LGSN
lengsin, lens protein with glutamine synthetase domain
Summary
This gene encodes a protein with similarity to the GS I members of the glutamine synthetase superfamily. The encoded protein is referred to as a pseudo-glutamine synthetase because it has no glutamine synthesis activity and may function as a chaperone protein. This protein is localized to the lens and may be associated with cataract disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]
Known Variants41 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs977743643 | 6:63,989,931 | T/C | — | uncertain significance |
| rs977577171 | 6:63,989,945 | A/T | — | uncertain significance |
| rs745357482 | 6:63,989,979 | C/G | — | uncertain significance |
| rs916438780 | 6:63,990,033 | C/G | — | uncertain significance |
| rs201490688 | 6:63,990,111 | G/C | — | uncertain significance |
| rs2533167406 | 6:63,990,116 | A/G | — | uncertain significance |
| rs35039535 | 6:63,990,131 | T/C | — | benign |
| rs752845847 | 6:63,990,191 | G/A | — | uncertain significance |
| rs199883532 | 6:63,990,245 | C/T | — | uncertain significance |
| rs2533168182 | 6:63,990,273 | T/C | — | uncertain significance |
| rs574022940 | 6:63,990,304 | C/G | — | uncertain significance |
| rs139295115 | 6:63,990,359 | C/T | — | uncertain significance |
| rs755451131 | 6:63,990,371 | G/A | — | uncertain significance |
| rs372668010 | 6:63,990,443 | G/A | — | uncertain significance |
| rs868397445 | 6:63,990,445 | G/A | — | likely benign |
| rs142740065 | 6:63,990,458 | C/T | — | uncertain significance |
| rs201983182 | 6:63,990,545 | A/G | — | uncertain significance |
| rs373203545 | 6:63,990,691 | C/A | — | uncertain significance |
| rs367925464 | 6:63,990,723 | C/T | — | uncertain significance |
| rs752443943 | 6:63,990,753 | G/C | — | uncertain significance |
| rs755690341 | 6:63,990,758 | T/C | — | uncertain significance |
| rs2533171194 | 6:63,990,780 | A/T | — | uncertain significance |
| rs1319737388 | 6:63,990,816 | C/T | — | uncertain significance |
| rs760431432 | 6:63,990,824 | C/T | — | uncertain significance |
| rs763595908 | 6:63,990,829 | A/C | — | uncertain significance |
| rs147959896 | 6:63,990,833 | T/C | — | likely benign |
| rs1412795955 | 6:63,990,963 | T/C | — | uncertain significance |
| rs1562003451 | 6:63,991,000 | C/A | — | uncertain significance |
| rs2533172607 | 6:63,991,041 | T/C | — | uncertain significance |
| rs756416014 | 6:63,991,098 | G/A | — | uncertain significance |
| rs368818076 | 6:63,995,533 | C/T | — | uncertain significance |
| rs148449765 | 6:63,995,542 | C/A | — | uncertain significance |
| rs768655477 | 6:64,004,929 | T/C | — | uncertain significance |
| rs9352774 | 6:64,014,812 | A/C | intron variant | — |
| rs10738006 | 6:64,148,664 | C/A | — | — |
| rs7742595 | 6:64,161,733 | C/T | intergenic variant | — |
| rs145931332 | 6:64,164,854 | C/A | — | — |
| rs9449312 | 6:64,169,534 | A/G | — | — |
| rs12213364 | 6:64,184,964 | T/C | intergenic variant | — |
| rs2622276 | 6:64,190,278 | A/G | coding sequence variant | — |
| rs2800049 | 6:64,202,689 | A/T | intergenic variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.