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Dystonia Musculorum Deformans (D004422)
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Dystonia musculorum deformans type 1 (C538005)

       Child Nodes:



 Sister Nodes: 
..expandDystonia 15, myoclonic (C538002)
..expandDystonia 6, torsion (C538003)
..expandDystonia musculorum deformans 4 (C538004)
..expandDystonia musculorum deformans type 1 (C538005)
..expandDystonia musculorum deformans type 2 (C538006)
..expandWhispering dysphonia, hereditary (C536698)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:3936
Name:Dystonia musculorum deformans type 1
Definition:
Alternative IDs:OMIM:128100
ParentIDs:MESH:D004422
TreeNumbers:C10.228.140.079.357/C538005 |C10.228.662.300.200/C538005 |C10.574.500.393/C538005 |C16.320.400.330/C538005
Synonyms:Dystonia 1, Torsion, Autosomal Dominant |Dystonia Musculorum Deformans 1 |Dyt1 |Early-Onset Generalized Torsion Dystonia |Early-Onset Primary Dystonia |Early onset torsion dystonia |Early-Onset Torsion Dystonia |EOTD |Oppenheim Dystonia |Oppenheim's Dystonia |Prim
Slim Mappings:Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C538005
MeSH: C538005
OMIM: 128100;
MSeqDR LSDB:  
Genes: TOR1A;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0002533Abnormal posturing
3 HP:0000643Blepharospasm
4 HP:0000716Depressivity
NAMDC:  Depression
5 HP:0001260Dysarthria
NAMDC:  Dysarthria
6 HP:0001290Generalized hypotonia
7 HP:0003307Hyperlordosis
8 HP:0001276Hypertonia
9 HP:0003829Incomplete penetranceHP:0040284
10 HP:0002808Kyphosis
11 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
12 HP:0002650Scoliosis
13 HP:0001304Torsion dystonia
14 HP:0000473Torticollis
15 HP:0001337Tremor
16 HP:0002356Writer's cramp
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000113.3(TOR1A):c.*1010A>G1861TOR1AUncertain significancers886063518RCV000283705; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132575241132575241TCNC_000009.11:g.132575241T>CClinGen:CA10632810C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.*1002C>T1861TOR1ABenignrs144267898RCV000347963; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132575249132575249GANC_000009.11:g.132575249G>AClinGen:CA10632508C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.*997G>A1861TOR1AUncertain significancers533151187RCV001168146; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132575254132575254CT9:g.132575254C>T-
NM_000113.3(TOR1A):c.*961T>A1861TOR1ABenignrs79201718RCV000392321; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132575290132575290ATNC_000009.11:g.132575290A>TClinGen:CA10632817C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.*948C>T1861TOR1ABenignrs148723028RCV001168147; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132575303132575303GA9:g.132575303G>A-
NM_000113.3(TOR1A):c.*934A>G1861TOR1AUncertain significancers760680759RCV000289356; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132575317132575317TCNC_000009.11:g.132575317T>CClinGen:CA10632509C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.*930T>A1861TOR1ALikely benignrs144572721RCV001168900; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132575321132575321AT9:g.132575321A>T-
NM_000113.3(TOR1A):c.*895ATT[1]1861TOR1AUncertain significancers552432262RCV000344318; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132575351132575353AAATANC_000009.11:g.132575352ATA[1]ClinGen:CA10632818C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.*879C>A1861TOR1AUncertain significancers1320561279RCV001168901; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132575372132575372GT9:g.132575372G>T-
NM_000113.3(TOR1A):c.*832G>A1861TOR1AUncertain significancers999329085RCV001168902; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132575419132575419CT9:g.132575419C>T-
NM_000113.3(TOR1A):c.*831C>T1861TOR1ABenignrs77889648RCV000404238; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132575420132575420GANC_000009.11:g.132575420G>AClinGen:CA10632510C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.*824del1861TOR1ALikely benignrs3842225RCV000314082; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132575427132575427GCGNC_000009.11:g.132575427delClinGen:CA10626566C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.*812C>G1861TOR1AUncertain significancers886063519RCV000368518; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132575439132575439GCNC_000009.11:g.132575439G>CClinGen:CA10626567C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.*785G>A1861TOR1AUncertain significancers147959623RCV000406273; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132575466132575466CTNC_000009.11:g.132575466C>TClinGen:CA10632511C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.*623C>T1861TOR1AUncertain significancers886063520RCV000301136; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132575628132575628GANC_000009.11:g.132575628G>AClinGen:CA10626568C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.*454T>A1861TOR1ABenignrs1045441RCV000355909; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132575797132575797ATNC_000009.11:g.132575797A>TClinGen:CA10632820C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.*423del1861TOR1ALikely benignrs573629050RCV000259565; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132575828132575828TATNC_000009.11:g.132575836delClinGen:CA10629117C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.*416T>G1861TOR1ABenignrs186581792RCV000360107; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132575835132575835ACNC_000009.11:g.132575835A>CClinGen:CA10626570C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.