Variant (rsID / SNP)

rs79993581

rs79993581 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARHGEF15. Location: chromosome 17, position 8,222,870. Clinical significance in the table: Benign.

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Reference-table entries

ARHGEF15Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:8222870
Cytoband: 17p13.1
HGVS: NM_173728.4(ARHGEF15):c.2323C>T (p.Arg775Trp)
Allele change: Missense_R775W

Associated conditions / phenotypes

Early infantile epileptic encephalopathy with suppression bursts

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.