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Variant (rsID / SNP)

rs200277476

BEST1

rs200277476 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BEST1. Location: chromosome 11, position 61,724,418. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

BEST1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:61724418
Cytoband
11q12.3
HGVS
NM_004183.4(BEST1):c.584C>T (p.Ala195Val)
Allele change
Missense_A195V

Associated conditions / phenotypes

Autosomal recessive bestrophinopathy|Retinal dystrophy|Vitelliform macular dystrophy 2

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.