CMS6
MCID: MYS055
MIFTS: 40

Myasthenic Syndrome, Congenital, 6, Presynaptic (CMS6)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myasthenic Syndrome, Congenital, 6, Presynaptic

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 6, Presynaptic:

Name: Myasthenic Syndrome, Congenital, 6, Presynaptic 56 73
Familial Infantile Myasthenia 12 29 6 71
Cmsea 56 12 73
Cms6 56 12 73
Myasthenic Syndrome, Congenital, Associated with Episodic Apnea 73 13
Familial Infantile Myasthenia Gravis 2 12 73
Congenital Myasthenic Syndrome 6 12 15
Fimg2 12 73
Myasthenic Syndrome, Presynaptic, Congenital, Associated with Episodic Apnea; Cmsea 56
Myasthenic Syndrome, Presynaptic, Congenital, Associated with Episodic Apnea 56
Congenital Myasthenic Syndrome Pre-Synaptic Associated with Episodic Apnea 73
Congenital Presynaptic Myasthenic Syndrome Associated with Episodic Apnea 12
Congenital Myasthenic Syndrome Type Ia2, Formerly; Cms1a2, Formerly 56
Myasthenia Gravis, Familial Infantile, 2, Formerly; Fimg2, Formerly 56
Myasthenia, Familial Infantile, Formerly; Fim, Formerly 56
Myasthenic Syndrome, Congenital, Type 6, Presynaptic 39
Myasthenia Gravis, Familial Infantile, 2, Formerly 56
Congenital Myasthenic Syndrome Type Ia2, Formerly 56
Congenital Myasthenic Syndrome 6, Presynaptic 12
Myasthenia, Familial Infantile, Formerly 56
Congenital Myasthenic Syndrome Type Ia2 12
Congenital Myasthenic Syndrome Type 1a 73
Congenital Myasthenic Syndrome Type Ia 73
Cms Ia2, Formerly 56
Cms1a2, Formerly 56
Fimg2, Formerly 56
Fim, Formerly 56
Cms Ia2 12
Cms1a2 12
Cms-Ea 73
Cms Ia 73
Cms1a 73
Fim 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth or early childhood
favorable response to acetylcholinesterase inhibitors
symptoms often improve gradually with age
genetic heterogeneity (see cms1a1, )


HPO:

31
myasthenic syndrome, congenital, 6, presynaptic:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110671
OMIM 56 254210
OMIM Phenotypic Series 56 PS601462
MeSH 43 D020294
MedGen 41 C0393929
UMLS 71 C0393929

Summaries for Myasthenic Syndrome, Congenital, 6, Presynaptic

UniProtKB/Swiss-Prot : 73 Myasthenic syndrome, congenital, 6, presynaptic: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS6 affected individuals have myasthenic symptoms since birth or early infancy, negative tests for anti-AChR antibodies, and abrupt episodic crises with increased weakness, bulbar paralysis, and apnea precipitated by undue exertion, fever, or excitement. CMS6 inheritance is autosomal recessive.

MalaCards based summary : Myasthenic Syndrome, Congenital, 6, Presynaptic, also known as familial infantile myasthenia, is related to acute cystitis and congenital myasthenic syndrome, and has symptoms including apnea, ophthalmoparesis and respiratory distress. An important gene associated with Myasthenic Syndrome, Congenital, 6, Presynaptic is CHAT (Choline O-Acetyltransferase). Affiliated tissues include testes, and related phenotypes are dysphagia and respiratory insufficiency due to muscle weakness

Disease Ontology : 12 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has material basis in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q.

