Variant (rsID / SNP)
rs17670506
rs17670506 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRYBB3. Location: chromosome 22, position 25,599,849. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
CRYBB3Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 22:25599849
- Cytoband
- 22q11.23
- HGVS
- NM_004076.5(CRYBB3):c.314G>A (p.Arg105Gln)
- Allele change
- Missense_R105Q
Associated conditions / phenotypes
Congenital nuclear cataract|Cataract 22 multiple types
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
