Gene entry
MUSK
muscle associated receptor tyrosine kinase
- Chromosome
- 9
- Cytoband
- 9q31.3
- Variants (rsID)
- 52
MUSK is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 9 (region 9q31.3). Its official name is “muscle associated receptor tyrosine kinase”. The reference table lists 52 variants (rsID) for this gene.
Clinically classified variants
16 reference-table entries with clinical significance.
- rs139945437Benignsingle nucleotide variantCongenital myasthenic syndrome 9|Fetal akinesia deformation sequence 1|Congenital myasthenic syndrome 9
- rs35142681Benignsingle nucleotide variantCongenital myasthenic syndrome 9|Fetal akinesia deformation sequence 1|Congenital myasthenic syndrome 9
- rs41279047Benignsingle nucleotide variantCongenital myasthenic syndrome 9
- rs55786136Benignsingle nucleotide variantCongenital myasthenic syndrome 9|Congenital myasthenic syndrome 9|Fetal akinesia deformation sequence 1
- rs578430Benignsingle nucleotide variantCongenital myasthenic syndrome 9|Fetal akinesia deformation sequence 1|Congenital myasthenic syndrome 9
- rs79843573Benignsingle nucleotide variantCongenital myasthenic syndrome 9|Congenital myasthenic syndrome 9|Fetal akinesia deformation sequence 1
- rs199476083Conflicting interpretationssingle nucleotide variantCongenital myasthenic syndrome 9|Congenital myasthenic syndrome 9|Fetal akinesia deformation sequence 1|Fetal akinesia deformation sequence 1
- rs200312379Conflicting interpretationssingle nucleotide variantCongenital myasthenic syndrome 9|Fetal akinesia deformation sequence 1|Congenital myasthenic syndrome 9
- rs375737188Conflicting interpretationssingle nucleotide variantCongenital myasthenic syndrome 4C|Congenital myasthenic syndrome 9|Fetal akinesia deformation sequence 1
- rs41279055Conflicting interpretationssingle nucleotide variantCongenital myasthenic syndrome 9|Congenital myasthenic syndrome 9|Fetal akinesia deformation sequence 1
- rs55980069Conflicting interpretationssingle nucleotide variantCongenital myasthenic syndrome 9|Fetal akinesia deformation sequence 1|Congenital myasthenic syndrome 9
- rs56044404Conflicting interpretationssingle nucleotide variantCongenital myasthenic syndrome 9|Fetal akinesia deformation sequence 1|Congenital myasthenic syndrome 9
- rs199811263Likely benignsingle nucleotide variantFetal akinesia deformation sequence 1|Congenital myasthenic syndrome 9
- rs751889864Likely pathogenicsingle nucleotide variantFetal akinesia deformation sequence 1|Respiratory insufficiency|Stridor|Delayed gross motor development|Bilateral ptosis
- rs200783529Pathogenicsingle nucleotide variantCongenital myasthenic syndrome 4C|Congenital myasthenic syndrome 9|Fetal akinesia deformation sequence 1
- rs188840021Uncertain significancesingle nucleotide variantCongenital myasthenic syndrome 9|Fetal akinesia deformation sequence 1|Congenital myasthenic syndrome 9
Other listed variants
- rs521803
- rs525344
- rs1170327
- rs1940251
- rs2298492
- rs2766998
- rs2846448
- rs3001125
- rs4144418
- rs4297099
- rs4401940
- rs10759469
- rs10817080
- rs10817083
- rs10980529
- rs10980530
- rs17785544
- rs34163298
- rs71501644
- rs72756526
- rs72756534
- rs72758665
- rs73655624
- rs74858554
- rs75282066
- rs76366071
- rs76475323
- rs77970534
- rs78763344
- rs80329300
- rs117056043
- rs117742180
- rs147724994
- rs184488481
- rs200450921
- rs202004848
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.