PCDH11X
protocadherin 11 X-linked
Summary
This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 7 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene is located in a major X/Y block of homology and its Y homolog, despite divergence leading to coding region changes, is the most closely related cadherin family member. The protein is thought to play a fundamental role in cell-cell recognition essential for the segmental development and function of the central nervous system. Disruption of this gene may be associated with developmental dyslexia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Known Variants66 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2524861 | X:91,064,190 | C/A | — | — |
| rs138926050 | X:91,090,513 | T/C | — | benign |
| rs144734965 | X:91,090,515 | G/T | — | uncertain significance |
| rs765860336 | X:91,090,595 | G/A | — | uncertain significance |
| rs759026651 | X:91,090,741 | G/A | — | uncertain significance |
| rs2520352112 | X:91,090,766 | G/T | — | uncertain significance |
| rs2520352215 | X:91,090,775 | T/C | — | uncertain significance |
| rs1308228939 | X:91,090,958 | C/T | — | uncertain significance |
| rs2520353432 | X:91,090,976 | A/G | — | uncertain significance |
| rs766698792 | X:91,131,892 | A/T | — | uncertain significance |
| rs140764964 | X:91,131,957 | A/T | — | conflicting classifications of pathogenicity |
| rs946173895 | X:91,132,015 | C/T | — | uncertain significance |
| rs2521013256 | X:91,132,042 | T/G | — | uncertain significance |
| rs367906861 | X:91,132,250 | A/G | — | likely benign |
| rs188300904 | X:91,132,523 | C/T | — | benign |
| rs1190053024 | X:91,132,895 | C/G | — | uncertain significance |
| rs1939699103 | X:91,132,896 | A/G | — | uncertain significance |
| rs766127385 | X:91,132,897 | A/C | — | uncertain significance |
| rs2521034353 | X:91,133,089 | C/A | — | uncertain significance |
| rs1166071058 | X:91,133,116 | G/A | — | uncertain significance |
| rs1939714013 | X:91,133,197 | G/A | — | likely benign |
| rs145794638 | X:91,133,300 | G/A | — | benign |
| rs2521038933 | X:91,133,334 | A/C | — | uncertain significance |
| rs770234339 | X:91,133,346 | A/G | — | uncertain significance |
| rs771617094 | X:91,133,391 | G/A | — | uncertain significance |
| rs1602413254 | X:91,133,510 | A/G | — | likely benign |
| rs781770086 | X:91,133,518 | A/T | — | likely benign |
| rs140868736 | X:91,133,564 | G/T | — | likely benign |
| rs773471845 | X:91,133,812 | A/G | — | uncertain significance |
| rs146719077 | X:91,133,879 | C/A | — | uncertain significance |
| rs2521055275 | X:91,134,073 | A/G | — | uncertain significance |
| rs141758282 | X:91,134,113 | G/A | — | benign |
| rs771174399 | X:91,134,214 | C/T | — | uncertain significance |
| rs371076730 | X:91,134,239 | C/G | — | likely benign |
| rs200815801 | X:91,134,243 | G/A | — | likely benign |
| rs138111592 | X:91,134,272 | G/A | — | likely benign |
| rs5984894 | X:91,393,737 | A/G | intron variant | — |
| rs2573905 | X:91,402,220 | T/C | intron variant | — |
| rs5941047 | X:91,431,385 | C/A | — | — |
| rs4568761 | X:91,439,067 | C/T | intron variant | — |
| rs201498284 | X:91,456,380 | A/G | — | uncertain significance |
| rs4252205 | X:91,456,393 | G/A | — | benign |
| rs139061770 | X:91,456,400 | C/T | — | likely benign |
| rs375819567 | X:91,518,113 | C/T | — | uncertain significance |
| rs761198202 | X:91,518,135 | C/T | — | uncertain significance |
| rs192290427 | X:91,518,149 | C/T | — | likely benign |
| rs758063721 | X:91,642,819 | G/C | — | uncertain significance |
| rs764386893 | X:91,642,897 | G/A | — | uncertain significance |
| rs376393109 | X:91,642,920 | G/A | — | uncertain significance |
| rs2521330645 | X:91,723,300 | T/C | — | uncertain significance |
| rs7058592 | X:91,864,059 | T/A | — | — |
| rs2522428049 | X:91,873,280 | C/A | — | uncertain significance |
| rs1296973688 | X:91,873,347 | C/T | — | uncertain significance |
| rs1928237493 | X:91,873,475 | G/C | — | uncertain significance |
| rs375029962 | X:91,873,509 | T/C | — | uncertain significance |
| rs3813173 | X:91,873,533 | C/T | — | benign |
| rs765280447 | X:91,873,553 | C/T | — | uncertain significance |
| rs759122238 | X:91,873,686 | T/A | — | uncertain significance |
| rs190051049 | X:91,873,701 | G/A | — | uncertain significance |
| rs1928267743 | X:91,873,749 | G/A | — | uncertain significance |
| rs1254212899 | X:91,873,756 | T/G | — | uncertain significance |
| rs3813174 | X:91,873,778 | G/C | — | benign |
| rs745574714 | X:91,873,810 | C/T | — | likely benign |
| rs768664912 | X:91,873,830 | A/G | — | uncertain significance |
| rs372523830 | X:91,873,844 | T/C | — | uncertain significance |
| rs80336085 | X:91,873,897 | G/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.