CRYGC Chromosome 2
Crystallin gamma C
Upload your DNA to see your personal genotypes for variants in CRYGC.
What This Gene Does
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]
Gene Info
Gene Group
Beta-gamma crystallins
Locus Type
gene with protein product
Location
2q33.3
Ensembl
ENSG00000163254
Associated Conditions (7)
Inborn genetic diseases
Nuclear pulverulent cataract
Cataract 2
multiple types
CRYGC-related disorder
Coppock-like
Developmental cataract
Key Variants
RS144295934
Conflicting classifications of pathogenicity
Inborn genetic diseases, Nuclear pulverulent cataract, Inborn genetic diseases
Health Risk
RS200505176
Conflicting classifications of pathogenicity
Nuclear pulverulent cataract, Nuclear pulverulent cataract
Health Risk
RS28931604
Conflicting classifications of pathogenicity
Cataract 2, multiple types, Nuclear pulverulent cataract
Health Risk
RS546890057
Conflicting classifications of pathogenicity
Nuclear pulverulent cataract, Inborn genetic diseases, Nuclear pulverulent cataract
Health Risk
RS777748323
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141474796
Likely pathogenic
Health Risk
RS1559320516
Likely pathogenic
CRYGC-related disorder, CRYGC-related disorder
Health Risk
RS2105857887
Likely pathogenic
Nuclear pulverulent cataract, Nuclear pulverulent cataract
Health Risk
RS2468835044
Likely pathogenic
Nuclear pulverulent cataract, Nuclear pulverulent cataract
Health Risk
RS750872744
Likely pathogenic
Health Risk
RS104893618
Pathogenic
Cataract 2, Coppock-like, Nuclear pulverulent cataract
Health Risk
RS1131691550
Pathogenic
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144295934 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Nuclear pulverulent cataract, Inborn genetic diseases |
| RS200505176 | Health Risk | Conflicting classifications of pathogenicity | Nuclear pulverulent cataract, Nuclear pulverulent cataract |
| RS28931604 | Health Risk | Conflicting classifications of pathogenicity | Cataract 2, multiple types, Nuclear pulverulent cataract |
| RS546890057 | Health Risk | Conflicting classifications of pathogenicity | Nuclear pulverulent cataract, Inborn genetic diseases, Nuclear pulverulent cataract |
| RS777748323 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS141474796 | Health Risk | Likely pathogenic | — |
| RS1559320516 | Health Risk | Likely pathogenic | CRYGC-related disorder, CRYGC-related disorder |
| RS2105857887 | Health Risk | Likely pathogenic | Nuclear pulverulent cataract, Nuclear pulverulent cataract |
| RS2468835044 | Health Risk | Likely pathogenic | Nuclear pulverulent cataract, Nuclear pulverulent cataract |
| RS750872744 | Health Risk | Likely pathogenic | — |
| RS104893618 | Health Risk | Pathogenic | Cataract 2, Coppock-like, Nuclear pulverulent cataract |
| RS1131691550 | Health Risk | Pathogenic | — |
| RS137853924 | Health Risk | Pathogenic | Cataract 2, multiple types, Cataract 2 |
| RS1553585262 | Health Risk | Pathogenic | Nuclear pulverulent cataract, Cataract 2, multiple types |
| RS2105857780 | Health Risk | Pathogenic | — |
| RS2105857860 | Health Risk | Pathogenic | — |
| RS2105857937 | Health Risk | Pathogenic | Cataract 2, multiple types, Cataract 2 |
| RS2468835222 | Health Risk | Pathogenic | Cataract 2, multiple types, Cataract 2 |
| RS398122944 | Health Risk | Pathogenic | Cataract 2, multiple types, Cataract 2 |
| RS587778872 | Health Risk | Pathogenic | Developmental cataract, Cataract 2, multiple types |
| RS864309689 | Health Risk | Pathogenic | Developmental cataract, Developmental cataract |
| RS398122392 | Health Risk | Pathogenic/Likely pathogenic | Cataract 2, multiple types, Inborn genetic diseases |