Variant (rsID / SNP)

rs200127285

rs200127285 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNAO1. Location: chromosome 16, position 56,362,628. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GNAO1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:56362628
Cytoband: 16q13
HGVS: NM_020988.3(GNAO1):c.389G>A (p.Arg130Gln)
Allele change: Missense_R130Q

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.