AMT
aminomethyltransferase
Summary
This gene encodes one of four critical components of the glycine cleavage system. Mutations in this gene have been associated with glycine encephalopathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Known Variants540 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs10640 | 3:49,454,277 | G/A | — | benign |
| rs779703869 | 3:49,454,295 | G/C | — | uncertain significance |
| rs2049007839 | 3:49,454,352 | T/C | — | uncertain significance |
| rs1477520548 | 3:49,454,357 | G/A | — | uncertain significance |
| rs114057053 | 3:49,454,428 | G/A | — | uncertain significance |
| rs746995778 | 3:49,454,549 | C/G | — | uncertain significance |
| rs571207015 | 3:49,454,557 | G/A | — | likely benign |
| rs761498529 | 3:49,454,566 | A/G | — | uncertain significance |
| rs200568631 | 3:49,454,810 | C/G | — | uncertain significance |
| rs143731179 | 3:49,454,843 | C/A | — | likely benign |
| rs745685639 | 3:49,454,887 | C/A | — | uncertain significance |
| rs2107928357 | 3:49,454,979 | G/C | — | likely benign |
| rs2049018724 | 3:49,454,981 | G/A | — | uncertain significance |
| rs1489152600 | 3:49,454,982 | G/A | — | likely benign |
| rs752952950 | 3:49,454,983 | G/T | — | uncertain significance |
| rs201548428 | 3:49,454,986 | T/C | — | uncertain significance |
| rs1180285041 | 3:49,454,987 | A/G | — | uncertain significance |
| rs756452579 | 3:49,454,988 | G/A | — | likely benign |
| rs2107928409 | 3:49,454,994 | T/G | — | likely benign |
| rs886058683 | 3:49,454,995 | G/T | — | uncertain significance |
| rs200180779 | 3:49,454,998 | G/A | — | uncertain significance |
| rs2049019296 | 3:49,455,004 | A/G | — | uncertain significance |
| rs2049019544 | 3:49,455,021 | T/G | — | likely benign |
| rs749359730 | 3:49,455,023 | C/T | — | uncertain significance |
| rs757170367 | 3:49,455,028 | A/G | — | uncertain significance |
| rs972972652 | 3:49,455,030 | C/G | — | uncertain significance |
| rs1553638206 | 3:49,455,032 | G/A | — | pathogenic |
| rs141246107 | 3:49,455,040 | C/T | — | conflicting classifications of pathogenicity |
| rs771853703 | 3:49,455,043 | C/T | — | uncertain significance |
| rs775324601 | 3:49,455,044 | G/A | — | uncertain significance |
| rs746645414 | 3:49,455,045 | C/G | — | likely benign |
| rs1306590343 | 3:49,455,047 | C/T | — | uncertain significance |
| rs201189946 | 3:49,455,049 | T/G | — | uncertain significance |
| rs2107928520 | 3:49,455,051 | T/G | — | likely benign |
| rs2471145182 | 3:49,455,054 | C/T | — | likely benign |
| rs2107928524 | 3:49,455,057 | C/G | — | likely benign |
| rs2471145207 | 3:49,455,061 | A/G | — | uncertain significance |
| rs2107928529 | 3:49,455,063 | T/C | — | likely benign |
| rs147006017 | 3:49,455,073 | C/T | — | conflicting classifications of pathogenicity |
| rs1200405341 | 3:49,455,074 | G/A | — | uncertain significance |
| rs2471145249 | 3:49,455,077 | T/C | — | uncertain significance |
| rs760178260 | 3:49,455,079 | T/C | — | uncertain significance |
| rs767969842 | 3:49,455,081 | C/T | — | likely benign |
| rs373140736 | 3:49,455,083 | C/A | — | pathogenic |
| rs753150990 | 3:49,455,084 | G/T | — | pathogenic |
| rs760912937 | 3:49,455,086 | A/C | — | uncertain significance |
| rs1231229906 | 3:49,455,087 | G/A | — | likely benign |
