Variant (rsID / SNP)

rs796052472

rs796052472 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FOXG1. Location: chromosome 14, position 29,237,530. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FOXG1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 14:29237530
Cytoband: 14q12
HGVS: NM_005249.5(FOXG1):c.1045T>G (p.Ser349Ala)
Allele change: Missense_S349A

Associated conditions / phenotypes

Rett syndrome, congenital variant

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.