HHAT
hedgehog acyltransferase
Summary
'Skinny hedgehog' (SKI1) encodes an enzyme that acts within the secretory pathway to catalyze amino-terminal palmitoylation of 'hedgehog' (see MIM 600725).[supplied by OMIM, Jul 2002]
Known Variants94 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2084746548 | 1:210,502,383 | G/C | — | uncertain significance |
| rs1300266281 | 1:210,502,395 | G/A | — | uncertain significance |
| rs765259953 | 1:210,502,415 | C/G | — | uncertain significance |
| rs1202874500 | 1:210,502,435 | G/C | — | likely benign |
| rs4844520 | 1:210,517,799 | A/G | intron variant | — |
| rs1340611668 | 1:210,522,320 | A/T | — | likely pathogenic |
| rs2086774283 | 1:210,522,322 | G/A | — | uncertain significance |
| rs141741088 | 1:210,522,370 | C/T | — | likely benign |
| rs138327418 | 1:210,522,387 | A/G | — | likely benign |
| rs2147971923 | 1:210,522,430 | A/G | — | likely benign |
| rs7527939 | 1:210,536,025 | C/T | regulatory region variant | — |
| rs766153389 | 1:210,536,190 | G/T | — | likely benign |
| rs76072802 | 1:210,536,191 | G/T | — | likely benign |
| rs141591165 | 1:210,536,249 | G/A | — | uncertain significance |
| rs149074859 | 1:210,536,268 | A/C | — | likely benign |
| rs11119469 | 1:210,536,278 | C/A | — | benign |
| rs139380328 | 1:210,560,816 | C/T | — | uncertain significance |
| rs147287125 | 1:210,560,817 | G/A | — | likely benign |
| rs867091715 | 1:210,560,819 | C/A | — | uncertain significance |
| rs539661329 | 1:210,560,820 | C/T | — | likely benign |
| rs145344074 | 1:210,560,919 | A/G | — | benign |
| rs145455128 | 1:210,573,873 | C/T | — | uncertain significance |
| rs1046862949 | 1:210,573,882 | C/A | — | uncertain significance |
| rs141306397 | 1:210,573,924 | A/G | — | uncertain significance |
| rs138752308 | 1:210,573,929 | C/T | — | uncertain significance |
| rs376054556 | 1:210,573,945 | C/T | — | uncertain significance |
| rs2528327296 | 1:210,573,959 | C/G | — | uncertain significance |
| rs878891703 | 1:210,573,992 | G/A | — | uncertain significance |
| rs754462235 | 1:210,574,001 | G/A | — | uncertain significance |
| rs1055755703 | 1:210,577,809 | G/C | — | uncertain significance |
| rs34772809 | 1:210,577,831 | C/T | — | benign |
| rs567439002 | 1:210,577,865 | C/T | — | benign |
| rs145435771 | 1:210,577,866 | G/A | — | uncertain significance |
| rs2066721 | 1:210,577,873 | C/G | — | benign |
| rs765901690 | 1:210,577,881 | C/G | — | uncertain significance |
| rs182753413 | 1:210,577,882 | C/A | — | benign |
| rs2294851 | 1:210,577,884 | G/A | — | benign |
| rs34228541 | 1:210,577,901 | C/T | — | benign |
| rs758432747 | 1:210,577,917 | C/G | — | uncertain significance |
| rs376601925 | 1:210,577,926 | C/T | — | uncertain significance |
| rs769462211 | 1:210,577,965 | T/A | — | uncertain significance |
| rs2528364456 | 1:210,577,988 | G/A | — | uncertain significance |
| rs147320835 | 1:210,578,003 | T/C | — | uncertain significance |
| rs1017387804 | 1:210,578,008 | G/A | — | likely benign |
| rs150829967 | 1:210,578,029 | G/C | — | benign |
| rs758486076 | 1:210,578,032 | C/T | — | benign |
| rs150402482 | 1:210,591,512 | A/G | — | benign |
| rs751000967 | 1:210,591,554 | G/A | — | likely benign |
| rs2092784129 | 1:210,591,583 | T/C | — | pathogenic |
| rs146187564 | 1:210,591,587 | C/T | — | likely benign |
| rs770748303 | 1:210,591,588 | G/A | — | uncertain significance |
| rs576213719 | 1:210,591,602 | C/A | — | likely benign |
| rs769514962 | 1:210,591,604 | T/C | — | uncertain significance |
| rs10863827 | 1:210,592,148 | G/A | intron variant | — |
| rs1173716957 | 1:210,637,852 | G/T | — | pathogenic |
| rs779948186 | 1:210,637,908 | G/A | — | uncertain significance |
| rs2094055806 | 1:210,637,914 | G/A | — | uncertain significance |
| rs200901586 | 1:210,637,924 | T/C | — | uncertain significance |
| rs777865030 | 1:210,637,926 | C/T | — | uncertain significance |
| rs34362403 | 1:210,637,927 | G/A | — | benign |
| rs142420396 | 1:210,637,949 | C/T | — | benign |
| rs146916002 | 1:210,637,959 | C/T | — | uncertain significance |
| rs761087864 | 1:210,637,988 | C/T | — | likely benign |
| rs61744143 | 1:210,637,989 | G/A | — | likely benign |
| rs371539891 | 1:210,638,007 | G/T | — | likely benign |
| rs1471698324 | 1:210,686,516 | C/T | — | uncertain significance |
| rs536642077 | 1:210,758,799 | C/T | — | — |
| rs768820197 | 1:210,761,261 | G/A | — | uncertain significance |
| rs368664412 | 1:210,761,263 | C/T | — | likely benign |
| rs150462339 | 1:210,761,296 | T/G | — | uncertain significance |
| rs761470224 | 1:210,761,301 | C/T | — | uncertain significance |
| rs766659481 | 1:210,761,302 | G/A | — | likely benign |
| rs755100445 | 1:210,761,305 | G/A | — | likely benign |
| rs149597734 | 1:210,761,310 | C/T | — | likely benign |
| rs769492158 | 1:210,761,332 | G/A | — | pathogenic |
| rs145923092 | 1:210,761,344 | C/T | — | benign |
| rs148696006 | 1:210,761,346 | A/G | — | uncertain significance |
| rs35867665 | 1:210,761,365 | A/G | — | benign |
| rs139134333 | 1:210,761,367 | C/T | — | uncertain significance |
| rs75401104 | 1:210,761,378 | C/T | — | likely benign |
| rs1435366590 | 1:210,761,399 | G/A | — | uncertain significance |
| rs144274904 | 1:210,761,405 | C/T | — | uncertain significance |
| rs4297293 | 1:210,761,462 | G/C | — | benign |
| rs372287242 | 1:210,796,874 | G/A | — | conflicting classifications of pathogenicity |
| rs778537110 | 1:210,796,894 | C/T | — | uncertain significance |
| rs117382486 | 1:210,796,908 | C/T | — | likely benign |
| rs761262503 | 1:210,796,935 | G/C | — | likely benign |
| rs1669290513 | 1:210,796,949 | C/A | — | uncertain significance |
| rs147954610 | 1:210,796,973 | A/G | — | likely benign |
| rs373047974 | 1:210,847,618 | C/T | — | likely benign |
| rs1389282522 | 1:210,847,675 | A/G | — | uncertain significance |
| rs145943928 | 1:210,847,696 | G/T | — | likely benign |
| rs149330774 | 1:210,847,709 | C/T | — | likely benign |
| rs148466987 | 1:210,847,714 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.