*415_*416insG1861TOR1ALikely benignrs60745320RCV000324211; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132575835132575836AACNC_000009.11:g.132575835_132575836insCClinGen:CA10626574C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.*414G>T1861TOR1ABenignrs199964594RCV000320753; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132575837132575837CANC_000009.11:g.132575837C>AClinGen:CA10632518C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.*414del1861TOR1ALikely benignrs35153737RCV000265511; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132575837132575837ACANC_000009.11:g.132575837delClinGen:CA10632523C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.*345C>T1861TOR1AUncertain significancers886063521RCV000384578; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132575906132575906GANC_000009.11:g.132575906G>AClinGen:CA10629120C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.*216C>T1861TOR1AUncertain significancers886063522RCV000290305; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132576035132576035GA9:g.132576035G>AClinGen:CA10632823C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.*214C>G1861TOR1ABenignrs1183RCV000326607|RCV001618669; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:256|MedGen:CN5172029132576037132576037GCNC_000009.11:g.132576037G>CClinGen:CA10629122C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.*201G>A1861TOR1AUncertain significancers1275657167RCV001166016; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132576050132576050CT9:g.132576050C>T-
NM_000113.3(TOR1A):c.*193G>A1861TOR1ALikely benignrs151084518RCV001166017; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132576058132576058CT9:g.132576058C>T-
NM_000113.3(TOR1A):c.*191G>T1861TOR1ABenignrs1182RCV000380689|RCV001514465|RCV001597126; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:256|Human Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421|MedGen:CN5172029132576060132576060CANC_000009.11:g.132576060C>AClinGen:CA10632524C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.*165G>A1861TOR1AUncertain significancers886063523RCV000296170; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132576086132576086CTNC_000009.11:g.132576086C>TClinGen:CA10626575C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.*165G>T1861TOR1AUncertain significancers886063523RCV001167583; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132576086132576086CA9:g.132576086C>A-
NM_000113.3(TOR1A):c.*149G>A1861TOR1AUncertain significancers886063524RCV000351047; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132576102132576102CTNC_000009.11:g.132576102C>TClinGen:CA10629125C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.*112G>C1861TOR1ALikely benignrs75881350RCV000407024; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132576139132576139CGNC_000009.11:g.132576139C>GClinGen:CA10632525C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.*108G>C1861TOR1AUncertain significancers1277544205RCV001167584; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132576143132576143CG9:g.132576143C>G-
NM_000113.3(TOR1A):c.966_983del (p.Phe323_Tyr328del)1861TOR1AUncertain significancers80358235RCV000005489|RCV000020124; YMedGen:CN300426|MONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132576267132576284ATAATCTAACTTGGTGAACA9:g.132576267_132576284delClinGen:CA117315,OMIM:605204.0002C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.962C>T (p.Thr321Met)1861TOR1AUncertain significancers1476648522RCV001167585|RCV001760117; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:256|MedGen:CN5172029132576288132576288GA9:g.132576288G>A-
NM_000113.3(TOR1A):c.934_937del (p.Arg312fs)1861TOR1AUncertain significancers80358234RCV000020123; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132576313132576316ACTCTA9:g.132576313_132576316delClinGen:CA341563C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del)1861TOR1APathogenic/Likely pathogenicrs80358233RCV000005488|RCV000412981|RCV000584141|RCV001266579; YMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:256|MedGen:CN517202|Human Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421|MeSH:D030342,MedGen:C09501239132576341132576343TCTCT9:g.132576341_132576343delClinGen:CA340352,OMIM:605204.0001C0393593 Dystonia;
NM_000113.3(TOR1A):c.863G>A (p.Arg288Gln)1861TOR1APathogenicrs727502811RCV000149874|RCV001269843; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:256|MedGen:CN5172029132576387132576387CT9:g.132576387C>TClinGen:CA273063,UniProtKB:O14656#VAR_070933,OMIM:605204.0005C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter)1861TOR1APathogenic/Likely pathogenicrs760768475RCV000677723|RCV001250912|RCV001592856; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:256|MONDO:MONDO:0100218,MedGen:C5436453,OMIM:618947|MedGen:CN5172029132576388132576388GA9:g.132576388G>AOMIM:605204.0008C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.823A>G (p.Lys275Glu)1861TOR1AConflicting interpretations of pathogenicityrs148036363RCV000861688|RCV001167586|RCV002064437; NMedGen:CN517202|MONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:256|Human Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C00134219132576427132576427TC9:g.132576427T>C-
NM_000113.3(TOR1A):c.749-11C>A1861TOR1ABenignrs72755217RCV000292494|RCV000247822|RCV001640464|RCV002057310; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:256|MedGen:CN169374|MedGen:CN517202|Human Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C00134219132576512132576512GTNC_000009.11:g.132576512G>TClinGen:CA5278541C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.748+10G>A1861TOR1ALikely benignrs764569880RCV001168213|RCV001402594; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:256|Human Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C00134219132580789132580789CT9:g.132580789C>T-
