Variant (rsID / SNP)
rs61754392
rs61754392 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TYR. Location: chromosome 11, position 89,018,011. Clinical significance in the table: Pathogenic.
Reference-table entries
TYRPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:89018011
- Cytoband
- 11q14.3
- HGVS
- NM_000372.5(TYR):c.1255G>A (p.Gly419Arg)
- Allele change
- Missense_G419R
Associated conditions / phenotypes
Tyrosinase-negative oculocutaneous albinism|Nonsyndromic Oculocutaneous Albinism|Oculocutaneous albinism type 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.