IFT122
intraflagellar transport 122
Summary
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This cytoplasmic protein contains seven WD repeats and an AF-2 domain which function by recruiting coregulatory molecules and in transcriptional activation. Mutations in this gene cause cranioectodermal dysplasia-1. A related pseudogene is located on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
Known Variants658 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs148987764 | 3:129,158,964 | C/A | — | likely benign |
| rs3138334 | 3:129,158,968 | A/G | — | benign |
| rs923805618 | 3:129,159,029 | T/A | — | uncertain significance |
| rs551140180 | 3:129,159,152 | C/A | — | uncertain significance |
| rs367704478 | 3:129,159,171 | G/A | — | uncertain significance |
| rs2072785361 | 3:129,159,212 | C/T | — | likely benign |
| rs36222038 | 3:129,159,229 | G/T | — | conflicting classifications of pathogenicity |
| rs1249583465 | 3:129,159,230 | G/A | — | likely benign |
| rs55669321 | 3:129,168,449 | T/C | — | benign |
| rs114963006 | 3:129,168,484 | G/A | — | likely benign |
| rs752213678 | 3:129,168,697 | C/G | — | likely benign |
| rs757753414 | 3:129,168,708 | G/T | — | likely benign |
| rs545154429 | 3:129,168,714 | T/C | — | uncertain significance |
| rs746401252 | 3:129,168,719 | A/C | — | uncertain significance |
| rs139138308 | 3:129,168,726 | C/T | — | uncertain significance |
| rs749466359 | 3:129,168,727 | G/T | — | uncertain significance |
| rs2531044136 | 3:129,168,744 | A/G | — | likely benign |
| rs374303835 | 3:129,168,765 | C/T | — | likely benign |
| rs745762753 | 3:129,168,766 | G/A | — | uncertain significance |
| rs1559838129 | 3:129,168,784 | G/A | — | uncertain significance |
| rs2531045720 | 3:129,168,795 | T/C | — | likely benign |
| rs114298924 | 3:129,170,742 | T/C | — | likely benign |
| rs2531104047 | 3:129,170,743 | G/C | — | likely benign |
| rs2107928880 | 3:129,170,747 | C/T | — | likely benign |
| rs2531104285 | 3:129,170,750 | T/C | — | uncertain significance |
| rs759300038 | 3:129,170,761 | A/G | — | uncertain significance |
| rs2074907966 | 3:129,170,775 | G/A | — | uncertain significance |
| rs371772807 | 3:129,170,780 | C/G | — | conflicting classifications of pathogenicity |
| rs2074912574 | 3:129,170,820 | T/C | — | likely pathogenic |
| rs2074913421 | 3:129,170,828 | A/G | — | likely benign |
| rs373836204 | 3:129,170,831 | T/G | stop gained | pathogenic |
| rs754388967 | 3:129,170,833 | C/T | — | uncertain significance |
| rs755254772 | 3:129,170,834 | G/A | — | likely benign |
| rs778625545 | 3:129,170,837 | G/A | — | likely benign |
| rs2285349 | 3:129,177,346 | C/T | — | benign |
| rs1368477775 | 3:129,177,425 | T/C | — | likely benign |
| rs372702964 | 3:129,177,438 | T/C | — | likely benign |
| rs2531287581 | 3:129,177,445 | A/C | — | uncertain significance |
| rs181971625 | 3:129,177,447 | C/A | — | uncertain significance |
| rs2531287840 | 3:129,177,459 | G/C | — | uncertain significance |
| rs1462512386 | 3:129,177,460 | G/C | — | uncertain significance |
| rs144140226 | 3:129,177,462 | T/G | — | conflicting classifications of pathogenicity |
| rs2108026335 | 3:129,177,468 | G/A | — | uncertain significance |
| rs1012943423 | 3:129,177,475 | G/A | — | uncertain significance |
| rs772835552 | 3:129,177,476 | C/T | — | conflicting classifications of pathogenicity |
| rs369525803 | 3:129,177,477 | G/A | — | conflicting classifications of pathogenicity |
