Variant (rsID / SNP)

rs138260625

rs138260625 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OCRL. Clinical significance in the table: Benign.

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Reference-table entries

OCRLBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xq26.1
HGVS: NM_000276.4(OCRL):c.897G>A (p.Met299Ile)
Allele change: Missense_M300I

Associated conditions / phenotypes

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.