro-Transposition of the Great Arteries. 61
33745834 2021
15
Gene-environment interactions between air pollution and biotransformation enzymes and risk of birth defects. 61
33569925 2021
16
Hypothermia for cardiogenic encephalopathy in neonates with dextro-transposition of the great arteries. 61
33221903 2021
17
Unfavorable postnatal outcome with significant dilation of the fetal main pulmonary artery near term. 61
33094922 2021
18
Performance on the ROCF at 8 Years Predicts Academic Achievement at 16 Years in Individuals with Dextro-Transposition of the Great Arteries. 61
33441211 2021
19
Diagnosis of anomalous origin of the right subclavian artery from the right pulmonary artery in a patient with D-transposition of the great arteries utilizing transthoracic echocardiography. 61
33084030 2020
20
Echocardiographic differences between D-TGA and L-TGA in adult patients. 61
33368543 2020
21
[Integrated management and prognosis analysis of fetus with complete transposition of the great arteries during pregnancy and perinatal period]. 61
33355757 2020
22
Perinatal and perioperative factors associated with mortality and an increased need for hospital care in infants with transposition of the great arteries: A nationwide 11-year population-based cohort. 61
32640036 2020
23
Predictors of neo-aortic valve regurgitation in the long term after arterial switch operation. 61
33245489 2020
24
Outcomes after corrective surgery for congenital dextro-transposition of the arteries using the arterial switch technique: a scoping systematic review. 61
33028389 2020
25
Extract-stent-replace for treatment of upper baffle stenosis with pacing leads after atrial switch procedures for transposition of the great arteries: An approach to avoid "jailing" the lead. 61
32776621 2020
26
Type C Esophageal Atresia and d-Transposition of the Great Arteries in a Newborn. 61
32853061 2020
27
Ex vivo cardiovascular magnetic resonance diffusion weighted imaging in congenital heart disease, an insight into the microstructures of tetralogy of Fallot, biventricular and univentricular systemic right ventricle. 61
32951605 2020
28
Two Brothers With Dextro-Transposition of the Great Arteries. 61
29848184 2020
29
Determinants of neurological outcome in neonates with congenital heart disease following heart surgery. 61
32711400 2020
30
Arterial Switch Operation Variables Predicting Reoperation. 61
33068508 2020
31
Mechanisms for heart failure in systemic right ventricle. 61
31853794 2020
32
Assessment and management of heart failure in the systemic right ventricle. 61
31970551 2020
33
Arterial Switch Operation With Neoaortic Valve Replacement in a 13-Year Old Patient With Transposition of Great Arteries With Ventricular Septal Defect and Left Ventricular Outflow Tract Obstruction-A Case Report. 61
30304973 2020
34
Transposition of the Great Arteries Associated With Non-Kommerell Diverticulum: Lessons From Two Cases. 61
32294011 2020
35
Paracorporeal Ventricular Assist Device Implantation in a Patient with Transposition of the Great Arteries After Senning Operation. 61
32418970 2020
36
Arterial-level repair of transposition of great arteries without coronary artery transfer. 61
32207192 2020
37
Clinical value of chromosomal microarray analysis in prenatally diagnosed dextro-transposition of the great arteries. 61
30176760 2020
38
Is Fetal Intelligent Navigation Echocardiography Helpful in Screening for d-Transposition of the Great Arteries? 61
31675129 2020
39
An exceedingly rare association of an isolated right subclavian artery with transposition of great vessels. 61
32641897 2020
40
Fetal Cerebral Vascular Response to Maternal Hyperoxia in Congenital Heart Disease: Effects of Cardiac Physiology. 61
32202689 2020
41
Longitudinal functional health status in young adults with repaired dextro-transposition of the great arteries: A Congenital Heart Surgeons' Society study. 61
31677883 2020
42
Mystery still unresolved: Untouched "Blue heart" presenting at 40yrs of age. 61
32030038 2020
43
Sacubitril/Valsartan in Adult Congenital Heart Disease Patients With Chronic Heart Failure - A Single Centre Case Series and Call for an International Registry. 61
30686641 2020
44
A Cyanotic Newborn with a Pink Right Upper Extremity. 61
32685230 2020
45
Newborn pulse oximetry screening in the context of a high antenatal detection rate of critical congenital heart disease. 61
31332832 2020
46
Late Survival and Patient-Perceived Health Status of the Congenital Heart Surgeons' Society dextro-Transposition of the Great Arteries Cohort. 61
31348901 2019
47
Predictors of Late Mortality in D-Transposition of the Great Arteries After Atrial Switch Repair: Systematic Review and Meta-Analysis. 61
31642369 2019
48
Arterial switch operation for transposition of the great arteries: A single-centre 32-year experience. 61
31508848 2019
49
Differential Myocardial Mechanics in Volume and Pressure Loaded Right Ventricles Demonstrated by Cardiac Magnetic Resonance. 61
31346663 2019
50
Factors associated with exercise capacity in patients with a systemic right ventricle. 61
31256996 2019

