Variant (rsID / SNP)

rs144041081

rs144041081 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TYRP1. Location: chromosome 9, position 12,704,517. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TYRP1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 9:12704517
Cytoband: 9p23
HGVS: NM_000550.3(TYRP1):c.1082-9T>C
Allele change: Silent

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.