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
Term ID:1828
Name:Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Definition:
Alternative IDs:OMIM:604377|OMIM:615119|OMIM:616500|OMIM:616501
ParentIDs:MESH:D002312|MESH:D017237|MESH:D030401
TreeNumbers:C05.651.460.620/C565784 |C10.228.140.163.540/C565784 |C10.668.491.500.500/C565784 |C14.280.238.100/C565784 |C14.280.484.150.070.160/C565784 |C16.320.565.240/C565784 |C18.452.132.540/C565784 |C18.452.660.195/C565784 |C18.452.660.560.620/C565784
Synonyms:CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1 |CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2 |CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 3 |CARDI
Slim Mappings:Cardiovascular disease|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease
Reference: MedGen: C565784
MeSH: C565784
OMIM: 604377;
MSeqDR LSDB: 00482; 00641; 00642; 00643;  
Genes: COX15; SCO2;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003577Congenital onset
3 HP:0006999Basal ganglia gliosis
4 HP:0001522Death in infancy
5 HP:0008872Feeding difficulties in infancy
6 HP:0001290Generalized hypotonia
7 HP:0001263Global developmental delay
NAMDC:  Mental retardation
8 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
9 HP:0001639Hypertrophic cardiomyopathy
NAMDC:  Hypertrophic cardomyopathy
10 HP:0002490Increased CSF lactate
11 HP:0002151Increased serum lactate
12 HP:0003128Lactic acidosis
13 HP:0007941Limited extraocular movements
14 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
15 HP:0002529Neuronal loss in central nervous system
16 HP:0002098Respiratory distress
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_005138.3(SCO2):c.776C>T (p.Ala259Val)-1NCAPH2;SCO2;TYMPBenign/Likely benignrs8139305RCV000284953|RCV000369274|RCV000383650|RCV000431453|RCV001145436; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041, Orphanet:298|MedGen:CN239235|MedGen:CN517202|MONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561225096206550962065GA22:g.50962065G>AClinGen:CA293456,UniProtKB:O43819#VAR_051912CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_005138.3(SCO2):c.763C>A (p.Arg255=)-1NCAPH2;SCO2;TYMPConflicting interpretations of pathogenicityrs112793292RCV000128017|RCV000339909|RCV000380439|RCV000676287|RCV001145437; NMedGen:CN169374|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:CN239235|MedGen:CN517202|MONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561225096207850962078GT22:g.50962078G>TClinGen:CA293453CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_005138.3(SCO2):c.738G>A (p.Ser246=)-1NCAPH2;SCO2;TYMPConflicting interpretations of pathogenicityrs200605042RCV001147379|RCV001147380|RCV001513957; NMONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:CN517202225096210350962103CT22:g.50962103C>TClinGen:CA10321125CN169374 not specified;
NM_152299.4(NCAPH2):c.*404T>G-1NCAPH2;SCO2;TYMPBenignrs12148RCV000128016|RCV000269901|RCV000300513|RCV000404245|RCV000676288|RCV001148305|RCV001807082; NMedGen:CN169374|MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041, Orphanet:298|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:CN239235|MedGen:CN517202|MONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561|MONDO:MONDO:001215225096220850962208TG22:g.50962208T>GClinGen:CA293450CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_005138.3(SCO2):c.582C>T (p.Ser194=)-1NCAPH2;SCO2;TYMPBenign/Likely benignrs131811RCV000128015|RCV000324968|RCV000336884|RCV000406575|RCV000676289|RCV001148306; NMedGen:CN169374|MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041, Orphanet:298|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:CN239235|MedGen:CN517202|MONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561225096225950962259GA22:g.50962259G>AClinGen:CA293447CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_005138.3(SCO2):c.541G>A (p.Val181Ile)-1NCAPH2;SCO2;TYMPUncertain significancers147624681RCV001149866|RCV001149867|RCV001882460; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561|MedGen:CN517202225096230050962300CT22:g.50962300C>T-
