MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
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Mitochondrial Diseases (D028361)
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Mitochondrial Complex III Deficiency (C565128)

       Child Nodes:
........expandMITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)  LSDB  L: 00017;



 Sister Nodes: 
..expand3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)  LSDB  L: 00105;
..expandAcyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)  LSDB  L: 00419;
..expandAtaxia and Polyneuropathy, Adult-Onset (C564020)
..expandAtaxia Neuropathy Spectrum (C579922)
..expandBjornstad syndrome (C537633)  LSDB  L: 00084;
..expandCarbamoyl-Phosphate Synthase I Deficiency Disease (D020165)  LSDB  L: 00085;
..expandCarnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)  LSDB  L: 00486;
..expandCarnitine Palmitoyltransferase II Deficiency, Lethal Neonatal (C563463)  LSDB  L: 00487;
..expandChildhood Myocerebrohepatopathy Spectrum (C579990)
..expandCoenzyme Q10 Deficiency (C564403)
..expandCombined Oxidative Phosphorylation Deficiency 4 (C565690)  LSDB  L: 00098;
..expandCombined Oxidative Phosphorylation Deficiency 5 (C567126)  LSDB  L: 00099;
..expandCowden-Like Syndrome (C567337)
..expandCytochrome-c Oxidase Deficiency (D030401) Child2  LSDB C:2 L: 00012;
..expandDeoxyguanosine Kinase Deficiency (C580039)
..expandENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)  LSDB  L: 00014;
..expandENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 (OMIM:617086)  LSDB  L: 00525;
..expandFinnish lethal neonatal metabolic syndrome (C537934)  LSDB  L: 00104;
..expandFriedreich Ataxia (D005621) Child6  LSDB C:1
..expandHypermetabolism due to Defect in Mitochondria (C565498)
..expandHypomyelination, Global Cerebral (C567847)  LSDB  L: 00107;
..expandHypotonia-Cystinuria Syndrome (C564710)  LSDB  L: 00416;
..expandKearns-Sayre Syndrome (D007625) Child1  LSDB  L: 00143;
..expandLeigh Disease (D007888) Child12  LSDB C:3 L: 00015;
..expandLeukodystrophy, Hypomyelinating, 4 (C567390)  LSDB  L: 00421;
..expandLeukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009)  LSDB  L: 00418;
..expandLIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
..expandMedium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
..expandMitochondrial complex I deficiency (C537475)  LSDB  L: 00011;
..expandMitochondrial Complex II Deficiency (C565375)  LSDB  L: 00016;
..expandMitochondrial Complex III Deficiency (C565128)  LSDB  L: 00018; 00019; 00020; 00021; 00022; 00507; 00508; 00528;
..expandMITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)  LSDB  L: 00023;
..expandMITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)  LSDB  L: 00024;
..expandMITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 (OMIM:614053)  LSDB  L: 00025;
..expandMITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615228)  LSDB  L: 00010;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)  LSDB  L: 00031;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)  LSDB  L: 00032;
..expandMitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..expandMitochondrial Myopathies (D017240) Child33  LSDB C:22 L: 00400;
..expandMitochondrial Phosphate Carrier Deficiency (C563665)  LSDB  L: 00040;
..expandMITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)  LSDB  L: 00041;
..expandMultiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) Child1  LSDB  L: 00439;
..expandMultiple Mitochondrial Dysfunctions Syndrome (C565304)  LSDB  L: 00013; 00043; 00530;
..expandMyopathy with Giant Abnormal Mitochondria (C564971)
..expandMyopathy, Cataract, Hypogonadism Syndrome (C563578)
..expandNavajo neurohepatopathy (C538344) Child1  LSDB C:1 L: 00035;
..expandNoninsulin-dependent diabetes mellitus with deafness (C536246)
..expandOphthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..expandOptic Atrophy, Autosomal Dominant (D029241)  LSDB  L: 00073;
