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Variant (rsID / SNP)

rs267606676

BEST1

rs267606676 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BEST1. Location: chromosome 11, position 61,724,904. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BEST1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:61724904
Cytoband
11q12.3
HGVS
NM_004183.4(BEST1):c.682G>A (p.Asp228Asn)
Allele change
Missense_D228N

Associated conditions / phenotypes

Retinitis pigmentosa 50|Retinitis pigmentosa|Retinal dystrophy

Public references

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