NM_005138.3(SCO2):c.535C>T (p.Arg179Cys)-1NCAPH2;SCO2;TYMPUncertain significancers780314255RCV000197926|RCV001149868|RCV001149869; NMedGen:CN517202|MONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905225096230650962306GA22:g.50962306G>AClinGen:CA322391CN517202 not provided;
NM_005138.3(SCO2):c.512G>A (p.Arg171Gln)-1NCAPH2;SCO2;TYMPUncertain significancers775173963RCV001331366|RCV001732130; NMONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561|MedGen:CN517202225096232950962329CT50962329-
NM_005138.3(SCO2):c.406A>C (p.Ile136Leu)-1NCAPH2;SCO2;TYMPUncertain significancers781539081RCV001196853|RCV001863111; NMONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561|MedGen:CN517202225096243550962435TG22:g.50962435T>G-
NM_005138.3(SCO2):c.378G>A (p.Met126Ile)-1NCAPH2;SCO2;TYMPUncertain significancers150880212RCV000197726|RCV000765657; NMedGen:CN517202|MONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561; MONDO:MONDO:0012154,MedGen:C1837148,OMIM:608908225096246350962463CT22:g.50962463C>TClinGen:CA322189CN169374 not specified;
NM_005138.3(SCO2):c.341G>A (p.Arg114His)-1NCAPH2;SCO2;TYMPConflicting interpretations of pathogenicityrs145100473RCV000043620|RCV000872109|RCV001149871|RCV001149870; NMONDO:MONDO:0012154,MedGen:C1837148,OMIM:608908|MedGen:CN517202|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561225096250050962500CT22:g.50962500C>TClinGen:CA143840,UniProtKB:O43819#VAR_070053,OMIM:604272.0009C1837148 608908 Myopia 6;
NM_005138.3(SCO2):c.327C>T (p.His109=)-1NCAPH2;SCO2;TYMPBenign/Likely benignrs75485962RCV000128014|RCV000310916|RCV000365573|RCV000370305|RCV000676290|RCV001149872; NMedGen:CN169374|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041, Orphanet:298|MedGen:CN239235|MedGen:CN517202|MONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561225096251450962514GA22:g.50962514G>AClinGen:CA293444CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_005138.3(SCO2):c.244A>G (p.Lys82Glu)-1NCAPH2;SCO2;TYMPUncertain significancers765425160RCV000272600|RCV000362533|RCV001850821; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561|MedGen:CN517202225096259750962597TC22:g.50962597T>CClinGen:CA10321254CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_005138.3(SCO2):c.237G>A (p.Arg79=)-1NCAPH2;SCO2;TYMPConflicting interpretations of pathogenicityrs150485659RCV000327533|RCV000377551|RCV001145536|RCV001145535|RCV000875350; NMedGen:CN239235|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041, Orphanet:298|MONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561|MedGen:CN517202225096260450962604CT22:g.50962604C>TClinGen:CA10321256CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_005138.3(SCO2):c.226C>T (p.Leu76=)-1NCAPH2;SCO2;TYMPUncertain significancers942543259RCV001145537|RCV001145651|RCV002032370; NMONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:CN517202225096261550962615GA22:g.50962615G>A-
NM_005138.3(SCO2):c.201C>T (p.Phe67=)-1NCAPH2;SCO2;TYMPConflicting interpretations of pathogenicityrs61748568RCV000128013|RCV000264422|RCV000324221|RCV000416073; NMedGen:CN169374|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561|MedGen:CN517202225096264050962640GA22:g.50962640G>AClinGen:CA293441CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_005138.3(SCO2):c.173G>A (p.Arg58Gln)-1NCAPH2;SCO2;TYMPUncertain significancers375383752RCV001145652|RCV001145653|RCV001858956; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561|MedGen:CN517202225096266850962668CT22:g.50962668C>T-
