Variant (rsID / SNP)

rs200208769

rs200208769 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BFSP2. Location: chromosome 3, position 133,119,027. Clinical significance in the table: Benign.

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Reference-table entries

BFSP2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:133119027
Cytoband: 3q22.1
HGVS: NM_003571.4(BFSP2):c.100T>C (p.Ser34Pro)
Allele change: Missense_S34P

Associated conditions / phenotypes

Cataract 12 multiple types

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.