ABHD11
abhydrolase domain containing 11
Summary
This gene encodes a protein containing an alpha/beta hydrolase fold domain. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. [provided by RefSeq, Mar 2016]
Known Variants27 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs145100543 | 7:73,150,908 | A/G | — | uncertain significance |
| rs782283677 | 7:73,150,968 | G/A | — | uncertain significance |
| rs369972809 | 7:73,150,995 | C/T | — | uncertain significance |
| rs201844573 | 7:73,151,400 | T/C | — | uncertain significance |
| rs1799965637 | 7:73,151,412 | G/A | — | uncertain significance |
| rs143075789 | 7:73,151,427 | C/T | — | uncertain significance |
| rs782188494 | 7:73,151,428 | G/A | — | uncertain significance |
| rs782364772 | 7:73,151,431 | C/T | — | uncertain significance |
| rs782797932 | 7:73,151,594 | C/A | — | uncertain significance |
| rs1554622276 | 7:73,151,700 | T/C | — | uncertain significance |
| rs200897838 | 7:73,151,706 | G/A | — | uncertain significance |
| rs567820396 | 7:73,151,895 | C/G | — | uncertain significance |
| rs781829263 | 7:73,151,900 | G/C | — | uncertain significance |
| rs782576844 | 7:73,151,926 | C/T | — | uncertain significance |
| rs1800037693 | 7:73,151,930 | T/C | — | not provided |
| rs1800039943 | 7:73,151,942 | C/T | — | likely benign |
| rs536436100 | 7:73,151,948 | C/T | — | uncertain significance |
| rs1554622414 | 7:73,151,971 | G/A | — | uncertain significance |
| rs61732632 | 7:73,152,041 | G/C | — | uncertain significance |
| rs781874515 | 7:73,152,058 | G/C | — | uncertain significance |
| rs2484692671 | 7:73,152,677 | G/A | — | uncertain significance |
| rs536463443 | 7:73,152,705 | T/C | — | uncertain significance |
| rs781826958 | 7:73,152,718 | G/T | — | uncertain significance |
| rs782079445 | 7:73,152,761 | C/A | — | uncertain significance |
| rs782164719 | 7:73,152,773 | C/T | — | likely benign |
| rs369853171 | 7:73,153,025 | G/A | — | uncertain significance |
| rs782771216 | 7:73,153,051 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.