OMIM : 56 Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS6 is an autosomal recessive CMS resulting from a presynaptic defect; patients have onset of symptoms in infancy or early childhood and tend to have sudden apneic episodes. Treatment with acetylcholinesterase inhibitors may be beneficial (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). (254210)

Related Diseases for Myasthenic Syndrome, Congenital, 6, Presynaptic

Diseases in the Presynaptic Congenital Myasthenic Syndromes family:

Myasthenic Syndrome, Congenital, 6, Presynaptic Myasthenic Syndrome, Congenital, 7, Presynaptic
Myasthenic Syndrome, Congenital, 20, Presynaptic Myasthenic Syndrome, Congenital, 21, Presynaptic
Myasthenic Syndrome, Congenital, 23, Presynaptic Myasthenic Syndrome, Congenital, 24, Presynaptic
Myasthenic Syndrome, Congenital, 25, Presynaptic

Diseases related to Myasthenic Syndrome, Congenital, 6, Presynaptic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 95)
# Related Disease Score Top Affiliating Genes
1 acute cystitis 29.9 UPK1A PCDH8 PAPOLG
2 congenital myasthenic syndrome 26.3 ZMYM2 UPK1A TULP1 TIAM2 TBC1D24 STRADB
3 myasthenic syndrome, congenital, 1a, slow-channel 12.0
4 congenital myasthenic syndrome with episodic apnea 11.8
5 myasthenic syndrome, congenital, 10 11.1
6 myasthenic syndrome, congenital, 5 11.1
7 myasthenic syndrome, congenital, 4a, slow-channel 11.1
8 myasthenic syndrome, congenital, 1b, fast-channel 11.1
9 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency 11.1
10 myasthenic syndrome, congenital, 12 11.1
11 myasthenic syndrome, congenital, 16 11.1
12 myasthenic syndrome, congenital, 13 11.1
13 myasthenic syndrome, congenital, 8 11.1
14 muscular dystrophy-dystroglycanopathy , type c, 14 11.1
15 myasthenic syndrome, congenital, 7, presynaptic 11.1
16 myasthenic syndrome, congenital, 15 11.1
17 myasthenic syndrome, congenital, 14 11.1
18 myasthenic syndrome, congenital, 2a, slow-channel 11.1
19 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency 11.1
20 myasthenic syndrome, congenital, 3a, slow-channel 11.1
21 myasthenic syndrome, congenital, 3b, fast-channel 11.1
22 myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency 11.1
23 myasthenic syndrome, congenital, 4b, fast-channel 11.1
24 myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 11.1
25 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 11.1
26 myasthenic syndrome, congenital, 18 11.1
27 myasthenic syndrome, congenital, 19 11.1
28 myasthenic syndrome, congenital, 20, presynaptic 11.1
29 myasthenic syndrome, congenital, 25, presynaptic 11.1
30 myoclonic epilepsy, familial infantile 10.6
31 spinal cord injury 10.5
32 quadriplegia 10.4
33 paraplegia 10.3
34 brain injury 10.3
35 traumatic brain injury 10.3
36 hemiplegia 10.3
37 myelofibrosis 10.2
38 pertussis 10.2
39 pyelonephritis 10.2
40 myeloproliferative neoplasm 10.2
41 chronic pain 10.2
42 enterobiasis 10.2 STH ANGPTL6
43 myasthenia gravis 10.1
44 atherosclerosis susceptibility 10.1
45 ovarian cancer 10.1
46 stroke, ischemic 10.1
47 low compliance bladder 10.1
48 periodontitis 10.1
49 head injury 10.1
50 amyotrophic lateral sclerosis 1 10.0

Graphical network of the top 20 diseases related to Myasthenic Syndrome, Congenital, 6, Presynaptic:



Diseases related to Myasthenic Syndrome, Congenital, 6, Presynaptic

Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 6, Presynaptic

Human phenotypes related to Myasthenic Syndrome, Congenital, 6, Presynaptic:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 dysphagia 31 HP:0002015
2 respiratory insufficiency due to muscle weakness 31 HP:0002747
3 strabismus 31 HP:0000486
4 ptosis 31 HP:0000508
5 abnormality of the immune system 31 HP:0002715
6 ophthalmoparesis 31 HP:0000597
7 arthrogryposis multiplex congenita 31 HP:0002804
8 weak cry 31 HP:0001612
9 respiratory distress 31 HP:0002098
10 poor suck 31 HP:0002033
11 fatigable weakness 31 HP:0003473
12 bulbar palsy 31 HP:0001283
13 type 2 muscle fiber atrophy 31 HP:0003554
14 sudden episodic apnea 31 HP:0002882
15 emg: decremental response of compound muscle action potential to repetitive nerve stimulation 31 HP:0003403
16 apneic episodes precipitated by illness, fatigue, stress 31 HP:0002872
17 decreased miniature endplate potentials 31 HP:0003402
18 generalized hypotonia due to defect at the neuromuscular junction 31 HP:0003397

