Variant (rsID / SNP)
rs1126809
rs1126809 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TYR. Location: chromosome 11, position 89,017,961. Clinical significance in the table: Conflicting interpretations of pathogenicity; other.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity; other
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:89017961
- Cytoband
- 11q14.3
- HGVS
- NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)
- Allele change
- Missense_R402Q
Associated conditions / phenotypes
Oculocutaneous albinism type 1B|Temperature-sensitive oculocutaneous albinism type 1|Melanoma, cutaneous malignant, susceptibility to, 8|Skin/hair/eye pigmentation, variation in, 3|Skin/hair/eye pigmentation 3, blue/green eyes|Oculocutaneous albinism|Tyrosinase-negative oculocutaneous albinism|6 conditions|Autosomal recessive ocular albinism|Malignant tumor of breast
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.