Variant: rs104894201 

    present in Gene: CRYAB
    present in Chromosome: 11
    Position on Chromosome: 111908934
    Alleles of this Variant: T/C

rs104894201 in CRYAB gene and Alpha-B Crystallinopathy PMID 21920752 2012 A novel CRYAB mutation resulting in multisystemic disease.

PMID 12601044 2003 Alteration of protein-protein interactions of congenital cataract crystallin mutants.

PMID 14681890 2003 Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations.

PMID 9731540 1998 A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy.