Variant (rsID / SNP)

rs137853263

rs137853263 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OCRL. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

OCRLLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xq26.1
HGVS: NM_000276.4(OCRL):c.952C>T (p.Arg318Cys)
Allele change: Missense_R319C

Associated conditions / phenotypes

Dent disease type 2|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.