ECE1
endothelin converting enzyme 1
Summary
The protein encoded by this gene is involved in proteolytic processing of endothelin precursors to biologically active peptides. Mutations in this gene are associated with Hirschsprung disease, cardiac defects and autonomic dysfunction. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Sep 2009]
Known Variants81 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2551188243 | 1:21,544,228 | G/A | — | likely benign |
| rs74343247 | 1:21,544,247 | T/A | — | benign |
| rs3026906 | 1:21,546,501 | G/A | missense variant | pathogenic |
| rs771942376 | 1:21,546,574 | G/A | — | likely benign |
| rs2551191425 | 1:21,546,597 | T/C | — | uncertain significance |
| rs757207956 | 1:21,546,608 | C/T | — | uncertain significance |
| rs2551196644 | 1:21,551,764 | C/A | — | likely benign |
| rs367812436 | 1:21,551,817 | C/T | — | likely pathogenic |
| rs140832903 | 1:21,551,823 | C/T | — | likely benign |
| rs1029538658 | 1:21,551,872 | G/C | — | likely benign |
| rs199733557 | 1:21,551,899 | T/G | — | likely benign |
| rs200894751 | 1:21,551,904 | G/A | — | likely pathogenic |
| rs759229479 | 1:21,551,917 | C/T | — | likely benign |
| rs2551196927 | 1:21,551,919 | T/G | — | uncertain significance |
| rs760171613 | 1:21,551,930 | C/T | — | uncertain significance |
| rs3026903 | 1:21,553,723 | G/T | — | benign |
| rs1170301653 | 1:21,554,452 | C/G | — | uncertain significance |
| rs752979342 | 1:21,554,464 | C/T | — | uncertain significance |
| rs149021429 | 1:21,554,495 | C/T | — | benign |
| rs1015101788 | 1:21,554,519 | C/T | — | likely benign |
| rs2098184396 | 1:21,560,052 | G/C | — | uncertain significance |
| rs2228321 | 1:21,560,080 | A/G | — | benign |
| rs972354666 | 1:21,560,120 | G/A | — | uncertain significance |
| rs28368018 | 1:21,562,343 | G/A | — | likely benign |
| rs2551211379 | 1:21,562,344 | T/C | — | uncertain significance |
| rs143819896 | 1:21,562,363 | G/A | — | likely benign |
| rs144737209 | 1:21,563,282 | A/G | — | uncertain significance |
| rs141146885 | 1:21,564,631 | C/T | — | likely benign |
| rs146655154 | 1:21,564,671 | G/C | — | uncertain significance |
| rs148461660 | 1:21,564,860 | C/T | regulatory region variant | — |
| rs28368004 | 1:21,571,475 | A/G | — | benign |
| rs372113894 | 1:21,571,562 | G/A | — | uncertain significance |
| rs145301395 | 1:21,571,570 | T/C | — | benign |
| rs12562197 | 1:21,571,601 | G/A | — | benign |
| rs41319152 | 1:21,573,705 | T/G | — | likely benign |
| rs2098204965 | 1:21,573,720 | T/C | — | uncertain significance |
| rs2229450 | 1:21,573,722 | G/A | — | benign |
| rs2098205046 | 1:21,573,765 | T/C | — | uncertain significance |
| rs774332009 | 1:21,573,784 | C/T | — | uncertain significance |
| rs2103263807 | 1:21,573,805 | G/T | — | uncertain significance |
| rs765763704 | 1:21,573,810 | A/C | — | likely pathogenic |
| rs139326467 | 1:21,573,817 | T/C | — | benign |
| rs1076669 | 1:21,573,855 | G/A | — | benign |
| rs212517 | 1:21,577,159 | T/C | — | — |
| rs212522 | 1:21,582,425 | C/T | — | benign |
| rs867547949 | 1:21,582,525 | G/A | — | uncertain significance |
| rs145311594 | 1:21,582,583 | C/T | — | uncertain significance |
| rs146875784 | 1:21,582,599 | C/A | — | uncertain significance |
| rs915725019 | 1:21,584,009 | C/T | — | likely benign |
| rs28367984 | 1:21,584,010 | A/G | — | benign |
| rs763938523 | 1:21,584,039 | C/T | — | likely benign |
| rs1202115507 | 1:21,584,050 | C/A | — | uncertain significance |
| rs763305486 | 1:21,585,219 | G/A | — | likely benign |
| rs551629069 | 1:21,585,265 | G/A | — | uncertain significance |
| rs142988424 | 1:21,586,808 | T/C | — | uncertain significance |
| rs150644074 | 1:21,586,831 | C/T | — | uncertain significance |
| rs147475863 | 1:21,586,862 | C/T | — | likely benign |
| rs13306313 | 1:21,586,875 | C/T | — | benign |
| rs1481851362 | 1:21,599,222 | G/T | — | uncertain significance |
| rs201518159 | 1:21,599,301 | G/A | — | likely benign |
| rs1553364718 | 1:21,605,747 | C/T | — | uncertain significance |
| rs199521200 | 1:21,605,750 | A/C | — | conflicting classifications of pathogenicity |
| rs199666282 | 1:21,605,779 | C/T | — | uncertain significance |
| rs550640315 | 1:21,605,807 | G/C | — | uncertain significance |
| rs536975210 | 1:21,605,860 | G/A | — | likely benign |
| rs557365161 | 1:21,616,556 | C/T | — | likely benign |
| rs1289068792 | 1:21,616,570 | C/T | — | uncertain significance |
| rs142532754 | 1:21,616,571 | C/G | — | uncertain significance |
| rs1351373810 | 1:21,616,597 | A/G | — | uncertain significance |
| rs2544770998 | 1:21,616,631 | C/T | — | uncertain significance |
| rs1398978758 | 1:21,616,864 | G/A | — | uncertain significance |
| rs1024143446 | 1:21,616,865 | C/T | — | uncertain significance |
| rs193017331 | 1:21,616,884 | C/T | — | benign |
| rs2098265444 | 1:21,616,889 | G/A | — | uncertain significance |
| rs213045 | 1:21,617,245 | G/T | regulatory region variant | risk factor |
| rs213046 | 1:21,617,746 | A/C | upstream gene variant | risk factor |
| rs12737859 | 1:21,630,291 | C/T | downstream gene variant | — |
| rs3026827 | 1:21,651,179 | G/A | regulatory region variant | — |
| rs213032 | 1:21,654,735 | T/C | intron variant | — |
| rs114921587 | 1:21,671,973 | G/A | regulatory region variant | — |
| rs146253613 | 1:21,672,873 | T/G | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.