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Acidosis, Lactic (D000140)
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Mitochondrial Diseases (D028361)
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MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)

       Child Nodes:



 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)  LSDB  L: 00090;
..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)
..expandFinnish lethal neonatal metabolic syndrome (C537934)  LSDB  L: 00104;
..expandFriedreich Ataxia (D005621) Child6  LSDB C:1
..expandHypermetabolism due to Defect in Mitochondria (C565498)  LSDB  L: 00406;
..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;
..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: 00017;
..expandMITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE (OMIM:604273)  LSDB  L: 00023;
..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 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)  LSDB  L: 00035;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)  LSDB  L: 00038;
..expandMitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..expandMitochondrial Myopathies (D017240) Child33  LSDB C:22 L: 00400;
..expandMitochondrial Phosphate Carrier Deficiency (C563665)  LSDB  L: 00040;
..expandMultiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) Child1  LSDB  L: 00439;
..expandMultiple Mitochondrial Dysfunctions Syndrome (C565304)  LSDB  L: 00043;
..expandMULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)  LSDB  L: 00043;
..expandMyopathy with Giant Abnormal Mitochondria (C564971)  LSDB  L: 00409;
..expandMyopathy, Cataract, Hypogonadism Syndrome (C563578)
..expandNavajo neurohepatopathy (C538344) Child1  LSDB C:1
..expandOphthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)  LSDB  L: 00410;
..expandOptic Atrophy, Autosomal Dominant (D029241)  LSDB  L: 00073;
..expandOptic Atrophy, Hereditary, Leber (D029242) Child1  LSDB  L: 00072; 00492;
..expandParkinson Disease, Mitochondrial (C564015)
..expandPhosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (C564890)  LSDB  L: 00046;
..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)  LSDB  L: 00412;
..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:7321
Name:MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)
Definition:
Alternative IDs:
ParentIDs:MESH:D000140|MESH:D028361
TreeNumbers:C18.452.076.176.180/245400 |C18.452.660/245400
Synonyms:LACTIC ACIDOSIS, FATAL INFANTILE, FORMERLY |MTDPS9
Slim Mappings:Metabolic disease
Reference: MedGen: 245400
MeSH: 245400
OMIM: 245400;
MSeqDR LSDB: 00038;  
Genes: SUCLG1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onset
3 HP:0000951Abnormality of the skin
4 HP:0001251Ataxia
5 HP:0002059Cerebral atrophy
6 HP:0001298Encephalopathy
NAMDC:  Encephalopathy (At least one neurological manifestation marked with an *)
7 HP:0001508Failure to thrive
8 HP:0011968Feeding difficulties
9 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
10 HP:0001263Global developmental delay
NAMDC:  Mental retardation
11 HP:0001510Growth delay
NAMDC:  Growth delay
12 HP:0000365Hearing impairmentrare
13 HP:0000975Hyperhidrosis
14 HP:0001943Hypoglycemia
15 HP:0002148Hypophosphatemia
16 HP:0010864Intellectual disability, severe
17 HP:0005941Intermittent hyperpnea at rest
18 HP:0003128Lactic acidosis
19 HP:0012120Methylmalonic aciduria
20 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
21 HP:0003812Phenotypic variability
22 HP:0002275Poor motor coordination
23 HP:0008335Renal aminoaciduria
24 HP:0002878Respiratory failure
25 HP:0001250Seizures
NAMDC:  Seizures
26 HP:0003202Skeletal muscle atrophy
27 HP:0002317Unsteady gait
