Variant (rsID / SNP)

rs147718368

rs147718368 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BFSP1. Location: chromosome 20, position 17,479,609. Clinical significance in the table: Uncertain significance.

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Reference-table entries

BFSP1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 20:17479609
Cytoband: 20p12.1
HGVS: NM_001195.5(BFSP1):c.812T>C (p.Ile271Thr)
Allele change: Missense_I146T

Associated conditions / phenotypes

Cataract 33

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.