NM_005138.3(SCO2):c.162C>T (p.Gly54=)-1NCAPH2;SCO2;TYMPConflicting interpretations of pathogenicityrs139545104RCV000279757|RCV000378912|RCV002057811; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561|MedGen:CN517202225096267950962679GA22:g.50962679G>AClinGen:CA10321282CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_152299.4(NCAPH2):c.*978C>G-1NCAPH2;SCO2;TYMPBenignrs140523RCV000128012|RCV000271220|RCV000374348|RCV000338357|RCV000676291|RCV001148413|RCV001807081; NMedGen:CN169374|MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041, Orphanet:298|MedGen:CN239235|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:CN517202|MONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561|MONDO:MONDO:001215225096278250962782CG22:g.50962782C>GClinGen:CA293438,UniProtKB:O43819#VAR_011738CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_005138.3(SCO2):c.511C>T (p.Arg171Trp)-1NCAPH2;TYMP;SCO2Uncertain significancers28937598RCV000006034|RCV001851687; NMONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561|MedGen:CN517202225096233050962330GA22:g.50962330G>AClinGen:CA117676,UniProtKB:O43819#VAR_013238,OMIM:604272.0004C1858424 604377 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency;
NM_005138.3(SCO2):c.418G>A (p.Glu140Lys)-1NCAPH2;TYMP;SCO2Pathogenicrs74315511RCV000006035|RCV000043619|RCV000198477|RCV000626777|RCV001610286; NMONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561|MONDO:MONDO:0012154,MedGen:C1837148,OMIM:608908|MedGen:CN517202|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ont225096242350962423CT22:g.50962423C>TClinGen:CA117677,UniProtKB:O43819#VAR_008874,OMIM:604272.0002C1858424 604377 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency;
NM_005138.3(SCO2):c.738G>C (p.Ser246=)9997SCO2Conflicting interpretations of pathogenicityrs200605042RCV000285975|RCV000336339|RCV000870745; NMONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:CN517202225096210350962103CG22:g.50962103C>GClinGen:CA10321124CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_005138.3(SCO2):c.723C>T (p.Tyr241=)9997SCO2Conflicting interpretations of pathogenicityrs375345044RCV000983689|RCV001147381|RCV001147382; NMedGen:CN517202|MONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905225096211850962118GA22:g.50962118G>A-
NM_005138.3(SCO2):c.674C>T (p.Ser225Phe)9997SCO2Pathogenicrs80358232RCV000006033; NMONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561225096216750962167GA22:g.50962167G>AUniProtKB:O43819#VAR_008875,OMIM:604272.0003,ClinGen:CA117675C1858424 604377 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency;
NM_005138.3(SCO2):c.398G>A (p.Cys133Tyr)9997SCO2Pathogenicrs28937868RCV000006038; NMONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561225096244350962443CT22:g.50962443C>TClinGen:CA117681,UniProtKB:O43819#VAR_070054,OMIM:604272.0007C1858424 604377 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency;
NM_005138.3(SCO2):c.276A>G (p.Glu92=)9997SCO2Uncertain significancers886057630RCV000275865|RCV000307590; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561225096256550962565TC22:g.50962565T>CClinGen:CA10645754CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_005138.3(SCO2):c.256C>T (p.Gln86Ter)9997SCO2Pathogenicrs2069218741RCV001336784; NMONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561225096258550962585GA50962585-
NM_005138.3(SCO2):c.179_188dup (p.Ile63fs)9997SCO2Pathogenicrs1467767014RCV000006037; NMONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561225096265250962653GGATCAGCAGCCNC_000022.10:g.50962653_50962662dupOMIM:604272.0006C1858424 604377 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency;
NM_005138.3(SCO2):c.107G>A (p.Trp36Ter)9997SCO2Pathogenicrs121908508RCV000006039; NMONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561225096273450962734CT22:g.50962734C>TClinGen:CA117682,OMIM:604272.0008C1858424 604377 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency;
NM_005138.3(SCO2):c.4C>G (p.Leu2Val)9997SCO2Uncertain significancers747642461RCV000293784|RCV000348680; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561225096283750962837GC22:g.50962837G>CClinGen:CA10651520CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_005138.3(SCO2):c.2T>C (p.Met1Thr)9997SCO2Likely pathogenicrs1603441682RCV000985024; NMONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561225096283950962839AG22:g.50962839A>G-
