ANKRD31
ankyrin repeat domain 31
Summary
This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Mutations in this gene are associated with a Rett syndrome (RTT)-like phenotype. [provided by RefSeq, Apr 2017]
Known Variants122 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs746219814 | 5:74,364,423 | C/T | — | uncertain significance |
| rs1177388264 | 5:74,364,448 | G/T | — | uncertain significance |
| rs2479833104 | 5:74,364,477 | T/C | — | uncertain significance |
| rs760315290 | 5:74,376,427 | G/C | — | uncertain significance |
| rs1056584546 | 5:74,376,433 | T/A | — | uncertain significance |
| rs1350686818 | 5:74,380,190 | G/A | — | uncertain significance |
| rs2479959088 | 5:74,387,117 | C/T | — | uncertain significance |
| rs761768750 | 5:74,400,153 | T/C | — | uncertain significance |
| rs923353155 | 5:74,400,184 | C/G | — | uncertain significance |
| rs748973509 | 5:74,400,205 | T/C | — | uncertain significance |
| rs768237186 | 5:74,400,250 | G/A | — | uncertain significance |
| rs771439799 | 5:74,400,279 | C/T | — | uncertain significance |
| rs1747166310 | 5:74,400,298 | C/T | — | uncertain significance |
| rs893841106 | 5:74,400,336 | T/C | — | uncertain significance |
| rs140882867 | 5:74,400,466 | C/T | — | benign |
| rs903068942 | 5:74,400,508 | T/C | — | uncertain significance |
| rs1475610417 | 5:74,400,520 | G/C | — | uncertain significance |
| rs752446409 | 5:74,400,574 | A/C | — | uncertain significance |
| rs375775783 | 5:74,400,636 | C/T | — | uncertain significance |
| rs915293452 | 5:74,400,666 | T/A | — | uncertain significance |
| rs181179046 | 5:74,400,783 | G/A | — | uncertain significance |
| rs1747211327 | 5:74,400,795 | C/T | — | uncertain significance |
| rs767348382 | 5:74,400,804 | G/A | — | uncertain significance |
| rs1747220370 | 5:74,400,897 | G/A | — | uncertain significance |
| rs569424586 | 5:74,401,030 | A/G | — | uncertain significance |
| rs1445291686 | 5:74,403,425 | T/C | — | uncertain significance |
| rs747267324 | 5:74,408,340 | G/T | — | uncertain significance |
| rs1007636078 | 5:74,408,352 | T/C | — | uncertain significance |
| rs866251112 | 5:74,408,409 | G/A | — | uncertain significance |
| rs371570154 | 5:74,412,411 | A/G | — | uncertain significance |
| rs2480164163 | 5:74,412,437 | G/A | — | uncertain significance |
| rs540695109 | 5:74,412,467 | C/T | — | uncertain significance |
| rs80011569 | 5:74,412,488 | C/T | — | benign |
| rs776341649 | 5:74,412,494 | G/A | — | uncertain significance |
| rs2480166195 | 5:74,412,502 | T/A | — | uncertain significance |
| rs1748448904 | 5:74,413,993 | C/T | — | uncertain significance |
| rs1411544907 | 5:74,414,077 | C/A | — | uncertain significance |
| rs751715157 | 5:74,414,095 | C/T | — | uncertain significance |
| rs756864951 | 5:74,414,106 | A/C | — | uncertain significance |
| rs1748462276 | 5:74,414,119 | C/T | — | uncertain significance |
| rs982279923 | 5:74,433,724 | C/T | — | uncertain significance |
| rs192285141 | 5:74,434,754 | T/C | — | uncertain significance |
| rs775823393 | 5:74,434,763 | C/T | — | uncertain significance |
| rs866492486 | 5:74,436,111 | A/G | — | — |
| rs560286599 | 5:74,441,821 | G/A | — | uncertain significance |
| rs750857441 | 5:74,441,859 | A/T | — | uncertain significance |
| rs1751407642 | 5:74,441,867 | C/G | — | uncertain significance |
| rs528272071 | 5:74,441,877 | C/T | — | likely benign |
