MSTN
myostatin
Summary
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein negatively regulates skeletal muscle cell proliferation and differentiation. Mutations in this gene are associated with increased skeletal muscle mass in humans and other mammals. [provided by RefSeq, Jul 2016]
Known Variants77 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12105165 | 2:190,920,470 | G/C | — | benign |
| rs144167726 | 2:190,920,534 | A/G | — | benign |
| rs377503267 | 2:190,920,622 | T/C | — | benign |
| rs3791782 | 2:190,920,652 | T/C | 3 prime UTR variant | benign |
| rs1253469843 | 2:190,920,668 | G/C | — | uncertain significance |
| rs1195446819 | 2:190,920,711 | G/A | — | uncertain significance |
| rs3187415 | 2:190,920,781 | C/G | — | benign |
| rs886055370 | 2:190,920,911 | C/A | — | uncertain significance |
| rs1685421811 | 2:190,920,921 | T/C | — | uncertain significance |
| rs886055371 | 2:190,921,061 | A/G | — | uncertain significance |
| rs776456900 | 2:190,921,200 | C/T | — | uncertain significance |
| rs72909336 | 2:190,921,242 | A/G | — | benign |
| rs186458339 | 2:190,921,287 | A/G | — | uncertain significance |
| rs1042335329 | 2:190,921,289 | T/G | — | uncertain significance |
| rs114597606 | 2:190,921,410 | C/T | — | likely benign |
| rs16832285 | 2:190,921,491 | C/T | — | benign |
| rs16823986 | 2:190,921,589 | T/G | — | benign |
| rs1685447206 | 2:190,921,648 | G/T | — | uncertain significance |
| rs537956645 | 2:190,921,694 | G/A | — | benign |
| rs150145410 | 2:190,921,711 | G/C | — | benign |
| rs578136956 | 2:190,921,725 | T/C | — | uncertain significance |
| rs60490864 | 2:190,921,849 | C/T | — | benign |
| rs923518162 | 2:190,921,857 | A/G | — | uncertain significance |
| rs886055372 | 2:190,921,863 | T/C | — | uncertain significance |
| rs762191502 | 2:190,921,943 | C/A | — | likely benign |
| rs141652279 | 2:190,921,944 | C/A | — | benign |
| rs772177439 | 2:190,922,000 | C/T | — | uncertain significance |
| rs16823988 | 2:190,922,001 | G/A | — | uncertain significance |
| rs2468479331 | 2:190,922,011 | C/T | — | uncertain significance |
| rs375423318 | 2:190,922,027 | C/T | — | uncertain significance |
| rs761053215 | 2:190,922,050 | A/G | — | likely benign |
| rs757027065 | 2:190,922,117 | G/C | — | uncertain significance |
| rs2468479680 | 2:190,922,196 | C/T | — | uncertain significance |
| rs773422984 | 2:190,922,215 | G/A | — | uncertain significance |
| rs1266075720 | 2:190,922,231 | C/G | — | uncertain significance |
| rs35791082 | 2:190,922,314 | C/T | — | benign |
| rs1390302339 | 2:190,922,316 | T/G | — | uncertain significance |
| rs374256136 | 2:190,922,367 | G/A | — | likely benign |
| rs138328192 | 2:190,922,492 | G/A | — | benign |
| rs7570532 | 2:190,923,412 | A/C | — | — |
| rs3791783 | 2:190,924,163 | T/C | intron variant | — |
| rs185201680 | 2:190,924,780 | T/C | — | benign |
| rs934040293 | 2:190,924,796 | C/T | — | uncertain significance |
| rs770535740 | 2:190,924,805 | G/C | — | uncertain significance |
| rs776358005 | 2:190,924,814 | A/G | — | uncertain significance |
| rs2468484539 | 2:190,924,834 | C/T | — | uncertain significance |
| rs143242500 | 2:190,924,861 | A/G | — | likely benign |
| rs2468484716 | 2:190,924,896 | T/G | — | uncertain significance |
| rs749802472 | 2:190,924,901 | A/C | — | uncertain significance |
| rs369290669 | 2:190,924,984 | G/A | — | benign |
| rs749141789 | 2:190,924,988 | C/G | — | uncertain significance |
| rs200189586 | 2:190,924,997 | T/C | — | uncertain significance |
| rs191779769 | 2:190,925,006 | T/G | — | uncertain significance |
| rs200908904 | 2:190,925,019 | T/G | — | likely benign |
| rs1685556708 | 2:190,925,022 | C/T | — | uncertain significance |
| rs183476664 | 2:190,925,039 | G/A | — | uncertain significance |
| rs35781413 | 2:190,925,045 | C/T | missense variant | likely benign |
| rs35493945 | 2:190,925,069 | G/T | — | likely benign |
| rs1805086 | 2:190,925,077 | T/C | missense variant | benign |
| rs758969290 | 2:190,925,082 | T/C | — | uncertain significance |
| rs772180319 | 2:190,925,129 | T/G | — | uncertain significance |
| rs142195885 | 2:190,925,149 | A/C | — | likely benign |
| rs2293284 | 2:190,925,245 | T/A | — | benign |
| rs10184778 | 2:190,925,291 | T/C | — | benign |
| rs397515373 | 2:190,926,945 | C/T | — | pathogenic |
| rs34191156 | 2:190,927,017 | G/A | — | benign |
| rs138343163 | 2:190,927,060 | C/T | — | conflicting classifications of pathogenicity |
| rs189330430 | 2:190,927,089 | T/C | — | uncertain significance |
| rs34094280 | 2:190,927,129 | C/T | — | likely benign |
| rs35321585 | 2:190,927,143 | G/A | — | likely benign |
| rs2468488914 | 2:190,927,159 | G/A | — | uncertain significance |
| rs1805085 | 2:190,927,160 | C/T | — | benign |
| rs745869779 | 2:190,927,173 | A/G | — | likely benign |
| rs1685625618 | 2:190,927,225 | A/G | — | uncertain significance |
| rs144348365 | 2:190,927,234 | T/G | — | uncertain significance |
| rs201887141 | 2:190,927,339 | T/G | — | benign |
| rs1685633250 | 2:190,927,421 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.