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Variant (rsID / SNP)

rs267606677

BEST1

rs267606677 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BEST1. Location: chromosome 11, position 61,724,902. 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
11:61724902
Cytoband
11q12.3
HGVS
NM_004183.4(BEST1):c.680A>G (p.Tyr227Cys)
Allele change
Missense_Y227C

Associated conditions / phenotypes

Vitelliform macular dystrophy 2|Retinitis pigmentosa 50

Public references

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