Variations for Transposition of the Great Arteries, Dextro-Looped 1

ClinVar genetic disease variations for Transposition of the Great Arteries, Dextro-Looped 1:

6 (show top 50) (show all 110)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MED13L NM_015335.4(MED13L):c.6068A>G (p.Asp2023Gly) SNV Pathogenic 2108 rs121918333 GRCh37: 12:116406902-116406902
GRCh38: 12:115969097-115969097
2 MED13L NM_015335.4(MED13L):c.2316_2317del (p.Met772fs) Deletion Pathogenic 567731 rs1566005476 GRCh37: 12:116444138-116444139
GRCh38: 12:116006333-116006334
3 MED13L NM_015335.4(MED13L):c.601C>T (p.Gln201Ter) SNV Pathogenic 568975 rs1029377279 GRCh37: 12:116460285-116460285
GRCh38: 12:116022480-116022480
4 MED13L NM_015335.4(MED13L):c.3519_3521delinsT (p.Tyr1174fs) Indel Pathogenic 570875 rs1565997261 GRCh37: 12:116429238-116429240
GRCh38: 12:115991433-115991435
5 MED13L NM_015335.4(MED13L):c.4077G>A (p.Trp1359Ter) SNV Pathogenic 572855 rs1565995034 GRCh37: 12:116424951-116424951
GRCh38: 12:115987146-115987146
6 MED13L NM_015335.4(MED13L):c.5502del (p.His1834fs) Deletion Pathogenic 620030 rs1565987758 GRCh37: 12:116413406-116413406
GRCh38: 12:115975601-115975601
7 MED13L NC_000012.12:g.(?_115961246)_(116096772_?)del Deletion Pathogenic 833087 GRCh37: 12:116399051-116534577
GRCh38:
8 MED13L NM_015335.4(MED13L):c.263G>A (p.Trp88Ter) SNV Pathogenic 801022 GRCh37: 12:116675320-116675320
GRCh38: 12:116237515-116237515
9 MED13L NM_015335.5(MED13L):c.712G>T (p.Glu238Ter) SNV Pathogenic 947607 GRCh37: 12:116457691-116457691
GRCh38: 12:116019886-116019886
10 MED13L NM_015335.5(MED13L):c.4289_4290delinsAA (p.Leu1430Ter) Indel Pathogenic 967001 GRCh37: 12:116424119-116424120
GRCh38: 12:115986314-115986315
11 MED13L NM_015335.5(MED13L):c.1077_1093del (p.Met359fs) Deletion Pathogenic 973240 GRCh37: 12:116452996-116453012
GRCh38: 12:116015191-116015207
12 MED13L NM_015335.5(MED13L):c.5990dup (p.Leu1997fs) Duplication Pathogenic 984811 GRCh37: 12:116408475-116408476
GRCh38: 12:115970670-115970671
13 MED13L NM_015335.4(MED13L):c.6488C>T (p.Ser2163Leu) SNV Likely pathogenic 620012 rs1565981137 GRCh37: 12:116401224-116401224
GRCh38: 12:115963419-115963419
14 MED13L NM_015335.4(MED13L):c.2579A>G (p.Asp860Gly) SNV Likely pathogenic 427897 rs1555246154 GRCh37: 12:116435026-116435026
GRCh38: 12:115997221-115997221
15 MED13L NM_015335.4(MED13L):c.1176-1G>A SNV Likely pathogenic 577695 rs1566010195 GRCh37: 12:116450707-116450707
GRCh38: 12:116012902-116012902
16 MED13L NM_015335.4(MED13L):c.3935-1G>A SNV Likely pathogenic 578927 rs1565995146 GRCh37: 12:116425094-116425094
GRCh38: 12:115987289-115987289
17 MED13L NM_015335.4(MED13L):c.3479G>A (p.Cys1160Tyr) SNV Uncertain significance 567228 rs1565997289 GRCh37: 12:116429280-116429280
GRCh38: 12:115991475-115991475
18 MED13L NM_015335.4(MED13L):c.3517G>A (p.Gly1173Ser) SNV Uncertain significance 464490 rs201987892 GRCh37: 12:116429242-116429242
