Variant (rsID / SNP)

rs1800007

rs1800007 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BEST1. Location: chromosome 11, position 61,719,387. Clinical significance in the table: Benign.

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Reference-table entries

BEST1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:61719387
Cytoband: 11q12.3
HGVS: NM_004183.4(BEST1):c.109T>C (p.Leu37=)
Allele change: Synonymous_L37L

Associated conditions / phenotypes

Retinitis pigmentosa|Autosomal dominant vitreoretinochoroidopathy|Vitelliform macular dystrophy 2|Autosomal recessive bestrophinopathy|Retinitis pigmentosa 50

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.