Variant (rsID / SNP)
rs61754381
rs61754381 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TYR. Location: chromosome 11, position 88,960,984. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:88960984
- Cytoband
- 11q14.3
- HGVS
- NM_000372.5(TYR):c.1037-7T>A
- Allele change
- Silent
Associated conditions / phenotypes
Tyrosinase-negative oculocutaneous albinism|Oculocutaneous albinism|Tyrosinase-negative oculocutaneous albinism|Oculocutaneous albinism type 1B|Ocular albinism with congenital sensorineural hearing loss|Skin/hair/eye pigmentation, variation in, 3|Myopia|Nystagmus|Albinism|Oculocutaneous albinism type 1B|Nonsyndromic Oculocutaneous Albinism|Abnormality of the skin|Tyrosinase-negative oculocutaneous albinism|Oculocutaneous albinism type 1B|Ocular albinism
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.