GRCh38: 12:115991437-115991437
19 MED13L NM_015335.4(MED13L):c.5162C>T (p.Ser1721Phe) SNV Uncertain significance 640132 rs755513948 GRCh37: 12:116420202-116420202
GRCh38: 12:115982397-115982397
20 MED13L NM_015335.4(MED13L):c.6570dup (p.Cys2191fs) Duplication Uncertain significance 642696 rs1592888491 GRCh37: 12:116399133-116399134
GRCh38: 12:115961328-115961329
21 MED13L NM_015335.4(MED13L):c.1260A>C (p.Arg420Ser) SNV Uncertain significance 642813 rs768900677 GRCh37: 12:116450622-116450622
GRCh38: 12:116012817-116012817
22 MED13L NM_015335.4(MED13L):c.6311C>T (p.Ala2104Val) SNV Uncertain significance 643671 rs1177608611 GRCh37: 12:116403963-116403963
GRCh38: 12:115966158-115966158
23 MED13L NM_015335.4(MED13L):c.3934+3A>G SNV Uncertain significance 650618 rs747852225 GRCh37: 12:116428822-116428822
GRCh38: 12:115991017-115991017
24 MED13L NM_015335.4(MED13L):c.3788G>A (p.Arg1263Gln) SNV Uncertain significance 659195 rs374506267 GRCh37: 12:116428971-116428971
GRCh38: 12:115991166-115991166
25 MED13L NM_015335.5(MED13L):c.4988C>T (p.Thr1663Met) SNV Uncertain significance 855215 GRCh37: 12:116420376-116420376
GRCh38: 12:115982571-115982571
26 MED13L NM_015335.5(MED13L):c.603G>T (p.Gln201His) SNV Uncertain significance 835348 GRCh37: 12:116460283-116460283
GRCh38: 12:116022478-116022478
27 MED13L NM_015335.5(MED13L):c.2832T>A (p.Phe944Leu) SNV Uncertain significance 841884 GRCh37: 12:116434445-116434445
GRCh38: 12:115996640-115996640
28 MED13L NM_015335.4(MED13L):c.451G>A (p.Glu151Lys) SNV Uncertain significance 573598 rs773315749 GRCh37: 12:116534502-116534502
GRCh38: 12:116096697-116096697
29 MED13L NM_015335.4(MED13L):c.401T>C (p.Leu134Pro) SNV Uncertain significance 574719 rs1565875400 GRCh37: 12:116534552-116534552
GRCh38: 12:116096747-116096747
30 MED13L NM_015335.4(MED13L):c.1928A>G (p.Asp643Gly) SNV Uncertain significance 464487 rs1344076513 GRCh37: 12:116446290-116446290
GRCh38: 12:116008485-116008485
31 MED13L NM_015335.4(MED13L):c.3517G>A (p.Gly1173Ser) SNV Uncertain significance 464490 rs201987892 GRCh37: 12:116429242-116429242
GRCh38: 12:115991437-115991437
32 MED13L NC_000012.11:g.(?_116534454)_(116534577_?)del Deletion Uncertain significance 464484 GRCh37: 12:116534454-116534577
GRCh38:
33 MED13L NM_015335.4(MED13L):c.2488C>T (p.Arg830Cys) SNV Uncertain significance 464489 rs375719087 GRCh37: 12:116440889-116440889
GRCh38: 12:116003084-116003084
34 MED13L NM_015335.4(MED13L):c.6545A>G (p.Asn2182Ser) SNV Uncertain significance 464495 rs762926166 GRCh37: 12:116399159-116399159
GRCh38: 12:115961354-115961354
35 MED13L NM_015335.4(MED13L):c.722A>G (p.Tyr241Cys) SNV Uncertain significance 464496 rs564830776 GRCh37: 12:116457681-116457681
GRCh38: 12:116019876-116019876
36 MED13L NM_015335.4(MED13L):c.2354A>T (p.Gln785Leu) SNV Uncertain significance 464488 rs1555247342 GRCh37: 12:116443789-116443789
