Variant (rsID / SNP)

rs61753185

rs61753185 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TYR. Location: chromosome 11, position 88,911,351. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TYRPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:88911351
Cytoband: 11q14.3
HGVS: NM_000372.5(TYR):c.230G>A (p.Arg77Gln)
Allele change: Missense_R77Q

Associated conditions / phenotypes

Tyrosinase-negative oculocutaneous albinism|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.