Variant (rsID / SNP)
rs281865269
rs281865269 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BEST1. Location: chromosome 11, position 61,727,022. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
BEST1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:61727022
- Cytoband
- 11q12.3
- HGVS
- NM_004183.4(BEST1):c.920C>T (p.Thr307Ile)
- Allele change
- Missense_P375S
Associated conditions / phenotypes
Retinal dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.