..expandOptic Atrophy, Hereditary, Leber (D029242) Child1  LSDB  L: 00072; 00492;
..expandParkinson Disease, Mitochondrial (C564015)  LSDB  L: 00170;
..expandPhosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (C564890)
..expandProgressive External Ophthalmoplegia With Hypogonadism (C563576)
..expandProgressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575)  LSDB  L: 00117;
..expandProgressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 (C567768)  LSDB  L: 00049;
..expandProximal Myopathy with Focal Depletion of Mitochondria (C563453)
..expandPyruvate Carboxylase Deficiency Disease (D015324) Child1  LSDB  L: 00398;
..expandPyruvate Dehydrogenase Complex Deficiency Disease (D015325) Child4  LSDB C:3 L: 00442;
..expandSarcosinemia (C537236)
..expandSpinocerebellar Ataxia with Epilepsy (C564395)
..expandSuccinate-Coa Ligase Deficiency (C580473)
..expandVDAC Deficiency (C565767)
..expandVLCAD deficiency (C536353)  LSDB  L: 00436;
..expandWolfram Syndrome 2 (C565733)  LSDB  L: 00490;
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:8084
Name:Mitochondrial Complex III Deficiency
Definition:
Alternative IDs:OMIM:615157|OMIM:615158|OMIM:615159|OMIM:615160|OMIM:615453|OMIM:615824|OMIM:615838|OMIM:616111
ParentIDs:MESH:D028361
TreeNumbers:C18.452.660/C565128
Synonyms:MC3DN2 |MC3DN3 |MC3DN4 |MC3DN5 |MC3DN6 |MC3DN7 |MC3DN8 |MC3DN9 |MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 |MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3 |MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 |MITOCHONDRIAL COMPLEX III DEFICIENCY, N
Slim Mappings:Metabolic disease
Reference: MedGen: C565128
MeSH: C565128
OMIM: 615157;
MSeqDR LSDB: 00018; 00019; 00020; 00021; 00022; 00507; 00508; 00528;  
Genes: CYC1; LYRM7; TTC19; UQCC2; UQCC3; UQCRB; UQCRC2; UQCRQ;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000718Aggressive behavior
3 HP:0000739Anxiety
NAMDC:  Anxiety
4 HP:0002186Apraxia
5 HP:0040078Axonal degeneration
6 HP:0003487Babinski signHP:0040283
7 HP:0002067Bradykinesia
8 HP:0001272Cerebellar atrophy
9 HP:0002059Cerebral atrophy
10 HP:0100543Cognitive impairment
NAMDC:  Cognitive delay
11 HP:0000716Depressivity
NAMDC:  Depression
12 HP:0001260Dysarthria
NAMDC:  Dysarthria
13 HP:0002075Dysdiadochokinesis
14 HP:0001310Dysmetria
15 HP:0001618Dysphonia
16 HP:0001332Dystonia
NAMDC:  Dystonia
17 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
HP:0040283
18 HP:0001263Global developmental delay
NAMDC:  Mental retardation
HP:0040283
19 HP:0000738Hallucinations
20 HP:0000365Hearing impairmentHP:0040283
21 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
HP:0040283
22 HP:0002311Incoordination
23 HP:0001324Muscle weakness
NAMDC:  Muscle weakness: diffuse
24 HP:0002180Neurodegeneration
25 HP:0000639Nystagmus
26 HP:0000722Obsessive-compulsive behavior
27 HP:0002542Olivopontocerebellar atrophy
28 HP:0003812Phenotypic variability
29 HP:0000709Psychosis
30 HP:0003202Skeletal muscle atrophy
31 HP:0002313Spastic paraparesis
32 HP:0001337Tremor
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_017775.4(TTC19):c.-15G>A54902TTC19Benignrs73276080RCV000173457|RCV000360489; NMedGen:CN169374|MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171590314815903148GA17:g.15903148G>AClinGen:CA302703C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.-1C>T54902TTC19Conflicting interpretations of pathogenicityrs2302414RCV000125734|RCV001126712; NMedGen:CN169374|MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171590316215903162CT17:g.15903162C>TClinGen:CA291431CN169374 not specified;
NM_017775.4(TTC19):c.25C>T (p.Leu9=)54902TTC19Conflicting interpretations of pathogenicityrs568088809RCV000270549|RCV000977308; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157|MedGen:CN517202171590318715903187CT17:g.15903187C>TClinGen:CA10649539C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.122A>G (p.Gln41Arg)54902TTC19Conflicting interpretations of pathogenicityrs1462593526RCV000610053|RCV001126713; NMedGen:CN169374|MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171590328415903284AG17:g.15903284A>GClinGen:CA398382480CN169374 not specified;
