Variant (rsID / SNP)

rs375378714

rs375378714 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FOXG1. Location: chromosome 14, position 29,236,974. Clinical significance in the table: Benign.

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Reference-table entries

FOXG1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 14:29236974
Cytoband: 14q12
HGVS: NM_005249.5(FOXG1):c.489C>T (p.Gly163=)
Allele change: Synonymous_G163G

Associated conditions / phenotypes

Rett syndrome, congenital variant|History of neurodevelopmental disorder|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.