Variant (rsID / SNP)

rs587783635

rs587783635 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FOXG1. Location: chromosome 14, position 29,236,748. Clinical significance in the table: Pathogenic.

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Reference-table entries

FOXG1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 14:29236748
Cytoband: 14q12
HGVS: NM_005249.5(FOXG1):c.263_278del (p.Arg88fs)

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.