CRYGC
crystallin gamma C
Summary
This gene encodes a member of the beta/gamma-crystallin family of proteins. Crystallins constitute the major proteins of vertebrate eye lens and maintain the transparency and refractive index of the lens. This gene and several family members are present in a gene cluster on chromosome 2. Mutations in this gene have been shown to cause multiple types of cataract, including Coppock-like cataract and zonular pulverulent cataract, among others. [provided by RefSeq, Jan 2015]
Known Variants71 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs6745872 | 2:208,992,637 | A/G | — | likely benign |
| rs62192855 | 2:208,992,771 | A/G | — | benign |
| rs745925773 | 2:208,992,918 | T/G | — | likely benign |
| rs28931604 | 2:208,992,950 | G/A | missense variant | pathogenic |
| rs587778872 | 2:208,992,955 | G/A | missense variant | pathogenic |
| rs1436990199 | 2:208,992,961 | G/A | — | uncertain significance |
| rs569637792 | 2:208,992,973 | A/G | — | uncertain significance |
| rs398122944 | 2:208,992,981 | C/T | stop gained | pathogenic |
| rs398122392 | 2:208,992,982 | C/T | stop gained | pathogenic |
| rs756143605 | 2:208,992,994 | C/T | — | uncertain significance |
| rs368875725 | 2:208,993,002 | C/A | — | uncertain significance |
| rs1559320516 | 2:208,993,020 | G/C | — | pathogenic |
| rs1131691550 | 2:208,993,025 | G/A | — | pathogenic |
| rs141474796 | 2:208,993,028 | G/C | — | likely pathogenic |
| rs757589647 | 2:208,993,039 | T/C | — | uncertain significance |
| rs750872744 | 2:208,993,049 | C/A | stop gained | pathogenic |
| rs200505176 | 2:208,993,050 | G/C | — | conflicting classifications of pathogenicity |
| rs137853924 | 2:208,993,067 | C/A | missense variant | pathogenic |
| rs544008612 | 2:208,993,087 | C/T | — | uncertain significance |
| rs368393196 | 2:208,993,088 | G/A | — | benign |
| rs61736036 | 2:208,993,095 | G/A | — | likely benign |
| rs530871884 | 2:208,993,108 | C/T | — | uncertain significance |
| rs149859061 | 2:208,993,135 | C/T | — | likely benign |
| rs756540358 | 2:208,993,148 | T/C | — | uncertain significance |
| rs1347592139 | 2:208,993,153 | C/A | — | uncertain significance |
| rs200572745 | 2:208,993,172 | C/T | — | uncertain significance |
| rs368884426 | 2:208,993,180 | C/T | — | uncertain significance |
| rs140120148 | 2:208,993,181 | G/A | — | likely benign |
| rs761447168 | 2:208,993,194 | G/A | — | likely benign |
| rs150910237 | 2:208,993,196 | C/A | — | likely benign |
| rs754304396 | 2:208,993,206 | G/A | — | likely benign |
| rs80188786 | 2:208,993,291 | T/G | — | likely benign |
| rs3820906 | 2:208,993,830 | G/A | — | benign |
| rs76717720 | 2:208,993,948 | T/C | — | likely benign |
| rs74855837 | 2:208,993,974 | G/A | — | likely benign |
| rs74826452 | 2:208,994,030 | A/G | — | likely benign |
| rs2242073 | 2:208,994,045 | T/G | upstream gene variant | benign |
| rs751761618 | 2:208,994,169 | G/A | — | uncertain significance |
| rs201699850 | 2:208,994,187 | C/T | — | uncertain significance |
| rs746609116 | 2:208,994,188 | G/A | — | uncertain significance |
| rs770559969 | 2:208,994,197 | C/T | — | uncertain significance |
| rs1574551119 | 2:208,994,205 | C/A | — | uncertain significance |
| rs149880539 | 2:208,994,241 | C/T | — | uncertain significance |
| rs1175567601 | 2:208,994,248 | A/C | — | uncertain significance |
| rs144295934 | 2:208,994,253 | T/C | — | conflicting classifications of pathogenicity |
| rs1553585708 | 2:208,994,262 | T/G | — | uncertain significance |
| rs777748323 | 2:208,994,265 | T/C | — | conflicting classifications of pathogenicity |
| rs746520767 | 2:208,994,268 | T/C | — | uncertain significance |
| rs1351742978 | 2:208,994,272 | G/T | — | uncertain significance |
| rs61751949 | 2:208,994,274 | C/T | — | benign |
| rs201568695 | 2:208,994,275 | G/A | — | uncertain significance |
| rs769985760 | 2:208,994,280 | T/C | — | uncertain significance |
| rs1437464751 | 2:208,994,282 | G/C | — | likely benign |
| rs1695062508 | 2:208,994,292 | C/T | — | uncertain significance |
| rs200511472 | 2:208,994,293 | A/G | — | uncertain significance |
| rs115828074 | 2:208,994,294 | G/A | — | benign |
| rs559463428 | 2:208,994,296 | C/T | — | uncertain significance |
| rs184571576 | 2:208,994,297 | G/A | — | benign |
| rs752526840 | 2:208,994,320 | A/G | — | uncertain significance |
| rs142890808 | 2:208,994,333 | C/T | — | benign |
| rs546890057 | 2:208,994,362 | T/C | — | conflicting classifications of pathogenicity |
| rs145041511 | 2:208,994,365 | C/T | — | uncertain significance |
| rs372921291 | 2:208,994,373 | C/T | — | uncertain significance |
| rs533923837 | 2:208,994,384 | G/A | — | benign |
| rs104893618 | 2:208,994,404 | T/G | missense variant | pathogenic |
| rs1299475960 | 2:208,994,408 | C/T | — | uncertain significance |
| rs199901300 | 2:208,994,417 | A/G | — | benign |
| rs367944766 | 2:208,994,421 | A/G | — | benign |
| rs2242071 | 2:208,994,697 | C/T | — | benign |
| rs13392731 | 2:208,994,849 | T/C | — | benign |
| rs182006020 | 2:208,995,966 | G/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.