MYOD1
myogenic differentiation 1
Summary
This gene encodes a nuclear protein that belongs to the basic helix-loop-helix family of transcription factors and the myogenic factors subfamily. It regulates muscle cell differentiation by inducing cell cycle arrest, a prerequisite for myogenic initiation. The protein is also involved in muscle regeneration. It activates its own transcription which may stabilize commitment to myogenesis. [provided by RefSeq, Jul 2008]
Known Variants42 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs111937819 | 11:17,741,347 | A/G | — | benign |
| rs1848617877 | 11:17,741,365 | C/A | — | uncertain significance |
| rs1245658819 | 11:17,741,392 | C/T | — | likely benign |
| rs375842019 | 11:17,741,407 | G/A | — | likely benign |
| rs976639099 | 11:17,741,445 | A/G | — | uncertain significance |
| rs201235770 | 11:17,741,451 | G/T | — | likely benign |
| rs761828232 | 11:17,741,471 | C/A | — | likely benign |
| rs147517396 | 11:17,741,517 | C/A | — | pathogenic |
| rs200110749 | 11:17,741,523 | T/A | — | uncertain significance |
| rs373565128 | 11:17,741,548 | G/A | — | likely benign |
| rs202101200 | 11:17,741,554 | A/C | — | likely benign |
| rs757423869 | 11:17,741,564 | G/A | — | uncertain significance |
| rs544592180 | 11:17,741,592 | A/G | — | likely benign |
| rs745397864 | 11:17,741,813 | G/A | — | uncertain significance |
| rs762194707 | 11:17,741,831 | G/A | — | uncertain significance |
| rs144403499 | 11:17,741,832 | A/G | — | uncertain significance |
| rs763127710 | 11:17,741,834 | G/T | — | uncertain significance |
| rs148704904 | 11:17,741,840 | C/T | — | uncertain significance |
| rs780844436 | 11:17,741,877 | C/G | — | uncertain significance |
| rs773919451 | 11:17,741,882 | C/T | — | uncertain significance |
| rs1160428216 | 11:17,741,885 | C/G | — | uncertain significance |
| rs997869046 | 11:17,741,912 | G/T | — | uncertain significance |
| rs1180300708 | 11:17,741,919 | C/T | — | uncertain significance |
| rs765066996 | 11:17,741,925 | C/T | — | uncertain significance |
| rs2133764481 | 11:17,741,936 | C/G | — | uncertain significance |
| rs141519188 | 11:17,741,968 | G/T | — | benign |
| rs199992893 | 11:17,742,453 | A/G | — | uncertain significance |
| rs746375328 | 11:17,742,460 | C/G | — | uncertain significance |
| rs768652299 | 11:17,742,515 | G/T | — | pathogenic |
| rs201759677 | 11:17,742,798 | G/C | — | benign |
| rs972426310 | 11:17,742,810 | C/G | — | uncertain significance |
| rs369966548 | 11:17,742,860 | G/A | — | benign |
| rs776651946 | 11:17,742,911 | C/T | — | likely benign |
| rs761412112 | 11:17,742,912 | G/A | — | uncertain significance |
| rs1265340915 | 11:17,742,918 | T/C | — | likely benign |
| rs1554986153 | 11:17,742,946 | C/A | — | uncertain significance |
| rs1209507873 | 11:17,742,966 | G/A | — | uncertain significance |
| rs146220306 | 11:17,742,970 | G/A | — | benign |
| rs1453495788 | 11:17,742,971 | C/A | — | uncertain significance |
| rs781344330 | 11:17,742,990 | T/A | — | uncertain significance |
| rs766103747 | 11:17,743,006 | C/A | — | uncertain significance |
| rs201495274 | 11:17,743,007 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.