Variant (rsID / SNP)

rs76323117

rs76323117 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRYGB. Location: chromosome 2, position 209,010,575. Clinical significance in the table: Benign.

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Reference-table entries

CRYGBBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:209010575
Cytoband: 2q33.3
HGVS: NM_005210.4(CRYGB):c.175C>T (p.Arg59Trp)
Allele change: Silent

Associated conditions / phenotypes

Cataract 39 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.