NM_017775.4(TTC19):c.146C>T (p.Pro49Leu)54902TTC19Conflicting interpretations of pathogenicityrs537063695RCV000325478|RCV000440126|RCV000676981; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157|MedGen:CN169374|MedGen:CN517202171590330815903308CT17:g.15903308C>TClinGen:CA8407243C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.155G>A (p.Arg52Gln)54902TTC19Uncertain significancers886052626RCV000366218; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171590331715903317GA17:g.15903317G>AClinGen:CA10649540C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.270C>G (p.Asp90Glu)54902TTC19Uncertain significancers757875189RCV000274987; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171590351715903517CG17:g.15903517C>GClinGen:CA8407271C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.304C>G (p.Arg102Gly)54902TTC19Uncertain significance-1RCV001127114; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171590355115903551CG17:g.15903551C>G-
NM_017775.4(TTC19):c.313-4T>C54902TTC19Conflicting interpretations of pathogenicityrs374666326RCV000599808|RCV000612292; NMedGen:CN169374|MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171590522515905225TC17:g.15905225T>CClinGen:CA8407315C3554605 615157 Mitochondrial complex III deficiency, nuclear type 2;
NM_017775.4(TTC19):c.364G>A (p.Ala122Thr)54902TTC19Uncertain significancers377441281RCV000330052; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171590528015905280GA17:g.15905280G>AClinGen:CA8407320C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.371G>A (p.Arg124His)54902TTC19Uncertain significance-1RCV001127115; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171590528715905287GA17:g.15905287G>A-
NM_017775.4(TTC19):c.421T>G (p.Leu141Val)54902TTC19Uncertain significancers755530528RCV000389338; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171590533715905337TG17:g.15905337T>GClinGen:CA8407335C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.424-3C>G54902TTC19Uncertain significance-1RCV001261926; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171590610415906104CG17:g.15906104C>G-
NM_017775.4(TTC19):c.439T>C (p.Phe147Leu)54902TTC19Uncertain significancers765464563RCV000295050; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171590612215906122TC17:g.15906122T>CClinGen:CA8407381C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.517C>T (p.Gln173Ter)54902TTC19Pathogenicrs387907094RCV000024068; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171590719915907199CT17:g.15907199C>TOMIM:613814.0002,ClinGen:CA129643C3554605 615157 Mitochondrial complex III deficiency, nuclear type 2;
NM_017775.4(TTC19):c.554T>C (p.Leu185Pro)54902TTC19Pathogenicrs1187416161RCV000503700; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171590754915907549TC17:g.15907549T>CClinGen:CA398387442C3554605 615157 Mitochondrial complex III deficiency, nuclear type 2;
NM_017775.4(TTC19):c.573G>A (p.Ala191=)54902TTC19Benignrs58517927RCV000125728|RCV000317077|RCV000676982; NMedGen:CN169374|MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157|MedGen:CN517202171590756815907568GA17:g.15907568G>AClinGen:CA291427C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.581+1_581+5del54902TTC19Likely pathogenic-1RCV001095727; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171590757515907579CAGGTAC17:g.15907575_15907579del-
NM_017775.4(TTC19):c.581+4A>C54902TTC19Uncertain significance-1RCV001123071; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171590758015907580AC17:g.15907580A>C-
NM_017775.4(TTC19):c.583C>T (p.Gln195Ter)54902TTC19Pathogenic-1RCV001261925; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171590978915909789CT17:g.15909789C>T-