NM_000113.3(TOR1A):c.707T>C (p.Ile236Thr)1861TOR1AUncertain significancers146054409RCV001168214; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132580840132580840AG9:g.132580840A>G-
NM_000113.3(TOR1A):c.646G>C (p.Asp216His)1861TOR1ABenignrs1801968RCV000005490|RCV000020122|RCV000178043|RCV001513759|RCV001659683; N|MONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:256|MedGen:CN169374|Human Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421|MedGen:CN5172029132580901132580901CG9:g.132580901C>GClinGen:CA117318,UniProtKB:O14656#VAR_020449,OMIM:605204.0003C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.620+3A>T1861TOR1AUncertain significancers2031105353RCV001329031; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132581021132581021TA132581021-
NM_000113.3(TOR1A):c.613T>A (p.Phe205Ile)1861TOR1AConflicting interpretations of pathogenicityrs267607134RCV000296896|RCV000258917|RCV000808573|RCV000825647|RCV000005491; NMedGen:CN517202|MONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:256|Human Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421|MedGen:CN169374|MedGen:C40169209132581031132581031ATNC_000009.11:g.132581031A>TClinGen:CA117320,UniProtKB:O14656#VAR_070932,OMIM:605204.0004C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.581A>T (p.Asp194Val)1861TOR1AUncertain significancers886041099RCV000258921; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132581063132581063TANC_000009.11:g.132581063T>AClinGen:CA10602703C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.561C>T (p.Leu187=)1861TOR1ABenign/Likely benignrs115847158RCV000861871|RCV001168215|RCV001576528; NHuman Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421|MONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:256|MedGen:CN5172029132581083132581083GA9:g.132581083G>A-
NM_000113.3(TOR1A):c.488C>T (p.Ala163Val)1861TOR1ABenign/Likely benignrs142909469RCV000461812|RCV001168217; NHuman Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421|MONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132581156132581156GANC_000009.11:g.132581156G>AClinGen:CA5278635C0393593 Dystonia;
NM_000113.3(TOR1A):c.385G>A (p.Val129Ile)1861TOR1AUncertain significancers529094238RCV000258916; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132584919132584919CT9:g.132584919C>TClinGen:CA5278695C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.369T>C (p.Gly123=)1861TOR1AUncertain significancers2031213036RCV001168218; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132584935132584935AG9:g.132584935A>G-
NM_000113.3(TOR1A):c.361G>A (p.Glu121Lys)1861TOR1AConflicting interpretations of pathogenicityrs199535970RCV000258924|RCV000487817|RCV002059065; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:256|MedGen:CN517202|Human Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C00134219132584943132584943CT9:g.132584943C>TClinGen:CA5278699C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.300G>A (p.Leu100=)1861TOR1AUncertain significancers773480738RCV000407031; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132585004132585004CTNC_000009.11:g.132585004C>TClinGen:CA5278710C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.246C>T (p.Ala82=)1861TOR1ABenignrs2296793RCV000242539|RCV000298379|RCV001514466|RCV001594389; NMedGen:CN169374|MONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:256|Human Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421|MedGen:CN5172029132585058132585058GANC_000009.11:g.132585058G>AClinGen:CA5278718C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.214C>T (p.Gln72Ter)1861TOR1APathogenic-1RCV001647331; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132585090132585090GA132585090-
NM_000113.3(TOR1A):c.40_45del (p.Ala14_Pro15del)1861TOR1AUncertain significancers886041098RCV000258925; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132586320132586325ACGGCGCA9:g.132586320_132586325delClinGen:CA10602704C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.26G>C (p.Gly9Ala)1861TOR1ABenign/Likely benignrs200493208RCV000353657|RCV000477544; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:256|Human Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C00134219132586339132586339CGNC_000009.11:g.132586339C>GClinGen:CA5278770C0393593 Dystonia;
NM_000113.3(TOR1A):c.-4G>C1861TOR1AUncertain significancers769210407RCV000402592|RCV000513359; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:256|MedGen:CN5172029132586368132586368CGNC_000009.11:g.132586368C>GClinGen:CA5278779C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.-31C>A1861TOR1AUncertain significancers367933546RCV000304713; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132586395132586395GTNC_000009.11:g.132586395G>TClinGen:CA5278784C1851945 128100 Dystonia 1;
NM_000113.3(TOR1A):c.-36C>T1861TOR1ABenignrs28384433RCV000359482; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:2569132586400132586400GANC_000009.11:g.132586400G>AClinGen:CA5278786C1851945 128100 Dystonia 1;
NM_000113.2(TOR1A):c.-52T>G1861TOR1ABenign/Likely benignrs114150156RCV000264783|RCV001698509; NMONDO:MONDO:0007492,MedGen:C1851945,OMIM:128100, Orphanet:256|MedGen:CN5172029132586416132586416ACNC_000009.11:g.132586416A>CClinGen:CA5278790C1851945 128100 Dystonia 1;
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