Variant (rsID / SNP)

rs121918167

rs121918167 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OCA2. Location: chromosome 15, position 28,116,316. Clinical significance in the table: Pathogenic.

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Reference-table entries

OCA2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:28116316
Cytoband: 15q13.1
HGVS: NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu)
Allele change: Missense_P719L

Associated conditions / phenotypes

Tyrosinase-positive oculocutaneous albinism|Nonsyndromic Oculocutaneous Albinism|Skin/hair/eye pigmentation, variation in, 1|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.