Variant (rsID / SNP)
rs137853261
rs137853261 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OCRL. Clinical significance in the table: Pathogenic.
Reference-table entries
OCRLPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Cytoband
- Xq26.1
- HGVS
- NM_000276.4(OCRL):c.1572C>G (p.His524Gln)
- Allele change
- Missense_H525Q
Associated conditions / phenotypes
Lowe syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.