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Variant (rsID / SNP)

rs1042602

TYR

rs1042602 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TYR. Location: chromosome 11, position 88,911,696. 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
11:88911696
Cytoband
11q14.3
HGVS
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)
Allele change
Missense_S192Y

Associated conditions / phenotypes

Skin/hair/eye pigmentation, variation in, 3|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.