Variant (rsID / SNP)

rs104894130

rs104894130 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TYRP1. Location: chromosome 9, position 12,695,626. Clinical significance in the table: Pathogenic.

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Reference-table entries

TYRP1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:12695626
Cytoband: 9p23
HGVS: NM_000550.3(TYRP1):c.497C>G (p.Ser166Ter)
Allele change: Nonsense_S166X

Associated conditions / phenotypes

OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF|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.