VTA1
vesicle trafficking 1
Summary
C6ORF55 encodes a protein involved in trafficking of the multivesicular body, an endosomal compartment involved in sorting membrane proteins for degradation in lysosomes (Ward et al., 2005 [PubMed 15644320]).[supplied by OMIM, Mar 2008]
Known Variants21 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1171806290 | 6:142,468,437 | G/A | — | uncertain significance |
| rs2482425695 | 6:142,468,476 | C/T | — | likely pathogenic |
| rs225644 | 6:142,482,215 | T/C | — | — |
| rs225647 | 6:142,483,643 | A/G | — | — |
| rs757393774 | 6:142,487,401 | A/G | — | uncertain significance |
| rs750350264 | 6:142,487,412 | C/T | — | uncertain significance |
| rs779841639 | 6:142,487,421 | C/T | — | uncertain significance |
| rs542577369 | 6:142,487,422 | G/A | — | uncertain significance |
| rs1774988596 | 6:142,490,697 | A/G | — | uncertain significance |
| rs2232302 | 6:142,490,796 | G/A | — | uncertain significance |
| rs1775005744 | 6:142,491,511 | A/C | — | uncertain significance |
| rs775354985 | 6:142,491,529 | A/G | — | uncertain significance |
| rs779033438 | 6:142,510,609 | A/G | — | uncertain significance |
| rs225675 | 6:142,512,136 | A/G | intron variant | — |
| rs534195199 | 6:142,519,615 | C/G | — | uncertain significance |
| rs757129015 | 6:142,525,140 | T/C | — | uncertain significance |
| rs143729861 | 6:142,525,178 | G/T | — | uncertain significance |
| rs225694 | 6:142,527,142 | A/G | intron variant | — |
| rs761965191 | 6:142,539,643 | C/T | — | uncertain significance |
| rs766034868 | 6:142,539,656 | A/T | — | uncertain significance |
| rs762016322 | 6:142,539,764 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.