Variant (rsID / SNP)

rs121918405

rs121918405 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FOLR1. Location: chromosome 11, position 71,906,498. Clinical significance in the table: Pathogenic.

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Reference-table entries

FOLR1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:71906498
Cytoband: 11q13.4
HGVS: NM_016729.3(FOLR1):c.352C>T (p.Gln118Ter)
Allele change: Nonsense_Q118X

Associated conditions / phenotypes

Cerebral folate transport deficiency

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.