Variant (rsID / SNP)

rs587783643

rs587783643 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FOXG1. Location: chromosome 14, position 29,237,284. Clinical significance in the table: Pathogenic.

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Reference-table entries

FOXG1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:29237284
Cytoband: 14q12
HGVS: NM_005249.5(FOXG1):c.799G>A (p.Gly267Ser)
Allele change: Missense_G267S

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.