Variant (rsID / SNP)
rs28940881
rs28940881 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TYR. Location: chromosome 11, position 88,911,122. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:88911122
- Cytoband
- 11q14.3
- HGVS
- NM_000372.5(TYR):c.1A>G (p.Met1Val)
- Allele change
- Missense_M1V
Associated conditions / phenotypes
Oculocutaneous albinism type 1B|Tyrosinase-negative oculocutaneous albinism|Hypopigmentation of the skin|Horizontal nystagmus|Hypopigmentation of hair|Iris transillumination defect|Myopia|Albinism|Nystagmus|6 conditions|Ocular albinism with congenital sensorineural hearing loss|Skin/hair/eye pigmentation, variation in, 3|Tyrosinase-negative oculocutaneous albinism|Oculocutaneous albinism type 1B|Abnormality of the skin
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.