CERT1
ceramide transporter 1
Summary
This gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture disease is the result of an autoimmune response directed at this antigen. One isoform of this protein is also involved in ceramide intracellular transport. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants152 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1038846101 | 5:74,652,774 | G/A | — | likely benign |
| rs188153918 | 5:74,652,837 | C/T | — | likely benign |
| rs7733436 | 5:74,666,492 | C/A | — | — |
| rs1257682813 | 5:74,669,871 | T/C | — | likely benign |
| rs1233679911 | 5:74,670,023 | G/A | — | benign |
| rs2478878068 | 5:74,675,185 | G/A | — | uncertain significance |
| rs373547173 | 5:74,675,213 | A/G | — | likely benign |
| rs2111982436 | 5:74,675,223 | C/A | — | uncertain significance |
| rs371046717 | 5:74,675,246 | T/C | — | likely benign |
| rs2478878711 | 5:74,675,275 | C/A | — | uncertain significance |
| rs190220472 | 5:74,675,302 | C/T | — | likely benign |
| rs746276341 | 5:74,676,901 | A/G | — | likely benign |
| rs2111990876 | 5:74,676,911 | G/A | — | uncertain significance |
| rs141459538 | 5:74,676,922 | T/C | — | likely benign |
| rs35875083 | 5:74,676,937 | G/A | — | likely benign |
| rs761229265 | 5:74,676,938 | C/T | — | uncertain significance |
| rs138391738 | 5:74,676,958 | T/C | — | likely benign |
| rs762397975 | 5:74,677,007 | C/T | — | uncertain significance |
| rs1328603510 | 5:74,677,008 | G/A | — | uncertain significance |
| rs751943626 | 5:74,677,016 | C/T | — | uncertain significance |
| rs756491643 | 5:74,677,775 | G/A | — | likely benign |
| rs2478892773 | 5:74,677,778 | G/A | — | uncertain significance |
| rs1163232646 | 5:74,677,781 | C/T | — | uncertain significance |
| rs2478893088 | 5:74,677,821 | C/T | — | uncertain significance |
| rs2478893146 | 5:74,677,827 | C/A | — | uncertain significance |
| rs115687524 | 5:74,677,870 | T/C | — | likely benign |
| rs574660312 | 5:74,677,881 | G/T | — | likely benign |
| rs2478893590 | 5:74,677,893 | G/T | — | uncertain significance |
| rs534117773 | 5:74,677,908 | G/A | — | benign |
| rs139096937 | 5:74,680,490 | T/C | — | likely benign |
| rs1239593876 | 5:74,680,516 | A/G | — | uncertain significance |
| rs698912 | 5:74,681,773 | T/C | — | benign |
| rs1761768279 | 5:74,681,776 | A/T | — | uncertain significance |
| rs1257986658 | 5:74,681,777 | T/C | — | likely benign |
| rs1286958678 | 5:74,681,789 | C/T | — | uncertain significance |
| rs1012873977 | 5:74,681,798 | G/A | — | uncertain significance |
| rs764260078 | 5:74,681,827 | A/T | — | likely benign |
| rs375406284 | 5:74,681,843 | A/C | — | uncertain significance |
| rs61754509 | 5:74,681,844 | C/T | — | uncertain significance |
| rs2478914346 | 5:74,681,855 | T/C | — | uncertain significance |
| rs148645687 | 5:74,681,857 | T/C | — | likely benign |
| rs1761771422 | 5:74,681,859 | C/T | — | uncertain significance |
| rs144328589 | 5:74,685,409 | G/A | — | likely benign |
| rs2112032292 | 5:74,685,416 | C/T | — | uncertain significance |
| rs368535332 | 5:74,685,474 | T/C | — | benign |
| rs931432515 | 5:74,685,488 | T/C | — | uncertain significance |
| rs2478936516 | 5:74,685,489 | G/C | — | uncertain significance |
| rs114564914 | 5:74,685,500 | C/G | — | uncertain significance |
| rs3761743 | 5:74,685,520 | A/G | — | benign |
