Variant (rsID / SNP)

rs140002692

rs140002692 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FYCO1. Location: chromosome 3, position 46,010,179. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

FYCO1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:46010179
Cytoband: 3p21.31
HGVS: NM_024513.4(FYCO1):c.647C>T (p.Ser216Phe)
Allele change: Missense_S216F

Associated conditions / phenotypes

Cataract 18

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.