| rs201400089 | 3:49,455,088 | G/A | — | uncertain significance |
| rs1367905315 | 3:49,455,090 | C/T | — | likely benign |
| rs764246902 | 3:49,455,093 | A/G | — | likely benign |
| rs2471145348 | 3:49,455,096 | A/G | — | likely benign |
| rs1167886830 | 3:49,455,098 | C/G | — | pathogenic |
| rs753899057 | 3:49,455,102 | C/T | — | likely benign |
| rs757293245 | 3:49,455,103 | G/A | — | uncertain significance |
| rs1559527521 | 3:49,455,108 | A/G | — | likely benign |
| rs2107928652 | 3:49,455,109 | T/G | — | uncertain significance |
| rs2471145413 | 3:49,455,112 | T/G | — | uncertain significance |
| rs377227163 | 3:49,455,123 | G/T | — | likely benign |
| rs2471145488 | 3:49,455,125 | G/A | — | uncertain significance |
| rs571827952 | 3:49,455,126 | G/A | — | likely benign |
| rs768293167 | 3:49,455,127 | G/T | — | likely pathogenic |
| rs747901545 | 3:49,455,132 | G/A | — | likely benign |
| rs1457200551 | 3:49,455,145 | A/G | — | uncertain significance |
| rs2049022729 | 3:49,455,146 | C/G | — | uncertain significance |
| rs532787574 | 3:49,455,147 | A/G | — | likely benign |
| rs1575302765 | 3:49,455,152 | C/G | — | uncertain significance |
| rs1484366102 | 3:49,455,157 | A/G | — | likely benign |
| rs1195219221 | 3:49,455,159 | G/A | — | likely benign |
| rs1009661817 | 3:49,455,162 | A/C | — | likely benign |
| rs772896226 | 3:49,455,165 | A/G | — | likely benign |
| rs1219437833 | 3:49,455,167 | A/G | — | likely benign |
| rs760086617 | 3:49,455,170 | C/T | — | likely benign |
| rs375727509 | 3:49,455,233 | C/G | — | likely benign |
| rs2107928938 | 3:49,455,234 | T/C | — | likely benign |
| rs1173889599 | 3:49,455,238 | C/G | — | likely benign |
| rs747733053 | 3:49,455,241 | G/A | — | likely benign |
| rs2471145947 | 3:49,455,246 | C/T | — | uncertain significance |
| rs1553638247 | 3:49,455,249 | A/G | — | pathogenic |
| rs2107928969 | 3:49,455,250 | C/T | — | pathogenic |
| rs2049024917 | 3:49,455,254 | T/A | — | uncertain significance |
| rs1553638253 | 3:49,455,255 | C/T | — | likely benign |
| rs769609020 | 3:49,455,263 | C/T | — | uncertain significance |
| rs1339213409 | 3:49,455,273 | C/G | — | likely benign |
| rs1239721865 | 3:49,455,275 | G/A | — | likely benign |
| rs370016900 | 3:49,455,276 | G/A | — | likely benign |
| rs2107929049 | 3:49,455,279 | G/A | — | likely benign |
| rs2471146067 | 3:49,455,282 | A/G | — | likely benign |
| rs2107929053 | 3:49,455,283 | C/A | — | uncertain significance |
| rs1368099067 | 3:49,455,292 | C/T | — | pathogenic |
| rs541011963 | 3:49,455,293 | G/A | — | likely pathogenic |
| rs765464808 | 3:49,455,302 | C/T | — | uncertain significance |
| rs773215128 | 3:49,455,312 | C/T | — | uncertain significance |
| rs766509002 | 3:49,455,322 | A/G | — | uncertain significance |
| rs149457059 | 3:49,455,323 | C/T | — | conflicting classifications of pathogenicity |
| rs121964985 | 3:49,455,325 | C/T | missense variant | pathogenic |
| rs866625610 | 3:49,455,326 | G/A | — | pathogenic |
| rs2049026846 | 3:49,455,327 | C/T | — | likely benign |
| rs11715915 | 3:49,455,330 | T/C | — | benign |
| rs755780814 | 3:49,455,331 | C/T | — | uncertain significance |
| rs777583902 | 3:49,455,332 | G/A | — | uncertain significance |
Showing 100 of 540 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.