MUSK
muscle associated receptor tyrosine kinase
Summary
This gene encodes a muscle-specific tyrosine kinase receptor. The encoded protein may play a role in clustering of the acetylcholine receptor in the postsynaptic neuromuscular junction. Mutations in this gene have been associated with congenital myasthenic syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]
Known Variants680 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3001124 | 9:113,430,771 | C/G | — | benign |
| rs138941963 | 9:113,430,924 | A/G | — | likely benign |
| rs149441176 | 9:113,430,927 | G/A | — | likely benign |
| rs146290093 | 9:113,430,929 | G/A | — | likely benign |
| rs41279047 | 9:113,431,103 | C/T | — | benign |
| rs116884176 | 9:113,431,142 | G/A | — | uncertain significance |
| rs1416057660 | 9:113,431,186 | T/C | — | pathogenic |
| rs762340994 | 9:113,431,191 | G/A | — | uncertain significance |
| rs374456998 | 9:113,431,196 | C/T | — | likely benign |
| rs765874906 | 9:113,431,197 | G/A | — | uncertain significance |
| rs747203404 | 9:113,431,201 | A/G | — | uncertain significance |
| rs2075922654 | 9:113,431,204 | T/C | — | uncertain significance |
| rs752539984 | 9:113,431,214 | A/G | — | likely benign |
| rs2075922980 | 9:113,431,217 | T/C | — | likely benign |
| rs746254848 | 9:113,431,227 | C/A | — | uncertain significance |
| rs750615817 | 9:113,431,241 | C/T | — | likely benign |
| rs758427621 | 9:113,431,242 | G/A | — | uncertain significance |
| rs1466148518 | 9:113,431,247 | T/C | — | likely benign |
| rs200783529 | 9:113,431,265 | T/G | splice region variant | pathogenic |
| rs748491244 | 9:113,431,270 | T/C | — | likely benign |
| rs139516442 | 9:113,431,274 | G/A | — | conflicting classifications of pathogenicity |
| rs1345348874 | 9:113,431,277 | A/G | — | likely benign |
| rs2075923759 | 9:113,431,278 | T/C | — | likely benign |
| rs1217961337 | 9:113,431,279 | C/T | — | likely benign |
| rs368386911 | 9:113,431,280 | G/A | — | likely benign |
| rs2490471079 | 9:113,431,283 | T/C | — | likely benign |
| rs4132614 | 9:113,444,694 | A/G | — | benign |
| rs781641996 | 9:113,444,935 | A/T | — | likely benign |
| rs748616130 | 9:113,444,939 | C/A | — | likely benign |
| rs2490566365 | 9:113,444,945 | T/C | — | likely benign |
| rs199705752 | 9:113,444,946 | C/T | — | likely benign |
| rs2490566400 | 9:113,444,947 | C/A | — | likely benign |
| rs2490566494 | 9:113,444,957 | C/T | — | uncertain significance |
| rs2490566607 | 9:113,444,964 | C/T | — | likely benign |
| rs773795010 | 9:113,444,982 | A/G | — | likely benign |
| rs1412657094 | 9:113,444,986 | G/T | — | likely pathogenic |
| rs775587809 | 9:113,444,988 | T/A | — | likely pathogenic |
| rs2490566988 | 9:113,444,991 | C/T | — | likely benign |
| rs901935734 | 9:113,444,993 | T/C | — | uncertain significance |
| rs2131656584 | 9:113,445,003 | A/T | — | uncertain significance |
| rs2076148894 | 9:113,445,005 | T/C | — | uncertain significance |
| rs2490567071 | 9:113,445,006 | G/A | — | likely benign |
| rs763800237 | 9:113,445,007 | G/C | — | uncertain significance |
| rs776479773 | 9:113,445,012 | T/C | — | likely benign |
| rs996634591 | 9:113,445,015 | C/T | — | likely benign |
| rs2076149149 | 9:113,445,021 | T/C | — | likely benign |
| rs1554732832 | 9:113,445,029 | A/C | — | uncertain significance |
