Variant (rsID / SNP)
rs150516929
rs150516929 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRYAB. Location: chromosome 11, position 111,779,556. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CRYABConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:111779556
- Cytoband
- 11q23.1
- HGVS
- NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser)
- Allele change
- Missense_G154S
Associated conditions / phenotypes
Dilated 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
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.