Variant (rsID / SNP)

rs142631461

rs142631461 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRYBA1. Location: chromosome 17, position 27,576,202. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CRYBA1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:27576202
Cytoband: 17q11.2
HGVS: NM_005208.5(CRYBA1):c.74C>T (p.Pro25Leu)
Allele change: Missense_P25L

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.