Symptoms via clinical synopsis from OMIM:

56
Abdomen Gastrointestinal:
dysphagia
poor suck
poor feeding due to muscle weakness

Head And Neck Eyes:
strabismus
ptosis
ophthalmoparesis

Neurologic Peripheral Nervous System:
generalized hypotonia due to defect at the neuromuscular junction
bulbar muscle weakness
mild-moderate fatigable weakness of limb muscles
emg shows decremental response of compound muscle action potential (cmap) to repetitive nerve stimulation
decreased miniature endplate potentials (mepp)
more
Skeletal:
arthrogryposis multiplex in severe cases

Respiratory:
respiratory insufficiency due to muscle weakness
respiratory distress
apneic episodes precipitated by illness, fatigue, stress
sudden episodic apnea, severe, may cause death

Voice:
weak cry

Muscle Soft Tissue:
muscle biopsy shows type 2 fiber atrophy

Immunology:
absence of acetylcholine receptor (achr) autoantibodies

Clinical features from OMIM:

254210

UMLS symptoms related to Myasthenic Syndrome, Congenital, 6, Presynaptic:


apnea, ophthalmoparesis, respiratory distress

MGI Mouse Phenotypes related to Myasthenic Syndrome, Congenital, 6, Presynaptic:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.36 ANGPTL6 BRCA1 C6orf15 CHAT FLII LONP1

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 6, Presynaptic

Search Clinical Trials , NIH Clinical Center for Myasthenic Syndrome, Congenital, 6, Presynaptic

Genetic Tests for Myasthenic Syndrome, Congenital, 6, Presynaptic

Genetic tests related to Myasthenic Syndrome, Congenital, 6, Presynaptic:

# Genetic test Affiliating Genes
1 Familial Infantile Myasthenia 29 CHAT

Anatomical Context for Myasthenic Syndrome, Congenital, 6, Presynaptic

MalaCards organs/tissues related to Myasthenic Syndrome, Congenital, 6, Presynaptic:

40
Testes

Publications for Myasthenic Syndrome, Congenital, 6, Presynaptic

Articles related to Myasthenic Syndrome, Congenital, 6, Presynaptic:

(show all 26)
# Title Authors PMID Year
1
Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. 56 6
12756141 2003
2
Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. 56 6
11172068 2001
3
Familial infantile myasthenia: a neuromuscular cause of respiratory failure. 61 56
7954508 1994
4
Synaptic vesicle abnormality in familial infantile myasthenia. 56 61
3027611 1987
5
Familial infantile myasthenia gravis. Report of three cases with follow-up until adult life. 56 61
3977641 1985
6
Familial infantile myasthenia. 61 56
6243929 1980
7
Familial infantile myasthenia gravis: a cause of sudden death in young children. 61 56
1165526 1975
8
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. 56
25792100 2015
9
Congenital Myasthenic Syndromes 6
20301347 2003
10
The natural history and ophthalmic involvement in childhood myasthenia gravis at the hospital for sick children. 56
10711889 2000
11
Morphologic and immunopathologic findings in myasthenia gravis and in congenital myasthenic syndromes. 56
6249893 1980
12
Arthrogryposis multiplex congenita due to congenital myasthenia. 56
6446471 1980
13
Clinical syndromes of myasthenia in infancy and childhood. A review. 56
341864 1978
14
Familial early infantile myasthenia gravis with a 15-year follow-up. 56
5807291 1969
15
Myasthenia gravis in the newborn. 56
13851666 1960
16
External ophthalmoplegia; as part of congenital myasthenia in siblings: myasthenia gravis in children: report of a family showing congenital myasthenia. 56
13649840 1959
17
Familial early infantile myasthenia gravis. 56
13104152 1953
18
[Congenital myasthenic syndromes. Clinical and electromyographic evaluation]. 61
11792263 2002
19
Presynaptic congenital myasthenic syndrome due to quantal release deficiency. 61
11468313 2001
20
Familial infantile myasthenia: confusion in terminology. 61
10382904 1999
21
Evidence for genetic heterogeneity supports clinical differences in congenital myasthenic syndromes. 61
9813454 1998
22
Mapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) gene to chromosome 17p with evidence of genetic homogeneity. 61
9097970 1997
23
Genes at the junction--candidates for congenital myasthenic syndromes. 61
9004414 1997
24
Familial infantile myasthenia: a diagnostic problem. 61
1743419 1991
25
[Familial infantile myasthenia gravis]. 61
1937195 1991
26
Familial infantile myasthenia gravis: a preventable cause of sudden death. 61
3975717 1985

