Variant (rsID / SNP)

rs142090709

rs142090709 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRYBA4. Location: chromosome 22, position 27,019,197. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CRYBA4Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 22:27019197
Cytoband: 22q12.1
HGVS: NM_001886.3(CRYBA4):c.40-1G>C
Allele change: Silent

Associated conditions / phenotypes

Developmental cataract|Cataract 23

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.