Variant (rsID / SNP)

rs137853260

rs137853260 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OCRL. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

OCRLPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq26.1
HGVS: NM_000276.4(OCRL):c.1499G>A (p.Arg500Gln)
Allele change: Missense_R501Q

Associated conditions / phenotypes

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.