Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs199529046

BEST1

rs199529046 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BEST1. Location: chromosome 11, position 61,724,436. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

BEST1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:61724436
Cytoband
11q12.3
HGVS
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr)
Allele change
Missense_I201T

Associated conditions / phenotypes

Autosomal recessive bestrophinopathy|Retinitis pigmentosa|BEST1-Related Disorders|Autosomal dominant vitreoretinochoroidopathy|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.