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_003849.3(SUCLG1):c.*218A>G8802SUCLG1Uncertain significance570310549RCV000336328; RCV000394271; NMedGen:C0342782, Orphanet:ORPHA35698; MedGen:C3151476,OMIM:245400, Orphanet:ORPHA1728465065284650652-C0342782 Mitochondrial DNA depletion syndrome;
NM_003849.3(SUCLG1):c.*207A>G8802SUCLG1Likely benign73942653RCV000342280; RCV000306129; NMedGen:C0342782, Orphanet:ORPHA35698; MedGen:C3151476,OMIM:245400, Orphanet:ORPHA1728465066384650663-C0342782 Mitochondrial DNA depletion syndrome;
NM_003849.3(SUCLG1):c.*163T>C8802SUCLG1Benign2832RCV000399966; RCV000301645; NMedGen:C0342782, Orphanet:ORPHA35698; MedGen:C3151476,OMIM:245400, Orphanet:ORPHA1728465070784650707-C0342782 Mitochondrial DNA depletion syndrome;
NM_003849.3(SUCLG1):c.*55G>C8802SUCLG1Likely benign80166442RCV000365570; RCV000392413; NMedGen:C0342782, Orphanet:ORPHA35698; MedGen:C3151476,OMIM:245400, Orphanet:ORPHA1728465081584650815-C0342782 Mitochondrial DNA depletion syndrome;
NM_003849.3(SUCLG1):c.*38C>T8802SUCLG1Uncertain significance369617521RCV000362273; RCV000307621; NMedGen:C0342782, Orphanet:ORPHA35698; MedGen:C3151476,OMIM:245400, Orphanet:ORPHA1728465083284650832-C0342782 Mitochondrial DNA depletion syndrome;
NM_003849.3(SUCLG1):c.*13delA8802SUCLG1Uncertain significance527774382RCV000277101; RCV000332189; NMedGen:C0342782, Orphanet:ORPHA35698; MedGen:C3151476,OMIM:245400, Orphanet:ORPHA1728465085784650857-C0342782 Mitochondrial DNA depletion syndrome;
NM_003849.3(SUCLG1):c.1028G>C (p.Arg343Thr)8802SUCLG1Uncertain significance748995693RCV000274138; RCV000368206; NMedGen:C0342782, Orphanet:ORPHA35698; MedGen:C3151476,OMIM:245400, Orphanet:ORPHA1728465088384650883-C0342782 Mitochondrial DNA depletion syndrome;
NM_003849.3(SUCLG1):c.959G>A (p.Ser320Asn)8802SUCLG1Uncertain significance146834097RCV000319823; RCV000374449; NMedGen:C0342782, Orphanet:ORPHA35698; MedGen:C3151476,OMIM:245400, Orphanet:ORPHA1728465259484652594-C0342782 Mitochondrial DNA depletion syndrome;
NM_003849.3(SUCLG1):c.900C>T (p.Ala300=)8802SUCLG1Conflicting interpretations of pathogenicity113840224RCV000279864; RCV000316302; RCV000677031; RCV000186192; NMedGen:C0342782, Orphanet:ORPHA35698; MedGen:C3151476,OMIM:245400, Orphanet:ORPHA17; MedGen:CN517202; MedGen:CN16937428465265384652653-C0342782 Mitochondrial DNA depletion syndrome;
NM_003849.3(SUCLG1):c.721G>A (p.Glu241Lys)8802SUCLG1Uncertain significance-1RCV000702176; NMedGen:C3151476,OMIM:245400, Orphanet:ORPHA1728465873684658736-C3151476 245400 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria);
NM_003849.3(SUCLG1):c.635A>G (p.Gln212Arg)8802SUCLG1Uncertain significance-1RCV000680113; NMedGen:C3151476,OMIM:245400, Orphanet:ORPHA1728466051484660514-C3151476 245400 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria);
NM_003849.3(SUCLG1):c.590-6G>A8802SUCLG1Conflicting interpretations of pathogenicity200107730RCV000380121; RCV000285798; RCV000603149; NMedGen:C0342782, Orphanet:ORPHA35698; MedGen:C3151476,OMIM:245400, Orphanet:ORPHA17; MedGen:CN16937428466056584660565-C0342782 Mitochondrial DNA depletion syndrome;
NM_003849.3(SUCLG1):c.509C>G (p.Pro170Arg)8802SUCLG1Pathogenic267607099RCV000001041; NMedGen:C3151476,OMIM:245400, Orphanet:ORPHA1728466839384668393OMIM Allelic Variant:611224.0003,UniProtKB (protein):P53597#VAR_065121C3151476 245400 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria);
NM_003849.3(SUCLG1):c.507delG (p.Asn171Thrfs)8802SUCLG1Pathogenic797046017RCV000193104; NMedGen:C3151476,OMIM:245400, Orphanet:ORPHA1728466839584668395-C3151476 245400 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria);
