BHMT
betaine--homocysteine S-methyltransferase
Summary
This gene encodes a cytosolic enzyme that catalyzes the conversion of betaine and homocysteine to dimethylglycine and methionine, respectively. Defects in this gene could lead to hyperhomocyst(e)inemia, but such a defect has not yet been observed. [provided by RefSeq, Jul 2008]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs16876512 | 5:78,407,261 | C/T | upstream gene variant | — |
| rs773865447 | 5:78,407,727 | A/C | — | uncertain significance |
| rs651852 | 5:78,409,060 | C/T | intron variant | — |
| rs6875201 | 5:78,410,564 | A/G | intron variant | — |
| rs2530889577 | 5:78,411,668 | T/A | — | uncertain significance |
| rs766149888 | 5:78,411,671 | G/A | — | uncertain significance |
| rs753607977 | 5:78,411,677 | G/C | — | uncertain significance |
| rs1756379987 | 5:78,411,716 | G/A | — | uncertain significance |
| rs506500 | 5:78,414,337 | T/C | intron variant | — |
| rs372610894 | 5:78,415,084 | C/T | — | uncertain significance |
| rs147391267 | 5:78,415,085 | G/T | — | uncertain significance |
| rs370702877 | 5:78,415,097 | G/A | — | uncertain significance |
| rs886534149 | 5:78,415,099 | G/C | — | uncertain significance |
| rs1756430837 | 5:78,415,127 | T/A | — | uncertain significance |
| rs35041410 | 5:78,415,137 | C/T | — | benign |
| rs143655897 | 5:78,416,239 | G/A | — | uncertain significance |
| rs567754 | 5:78,416,416 | C/T | intron variant | — |
| rs1247929414 | 5:78,417,050 | C/T | — | uncertain significance |
| rs60947960 | 5:78,417,152 | C/T | — | benign |
| rs59866108 | 5:78,417,158 | G/A | — | benign |
| rs201307547 | 5:78,417,173 | C/T | — | uncertain significance |
| rs549706356 | 5:78,417,179 | G/C | — | uncertain significance |
| rs1644005 | 5:78,417,629 | T/C | intron variant | — |
| rs565111 | 5:78,421,609 | A/C | — | — |
| rs759839401 | 5:78,421,871 | G/A | — | uncertain significance |
| rs2530902487 | 5:78,421,892 | T/G | — | uncertain significance |
| rs752243322 | 5:78,421,943 | G/T | — | uncertain significance |
| rs3733890 | 5:78,421,959 | G/A | missense variant | — |
| rs140612005 | 5:78,421,991 | G/T | — | uncertain significance |
| rs753107730 | 5:78,422,010 | G/A | — | likely benign |
| rs10037045 | 5:78,422,570 | A/T | intron variant | — |
| rs1223020387 | 5:78,423,578 | G/A | — | uncertain significance |
| rs200560732 | 5:78,423,626 | G/A | — | uncertain significance |
| rs558655286 | 5:78,423,656 | T/C | — | uncertain significance |
| rs478667 | 5:78,424,154 | G/T | — | — |
| rs558133 | 5:78,425,188 | C/T | — | — |
| rs1085394 | 5:78,426,650 | G/A | — | — |
| rs148233515 | 5:78,426,859 | G/A | — | uncertain significance |
| rs585800 | 5:78,427,208 | T/A | intron variant | — |
| rs617219 | 5:78,429,594 | A/C | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.