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Variant (rsID / SNP)

rs143413500

FOLR1

rs143413500 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FOLR1. Location: chromosome 11, position 71,903,374. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FOLR1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:71903374
Cytoband
11q13.4
HGVS
NM_016729.3(FOLR1):c.157T>C (p.Leu53=)
Allele change
Synonymous_L53L

Associated conditions / phenotypes

History of neurodevelopmental disorder|Cerebral folate transport deficiency

Public references

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