Variant (rsID / SNP)
rs28940570
rs28940570 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BEST1. Location: chromosome 11, position 61,725,631. 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
- 11:61725631
- Cytoband
- 11q12.3
- HGVS
- NM_004183.4(BEST1):c.728C>T (p.Ala243Val)
- Allele change
- Missense_A243V
Associated conditions / phenotypes
Vitelliform macular dystrophy 2|Retinal dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.