KMT5A
lysine methyltransferase 5A
Summary
The protein encoded by this gene is a protein-lysine N-methyltransferase that can monomethylate Lys-20 of histone H4 to effect transcriptional repression of some genes. The encoded protein is required for cell proliferation and plays a role in chromatin condensation. [provided by RefSeq, May 2016]
Known Variants12 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs28516750 | 12:123,867,994 | G/C | — | — |
| rs193920812 | 12:123,879,591 | C/A | — | uncertain significance |
| rs28637945 | 12:123,880,120 | T/A | — | — |
| rs28866344 | 12:123,885,484 | A/G | intron variant | — |
| rs112196150 | 12:123,885,928 | T/C | intron variant | — |
| rs370591186 | 12:123,885,930 | C/T | — | — |
| rs768674899 | 12:123,889,476 | C/G | — | uncertain significance |
| rs61955124 | 12:123,889,492 | A/C | — | likely benign |
| rs28576953 | 12:123,890,276 | C/T | intron variant | — |
| rs28496545 | 12:123,890,893 | C/T | intron variant | — |
| rs6576 | 12:123,892,934 | G/C | — | — |
| rs111937532 | 12:123,893,222 | A/G | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.