Variant (rsID / SNP)

rs281865277

rs281865277 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BEST1. Location: chromosome 11, position 61,727,036. 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: 11:61727036
Cytoband: 11q12.3
HGVS: NM_004183.4(BEST1):c.934G>A (p.Asp312Asn)
Allele change: Synonymous_S379S

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.