Variant (rsID / SNP)

rs797045584

rs797045584 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FOXP1. Location: chromosome 3, position 71,026,115. 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: 3:71026115
Cytoband: 3p13
HGVS: NM_001349338.3(FOXP1):c.1507C>T (p.Arg503Ter)
Allele change: Nonsense_R502X

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.