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Variant (rsID / SNP)

rs17670506

CRYBB3

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.