NM_003849.3(SUCLG1):c.448C>T (p.Gln150Ter)8802SUCLG1Pathogenic267607098RCV000001043; NMedGen:C3151476,OMIM:245400, Orphanet:ORPHA1728466845484668454OMIM Allelic Variant:611224.0005C3151476 245400 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria);
NM_003849.3(SUCLG1):c.395C>G (p.Ala132Gly)8802SUCLG1Uncertain significance376171433RCV000339430; RCV000396763; NMedGen:C0342782, Orphanet:ORPHA35698; MedGen:C3151476,OMIM:245400, Orphanet:ORPHA1728466850784668507-C0342782 Mitochondrial DNA depletion syndrome;
NM_003849.3(SUCLG1):c.352A>G (p.Ile118Val)8802SUCLG1Uncertain significance181953896RCV000648993; NMedGen:C3151476,OMIM:245400, Orphanet:ORPHA1728466855084668550-C3151476 245400 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria);
NM_003849.3(SUCLG1):c.345T>C (p.Ala115=)8802SUCLG1Conflicting interpretations of pathogenicity374594774RCV000290324; RCV000345295; RCV000603718; NMedGen:C0342782, Orphanet:ORPHA35698; MedGen:C3151476,OMIM:245400, Orphanet:ORPHA17; MedGen:CN16937428466855784668557-C0342782 Mitochondrial DNA depletion syndrome;
NM_003849.3(SUCLG1):c.341C>T (p.Thr114Met)8802SUCLG1Uncertain significance201224138RCV000648992; RCV000186198; NMedGen:C3151476,OMIM:245400, Orphanet:ORPHA17; MedGen:CN51720228466856184668561-C3151476 245400 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria);
NM_003849.3(SUCLG1):c.338C>G (p.Ala113Gly)8802SUCLG1Uncertain significance-1RCV000687084; NMedGen:C3151476,OMIM:245400, Orphanet:ORPHA1728466856484668564-C3151476 245400 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria);
NM_003849.3(SUCLG1):c.254G>C (p.Gly85Ala)8802SUCLG1Pathogenic267607097RCV000001040; NMedGen:C3151476,OMIM:245400, Orphanet:ORPHA1728467047284670472OMIM Allelic Variant:611224.0002,UniProtKB (protein):P53597#VAR_065157C3151476 245400 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria);
NM_003849.3(SUCLG1):c.242A>G (p.Lys81Arg)8802SUCLG1Uncertain significance564792232RCV000314930; RCV000402252; NMedGen:C0342782, Orphanet:ORPHA35698; MedGen:C3151476,OMIM:245400, Orphanet:ORPHA1728467048484670484-C0342782 Mitochondrial DNA depletion syndrome;
NM_003849.3(SUCLG1):c.236G>A (p.Gly79Asp)8802SUCLG1Uncertain significance143030960RCV000369613; RCV000390394; RCV000428598; RCV000239306; NMedGen:C0342782, Orphanet:ORPHA35698; MedGen:C3151476,OMIM:245400, Orphanet:ORPHA17; MedGen:CN517202; MedGen:CN16937428467049084670490-C0342782 Mitochondrial DNA depletion syndrome;
NM_003849.3(SUCLG1):c.202-4T>C8802SUCLG1Conflicting interpretations of pathogenicity141973418RCV000310983; RCV000356495; RCV000128336; NMedGen:C0342782, Orphanet:ORPHA35698; MedGen:C3151476,OMIM:245400, Orphanet:ORPHA17; MedGen:CN16937428467052884670528-C0342782 Mitochondrial DNA depletion syndrome;
NM_003849.3(SUCLG1):c.201+9A>G8802SUCLG1Benign/Likely benign116492610RCV000316866; RCV000261668; RCV000128335; NMedGen:C0342782, Orphanet:ORPHA35698; MedGen:C3151476,OMIM:245400, Orphanet:ORPHA17; MedGen:CN16937428467676484676764-C0342782 Mitochondrial DNA depletion syndrome;
NM_003849.3(SUCLG1):c.201+8T>A8802SUCLG1Uncertain significance764185628RCV000353099; RCV000267666; NMedGen:C0342782, Orphanet:ORPHA35698; MedGen:C3151476,OMIM:245400, Orphanet:ORPHA1728467676584676765-C0342782 Mitochondrial DNA depletion syndrome;
NM_003849.3(SUCLG1):c.110G>C (p.Gly37Ala)8802SUCLG1Uncertain significance369610897RCV000322795; RCV000377493; RCV000186193; NMedGen:C0342782, Orphanet:ORPHA35698; MedGen:C3151476,OMIM:245400, Orphanet:ORPHA17; MedGen:CN51720228467686484676864UniProtKB (protein):P53597#VAR_076432C0342782 Mitochondrial DNA depletion syndrome;
