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Variant (rsID / SNP)

rs149787233

CRYAB

rs149787233 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRYAB. Location: chromosome 11, position 111,782,333. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CRYABConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:111782333
Cytoband
11q23.1
HGVS
NM_001289808.2(CRYAB):c.116C>T (p.Pro39Leu)
Allele change
Missense_P39L

Associated conditions / phenotypes

Cataract 16 multiple types|Fatal infantile hypertonic myofibrillar myopathy|Myofibrillar myopathy 2|Cardiovascular phenotype|Dilated cardiomyopathy 1II

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.