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Variant (rsID / SNP)

rs151206295

TYR

rs151206295 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TYR. Location: chromosome 11, position 88,961,018. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TYRConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:88961018
Cytoband
11q14.3
HGVS
NM_000372.5(TYR):c.1064C>T (p.Ala355Val)
Allele change
Missense_A355V

Associated conditions / phenotypes

Tyrosinase-negative oculocutaneous albinism|Oculocutaneous albinism

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.