Variant (rsID / SNP)

rs183487020

rs183487020 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OCA2. Location: chromosome 15, position 28,267,700. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

OCA2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 15:28267700
Cytoband: 15q13.1
HGVS: NM_000275.3(OCA2):c.593C>T (p.Pro198Leu)
Allele change: Missense_P198L

Associated conditions / phenotypes

Tyrosinase-positive oculocutaneous albinism

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.