Variant (rsID / SNP)

rs61752971

rs61752971 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OCRL. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

OCRLBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xq26.1
HGVS: NM_000276.4(OCRL):c.439+3A>G
Allele change: Silent

Associated conditions / phenotypes

Developmental cataract|History of neurodevelopmental disorder|Lowe syndrome

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.