Variations for Myasthenic Syndrome, Congenital, 6, Presynaptic

ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 6, Presynaptic:

6 (show top 50) (show all 160) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CHAT NM_020549.4(CHAT):c.1642C>T (p.Arg548Ter)SNV Pathogenic 461449 rs369251527 10:50863148-50863148 10:49655102-49655102
2 CHAT NM_020549.4(CHAT):c.669del (p.Gln223fs)deletion Pathogenic 461462 rs1554802808 10:50828630-50828630 10:49620584-49620584
3 CHAT NC_000010.11:g.(?_49614170)_(49665066_?)deldeletion Pathogenic 657906 10:50822216-50873112 10:49614170-49665066
4 CHAT NM_020549.4(CHAT):c.476_477delinsAG (p.Phe159Ter)indel Pathogenic 858247 10:50827859-50827860 10:49619813-49619814
5 CHAT CHAT, 2-BP INS, 523CCinsertion Pathogenic 17505
6 CHAT NM_020549.4(CHAT):c.631C>G (p.Pro211Ala)SNV Pathogenic 17506 rs121912815 10:50828592-50828592 10:49620546-49620546
7 CHAT NM_020549.4(CHAT):c.629T>C (p.Leu210Pro)SNV Pathogenic 17511 rs121912820 10:50828590-50828590 10:49620544-49620544
8 CHAT NM_020549.4(CHAT):c.1493C>T (p.Ser498Leu)SNV Pathogenic 17512 rs121912821 10:50857664-50857664 10:49649618-49649618
9 CHAT NM_020549.4(CHAT):c.914T>C (p.Ile305Thr)SNV Pathogenic 17513 rs75466054 10:50833680-50833680 10:49625634-49625634
10 CHAT NM_020549.4(CHAT):c.1258C>T (p.Arg420Cys)SNV Pathogenic 17514 rs121912822 10:50854697-50854697 10:49646651-49646651
11 CHAT NM_020549.4(CHAT):c.1007T>C (p.Ile336Thr)SNV Pathogenic 17515 rs121912823 10:50835727-50835727 10:49627681-49627681
12 CHAT NM_020549.4(CHAT):c.1516G>T (p.Val506Leu)SNV Pathogenic 17508 rs121912817 10:50859934-50859934 10:49651888-49651888
13 CHAT NM_020549.4(CHAT):c.635T>A (p.Val212Asp)SNV Likely pathogenic 434757 rs1554802792 10:50828596-50828596 10:49620550-49620550
14 CHAT NM_020549.4(CHAT):c.1254del (p.Asn419fs)deletion Likely pathogenic 547966 rs1272947184 10:50854692-50854692 10:49646646-49646646
15 CHAT NM_020549.4(CHAT):c.665G>C (p.Arg222Pro)SNV Conflicting interpretations of pathogenicity 421843 rs8178989 10:50828626-50828626 10:49620580-49620580
16 CHAT NM_020549.4(CHAT):c.605T>G (p.Met202Arg)SNV Conflicting interpretations of pathogenicity 430062 rs376808313 10:50828566-50828566 10:49620520-49620520
17 CHAT NM_020549.4(CHAT):c.1840-9A>GSNV Conflicting interpretations of pathogenicity 432145 rs1279554995 10:50870682-50870682 10:49662636-49662636
18 CHAT NM_020984.3(CHAT):c.479_481CCT[1] (p.Ser161del)short repeat Conflicting interpretations of pathogenicity 497297 rs560648873 10:50833597-50833599 10:49625551-49625553
19 CHAT NM_020549.4(CHAT):c.909C>T (p.His303=)SNV Conflicting interpretations of pathogenicity 497741 rs76570508 10:50833675-50833675 10:49625629-49625629
