Variant (rsID / SNP)

rs121918361

rs121918361 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARHGEF9. Clinical significance in the table: Pathogenic.

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Reference-table entries

ARHGEF9Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq11.1
HGVS: NM_001353921.2(ARHGEF9):c.185G>C (p.Gly62Ala)
Allele change: Missense_G68A

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.