ESD
esterase D
Summary
This gene encodes a serine hydrolase that belongs to the esterase D family. The encoded enzyme is active toward numerous substrates including O-acetylated sialic acids, and it may be involved in the recycling of sialic acids. This gene is used as a genetic marker for retinoblastoma and Wilson's disease. [provided by RefSeq, Feb 2009]
Known Variants19 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs112839562 | 13:47,345,587 | G/A | — | benign |
| rs747238256 | 13:47,345,606 | A/G | — | uncertain significance |
| rs781485567 | 13:47,345,621 | T/C | — | uncertain significance |
| rs15303 | 13:47,345,630 | C/T | missense variant | — |
| rs143158972 | 13:47,351,601 | C/T | — | uncertain significance |
| rs187971603 | 13:47,351,611 | C/T | — | uncertain significance |
| rs371540856 | 13:47,351,634 | G/A | — | uncertain significance |
| rs1226582450 | 13:47,351,664 | C/G | — | uncertain significance |
| rs74317455 | 13:47,351,667 | T/C | — | benign |
| rs762996843 | 13:47,351,709 | T/C | — | uncertain significance |
| rs2542114747 | 13:47,356,823 | C/T | — | uncertain significance |
| rs745601294 | 13:47,356,827 | C/T | — | uncertain significance |
| rs35111834 | 13:47,356,835 | G/A | — | likely benign |
| rs777141750 | 13:47,356,879 | C/G | — | uncertain significance |
| rs943899803 | 13:47,358,474 | T/C | — | uncertain significance |
| rs780388207 | 13:47,361,215 | G/C | — | uncertain significance |
| rs8192888 | 13:47,362,384 | G/A | — | — |
| rs73193056 | 13:47,362,781 | G/C | — | — |
| rs8192884 | 13:47,365,059 | G/A | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.