Variant: rs1114167341 

    present in Gene: CRYAB
    present in Chromosome: 11
    Position on Chromosome: 111908966
    Alleles of this Variant: T/C

rs1114167341 in CRYAB gene and CARDIOMYOPATHY, DILATED, 1II PMID 26627873 2016 Targeted next-generation sequencing assay for detection of mutations in primary myopathies.

PMID 28493373 2017 The novel αB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy.

PMID 21920752 2012 A novel CRYAB mutation resulting in multisystemic disease.

PMID 23194663 2013 Mutants of human αB-crystallin cause enhanced protein aggregation and apoptosis in mammalian cells: influence of co-expression of HspB1.