CLSTN1
calsyntenin 1
Summary
This gene is a member of the calsyntenin family, a subset of the cadherin superfamily. The encoded transmembrane protein, also known as alcadein-alpha, is thought to bind to kinesin-1 motors to mediate the axonal anterograde transport of certain types of vesicle. Amyloid precursor protein (APP) is trafficked via these vesicles and so this protein is being investigated to see how it might contribute to the mechanisms underlying Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Known Variants64 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2525307261 | 1:9,790,579 | G/A | — | uncertain significance |
| rs148584143 | 1:9,790,659 | C/G | — | likely benign |
| rs72633874 | 1:9,790,660 | T/C | — | uncertain significance |
| rs768841934 | 1:9,790,697 | C/T | — | uncertain significance |
| rs752952745 | 1:9,791,280 | G/C | — | uncertain significance |
| rs1387125116 | 1:9,791,326 | C/T | — | uncertain significance |
| rs138774376 | 1:9,791,340 | C/T | — | uncertain significance |
| rs202199314 | 1:9,791,355 | T/C | — | uncertain significance |
| rs146135346 | 1:9,791,836 | T/C | — | likely benign |
| rs751301278 | 1:9,791,938 | G/A | — | uncertain significance |
| rs568960167 | 1:9,793,450 | T/C | — | likely benign |
| rs374568789 | 1:9,793,515 | T/G | — | uncertain significance |
| rs754859166 | 1:9,793,535 | G/T | — | uncertain significance |
| rs778793437 | 1:9,793,536 | A/T | — | uncertain significance |
| rs2525326713 | 1:9,793,583 | T/C | — | uncertain significance |
| rs1650519105 | 1:9,793,593 | T/C | — | uncertain significance |
| rs745468008 | 1:9,794,078 | G/C | — | uncertain significance |
| rs144169927 | 1:9,794,171 | C/T | — | uncertain significance |
| rs774347924 | 1:9,794,180 | C/T | — | uncertain significance |
| rs777858203 | 1:9,795,050 | G/A | — | uncertain significance |
| rs1650611849 | 1:9,795,143 | C/T | — | uncertain significance |
| rs765639580 | 1:9,795,197 | G/C | — | uncertain significance |
| rs369749745 | 1:9,795,206 | G/A | — | uncertain significance |
| rs1413603130 | 1:9,795,613 | C/G | — | uncertain significance |
| rs1650640696 | 1:9,795,633 | C/A | — | uncertain significance |
| rs576095743 | 1:9,796,011 | C/T | — | uncertain significance |
| rs147362643 | 1:9,796,029 | C/A | — | uncertain significance |
| rs767722800 | 1:9,796,044 | G/A | — | uncertain significance |
| rs750117820 | 1:9,796,050 | T/C | — | uncertain significance |
| rs148680047 | 1:9,796,064 | T/C | — | uncertain significance |
| rs113936732 | 1:9,798,851 | C/T | — | — |
| rs373410826 | 1:9,801,187 | A/G | — | uncertain significance |
| rs542380649 | 1:9,801,223 | G/A | — | uncertain significance |
| rs139120667 | 1:9,801,233 | C/T | — | likely benign |
| rs141634052 | 1:9,803,994 | G/A | — | uncertain significance |
| rs368470193 | 1:9,804,004 | G/A | — | uncertain significance |
| rs375187320 | 1:9,804,022 | G/A | — | uncertain significance |
| rs760825053 | 1:9,804,059 | C/G | — | uncertain significance |
| rs372662099 | 1:9,804,477 | T/C | — | uncertain significance |
| rs149754530 | 1:9,804,550 | C/T | — | likely benign |
| rs1415513125 | 1:9,804,649 | G/C | — | uncertain significance |
| rs573501912 | 1:9,804,665 | G/A | — | uncertain significance |
| rs199790550 | 1:9,809,561 | C/T | — | uncertain significance |
| rs1312631914 | 1:9,809,596 | A/G | — | uncertain significance |
| rs186712596 | 1:9,809,604 | C/G | — | uncertain significance |
| rs191051279 | 1:9,809,619 | T/C | — | benign |
| rs1480817241 | 1:9,809,624 | C/T | — | uncertain significance |
| rs35261177 | 1:9,809,676 | C/T | — | benign |
| rs754685327 | 1:9,809,902 | T/C | — | uncertain significance |
| rs151087136 | 1:9,809,940 | G/A | — | likely benign |
| rs764413464 | 1:9,809,956 | G/T | — | uncertain significance |
| rs985420517 | 1:9,809,968 | T/A | — | uncertain significance |
| rs769822670 | 1:9,811,579 | T/C | — | uncertain significance |
| rs900152504 | 1:9,811,644 | T/C | — | uncertain significance |
| rs755616693 | 1:9,811,722 | T/C | — | uncertain significance |
| rs752606599 | 1:9,815,274 | T/C | — | uncertain significance |
| rs150592481 | 1:9,815,287 | C/T | — | likely benign |
| rs748558238 | 1:9,815,290 | C/T | — | uncertain significance |
| rs371133484 | 1:9,816,565 | C/T | — | uncertain significance |
| rs116383848 | 1:9,818,064 | G/C | — | — |
| rs1129358 | 1:9,833,335 | A/T | — | benign |
| rs757749011 | 1:9,833,371 | G/T | — | uncertain significance |
| rs1363487449 | 1:9,833,387 | C/A | — | uncertain significance |
| rs748077184 | 1:9,833,396 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.