NM_005138.3(SCO2):c.-51C>T9997SCO2Uncertain significancers886057631RCV000345077|RCV000404799; NMONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905225096393850963938GA22:g.50963938G>AClinGen:CA10653659CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_005138.3(SCO2):c.-83A>G9997SCO2Uncertain significancers886057632RCV000265362|RCV000301806; NMONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905225096397050963970TC22:g.50963970T>CClinGen:CA10645755CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_005138.3(SCO2):c.-114G>C9997SCO2Uncertain significancers554814235RCV000266519|RCV000360974; NMONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905225096400150964001CG22:g.50964001C>GClinGen:CA10651521CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_001169109.2(SCO2):c.-14+646G>C9997SCO2Conflicting interpretations of pathogenicityrs145052206RCV000263704|RCV000318947; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561225096402950964029CGNC_000022.10:g.50964029C>GClinGen:CA10654206CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_001169109.2(SCO2):c.-14+522A>G9997SCO2Benign-1RCV001543803|RCV001543804|RCV001638142; NMONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561|MONDO:MONDO:0012154,MedGen:C1837148,OMIM:608908|MedGen:CN517202225096415350964153TC50964153-
NM_005138.3(SCO2):c.268C>T (p.Arg90Ter)-1SCO2;NCAPH2;TYMPPathogenic/Likely pathogenicrs74315512RCV000006036|RCV001650831|RCV001851688; NMONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561|MONDO:MONDO:0012154,MedGen:C1837148,OMIM:608908|MedGen:CN517202225096257350962573GA22:g.50962573G>AClinGen:CA117679,OMIM:604272.0005C1858424 604377 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency;
NM_005138.3(SCO2):c.-18G>A-1SCO2;TYMPBenignrs74479613RCV000128011|RCV000321673|RCV000313637|RCV000402865|RCV001148414; NMedGen:CN169374|MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041, Orphanet:298|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:CN239235|MONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561225096390550963905CTNC_000022.10:g.50963905C>TClinGen:CA293437CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_005138.3(SCO2):c.-78G>C-1SCO2;TYMPBenignrs131806RCV000309935|RCV000364567|RCV000376198|RCV001149987|RCV001543802; NMONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MedGen:CN239235|MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041, Orphanet:298|MONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561|MONDO:MONDO:0012154,MedGen:C1837148,OMIM:608908225096396550963965CG22:g.50963965C>GClinGen:CA10653660CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_001953.5(TYMP):c.1284T>A (p.Gly428=)-1SCO2;TYMPBenignrs1138404RCV000126203|RCV000297818|RCV000360806|RCV000403230|RCV000676458|RCV001274281; NMedGen:CN169374|MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041, Orphanet:298|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905|MONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561|MedGen:CN517202|MONDO:MONDO:0017575,MedGen:CN91867225096444650964446AT22:g.50964446A>TClinGen:CA291583CN239235 Fatal Infantile Cardioencephalomyopathy;
NM_005138.3(SCO2):c.576C>T (p.Thr192=)-1SCO2;TYMP;NCAPH2Conflicting interpretations of pathogenicityrs201909075RCV000870857|RCV001148307|RCV001148308; NMedGen:CN517202|MONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905225096226550962265GA22:g.50962265G>A-
NM_005138.3(SCO2):c.157C>T (p.Gln53Ter)-1TYMP;NCAPH2;SCO2Pathogenicrs74315510RCV000006032|RCV000043618|RCV001390766; NMONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377, Orphanet:1561|MONDO:MONDO:0012154,MedGen:C1837148,OMIM:608908|MedGen:CN517202225096268450962684GA22:g.50962684G>AClinGen:CA117673,OMIM:604272.0001C1858424 604377 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency;
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000130489 MSeqDR Search EnsemblSCO21715SCO2 cytochrome c oxidase assembly protein [Source:HGNC Symbol;Acc:10604]00482

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