NM_003849.3(SUCLG1):c.101C>T (p.Pro34Leu)8802SUCLG1Uncertain significance149809280RCV000283566; RCV000329205; NMedGen:C0342782, Orphanet:ORPHA35698; MedGen:C3151476,OMIM:245400, Orphanet:ORPHA1728467687384676873-C0342782 Mitochondrial DNA depletion syndrome;
NM_003849.3(SUCLG1):c.98-10_98-8delAAC8802SUCLG1Uncertain significance886056350RCV000289373; RCV000383777; NMedGen:C0342782, Orphanet:ORPHA35698; MedGen:C3151476,OMIM:245400, Orphanet:ORPHA1728467688484676886-C0342782 Mitochondrial DNA depletion syndrome;
NM_003849.3(SUCLG1):c.98-13_98-11delTTT8802SUCLG1Benign56733272RCV000344267; RCV000395869; RCV000677032; RCV000603571; NMedGen:C0342782, Orphanet:ORPHA35698; MedGen:C3151476,OMIM:245400, Orphanet:ORPHA17; MedGen:CN517202; MedGen:CN16937428467688784676889-C0342782 Mitochondrial DNA depletion syndrome;
NM_003849.3(SUCLG1):c.98-15_98-14insAACC8802SUCLG1Uncertain significance886056352RCV000350089; RCV000295211; NMedGen:C0342782, Orphanet:ORPHA35698; MedGen:C3151476,OMIM:245400, Orphanet:ORPHA1728467689084676891-C0342782 Mitochondrial DNA depletion syndrome;
NM_003849.3(SUCLG1):c.97+3G>C8802SUCLG1Pathogenic786205871RCV000001042; NMedGen:C3151476,OMIM:245400, Orphanet:ORPHA1728468629484686294OMIM Allelic Variant:611224.0004C3151476 245400 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria);
NM_003849.3(SUCLG1):c.40A>T (p.Met14Leu)8802SUCLG1Pathogenic-1RCV000680168; NMedGen:C3151476,OMIM:245400, Orphanet:ORPHA1728468635484686354-C3151476 245400 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria);
NM_003849.3(SUCLG1):c.11C>T (p.Thr4Ile)8802SUCLG1Uncertain significance766814700RCV000648991; NMedGen:C3151476,OMIM:245400, Orphanet:ORPHA1728468638384686383-C3151476 245400 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria);
NM_003849.3(SUCLG1):c.-39C>A8802SUCLG1Uncertain significance144946502RCV000337713; RCV000398579; NMedGen:C0342782, Orphanet:ORPHA35698; MedGen:C3151476,OMIM:245400, Orphanet:ORPHA1728468643284686432-C0342782 Mitochondrial DNA depletion syndrome;
NM_003849.3(SUCLG1):c.-39C>G8802SUCLG1Conflicting interpretations of pathogenicity144946502RCV000399480; RCV000301450; RCV000444263; NMedGen:C0342782, Orphanet:ORPHA35698; MedGen:C3151476,OMIM:245400, Orphanet:ORPHA17; MedGen:CN16937428468643284686432-C0342782 Mitochondrial DNA depletion syndrome;
NM_003849.3(SUCLG1):c.-71G>T8802SUCLG1Uncertain significance886056353RCV000362041; RCV000298009; NMedGen:C0342782, Orphanet:ORPHA35698; MedGen:C3151476,OMIM:245400, Orphanet:ORPHA1728468646484686464-C0342782 Mitochondrial DNA depletion syndrome;
NM_003849.3(SUCLG1):c.-107A>G8802SUCLG1Uncertain significance140936198RCV000267322; RCV000303784; NMedGen:C0342782, Orphanet:ORPHA35698; MedGen:C3151476,OMIM:245400, Orphanet:ORPHA1728468650084686500-C0342782 Mitochondrial DNA depletion syndrome;
NM_003849.3(SUCLG1):c.-133C>T8802SUCLG1Likely benign12621740RCV000365662; RCV000271000; NMedGen:C0342782, Orphanet:ORPHA35698; MedGen:C3151476,OMIM:245400, Orphanet:ORPHA1728468652684686526-C0342782 Mitochondrial DNA depletion syndrome;
NM_003849.3(SUCLG1):c.-150T>A8802SUCLG1Uncertain significance886056354RCV000380749; RCV000326171; NMedGen:C0342782, Orphanet:ORPHA35698; MedGen:C3151476,OMIM:245400, Orphanet:ORPHA1728468654384686543-C0342782 Mitochondrial DNA depletion syndrome;
NM_003849.3(SUCLG1):c.-186G>A8802SUCLG1Uncertain significance143151382RCV000332098; RCV000277014; NMedGen:C0342782, Orphanet:ORPHA35698; MedGen:C3151476,OMIM:245400, Orphanet:ORPHA1728468657984686579-C0342782 Mitochondrial DNA depletion syndrome;
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000163541 MSeqDR Search EnsemblSUCLG11341succinate-CoA ligase, alpha subunit [Source:HGNC Symbol;Acc:11449]00038

*Click on gene and variants to check details. Or view all variants in new page