| rs1477083723 | 5:74,695,138 | G/A | — | likely benign |
| rs747847141 | 5:74,695,169 | C/A | — | uncertain significance |
| rs1338345260 | 5:74,695,176 | G/C | — | uncertain significance |
| rs1226408031 | 5:74,695,191 | T/C | — | uncertain significance |
| rs267600691 | 5:74,695,203 | G/A | — | uncertain significance |
| rs371039682 | 5:74,695,208 | T/C | — | likely benign |
| rs951412682 | 5:74,696,033 | T/C | — | likely benign |
| rs564849044 | 5:74,696,036 | G/T | — | likely benign |
| rs765993740 | 5:74,696,050 | T/C | — | uncertain significance |
| rs374870769 | 5:74,696,066 | G/C | — | likely benign |
| rs368093187 | 5:74,696,067 | G/C | — | uncertain significance |
| rs1185014609 | 5:74,696,086 | A/C | — | uncertain significance |
| rs747392475 | 5:74,696,099 | T/C | — | likely benign |
| rs2479008037 | 5:74,698,815 | T/G | — | uncertain significance |
| rs142100179 | 5:74,698,860 | A/G | — | likely benign |
| rs2479008311 | 5:74,698,871 | T/A | — | uncertain significance |
| rs1580721623 | 5:74,698,878 | G/C | — | likely benign |
| rs1580721647 | 5:74,698,890 | C/G | — | likely benign |
| rs2479055894 | 5:74,706,843 | T/A | — | uncertain significance |
| rs1417704749 | 5:74,706,861 | G/T | — | uncertain significance |
| rs1762917131 | 5:74,706,894 | T/A | — | uncertain significance |
| rs2479056353 | 5:74,706,895 | A/G | — | uncertain significance |
| rs2479056502 | 5:74,706,913 | T/C | — | uncertain significance |
| rs1762918107 | 5:74,706,920 | C/G | — | uncertain significance |
| rs1763155669 | 5:74,712,738 | A/G | — | uncertain significance |
| rs2479084258 | 5:74,712,769 | C/G | — | uncertain significance |
| rs1763157412 | 5:74,712,777 | C/T | — | uncertain significance |
| rs200264269 | 5:74,712,803 | C/T | — | likely benign |
| rs2479084304 | 5:74,712,804 | G/A | — | uncertain significance |
| rs2112150100 | 5:74,712,810 | C/G | — | likely pathogenic |
| rs2479084407 | 5:74,712,820 | C/A | — | uncertain significance |
| rs141293652 | 5:74,715,216 | G/A | — | likely benign |
| rs754823651 | 5:74,715,257 | A/G | — | likely benign |
| rs781740125 | 5:74,721,181 | T/G | — | uncertain significance |
| rs2479126310 | 5:74,721,186 | C/T | — | uncertain significance |
| rs543599778 | 5:74,721,227 | C/A | — | uncertain significance |
| rs2112183597 | 5:74,721,267 | A/G | — | uncertain significance |
| rs1580752093 | 5:74,721,285 | T/C | — | likely pathogenic |
| rs1554038957 | 5:74,721,306 | C/T | — | likely pathogenic |
| rs61759489 | 5:74,721,308 | C/A | — | uncertain significance |
| rs61754510 | 5:74,722,202 | T/C | — | likely benign |
| rs2479132508 | 5:74,722,233 | G/A | — | uncertain significance |
| rs1763618466 | 5:74,722,239 | G/A | — | conflicting classifications of pathogenicity |
| rs140876282 | 5:74,722,244 | C/T | — | likely benign |
| rs1763619016 | 5:74,722,248 | G/A | — | likely pathogenic |
| rs751274580 | 5:74,722,255 | T/C | — | uncertain significance |
| rs1064794019 | 5:74,722,257 | G/A | missense variant | pathogenic |
| rs1554039069 | 5:74,722,258 | A/G | — | pathogenic |
| rs916090030 | 5:74,722,266 | C/T | — | uncertain significance |
| rs995534431 | 5:74,722,282 | C/G | — | conflicting classifications of pathogenicity |
| rs187268231 | 5:74,746,996 | T/A | intron variant | — |
Showing 100 of 152 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.