Variant (rsID / SNP)
rs28562785
rs28562785 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OCLN. Location: chromosome 5, position 68,805,369. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
OCLNConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:68805369
- Cytoband
- 5q13.2
- HGVS
- NM_001205254.2(OCLN):c.452C>T (p.Ala151Val)
- Allele change
- Missense_A151V
Associated conditions / phenotypes
Pseudo-TORCH syndrome 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.