NM_017775.4(TTC19):c.601_604del (p.Gly201fs)54902TTC19Pathogenicrs794726691RCV000088675|RCV000201515; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157|MedGen:CN517202171590980415909807TGCTGT17:g.15909804_15909807delClinGen:CA150754,OMIM:613814.0003C3554605 615157 Mitochondrial complex III deficiency, nuclear type 2;
NM_017775.4(TTC19):c.612C>G (p.Phe204Leu)54902TTC19Uncertain significancers544027755RCV000371738; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171590981815909818CG17:g.15909818C>GClinGen:CA325037
NM_017775.4(TTC19):c.656T>G (p.Leu219Ter)54902TTC19Pathogenicrs747166010RCV000024067|RCV001267139|RCV001268690; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157|MeSH:D030342,MedGen:C0950123|MedGen:CN517202171590986215909862TG17:g.15909862T>GClinGen:CA8407477,OMIM:613814.0001C3554605 615157 Mitochondrial complex III deficiency, nuclear type 2;
NM_017775.4(TTC19):c.677-6C>T54902TTC19Uncertain significance-1RCV001123072; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171592832515928325CT17:g.15928325C>T-
NM_017775.4(TTC19):c.713T>C (p.Met238Thr)54902TTC19Uncertain significance-1RCV001123073; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171592836715928367TC17:g.15928367T>C-
NM_017775.4(TTC19):c.758C>T (p.Pro253Leu)54902TTC19Conflicting interpretations of pathogenicityrs78882347RCV000282051|RCV000425011|RCV000884890; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157|MedGen:CN169374|MedGen:CN517202171592841215928412CT17:g.15928412C>TClinGen:CA8407512C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.766G>A (p.Ala256Thr)54902TTC19Uncertain significancers1042684635RCV000660604; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171592842015928420GA17:g.15928420G>A-C3554605 615157 Mitochondrial complex III deficiency, nuclear type 2;
NM_017775.4(TTC19):c.781G>A (p.Glu261Lys)54902TTC19Uncertain significancers755952117RCV000337047; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171592843515928435GA17:g.15928435G>AClinGen:CA8407515C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.787G>T (p.Ala263Ser)54902TTC19Uncertain significancers141892030RCV000196267|RCV001123074; NMedGen:CN517202|MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171592844115928441GT17:g.15928441G>TClinGen:CA320687
NM_017775.4(TTC19):c.817G>T (p.Glu273Ter)54902TTC19Pathogenicrs1555530551RCV000503114; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171592847115928471GT17:g.15928471G>TClinGen:CA398375276
NM_017775.4(TTC19):c.820A>G (p.Arg274Gly)54902TTC19Conflicting interpretations of pathogenicityrs147111211RCV000199974|RCV001124154; NMedGen:CN517202|MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171592847415928474AG17:g.15928474A>GClinGen:CA324524CN169374 not specified;
NM_017775.4(TTC19):c.829C>T (p.Gln277Ter)54902TTC19Pathogenicrs794726692RCV000088678; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171592848315928483CT17:g.15928483C>TOMIM:613814.0006,ClinGen:CA150755C3554605 615157 Mitochondrial complex III deficiency, nuclear type 2;
NM_017775.4(TTC19):c.994+3A>T54902TTC19Uncertain significancers189614332RCV000377299; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593001915930019AT17:g.15930019A>TClinGen:CA8407568C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.998G>A (p.Arg333Gln)54902TTC19Uncertain significance-1RCV001124155; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593069115930691GA17:g.15930691G>A-
NM_017775.4(TTC19):c.1004C>T (p.Thr335Ile)54902TTC19Conflicting interpretations of pathogenicityrs78193493RCV000198085|RCV000974132|RCV001124156; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593069715930697CT17:g.15930697C>TClinGen:CA322567
NM_017775.4(TTC19):c.1038G>A (p.Lys346=)54902TTC19Uncertain significance-1RCV001124157; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593073115930731GA17:g.15930731G>A-
