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Variant (rsID / SNP)

rs139944598

BFSP2

rs139944598 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BFSP2. Location: chromosome 3, position 133,191,280. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BFSP2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:133191280
Cytoband
3q22.1
HGVS
NM_003571.4(BFSP2):c.1115C>T (p.Ala372Val)
Allele change
Missense_A372V

Associated conditions / phenotypes

Cataract 12 multiple types

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.