Variant (rsID / SNP)

rs16986560

rs16986560 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRYBB2. Location: chromosome 22, position 25,623,839. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CRYBB2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 22:25623839
Cytoband: 22q11.23
HGVS: NM_000496.3(CRYBB2):c.193G>T (p.Ala65Ser)
Allele change: Missense_A65S

Associated conditions / phenotypes

Cataract 3 multiple types

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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