Gene entry
CRYAB
crystallin alpha B
- Chromosome
- 11
- Cytoband
- 11q23.1
- Variants (rsID)
- 8
CRYAB is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11q23.1). Its official name is “crystallin alpha B”. The reference table lists 8 variants (rsID) for this gene.
Clinically classified variants
6 reference-table entries with clinical significance.
- rs149787233Conflicting interpretationssingle nucleotide variantCataract 16 multiple types|Fatal infantile hypertonic myofibrillar myopathy|Myofibrillar myopathy 2|Cardiovascular phenotype|Dilated cardiomyopathy 1II
- rs150516929Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1II|Primary familial hypertrophic cardiomyopathy|Developmental cataract|Cataract 16 multiple types|Myofibrillar Myopathy, Dominant|Fatal infantile hypertonic myofibrillar myopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy|Congestive heart failure|Cardiomyopathy
- rs202024436Conflicting interpretationssingle nucleotide variantCardiomyopathy|Dilated cardiomyopathy 1II
- rs2234704Conflicting interpretationssingle nucleotide variantFatal infantile hypertonic myofibrillar myopathy|Myofibrillar myopathy 2|Cataract 16 multiple types|Cardiovascular phenotype|Cardiomyopathy|Dilated cardiomyopathy 1II
- rs281865142PathogenicDeletionMyofibrillar myopathy 2|Dilated cardiomyopathy 1II
- rs141638421Uncertain significancesingle nucleotide variantDilated cardiomyopathy 1II
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.