CLVS2
clavesin 2
Summary
This gene encodes a protein that belongs to the SEC14/CRAL-TRIO family of proteins. A similar protein in rat is thought to function in the endosomal pathway between early endosomes and mature lysosomes. [provided by RefSeq, Aug 2013]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1176656472 | 6:123,318,948 | C/G | — | uncertain significance |
| rs1419990746 | 6:123,319,064 | C/T | — | uncertain significance |
| rs1415431298 | 6:123,319,175 | A/C | — | uncertain significance |
| rs11154134 | 6:123,320,778 | A/G | intron variant | — |
| rs182283810 | 6:123,324,994 | A/G | intron variant | — |
| rs2534529089 | 6:123,332,156 | C/G | — | uncertain significance |
| rs763406760 | 6:123,332,247 | C/G | — | uncertain significance |
| rs2534529405 | 6:123,332,278 | C/A | — | uncertain significance |
| rs193014692 | 6:123,343,272 | T/G | intron variant | — |
| rs369441088 | 6:123,369,781 | G/A | — | likely benign |
| rs1772558595 | 6:123,369,836 | A/T | — | uncertain significance |
| rs774528339 | 6:123,369,845 | C/T | — | uncertain significance |
| rs751775763 | 6:123,376,996 | C/A | — | uncertain significance |
| rs1390592246 | 6:123,377,123 | T/C | — | uncertain significance |
| rs768633966 | 6:123,377,137 | G/A | — | uncertain significance |
| rs140277962 | 6:123,384,869 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.