Variant (rsID / SNP)

rs55868891

rs55868891 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARHGEF9. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ARHGEF9Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xq11.1
HGVS: NM_001353921.2(ARHGEF9):c.49A>G (p.Ile17Val)
Allele change: Missense_I23V

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 8

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.