Variant (rsID / SNP)
rs121908011
rs121908011 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TYR. Location: chromosome 11, position 88,961,101. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:88961101
- Cytoband
- 11q14.3
- HGVS
- NM_000372.5(TYR):c.1147G>A (p.Asp383Asn)
- Allele change
- Missense_D383N
Associated conditions / phenotypes
Tyrosinase-negative oculocutaneous albinism|Tyrosinase-negative oculocutaneous albinism|Oculocutaneous albinism type 1B|Nonsyndromic Oculocutaneous Albinism|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.