NM_017775.4(TTC19):c.1041A>G (p.Gln347=)54902TTC19Conflicting interpretations of pathogenicityrs77955179RCV000125727|RCV000282832|RCV000880549; NMedGen:CN169374|MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157|MedGen:CN517202171593073415930734AG17:g.15930734A>GClinGen:CA291425C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.1063A>G (p.Ile355Val)54902TTC19Uncertain significance-1RCV001124158; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593075615930756AG17:g.15930756A>G-
NM_017775.4(TTC19):c.*27G>A54902TTC19Uncertain significancers150843177RCV000396546; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593086315930863GA17:g.15930863G>AClinGen:CA8407612
NM_017775.4(TTC19):c.*46T>C54902TTC19Benignrs3744328RCV000307629; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593088215930882TC17:g.15930882T>CClinGen:CA8407614
NM_017775.4(TTC19):c.*175A>C54902TTC19Uncertain significance-1RCV001126825; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593101115931011AC17:g.15931011A>C-
NM_017775.4(TTC19):c.*195A>G54902TTC19Uncertain significance-1RCV001126826; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593103115931031AG17:g.15931031A>G-
NM_017775.4(TTC19):c.*219C>T54902TTC19Uncertain significance-1RCV001126827; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593105515931055CT17:g.15931055C>T-
NM_017775.4(TTC19):c.*220G>A54902TTC19Uncertain significance-1RCV001126828; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593105615931056GA17:g.15931056G>A-
NM_017775.4(TTC19):c.*226T>C54902TTC19Likely benign-1RCV001126829; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593106215931062TC17:g.15931062T>C-
NM_017775.4(TTC19):c.*258C>G54902TTC19Uncertain significance-1RCV001126830; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593109415931094CG17:g.15931094C>G-
NM_017775.4(TTC19):c.*297G>A54902TTC19Uncertain significancers886052628RCV000343739; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593113315931133GA17:g.15931133G>AClinGen:CA10644913
NM_017775.4(TTC19):c.*301G>A54902TTC19Uncertain significancers116946711RCV000398238; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593113715931137GA17:g.15931137G>AClinGen:CA8407652
NM_017775.4(TTC19):c.*335C>T54902TTC19Uncertain significancers117087989RCV000308810; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593117115931171CT17:g.15931171C>TClinGen:CA8407655
NM_017775.4(TTC19):c.*536C>T54902TTC19Uncertain significance-1RCV001127229; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593137215931372CT17:g.15931372C>T-
NM_017775.4(TTC19):c.*578C>T54902TTC19Uncertain significancers188915420RCV000274145; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593141415931414CT17:g.15931414C>TClinGen:CA10648618
NM_017775.4(TTC19):c.*600G>A54902TTC19Likely benignrs73981413RCV000315175; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593143615931436GA17:g.15931436G>AClinGen:CA8407668
NM_017775.4(TTC19):c.*676C>T54902TTC19Uncertain significancers886052631RCV000261054; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593151215931512CT17:g.15931512C>TClinGen:CA10638967
NM_017775.4(TTC19):c.*709T>A54902TTC19Likely benignrs11554356RCV000316310; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593154515931545TA17:g.15931545T>AClinGen:CA8407672
NM_017775.4(TTC19):c.*746C>G54902TTC19Uncertain significancers143866104RCV000375460; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593158215931582CG17:g.15931582C>GClinGen:CA8407673
NM_017775.4(TTC19):c.*753A>G54902TTC19Uncertain significancers886052632RCV000262226; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593158915931589AG17:g.15931589A>GClinGen:CA10638969
NM_017775.4(TTC19):c.*834C>T54902TTC19Uncertain significance-1RCV001123162; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593167015931670CT17:g.15931670C>T-
NM_017775.4(TTC19):c.*857G>A54902TTC19Benignrs72821769RCV000322473; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593169315931693GA17:g.15931693G>AClinGen:CA8407677
NM_017775.4(TTC19):c.*971G>A54902TTC19Likely benignrs73981414RCV000377059; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593180715931807GA17:g.15931807G>AClinGen:CA8407679
