Variant (rsID / SNP)

rs28940876

rs28940876 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TYR. Location: chromosome 11, position 88,911,363. Clinical significance in the table: Pathogenic.

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Reference-table entries

TYRPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:88911363
Cytoband: 11q14.3
HGVS: NM_000372.5(TYR):c.242C>T (p.Pro81Leu)
Allele change: Missense_P81L

Associated conditions / phenotypes

Tyrosinase-negative oculocutaneous albinism|Albinism|Oculocutaneous albinism|Inborn genetic diseases|Oculocutaneous albinism type 1B

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.