Variant (rsID / SNP)

rs2228424

rs2228424 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FUCA1. Location: chromosome 1, position 24,192,068. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

FUCA1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:24192068
Cytoband: 1p36.11
HGVS: NM_000147.5(FUCA1):c.437C>T (p.Pro146Leu)
Allele change: Missense_P146L

Associated conditions / phenotypes

Fucosidosis

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.