PCDH1
protocadherin 1
Summary
This gene belongs to the protocadherin subfamily within the cadherin superfamily. The encoded protein is a membrane protein found at cell-cell boundaries. It is involved in neural cell adhesion, suggesting a possible role in neuronal development. The protein includes an extracelllular region, containing 7 cadherin-like domains, a transmembrane region and a C-terminal cytoplasmic region. Cells expressing the protein showed cell aggregation activity. Alternative splicing occurs in this gene. [provided by RefSeq, Jul 2008]
Known Variants66 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs140762113 | 5:141,233,632 | G/A | — | uncertain significance |
| rs372776472 | 5:141,233,675 | T/C | — | uncertain significance |
| rs774538904 | 5:141,233,776 | G/A | — | uncertain significance |
| rs2532265488 | 5:141,233,778 | T/G | — | uncertain significance |
| rs767636294 | 5:141,233,788 | C/T | — | uncertain significance |
| rs145557825 | 5:141,233,797 | G/C | — | uncertain significance |
| rs749134415 | 5:141,233,813 | C/T | — | uncertain significance |
| rs752293984 | 5:141,233,890 | C/A | — | uncertain significance |
| rs75207818 | 5:141,233,971 | G/A | — | likely benign |
| rs763781259 | 5:141,236,827 | G/T | — | uncertain significance |
| rs1415892100 | 5:141,236,870 | T/C | — | uncertain significance |
| rs150549281 | 5:141,237,416 | C/T | intron variant | — |
| rs368562035 | 5:141,242,816 | G/A | — | uncertain significance |
| rs766854307 | 5:141,242,849 | T/A | — | uncertain significance |
| rs369689993 | 5:141,243,336 | G/A | — | uncertain significance |
| rs576196969 | 5:141,243,441 | G/A | — | uncertain significance |
| rs2126815086 | 5:141,243,454 | C/A | — | uncertain significance |
| rs538786315 | 5:141,243,498 | G/A | — | uncertain significance |
| rs149389126 | 5:141,243,506 | C/T | — | uncertain significance |
| rs370805685 | 5:141,243,692 | G/A | — | uncertain significance |
| rs1404271979 | 5:141,243,809 | G/A | — | uncertain significance |
| rs368667075 | 5:141,243,952 | C/G | — | uncertain significance |
| rs371172915 | 5:141,243,954 | G/T | — | uncertain significance |
| rs2532310351 | 5:141,244,019 | G/A | — | uncertain significance |
| rs149703720 | 5:141,244,093 | A/C | — | conflicting classifications of pathogenicity |
| rs2532311699 | 5:141,244,160 | T/G | — | uncertain significance |
| rs369563536 | 5:141,244,168 | C/G | — | likely benign |
| rs2532312062 | 5:141,244,193 | G/A | — | uncertain significance |
| rs770146209 | 5:141,244,250 | G/A | — | uncertain significance |
| rs372512626 | 5:141,244,335 | G/C | — | uncertain significance |
| rs1752743043 | 5:141,244,341 | T/C | — | uncertain significance |
| rs376948396 | 5:141,244,359 | C/A | — | uncertain significance |
| rs2532314268 | 5:141,244,407 | C/T | — | uncertain significance |
| rs1270453151 | 5:141,244,584 | C/T | — | uncertain significance |
| rs780677775 | 5:141,244,676 | T/C | — | uncertain significance |
| rs2532316891 | 5:141,244,704 | G/T | — | uncertain significance |
| rs200925077 | 5:141,244,767 | C/T | — | uncertain significance |
| rs775247517 | 5:141,244,779 | C/T | — | uncertain significance |
| rs2532317525 | 5:141,244,785 | C/A | — | uncertain significance |
| rs200086291 | 5:141,244,811 | C/T | — | uncertain significance |
| rs146837198 | 5:141,244,850 | T/C | — | uncertain significance |
| rs2532318530 | 5:141,244,911 | G/A | — | uncertain significance |
| rs777850372 | 5:141,244,922 | A/C | — | uncertain significance |
| rs374705686 | 5:141,244,931 | G/A | — | uncertain significance |
| rs746802325 | 5:141,244,933 | C/G | — | uncertain significance |
| rs200438003 | 5:141,244,992 | C/T | — | uncertain significance |
| rs766686322 | 5:141,248,161 | A/C | — | uncertain significance |
| rs201502657 | 5:141,248,208 | C/T | — | uncertain significance |
| rs746686590 | 5:141,248,237 | C/T | — | uncertain significance |
| rs139217153 | 5:141,248,238 | G/T | — | uncertain significance |
| rs989994247 | 5:141,248,327 | T/G | — | uncertain significance |
| rs752422297 | 5:141,248,468 | G/A | — | uncertain significance |
| rs766283966 | 5:141,248,556 | T/C | — | uncertain significance |
| rs1275471871 | 5:141,248,647 | A/T | — | likely benign |
| rs1366429431 | 5:141,248,676 | G/A | — | uncertain significance |
| rs1753000062 | 5:141,248,684 | T/C | — | likely pathogenic |
| rs2532337676 | 5:141,248,730 | C/A | — | uncertain significance |
| rs2532337970 | 5:141,248,781 | C/T | — | uncertain significance |
| rs781258463 | 5:141,248,805 | C/T | — | uncertain significance |
| rs538908747 | 5:141,248,930 | C/T | — | uncertain significance |
| rs772869932 | 5:141,248,931 | G/A | — | uncertain significance |
| rs1329535000 | 5:141,248,942 | G/T | — | uncertain significance |
| rs12517385 | 5:141,248,994 | A/G | — | benign |
| rs113868368 | 5:141,256,677 | C/T | regulatory region variant | — |
| rs866633155 | 5:141,257,818 | C/A | — | uncertain significance |
| rs918064256 | 5:141,257,820 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.