Variant (rsID / SNP)

rs1801390

rs1801390 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BEST1, FTH1. Location: chromosome 11, position 61,727,438. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

BEST1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:61727438
Cytoband: 11q12.3
HGVS: NM_004183.4(BEST1):c.1023C>T (p.Pro341=)
Allele change: Missense_P409L

Associated conditions / phenotypes

Autosomal dominant vitreoretinochoroidopathy|Iron Overload|Vitelliform macular dystrophy 2|Retinitis Pigmentosa, Recessive|Retinitis pigmentosa

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.