Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs200643313

FOXP1

rs200643313 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FOXP1. Location: chromosome 3, position 71,247,426. Clinical significance in the table: Conflicting interpretations of pathogenicity.

Reference-table entries

FOXP1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:71247426
Cytoband
3p13
HGVS
NM_001349338.3(FOXP1):c.107G>A (p.Arg36Gln)
Allele change
Missense_R36Q

Associated conditions / phenotypes

History of neurodevelopmental disorder

Public references

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