Cataract Congenital Cerulean, Type 3
OMIM:608983Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | CRYGD |
|---|---|
| Reference transcript | NM_006891.3 |
| DNA Change | c.70C>A |
| A.A. Change | p.Pro24Thr |
| Exon/Intron | exon 2 |
| Mutation Type | substitution |
| Reference | Nandrot E, Slingsby C, Basak A, Cherif-Chefchaouni M, Benazzouz B, Hajaji Y, Boutayeb S, Gribouval O, Arbogast L, Berraho A, Abitbol M, Hilal L.Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts. J Med Genet. 2003 Apr;40(4):262-7. |