| rs2480452517 | 5:74,441,967 | A/G | — | uncertain significance |
| rs772313874 | 5:74,441,982 | G/A | — | likely benign |
| rs775286236 | 5:74,442,049 | T/C | — | uncertain significance |
| rs1321137092 | 5:74,442,175 | C/T | — | uncertain significance |
| rs1029264794 | 5:74,442,249 | G/C | — | uncertain significance |
| rs997191061 | 5:74,442,276 | G/A | — | uncertain significance |
| rs1203609003 | 5:74,442,303 | T/C | — | uncertain significance |
| rs1244635603 | 5:74,442,330 | T/A | — | uncertain significance |
| rs1427795863 | 5:74,442,361 | T/G | — | likely benign |
| rs187449283 | 5:74,442,499 | T/C | — | likely benign |
| rs1371088186 | 5:74,442,534 | T/A | — | uncertain significance |
| rs531649376 | 5:74,442,561 | G/T | — | uncertain significance |
| rs955677400 | 5:74,442,618 | T/C | — | uncertain significance |
| rs573539643 | 5:74,442,701 | T/A | — | likely benign |
| rs548170789 | 5:74,442,795 | T/C | — | uncertain significance |
| rs1561476612 | 5:74,442,848 | A/C | — | uncertain significance |
| rs909472417 | 5:74,442,867 | C/T | — | uncertain significance |
| rs550567797 | 5:74,442,918 | T/G | — | uncertain significance |
| rs1232464455 | 5:74,443,052 | T/C | — | uncertain significance |
| rs533947423 | 5:74,443,059 | T/G | — | uncertain significance |
| rs200736771 | 5:74,443,063 | G/A | — | likely benign |
| rs758443451 | 5:74,443,111 | G/A | — | uncertain significance |
| rs991132931 | 5:74,443,113 | C/T | — | uncertain significance |
| rs985428531 | 5:74,443,124 | T/C | — | uncertain significance |
| rs2480474906 | 5:74,443,170 | G/A | — | uncertain significance |
| rs769278933 | 5:74,443,177 | T/G | — | likely benign |
| rs140313618 | 5:74,443,203 | A/G | — | uncertain significance |
| rs767835850 | 5:74,443,218 | A/G | — | uncertain significance |
| rs1396914000 | 5:74,443,231 | C/T | — | uncertain significance |
| rs866314475 | 5:74,443,239 | C/A | — | uncertain significance |
| rs1340498736 | 5:74,443,276 | T/A | — | uncertain significance |
| rs1035406018 | 5:74,443,317 | C/A | — | uncertain significance |
| rs762395286 | 5:74,444,441 | C/T | — | uncertain significance |
| rs1422101094 | 5:74,450,037 | C/T | — | uncertain significance |
| rs755607372 | 5:74,450,083 | A/G | — | likely benign |
| rs80150067 | 5:74,464,815 | C/T | — | uncertain significance |
| rs185433612 | 5:74,464,817 | T/C | — | uncertain significance |
| rs150791065 | 5:74,464,842 | T/C | — | conflicting classifications of pathogenicity |
| rs2150188446 | 5:74,464,948 | T/C | — | pathogenic |
| rs7707394 | 5:74,472,939 | G/A | intron variant | — |
| rs12514813 | 5:74,476,211 | T/G | intron variant | — |
| rs7341121 | 5:74,476,396 | G/A | intron variant | — |
| rs4704187 | 5:74,480,288 | T/C | intron variant | — |
| rs376837072 | 5:74,484,340 | A/C | — | uncertain significance |
| rs1754891243 | 5:74,484,387 | G/A | — | uncertain significance |
| rs184949434 | 5:74,484,432 | G/A | — | uncertain significance |
| rs753388092 | 5:74,484,453 | T/C | — | uncertain significance |
| rs1271859891 | 5:74,484,462 | C/T | — | likely benign |
| rs192815202 | 5:74,489,173 | C/T | — | uncertain significance |
| rs764661886 | 5:74,489,194 | G/A | — | uncertain significance |
| rs1004027663 | 5:74,489,217 | T/A | — | uncertain significance |
| rs1002774426 | 5:74,489,242 | C/T | — | uncertain significance |
Showing 100 of 122 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.