20 CHAT NM_020549.4(CHAT):c.1061C>T (p.Thr354Met)SNV Conflicting interpretations of pathogenicity 523528 rs769234940 10:50835781-50835781 10:49627735-49627735
21 CHAT NM_020549.4(CHAT):c.1248C>T (p.Asn416=)SNV Conflicting interpretations of pathogenicity 198893 rs116071049 10:50854687-50854687 10:49646641-49646641
22 CHAT NM_020549.4(CHAT):c.406G>A (p.Val136Met)SNV Conflicting interpretations of pathogenicity 279754 rs201479289 10:50827789-50827789 10:49619743-49619743
23 CHAT NM_020549.4(CHAT):c.620G>A (p.Arg207His)SNV Conflicting interpretations of pathogenicity 289944 rs764497513 10:50828581-50828581 10:49620535-49620535
24 CHAT NM_020549.4(CHAT):c.2177C>T (p.Pro726Leu)SNV Conflicting interpretations of pathogenicity 373503 rs79414242 10:50873022-50873022 10:49664976-49664976
25 CHAT NM_020549.4(CHAT):c.1668C>T (p.Ser556=)SNV Uncertain significance 285107 rs55702495 10:50863174-50863174 10:49655128-49655128
26 CHAT NM_020549.4(CHAT):c.2222G>A (p.Arg741Lys)SNV Uncertain significance 287910 rs114719193 10:50873067-50873067 10:49665021-49665021
27 CHAT NM_020549.4(CHAT):c.1382T>C (p.Met461Thr)SNV Uncertain significance 417876 rs918273981 10:50856653-50856653 10:49648607-49648607
28 CHAT NM_020549.4(CHAT):c.1771G>A (p.Val591Met)SNV Uncertain significance 194108 rs201485243 10:50863277-50863277 10:49655231-49655231
29 CHAT NM_020549.4(CHAT):c.1883G>A (p.Arg628Gln)SNV Uncertain significance 194422 rs114545628 10:50870734-50870734 10:49662688-49662688
30 CHAT NM_020549.4(CHAT):c.1444A>G (p.Arg482Gly)SNV Uncertain significance 17509 rs121912818 10:50857615-50857615 10:49649569-49649569
31 CHAT NM_020549.4(CHAT):c.1679G>A (p.Arg560His)SNV Uncertain significance 17510 rs121912819 10:50863185-50863185 10:49655139-49655139
32 CHAT NM_020549.4(CHAT):c.1321G>A (p.Glu441Lys)SNV Uncertain significance 17507 rs121912816 10:50856592-50856592 10:49648546-49648546
33 CHAT NM_020549.4(CHAT):c.1769C>T (p.Ala590Val)SNV Uncertain significance 530658 rs1313042835 10:50863275-50863275 10:49655229-49655229
34 CHAT NM_020549.4(CHAT):c.1895G>A (p.Arg632Gln)SNV Uncertain significance 530660 rs758448736 10:50870746-50870746 10:49662700-49662700
35 CHAT NM_020549.4(CHAT):c.989T>C (p.Phe330Ser)SNV Uncertain significance 547967 rs1554804021 10:50835709-50835709 10:49627663-49627663
36 CHAT NM_020549.4(CHAT):c.146dup (p.Gly50fs)duplication Uncertain significance 848380 10:50822379-50822380 10:49614333-49614334
37 CHAT NM_020549.4(CHAT):c.232A>C (p.Thr78Pro)SNV Uncertain significance 850976 10:50822467-50822467 10:49614421-49614421
