Variant (rsID / SNP)

rs869025203

rs869025203 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FOXP1. Location: chromosome 3, position 71,021,818. Clinical significance in the table: Pathogenic.

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Reference-table entries

FOXP1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:71021818
Cytoband: 3p13
HGVS: NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys)
Allele change: Missense_R513C

Associated conditions / phenotypes

Intellectual disability-severe speech delay-mild dysmorphism syndrome

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.