Variant (rsID / SNP)

rs74653330

rs74653330 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OCA2. Location: chromosome 15, position 28,228,553. 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: 15:28228553
Cytoband: 15q13.1
HGVS: NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr)
Allele change: Missense_A457T

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.