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Variant (rsID / SNP)

rs532329866

FOXP1

rs532329866 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FOXP1. Location: chromosome 3, position 71,247,489. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FOXP1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:71247489
Cytoband
3p13
HGVS
NM_001349338.3(FOXP1):c.44C>T (p.Ala15Val)
Allele change
Missense_A15V

Associated conditions / phenotypes

History of neurodevelopmental disorder|Intellectual disability-severe speech delay-mild dysmorphism syndrome|Cerebellar vermis hypoplasia|Intellectual disability-severe speech delay-mild dysmorphism syndrome|Congenital cerebellar hypoplasia

Public references

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