GRCh38: 12:116005984-116005984
37 MED13L NM_015335.4(MED13L):c.3866C>T (p.Pro1289Leu) SNV Uncertain significance 464491 rs200187663 GRCh37: 12:116428893-116428893
GRCh38: 12:115991088-115991088
38 MED13L NM_015335.4(MED13L):c.5631G>T (p.Gln1877His) SNV Uncertain significance 464494 rs1555241858 GRCh37: 12:116413076-116413076
GRCh38: 12:115975271-115975271
39 MED13L NM_015335.4(MED13L):c.752A>G (p.Glu251Gly) SNV Uncertain significance 2106 rs28940309 GRCh37: 12:116457651-116457651
GRCh38: 12:116019846-116019846
40 MED13L NM_015335.4(MED13L):c.5615G>A (p.Arg1872His) SNV Uncertain significance 2107 rs28940310 GRCh37: 12:116413092-116413092
GRCh38: 12:115975287-115975287
41 MED13L NM_015335.4(MED13L):c.4880A>G (p.Gln1627Arg) SNV Uncertain significance 410100 rs752932375 GRCh37: 12:116420997-116420997
GRCh38: 12:115983192-115983192
42 MED13L NM_015335.5(MED13L):c.2350C>T (p.Arg784Trp) SNV Uncertain significance 1003426 GRCh37: 12:116443793-116443793
GRCh38: 12:116005988-116005988
43 MED13L NM_015335.5(MED13L):c.1185A>C (p.Gln395His) SNV Uncertain significance 1003545 GRCh37: 12:116450697-116450697
GRCh38: 12:116012892-116012892
44 MED13L NM_015335.5(MED13L):c.1423A>G (p.Lys475Glu) SNV Uncertain significance 1007935 GRCh37: 12:116446795-116446795
GRCh38: 12:116008990-116008990
45 MED13L NM_015335.5(MED13L):c.2812G>A (p.Val938Ile) SNV Uncertain significance 1010663 GRCh37: 12:116434465-116434465
GRCh38: 12:115996660-115996660
46 MED13L NM_015335.5(MED13L):c.5939T>A (p.Met1980Lys) SNV Uncertain significance 852862 GRCh37: 12:116408527-116408527
GRCh38: 12:115970722-115970722
47 MED13L NM_015335.5(MED13L):c.2791-3C>T SNV Uncertain significance 854666 GRCh37: 12:116434489-116434489
GRCh38: 12:115996684-115996684
48 MED13L NM_015335.5(MED13L):c.573G>C (p.Leu191Phe) SNV Uncertain significance 936849 GRCh37: 12:116460313-116460313
GRCh38: 12:116022508-116022508
49 MED13L NM_015335.5(MED13L):c.6347C>T (p.Ser2116Leu) SNV Uncertain significance 1015642 GRCh37: 12:116403927-116403927
GRCh38: 12:115966122-115966122
50 MED13L NM_015335.5(MED13L):c.4576C>G (p.Pro1526Ala) SNV Uncertain significance 957373 GRCh37: 12:116421301-116421301
GRCh38: 12:115983496-115983496

UniProtKB/Swiss-Prot genetic disease variations for Transposition of the Great Arteries, Dextro-Looped 1:

72
# Symbol AA change Variation ID SNP ID
1 MED13L p.Glu251Gly VAR_024024 rs28940309
2 MED13L p.Arg1872His VAR_024025 rs28940310
3 MED13L p.Asp2023Gly VAR_024026 rs121918333

Expression for Transposition of the Great Arteries, Dextro-Looped 1

Search GEO for disease gene expression data for Transposition of the Great Arteries, Dextro-Looped 1.

Pathways for Transposition of the Great Arteries, Dextro-Looped 1

GO Terms for Transposition of the Great Arteries, Dextro-Looped 1

Sources for Transposition of the Great Arteries, Dextro-Looped 1

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