SHMT1
serine hydroxymethyltransferase 1
Summary
This gene encodes the cytosolic form of serine hydroxymethyltransferase, a pyridoxal phosphate-containing enzyme that catalyzes the reversible conversion of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate. This reaction provides one-carbon units for synthesis of methionine, thymidylate, and purines in the cytoplasm. This gene is located within the Smith-Magenis syndrome region on chromosome 17. A pseudogene of this gene is located on the short arm of chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Known Variants45 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1979276 | 17:18,231,998 | G/C | — | — |
| rs2545652385 | 17:18,232,083 | G/C | — | uncertain significance |
| rs754597433 | 17:18,232,095 | A/C | — | uncertain significance |
| rs1979277 | 17:18,232,096 | G/A | missense variant | uncertain significance |
| rs140013206 | 17:18,232,133 | C/T | synonymous variant | — |
| rs116100382 | 17:18,232,136 | G/A | — | benign |
| rs774151028 | 17:18,232,140 | G/A | — | uncertain significance |
| rs2507946503 | 17:18,232,175 | C/A | — | uncertain significance |
| rs758246853 | 17:18,232,200 | G/A | — | likely benign |
| rs1487558951 | 17:18,232,670 | G/A | — | uncertain significance |
| rs140862126 | 17:18,232,685 | G/A | — | uncertain significance |
| rs12451555 | 17:18,233,272 | T/G | downstream gene variant | — |
| rs1983096190 | 17:18,233,905 | C/A | — | uncertain significance |
| rs73981307 | 17:18,236,474 | C/T | — | likely benign |
| rs758066653 | 17:18,236,488 | A/G | — | uncertain significance |
| rs751081738 | 17:18,236,504 | C/G | — | uncertain significance |
| rs7215148 | 17:18,236,516 | C/G | — | benign |
| rs185437646 | 17:18,236,600 | C/T | — | uncertain significance |
| rs762791030 | 17:18,238,879 | T/C | — | uncertain significance |
| rs202224272 | 17:18,238,908 | C/A | — | uncertain significance |
| rs115557642 | 17:18,238,992 | G/A | — | benign |
| rs761337992 | 17:18,243,383 | C/T | — | uncertain significance |
| rs1984320933 | 17:18,243,398 | G/A | — | uncertain significance |
| rs141575508 | 17:18,243,418 | C/G | — | benign |
| rs978957356 | 17:18,243,461 | G/A | — | likely benign |
| rs889211254 | 17:18,243,471 | C/T | — | uncertain significance |
| rs376383952 | 17:18,243,506 | C/T | — | uncertain significance |
| rs78909145 | 17:18,243,524 | T/C | — | benign |
| rs115185998 | 17:18,243,534 | G/A | — | likely benign |
| rs749495164 | 17:18,244,075 | C/T | — | uncertain significance |
| rs377036954 | 17:18,244,133 | G/C | — | likely benign |
| rs1975822 | 17:18,244,770 | C/T | intron variant | — |
| rs9909104 | 17:18,248,021 | T/C | intron variant | — |
| rs766011995 | 17:18,250,919 | C/T | — | uncertain significance |
| rs1208262475 | 17:18,251,654 | C/T | — | uncertain significance |
| rs1369875074 | 17:18,251,675 | G/A | — | uncertain significance |
| rs745592767 | 17:18,251,682 | C/G | — | uncertain significance |
| rs1402095301 | 17:18,251,707 | T/A | — | uncertain significance |
| rs768178817 | 17:18,251,731 | A/G | — | uncertain significance |
| rs146685424 | 17:18,254,480 | G/A | intron variant | — |
| rs8070162 | 17:18,256,976 | A/G | — | benign |
| rs768420973 | 17:18,259,256 | G/A | — | likely benign |
| rs1318749045 | 17:18,259,289 | T/C | — | uncertain significance |
| rs143807950 | 17:18,259,294 | A/C | — | likely benign |
| rs638416 | 17:18,266,975 | G/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.