TMEM230
transmembrane protein 230
Summary
This gene encodes a multi-pass transmembrane protein that belongs to the TMEM134/TMEM230 protein family. The encoded protein localizes to secretory and recycling vesicle in the neuron and may be involved in synaptic vesicles trafficking and recycling. Mutations in this gene may be linked to familial Parkinson's disease. [provided by RefSeq, Mar 2017]
Known Variants50 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs148412505 | 20:5,049,926 | T/G | — | likely benign |
| rs141618836 | 20:5,049,976 | C/T | — | likely benign |
| rs112194166 | 20:5,056,567 | T/C | intergenic variant | — |
| rs6053100 | 20:5,069,764 | C/T | intergenic variant | — |
| rs6076775 | 20:5,077,414 | C/T | — | — |
| rs11549113 | 20:5,081,477 | C/T | — | uncertain significance |
| rs143571424 | 20:5,081,478 | G/A | — | benign |
| rs1325466322 | 20:5,081,489 | G/A | — | uncertain significance |
| rs770949228 | 20:5,081,503 | G/A | — | likely benign |
| rs1568498318 | 20:5,081,507 | C/A | — | uncertain significance |
| rs745778360 | 20:5,081,508 | G/C | — | uncertain significance |
| rs1555773521 | 20:5,081,538 | G/C | — | uncertain significance |
| rs764786986 | 20:5,081,567 | C/A | — | pathogenic |
| rs569741616 | 20:5,081,568 | G/T | — | likely benign |
| rs2089831444 | 20:5,081,574 | C/G | — | uncertain significance |
| rs374390830 | 20:5,081,592 | A/C | — | likely benign |
| rs41282108 | 20:5,081,748 | C/G | — | benign |
| rs371403632 | 20:5,086,824 | G/A | — | likely benign |
| rs2515007442 | 20:5,086,848 | A/G | — | uncertain significance |
| rs2515007854 | 20:5,086,867 | G/A | — | uncertain significance |
| rs148033002 | 20:5,086,870 | T/C | — | benign |
| rs751176075 | 20:5,086,871 | A/G | — | uncertain significance |
| rs780164928 | 20:5,086,887 | C/T | — | conflicting classifications of pathogenicity |
| rs193920937 | 20:5,086,904 | A/G | — | uncertain significance |
| rs374402629 | 20:5,086,906 | A/C | — | likely benign |
| rs6107576 | 20:5,086,915 | T/C | — | benign |
| rs147693982 | 20:5,086,918 | G/A | — | benign |
| rs377123864 | 20:5,086,921 | G/T | — | likely benign |
| rs2090089157 | 20:5,086,926 | T/C | — | uncertain significance |
| rs139824737 | 20:5,086,935 | T/G | — | uncertain significance |
| rs763383477 | 20:5,086,936 | C/T | — | likely benign |
| rs6116651 | 20:5,086,939 | A/T | — | benign |
| rs749998097 | 20:5,086,969 | T/C | — | likely benign |
| rs761361465 | 20:5,089,998 | C/T | — | uncertain significance |
| rs150715254 | 20:5,089,999 | G/C | — | uncertain significance |
| rs1411906884 | 20:5,090,009 | G/A | — | uncertain significance |
| rs752530360 | 20:5,090,041 | G/A | — | likely benign |
| rs780460399 | 20:5,090,063 | C/T | — | uncertain significance |
| rs769090802 | 20:5,090,068 | C/T | — | likely benign |
| rs141394228 | 20:5,090,075 | A/G | — | likely benign |
| rs149904653 | 20:5,090,081 | C/T | — | uncertain significance |
| rs145815993 | 20:5,090,082 | G/A | — | conflicting classifications of pathogenicity |
| rs997199938 | 20:5,090,095 | C/T | — | likely benign |
| rs201160722 | 20:5,093,630 | G/C | — | uncertain significance |
| rs761517338 | 20:5,093,646 | C/T | — | likely benign |
| rs1430270730 | 20:5,093,647 | C/T | — | uncertain significance |
| rs1434845879 | 20:5,093,659 | G/A | — | likely benign |
| rs1214672730 | 20:5,093,669 | T/C | — | likely benign |
| rs749013319 | 20:5,093,672 | C/T | — | uncertain significance |
| rs768390203 | 20:5,093,674 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.