Variant (rsID / SNP)

rs61754393

rs61754393 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TYR. Location: chromosome 11, position 89,018,021. 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: 11:89018021
Cytoband: 11q14.3
HGVS: NM_000372.5(TYR):c.1265G>A (p.Arg422Gln)
Allele change: Missense_R422Q

Associated conditions / phenotypes

Temperature-sensitive oculocutaneous albinism type 1

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.