38 CHAT NM_020549.4(CHAT):c.238G>C (p.Glu80Gln)SNV Uncertain significance 845904 10:50822473-50822473 10:49614427-49614427
39 CHAT NM_020549.4(CHAT):c.350G>A (p.Arg117His)SNV Uncertain significance 844096 10:50824611-50824611 10:49616565-49616565
40 CHAT NM_020549.4(CHAT):c.374G>A (p.Ser125Asn)SNV Uncertain significance 857247 10:50824635-50824635 10:49616589-49616589
41 CHAT NM_020549.4(CHAT):c.484A>G (p.Ser162Gly)SNV Uncertain significance 842733 10:50827867-50827867 10:49619821-49619821
42 CHAT NM_020549.4(CHAT):c.665G>A (p.Arg222Gln)SNV Uncertain significance 843376 10:50828626-50828626 10:49620580-49620580
43 CHAT NM_020549.4(CHAT):c.693G>C (p.Gln231His)SNV Uncertain significance 835437 10:50828654-50828654 10:49620608-49620608
44 CHAT NM_020549.4(CHAT):c.719C>T (p.Ser240Phe)SNV Uncertain significance 863804 10:50830163-50830163 10:49622117-49622117
45 CHAT NM_020549.4(CHAT):c.794G>A (p.Gly265Glu)SNV Uncertain significance 843676 10:50833560-50833560 10:49625514-49625514
46 CHAT NM_020549.4(CHAT):c.973A>G (p.Ser325Gly)SNV Uncertain significance 855845 10:50835693-50835693 10:49627647-49627647
47 CHAT NM_020549.4(CHAT):c.1033G>A (p.Glu345Lys)SNV Uncertain significance 842115 10:50835753-50835753 10:49627707-49627707
48 CHAT NM_020549.4(CHAT):c.1144G>C (p.Glu382Gln)SNV Uncertain significance 847247 10:50854583-50854583 10:49646537-49646537
49 CHAT NM_020549.4(CHAT):c.1148G>A (p.Arg383His)SNV Uncertain significance 864215 10:50854587-50854587 10:49646541-49646541
50 CHAT NM_020549.4(CHAT):c.1450C>T (p.Arg484Trp)SNV Uncertain significance 848026 10:50857621-50857621 10:49649575-49649575

UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 6, Presynaptic:

73
# Symbol AA change Variation ID SNP ID
1 CHAT p.Leu210Pro VAR_011666 rs121912820
2 CHAT p.Pro211Ala VAR_011667 rs121912815
3 CHAT p.Ile305Thr VAR_011668 rs75466054
4 CHAT p.Arg420Cys VAR_011669 rs121912822
5 CHAT p.Glu441Lys VAR_011670 rs121912816
6 CHAT p.Arg482Gly VAR_011671 rs121912818
7 CHAT p.Ser498Leu VAR_011672 rs121912821
8 CHAT p.Val506Leu VAR_011673 rs121912817
9 CHAT p.Arg560His VAR_011674 rs121912819
10 CHAT p.Ile336Thr VAR_038605 rs121912823

Expression for Myasthenic Syndrome, Congenital, 6, Presynaptic

Search GEO for disease gene expression data for Myasthenic Syndrome, Congenital, 6, Presynaptic.

Pathways for Myasthenic Syndrome, Congenital, 6, Presynaptic

GO Terms for Myasthenic Syndrome, Congenital, 6, Presynaptic

Sources for Myasthenic Syndrome, Congenital, 6, Presynaptic

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
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