PHETA1
PH domain containing endocytic trafficking adaptor 1
Summary
This gene encodes a protein that localizes to the endosome and interacts with the enzyme, inositol polyphosphate 5-phosphatase OCRL-1. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Known Variants20 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1025172671 | 12:111,800,516 | C/T | — | uncertain significance |
| rs763529030 | 12:111,800,525 | C/T | — | uncertain significance |
| rs1159799278 | 12:111,800,526 | G/A | — | uncertain significance |
| rs546344753 | 12:111,800,555 | C/T | — | likely benign |
| rs61944368 | 12:111,800,556 | G/A | — | uncertain significance |
| rs564558968 | 12:111,800,570 | A/G | — | uncertain significance |
| rs867723942 | 12:111,800,612 | G/A | — | uncertain significance |
| rs1243405575 | 12:111,800,703 | G/A | — | uncertain significance |
| rs1193004614 | 12:111,800,780 | G/A | — | uncertain significance |
| rs753656978 | 12:111,800,799 | A/G | — | uncertain significance |
| rs1868782704 | 12:111,800,927 | T/C | — | uncertain significance |
| rs766395201 | 12:111,800,966 | C/T | — | uncertain significance |
| rs781116387 | 12:111,800,972 | C/T | — | uncertain significance |
| rs766744190 | 12:111,801,060 | C/T | — | uncertain significance |
| rs1335840502 | 12:111,801,084 | C/T | — | uncertain significance |
| rs768179932 | 12:111,801,096 | G/A | — | uncertain significance |
| rs758075495 | 12:111,801,182 | G/A | — | uncertain significance |
| rs1380140038 | 12:111,801,183 | G/C | — | uncertain significance |
| rs933399 | 12:111,807,499 | G/T | — | — |
| rs181707610 | 12:111,808,742 | C/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.