Variant (rsID / SNP)

rs886041715

rs886041715 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNAO1. Location: chromosome 16, position 56,226,265. Clinical significance in the table: Pathogenic.

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Reference-table entries

GNAO1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:56226265
Cytoband: 16q13
HGVS: NM_020988.3(GNAO1):c.118G>T (p.Gly40Trp)
Allele change: Missense_G40R

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.