Variant (rsID / SNP)

rs137853848

rs137853848 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OCRL. The table records no clinical significance for this variant.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

OCRLNot classified

Variant type: single nucleotide variant
Cytoband: Xq26.1
HGVS: NM_000276.4(OCRL):c.1123C>T (p.His375Tyr)
Allele change: Missense_H376Y

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.