MEST
mesoderm specific transcript
Summary
This gene encodes a member of the alpha/beta hydrolase superfamily. It is imprinted, exhibiting preferential expression from the paternal allele in fetal tissues, and isoform-specific imprinting in lymphocytes. The loss of imprinting of this gene has been linked to certain types of cancer and may be due to promotor switching. The encoded protein may play a role in development. Alternatively spliced transcript variants encoding multiple isoforms have been identified for this gene. Pseudogenes of this gene are located on the short arm of chromosomes 3 and 4, and the long arm of chromosomes 6 and 15. [provided by RefSeq, Dec 2011]
Known Variants17 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1990786 | 7:130,125,501 | T/A | — | — |
| rs1799007787 | 7:130,135,214 | G/A | — | uncertain significance |
| rs2485273690 | 7:130,135,264 | T/C | — | uncertain significance |
| rs147421229 | 7:130,135,348 | C/G | — | uncertain significance |
| rs41272366 | 7:130,136,065 | T/A | coding sequence variant | — |
| rs528300868 | 7:130,137,796 | T/G | — | uncertain significance |
| rs551376794 | 7:130,138,034 | C/T | — | uncertain significance |
| rs2485288637 | 7:130,138,052 | A/T | — | uncertain significance |
| rs368365085 | 7:130,138,092 | T/C | — | likely benign |
| rs200944340 | 7:130,138,106 | C/A | — | uncertain significance |
| rs782548896 | 7:130,139,737 | G/A | — | uncertain significance |
| rs863223353 | 7:130,139,739 | C/T | missense variant | pathogenic |
| rs2485300103 | 7:130,140,640 | G/A | — | uncertain significance |
| rs200597618 | 7:130,140,645 | T/G | — | uncertain significance |
| rs1554438767 | 7:130,142,502 | A/G | — | uncertain significance |
| rs1368270432 | 7:130,143,821 | T/C | — | uncertain significance |
| rs1799424558 | 7:130,144,797 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.