rs28931604

This is a variant in the CRYGC gene that changes a arginine to an tryptophan.

▶

ClinVar annotation

Pathogenic★☆☆☆

4 submitters6 publications

Cataract 2, multiple types (CTRCT2); Nuclear pulverulent cataract (CTRCT2)

About CRYGC

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]

View all CRYGC variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…