Variant (rsID / SNP)

rs398124203

rs398124203 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FOXG1. Location: chromosome 14, position 29,236,811. Clinical significance in the table: Likely benign.

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Reference-table entries

FOXG1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 14:29236811
Cytoband: 14q12
HGVS: NM_005249.5(FOXG1):c.326C>T (p.Pro109Leu)
Allele change: Missense_P109L

Associated conditions / phenotypes

Rett syndrome, congenital variant|FOXG1 disorder

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.