Variant (rsID / SNP)
rs281865142
rs281865142 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRYAB. Location: chromosome 11, position 111,779,673. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
CRYABPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Deletion
- Chromosome / position
- 11:111779673
- Cytoband
- 11q23.1
- HGVS
- NM_001289808.2(CRYAB):c.343del (p.Ser115fs)
Associated conditions / phenotypes
Myofibrillar myopathy 2|Dilated cardiomyopathy 1II
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.