| rs2076149264 | 9:113,445,036 | C/T | — | likely benign |
| rs766600402 | 9:113,445,039 | C/T | — | likely benign |
| rs2490567713 | 9:113,445,048 | G/A | — | likely benign |
| rs567402281 | 9:113,445,072 | T/C | — | likely benign |
| rs2076149627 | 9:113,445,082 | T/C | — | likely pathogenic |
| rs767539226 | 9:113,445,085 | G/A | — | uncertain significance |
| rs753218110 | 9:113,445,089 | T/C | — | likely benign |
| rs371617202 | 9:113,445,090 | C/T | — | conflicting classifications of pathogenicity |
| rs2490568149 | 9:113,445,092 | A/T | — | likely benign |
| rs2076149895 | 9:113,445,100 | A/T | — | likely benign |
| rs75001517 | 9:113,445,108 | A/T | — | likely benign |
| rs114710421 | 9:113,445,141 | A/G | — | likely benign |
| rs113148487 | 9:113,445,258 | A/T | — | benign |
| rs7852446 | 9:113,445,373 | C/T | — | benign |
| rs71501642 | 9:113,449,078 | G/A | — | benign |
| rs7869057 | 9:113,449,271 | G/C | — | benign |
| rs71501643 | 9:113,449,377 | T/C | — | benign |
| rs1587896951 | 9:113,449,381 | T/C | — | likely benign |
| rs754254692 | 9:113,449,386 | G/A | — | likely benign |
| rs779359576 | 9:113,449,392 | T/C | — | benign |
| rs2490594673 | 9:113,449,396 | G/A | — | likely pathogenic |
| rs2076206381 | 9:113,449,397 | A/T | — | uncertain significance |
| rs1395831422 | 9:113,449,400 | C/A | — | likely benign |
| rs1021042074 | 9:113,449,407 | A/G | — | uncertain significance |
| rs750101214 | 9:113,449,408 | C/T | — | uncertain significance |
| rs1370203787 | 9:113,449,410 | C/T | — | uncertain significance |
| rs758118087 | 9:113,449,411 | G/A | — | uncertain significance |
| rs2490595006 | 9:113,449,412 | G/C | — | likely benign |
| rs56130155 | 9:113,449,415 | C/T | — | likely benign |
| rs768514590 | 9:113,449,418 | C/T | — | likely benign |
| rs547322569 | 9:113,449,420 | T/C | — | uncertain significance |
| rs747987063 | 9:113,449,422 | C/A | — | likely benign |
| rs776815006 | 9:113,449,423 | G/A | — | uncertain significance |
| rs2490595240 | 9:113,449,424 | G/A | — | likely benign |
| rs772926677 | 9:113,449,429 | A/G | — | uncertain significance |
| rs1203375135 | 9:113,449,430 | T/C | — | likely benign |
| rs1644805907 | 9:113,449,432 | G/C | — | uncertain significance |
| rs1587897093 | 9:113,449,433 | G/T | — | likely benign |
| rs2490595413 | 9:113,449,442 | C/G | — | likely benign |
| rs2131669584 | 9:113,449,443 | A/G | — | uncertain significance |
| rs2131669595 | 9:113,449,444 | C/T | — | uncertain significance |
| rs746157382 | 9:113,449,445 | C/T | — | likely benign |
| rs1198739112 | 9:113,449,449 | C/G | — | uncertain significance |
| rs772270944 | 9:113,449,453 | G/A | — | uncertain significance |
| rs2490595586 | 9:113,449,458 | G/T | — | likely pathogenic |
| rs922487042 | 9:113,449,466 | T/C | — | likely benign |
| rs775598630 | 9:113,449,472 | T/C | — | likely benign |
| rs760781844 | 9:113,449,486 | G/T | — | uncertain significance |
| rs35142681 | 9:113,449,489 | C/T | missense variant | benign |
| rs180928221 | 9:113,449,490 | G/A | — | conflicting classifications of pathogenicity |
| rs551423795 | 9:113,449,498 | A/G | missense variant | pathogenic |
| rs2490596156 | 9:113,449,499 | T/C | — | likely benign |
| rs56181115 | 9:113,449,502 | T/C | — | conflicting classifications of pathogenicity |
Showing 100 of 680 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.