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Variant (rsID / SNP)

rs797045586

FOXP1

rs797045586 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FOXP1. Location: chromosome 3, position 71,021,817. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

FOXP1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
3:71021817
Cytoband
3p13
HGVS
NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His)
Allele change
Missense_R513H

Associated conditions / phenotypes

Intellectual disability-severe speech delay-mild dysmorphism syndrome|Inborn genetic diseases|Intellectual disability|See cases

Public references

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