{{Rsnum
|rsid=578430
|Gene=MUSK
|Chromosome=9
|position=110800863
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=T
|GMAF=0.08953
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene_s=MUSK
}}{{ population diversity
| geno1=(G;G)
| geno2=(G;T)
| geno3=(T;T)
| CEU | 96.5 | 3.5 | 0.0
| HCB | 94.9 | 5.1 | 0.0
| JPT | 94.7 | 5.3 | 0.0
| YRI | 36.7 | 49.7 | 13.6
| ASW | 56.1 | 40.4 | 3.5
| CHB | 94.9 | 5.1 | 0.0
| CHD | 93.6 | 6.4 | 0.0
| GIH | 92.1 | 7.9 | 0.0
| LWK | 61.8 | 30.9 | 7.3
| MEX | 91.4 | 8.6 | 0.0
| MKK | 67.9 | 30.1 | 1.9
| TSI | 91.2 | 7.8 | 1.0
| HapMapRevision=28
}}

{{Venter SNP
|rsid=578430
|allele=T
|frequency=0.026
|uid=1103652159970
|type=heterozygous_SNP
|hugo=MUSK
|ensembl gene=ENSG00000030304
|ensembl transcript=ENST00000374448
|sift=TOLERATED
|disease=Defects in MUSK may be a cause of autosomal recessive congenital myasthenic syndrome (CMS). Congenital myasthenic syndromes are inherited disorders of neuromuscular transmission that stem from mutations in presynaptic, synaptic, or postsynaptic proteins. MUSK mutations lead to decreased agrin-dependent AChR aggregation, a critical step in the formation of the neuromuscular junction.
}}

{{GET Evidence
|gene=MUSK
|aa_change=Val829Leu
|aa_change_short=V829L
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs578430
|overall_frequency_n=993
|overall_frequency_d=10242
|overall_frequency=0.0969537
|n_genomes=16
|n_genomes_annotated=0
|n_haplomes=19
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy500k}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}