Variant (rsID / SNP)

rs117757092

rs117757092 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRYBA1. Location: chromosome 17, position 27,580,775. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CRYBA1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:27580775
Cytoband: 17q11.2
HGVS: NM_005208.5(CRYBA1):c.475G>A (p.Gly159Ser)
Allele change: Missense_G159S

Associated conditions / phenotypes

Cataract 10 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.