KIAA0319
KIAA0319
Summary
This gene encodes a transmembrane protein that contains a large extracellular domain with multiple polycystic kidney disease (PKD) domains. The encoded protein may play a role in the development of the cerebral cortex by regulating neuronal migration and cell adhesion. Single nucleotide polymorphisms in this gene are associated with dyslexia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Known Variants92 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs16889440 | 6:24,544,967 | C/G | — | — |
| rs141315468 | 6:24,547,389 | G/A | — | likely benign |
| rs200733699 | 6:24,547,430 | T/C | — | uncertain significance |
| rs567594992 | 6:24,547,527 | A/T | — | uncertain significance |
| rs781434453 | 6:24,547,560 | G/T | — | likely benign |
| rs807534 | 6:24,551,664 | C/T | — | benign |
| rs2532997090 | 6:24,551,668 | T/C | — | uncertain significance |
| rs807535 | 6:24,551,729 | T/C | — | benign |
| rs2243831 | 6:24,554,762 | T/C | — | benign |
| rs755687148 | 6:24,556,859 | T/C | — | uncertain significance |
| rs144175049 | 6:24,556,933 | T/C | — | uncertain significance |
| rs10946705 | 6:24,556,936 | C/G | — | benign |
| rs150584710 | 6:24,559,238 | T/C | — | likely benign |
| rs2533109694 | 6:24,559,280 | C/G | — | uncertain significance |
| rs807541 | 6:24,559,281 | A/G | — | benign |
| rs2533109883 | 6:24,559,285 | T/C | — | uncertain significance |
| rs144337049 | 6:24,563,596 | G/A | — | uncertain significance |
| rs200127424 | 6:24,563,606 | G/A | — | uncertain significance |
| rs201274998 | 6:24,563,639 | C/T | — | uncertain significance |
| rs1181949451 | 6:24,563,701 | A/G | — | uncertain significance |
| rs764277942 | 6:24,563,720 | G/C | — | uncertain significance |
| rs2533167397 | 6:24,563,731 | C/T | — | uncertain significance |
| rs764238150 | 6:24,564,465 | G/A | — | uncertain significance |
| rs2533180454 | 6:24,564,477 | C/T | — | uncertain significance |
| rs114115478 | 6:24,566,428 | C/T | intron variant | — |
| rs747049371 | 6:24,566,863 | A/G | — | uncertain significance |
| rs2533212326 | 6:24,566,874 | C/A | — | uncertain significance |
| rs542390700 | 6:24,566,905 | A/T | — | uncertain significance |
| rs528319780 | 6:24,566,946 | C/T | — | uncertain significance |
| rs865780706 | 6:24,566,952 | C/T | — | likely benign |
| rs113411083 | 6:24,566,953 | G/A | — | likely benign |
| rs939178161 | 6:24,566,964 | G/T | — | uncertain significance |
| rs12193738 | 6:24,568,393 | T/C | intron variant | — |
| rs138160539 | 6:24,569,041 | C/T | — | likely benign |
| rs41271797 | 6:24,570,151 | G/A | — | likely benign |
| rs146550659 | 6:24,572,893 | T/C | — | uncertain significance |
| rs150824948 | 6:24,576,601 | T/G | — | uncertain significance |
| rs1765535843 | 6:24,576,694 | T/C | — | uncertain significance |
| rs774771729 | 6:24,576,699 | T/A | — | uncertain significance |
| rs80020211 | 6:24,576,771 | A/T | — | uncertain significance |
| rs75720688 | 6:24,576,785 | T/C | — | benign |
| rs143003901 | 6:24,576,807 | G/A | — | uncertain significance |
| rs2533331331 | 6:24,576,814 | T/C | — | uncertain significance |
| rs770284155 | 6:24,578,410 | A/G | — | uncertain significance |
| rs1436669953 | 6:24,578,447 | C/T | — | uncertain significance |
| rs114195393 | 6:24,580,097 | A/G | — | benign |
| rs558979689 | 6:24,580,104 | C/G | — | uncertain significance |
| rs767248792 | 6:24,580,126 | C/T | — | likely benign |
| rs112684386 | 6:24,580,544 | C/A | intron variant | — |
| rs758836206 | 6:24,581,163 | C/T | — | uncertain significance |
| rs764767204 | 6:24,581,170 | A/C | — | uncertain significance |
| rs1470502810 | 6:24,581,187 | C/T | — | uncertain significance |
| rs771990750 | 6:24,581,214 | C/T | — | uncertain significance |
| rs757189388 | 6:24,582,481 | G/C | — | uncertain significance |
| rs2533407831 | 6:24,582,502 | T/C | — | uncertain significance |
| rs111771292 | 6:24,582,988 | A/C | intron variant | — |
| rs1174814764 | 6:24,583,843 | G/A | — | uncertain significance |
| rs541625855 | 6:24,583,850 | C/T | — | uncertain significance |
| rs141038527 | 6:24,583,859 | C/T | — | likely benign |
| rs200254558 | 6:24,583,881 | G/A | — | likely benign |
| rs1731874885 | 6:24,583,894 | A/G | — | uncertain significance |
| rs144797054 | 6:24,583,918 | G/A | — | likely benign |
| rs115065904 | 6:24,585,063 | A/G | intron variant | — |
| rs757281652 | 6:24,588,838 | G/T | — | uncertain significance |
| rs4504469 | 6:24,588,884 | C/T | missense variant | benign |
| rs754330222 | 6:24,588,931 | A/T | — | uncertain significance |
| rs200499407 | 6:24,588,956 | C/T | — | uncertain significance |
| rs767707185 | 6:24,588,985 | G/A | — | uncertain significance |
| rs117692893 | 6:24,596,112 | A/T | — | benign |
| rs750031443 | 6:24,596,130 | C/G | — | uncertain significance |
| rs1562025047 | 6:24,596,208 | T/C | — | uncertain significance |
| rs146508644 | 6:24,596,276 | G/A | — | uncertain significance |
| rs141114963 | 6:24,596,282 | G/A | — | uncertain significance |
| rs762046682 | 6:24,596,315 | T/C | — | uncertain significance |
| rs138139227 | 6:24,596,361 | C/T | — | likely benign |
| rs4576240 | 6:24,596,478 | T/G | missense variant | benign |
| rs762607005 | 6:24,596,522 | G/A | — | uncertain significance |
| rs75674723 | 6:24,596,536 | G/A | — | benign |
| rs1419862823 | 6:24,596,550 | C/A | — | uncertain significance |
| rs150735878 | 6:24,596,588 | C/T | — | uncertain significance |
| rs374371675 | 6:24,596,589 | G/A | — | uncertain significance |
| rs773915739 | 6:24,596,618 | G/C | — | uncertain significance |
| rs1374279170 | 6:24,596,649 | T/C | — | uncertain significance |
| rs201302072 | 6:24,596,675 | C/T | — | likely benign |
| rs766972047 | 6:24,600,879 | C/A | — | likely benign |
| rs4352670 | 6:24,604,068 | C/A | downstream gene variant | — |
| rs4236032 | 6:24,606,727 | G/C | — | — |
| rs761100 | 6:24,632,642 | A/T | — | — |
| rs145298709 | 6:24,634,846 | T/C | intron variant | — |
| rs6935076 | 6:24,644,322 | C/T | regulatory region variant | — |
| rs2038137 | 6:24,645,943 | T/G | regulatory region variant | — |
| rs3756821 | 6:24,646,821 | C/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.