Variant (rsID / SNP)
rs61753180
rs61753180 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TYR. Location: chromosome 11, position 88,911,261. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
TYRPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:88911261
- Cytoband
- 11q14.3
- HGVS
- NM_000372.5(TYR):c.140G>A (p.Gly47Asp)
- Allele change
- Missense_G47D
Associated conditions / phenotypes
Tyrosinase-negative oculocutaneous albinism|Oculocutaneous albinism type 1B|Skin/hair/eye pigmentation, variation in, 3|Ocular albinism with congenital sensorineural hearing loss|Tyrosinase-negative oculocutaneous albinism|Oculocutaneous albinism type 1B|Inborn genetic diseases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.