Variant (rsID / SNP)

rs281865424

rs281865424 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TYRP1. Location: chromosome 9, position 12,702,424. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

TYRP1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:12702424
Cytoband: 9p23
HGVS: NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln)
Allele change: Missense_R356Q

Associated conditions / phenotypes

Oculocutaneous albinism type 3|Nonsyndromic 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.