GNMT
glycine N-methyltransferase
Summary
The protein encoded by this gene is an enzyme that catalyzes the conversion of S-adenosyl-L-methionine (along with glycine) to S-adenosyl-L-homocysteine and sarcosine. This protein is found in the cytoplasm and acts as a homotetramer. Defects in this gene are a cause of GNMT deficiency (hypermethioninemia). Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between the upstream CNPY3 (canopy FGF signaling regulator 3) gene and this gene and is represented with GeneID:107080644. [provided by RefSeq, Jan 2016]
Known Variants88 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs10948059 | 6:42,928,461 | C/T | regulatory region variant | benign |
| rs773780925 | 6:42,928,515 | A/G | — | uncertain significance |
| rs370044528 | 6:42,928,517 | C/T | — | benign |
| rs1769327543 | 6:42,928,530 | C/G | — | uncertain significance |
| rs1300239369 | 6:42,928,543 | T/G | — | uncertain significance |
| rs759988463 | 6:42,928,546 | C/G | — | uncertain significance |
| rs752961004 | 6:42,928,554 | G/A | — | uncertain significance |
| rs2481163170 | 6:42,928,566 | C/T | — | uncertain significance |
| rs913376414 | 6:42,928,581 | G/A | — | uncertain significance |
| rs946310687 | 6:42,928,587 | G/A | — | uncertain significance |
| rs1161642455 | 6:42,928,589 | G/A | — | likely benign |
| rs538620810 | 6:42,928,593 | G/A | — | uncertain significance |
| rs2114223443 | 6:42,928,606 | A/G | — | uncertain significance |
| rs888403943 | 6:42,928,616 | C/G | — | uncertain significance |
| rs745619141 | 6:42,928,618 | C/A | — | uncertain significance |
| rs1055158308 | 6:42,928,647 | T/C | — | uncertain significance |
| rs374383186 | 6:42,928,652 | G/A | — | likely benign |
| rs121907888 | 6:42,928,654 | T/C | missense variant | pathogenic |
| rs1300530729 | 6:42,928,672 | A/G | — | uncertain significance |
| rs1315909137 | 6:42,928,690 | T/C | — | uncertain significance |
| rs994966881 | 6:42,928,694 | C/T | — | likely benign |
| rs1287265412 | 6:42,928,696 | T/C | — | uncertain significance |
| rs2481164621 | 6:42,928,699 | C/T | — | uncertain significance |
| rs777005322 | 6:42,928,706 | C/G | — | likely benign |
| rs762066957 | 6:42,928,708 | C/T | — | uncertain significance |
| rs5031030 | 6:42,928,752 | G/A | — | benign |
| rs2296805 | 6:42,928,758 | T/G | — | benign |
| rs7760250 | 6:42,929,839 | G/A | — | benign |
| rs758388204 | 6:42,929,945 | C/T | — | likely benign |
| rs1276790502 | 6:42,929,963 | A/T | — | uncertain significance |
| rs1015791139 | 6:42,930,000 | A/T | — | uncertain significance |
| rs2481173452 | 6:42,930,002 | G/A | — | uncertain significance |
| rs746552607 | 6:42,930,044 | A/G | — | uncertain significance |
| rs138006194 | 6:42,930,055 | C/G | — | uncertain significance |
| rs535188125 | 6:42,930,062 | G/A | — | benign |
| rs572170490 | 6:42,930,067 | C/T | — | likely benign |
| rs149056383 | 6:42,930,068 | G/A | — | uncertain significance |
| rs1337579360 | 6:42,930,093 | C/T | — | likely benign |
| rs3800292 | 6:42,930,309 | G/A | — | benign |
| rs115749165 | 6:42,930,459 | A/G | — | benign |
| rs759363288 | 6:42,930,504 | C/T | — | likely benign |
| rs370786846 | 6:42,930,505 | G/A | — | uncertain significance |
| rs984054622 | 6:42,930,529 | G/A | — | uncertain significance |
| rs143043221 | 6:42,930,538 | G/A | — | likely benign |
| rs370454543 | 6:42,930,555 | G/A | — | likely benign |
| rs190613711 | 6:42,930,576 | C/T | — | benign |
| rs864321678 | 6:42,930,587 | A/G | missense variant | pathogenic |
| rs776654469 | 6:42,930,595 | G/A | — | uncertain significance |
| rs199535672 | 6:42,930,600 | C/T | — | likely benign |
| rs200015105 | 6:42,930,795 | G/A | — | likely benign |
| rs146275920 | 6:42,930,812 | G/A | — | uncertain significance |
| rs138085632 | 6:42,930,825 | A/C | — | uncertain significance |
| rs142613217 | 6:42,930,827 | C/T | — | conflicting classifications of pathogenicity |
| rs780155247 | 6:42,930,845 | A/G | — | uncertain significance |
| rs2114230613 | 6:42,930,853 | C/T | — | likely benign |
| rs770519701 | 6:42,930,866 | G/C | — | uncertain significance |
| rs147291064 | 6:42,930,877 | G/C | — | likely benign |
| rs121907889 | 6:42,930,887 | C/A | missense variant | pathogenic |
| rs201256313 | 6:42,930,888 | A/G | — | uncertain significance |
| rs2114230841 | 6:42,930,896 | T/C | — | uncertain significance |
| rs147746130 | 6:42,930,898 | C/T | — | likely benign |
| rs200543916 | 6:42,930,903 | A/C | — | uncertain significance |
| rs758306749 | 6:42,930,912 | G/T | — | uncertain significance |
| rs1429685802 | 6:42,930,937 | G/A | — | likely benign |
| rs745587549 | 6:42,930,963 | C/G | — | likely benign |
| rs199634079 | 6:42,931,046 | G/A | — | benign |
| rs777583238 | 6:42,931,088 | C/T | — | uncertain significance |
| rs766824673 | 6:42,931,124 | T/C | — | uncertain significance |
| rs752763722 | 6:42,931,142 | C/T | — | uncertain significance |
| rs772636605 | 6:42,931,155 | G/A | — | likely benign |
| rs757268426 | 6:42,931,157 | G/C | — | uncertain significance |
| rs779697649 | 6:42,931,181 | G/A | — | uncertain significance |
| rs4987174 | 6:42,931,215 | C/T | — | benign |
| rs4987173 | 6:42,931,224 | G/A | — | benign |
| rs2296804 | 6:42,931,261 | C/G | — | benign |
| rs2481185570 | 6:42,931,270 | C/T | — | uncertain significance |
| rs946974235 | 6:42,931,280 | C/T | — | uncertain significance |
| rs754695157 | 6:42,931,323 | T/C | — | uncertain significance |
| rs751469312 | 6:42,931,332 | C/T | — | uncertain significance |
| rs2481186225 | 6:42,931,344 | G/T | — | uncertain significance |
| rs112686919 | 6:42,931,361 | G/A | — | uncertain significance |
| rs936866741 | 6:42,931,370 | G/A | — | uncertain significance |
| rs774250937 | 6:42,931,375 | C/T | — | likely benign |
| rs767379802 | 6:42,931,383 | A/G | — | uncertain significance |
| rs1231641415 | 6:42,931,401 | A/C | — | uncertain significance |
| rs150118634 | 6:42,931,403 | A/G | — | conflicting classifications of pathogenicity |
| rs757976871 | 6:42,931,418 | A/C | — | uncertain significance |
| rs138422129 | 6:42,931,435 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.