NM_017775.4(TTC19):c.*999T>C54902TTC19Uncertain significance-1RCV001123163; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593183515931835TC17:g.15931835T>C-
NM_017775.4(TTC19):c.*1003C>T54902TTC19Uncertain significance-1RCV001123164; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593183915931839CT17:g.15931839C>T-
NM_017775.4(TTC19):c.*1008G>A54902TTC19Uncertain significancers886052633RCV000287348; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593184415931844GA17:g.15931844G>AClinGen:CA10648619
NM_017775.4(TTC19):c.*1012T>C54902TTC19Benign-1RCV001123165; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593184815931848TC17:g.15931848T>C-
NM_017775.4(TTC19):c.*1099C>T54902TTC19Uncertain significancers886052634RCV000342353; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593193515931935CT17:g.15931935C>TClinGen:CA10649549
NM_017775.4(TTC19):c.*1152C>T54902TTC19Uncertain significance-1RCV001124250; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593198815931988CT17:g.15931988C>T-
NM_017775.4(TTC19):c.*1169G>A54902TTC19Uncertain significance-1RCV001124251; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593200515932005GA17:g.15932005G>A-
NM_017775.4(TTC19):c.*1194T>A54902TTC19Uncertain significancers116722822RCV000382710; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593203015932030TA17:g.15932030T>AClinGen:CA8407687
NM_017775.4(TTC19):c.*1318A>C54902TTC19Uncertain significancers886052638RCV000299403; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593215415932154AC17:g.15932154A>CClinGen:CA10648621C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.*1320A>C54902TTC19Uncertain significancers886052639RCV000358933; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593215615932156AC17:g.15932156A>CClinGen:CA10648624C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.*1321A>C54902TTC19Uncertain significancers886052640RCV000266011; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593215715932157AC17:g.15932157A>CClinGen:CA10649551C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.*1333A>G54902TTC19Uncertain significance-1RCV001124252; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593216915932169AG17:g.15932169A>G-
NM_017775.4(TTC19):c.*1464A>C54902TTC19Uncertain significance-1RCV001126921; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593230015932300AC17:g.15932300A>C-
NM_017775.4(TTC19):c.*1469G>A54902TTC19Uncertain significance-1RCV001126922; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593230515932305GA17:g.15932305G>A-
NM_017775.4(TTC19):c.*1496A>G54902TTC19Uncertain significance-1RCV001126923; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593233215932332AG17:g.15932332A>G-
NM_017775.4(TTC19):c.*1543A>G54902TTC19Likely benignrs118174899RCV000380277; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593237915932379AG17:g.15932379A>GClinGen:CA8407737C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.*1562A>G54902TTC19Uncertain significancers749875042RCV000269444; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593239815932398AG17:g.15932398A>GClinGen:CA10648632C1852372 124000 Mitochondrial complex III deficiency;
NM_017775.4(TTC19):c.*1589T>C54902TTC19Likely benign-1RCV001126924; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593242515932425TC17:g.15932425T>C-
NM_017775.4(TTC19):c.*1738T>C54902TTC19Uncertain significancers111241994RCV000326727; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593257415932574TC17:g.15932574T>CClinGen:CA8407746
NM_017775.4(TTC19):c.*1791T>C54902TTC19Benignrs9890012RCV000383682; NMONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157171593262715932627TC17:g.15932627T>CClinGen:CA8407748
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000011295 MSeqDR Search EnsemblTTC191179tetratricopeptide repeat domain 19 [Source:HGNC Symbol;Acc:26006]00018

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