Variant (rsID / SNP)

rs139124891

rs139124891 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BFSP1. Location: chromosome 20, position 17,475,592. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

BFSP1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 20:17475592
Cytoband: 20p12.1
HGVS: NM_001195.5(BFSP1):c.1125G>T (p.Glu375Asp)
Allele change: Missense_E250D

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.