| rs372483083 | 3:129,177,521 | G/A | — | likely pathogenic |
| rs2108027021 | 3:129,177,534 | G/T | — | likely benign |
| rs114519508 | 3:129,177,648 | G/T | — | likely benign |
| rs66586915 | 3:129,179,377 | A/G | — | benign |
| rs1009331489 | 3:129,179,683 | T/A | — | likely benign |
| rs778846137 | 3:129,179,725 | C/T | — | uncertain significance |
| rs2531361644 | 3:129,179,737 | T/G | — | uncertain significance |
| rs116196975 | 3:129,179,740 | C/A | — | benign |
| rs2531361921 | 3:129,179,748 | C/T | — | likely benign |
| rs372945368 | 3:129,179,758 | G/C | — | uncertain significance |
| rs794727737 | 3:129,179,763 | A/T | — | uncertain significance |
| rs1203627256 | 3:129,179,770 | G/A | — | likely benign |
| rs772348994 | 3:129,179,788 | A/G | — | uncertain significance |
| rs376246143 | 3:129,179,803 | A/T | — | uncertain significance |
| rs754034427 | 3:129,179,805 | G/A | — | benign |
| rs369997431 | 3:129,179,811 | T/C | — | conflicting classifications of pathogenicity |
| rs951629848 | 3:129,179,814 | C/A | — | pathogenic |
| rs758172067 | 3:129,179,826 | C/T | — | likely benign |
| rs1362422868 | 3:129,179,832 | A/G | — | likely benign |
| rs756919471 | 3:129,179,859 | C/T | — | likely benign |
| rs77395911 | 3:129,179,961 | G/A | — | likely benign |
| rs1183256440 | 3:129,180,055 | G/C | — | likely benign |
| rs569507011 | 3:129,180,089 | A/G | — | likely benign |
| rs767208488 | 3:129,180,097 | C/T | — | uncertain significance |
| rs189625391 | 3:129,180,102 | A/C | — | uncertain significance |
| rs138793724 | 3:129,180,119 | A/G | — | conflicting classifications of pathogenicity |
| rs144031572 | 3:129,180,146 | T/C | — | uncertain significance |
| rs1559869525 | 3:129,180,148 | G/A | — | likely pathogenic |
| rs753626217 | 3:129,180,151 | C/T | — | uncertain significance |
| rs376595844 | 3:129,180,152 | G/A | splice region variant | uncertain significance |
| rs546062386 | 3:129,180,379 | A/C | — | likely benign |
| rs1399786376 | 3:129,182,394 | G/A | — | likely benign |
| rs1300189424 | 3:129,182,409 | G/A | — | pathogenic |
| rs1048830398 | 3:129,182,447 | A/G | — | uncertain significance |
| rs2076406718 | 3:129,182,461 | C/G | — | uncertain significance |
| rs1278478989 | 3:129,182,463 | G/C | — | uncertain significance |
| rs2108101829 | 3:129,182,464 | C/T | — | likely benign |
| rs2108101855 | 3:129,182,471 | T/G | — | likely pathogenic |
| rs141969308 | 3:129,182,481 | T/C | — | likely benign |
| rs887422454 | 3:129,182,482 | C/T | — | likely benign |
| rs773053690 | 3:129,182,486 | C/T | — | likely benign |
| rs147288978 | 3:129,182,487 | G/A | — | likely benign |
| rs55860024 | 3:129,182,588 | T/C | — | benign |
| rs58532641 | 3:129,183,403 | G/T | — | benign |
| rs192128912 | 3:129,183,462 | T/C | — | likely benign |
| rs2076524646 | 3:129,183,472 | A/G | — | likely benign |
| rs772967589 | 3:129,183,505 | G/A | — | likely benign |
| rs2076526332 | 3:129,183,506 | C/T | — | likely benign |
| rs151309730 | 3:129,183,519 | A/G | — | uncertain significance |
| rs2531459130 | 3:129,183,523 | G/A | — | likely benign |
| rs140547512 | 3:129,183,536 | C/T | — | uncertain significance |
| rs759240224 | 3:129,183,537 | G/A | — | uncertain significance |
| rs199886551 | 3:129,183,539 | A/G | — | uncertain significance |
| rs1279604454 | 3:129,183,556 | G/A | — | uncertain significance |
Showing 100 of 658 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.