Variant (rsID / SNP)
rs2234704
rs2234704 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRYAB. Location: chromosome 11, position 111,782,297. 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
- 11:111782297
- Cytoband
- 11q23.1
- HGVS
- NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu)
- Allele change
- Missense_P51L
Associated conditions / phenotypes
Fatal infantile hypertonic myofibrillar myopathy|Myofibrillar myopathy 2|Cataract 16 multiple types|Cardiovascular phenotype|Cardiomyopathy|Dilated cardiomyopathy 1II
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.