Variant (rsID / SNP)

rs74315490

rs74315490 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRYBB3. Location: chromosome 22, position 25,603,036. Clinical significance in the table: Pathogenic.

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Reference-table entries

CRYBB3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 22:25603036
Cytoband: 22q11.23
HGVS: NM_004076.5(CRYBB3):c.493G>C (p.Gly165Arg)
Allele change: Missense_G165R

Associated conditions / phenotypes

Cataract 22 multiple types|Developmental cataract

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.