Variant (rsID / SNP)

rs16929374

rs16929374 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TYRP1. Location: chromosome 9, position 12,702,334. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TYRP1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:12702334
Cytoband: 9p23
HGVS: NM_000550.3(TYRP1):c.977G>A (p.Arg326His)
Allele change: Missense_R326H

Associated conditions / phenotypes

Oculocutaneous albinism type 3

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.