{{Rsnum
|rsid=35142681
|Gene=MUSK
|Chromosome=9
|position=110687209
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.01331
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=MUSK
}}{{Venter SNP
|rsid=35142681
|allele=T
|frequency=
|uid=1103652159799
|type=heterozygous_SNP
|hugo=MUSK
|ensembl gene=ENSG00000030304
|ensembl transcript=ENST00000374448
|sift=
|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=Thr100Met
|aa_change_short=T100M
|impact=benign
|qualified_impact=Low clinical importance, Uncertain benign
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs35142681
|overall_frequency_n=239
|overall_frequency_d=10208
|overall_frequency=0.023413
|n_genomes=2
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=0
|qualitycomment_in_silico=Y
|qualityscore_case_control=4
|qualitycomment_case_control=Y
|gene_in_genetests=Y
|pph2_score=0.488
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=2
|autoscore=4
|webscore=Y
|variant_evidence=0
|clinical_importance=0
|summary_short=Probably benign.
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}