Variant (rsID / SNP)

rs281865261

rs281865261 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BEST1. Location: chromosome 11, position 61,727,005. Clinical significance in the table: Pathogenic.

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Reference-table entries

BEST1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:61727005
Cytoband: 11q12.3
HGVS: NM_004183.4(BEST1):c.903T>G (p.Asp301Glu)
Allele change: Missense_M369R

Associated conditions / phenotypes

Retinal dystrophy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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