Variant (rsID / SNP)

rs121909673

rs121909673 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GABRG2. Location: chromosome 5, position 161,520,971. Clinical significance in the table: Pathogenic.

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Reference-table entries

GABRG2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:161520971
Cytoband: 5q34
HGVS: NM_198904.4(GABRG2):c.245G>A (p.Arg82Gln)
Allele change: Missense_R82Q

Associated conditions / phenotypes

Epilepsy, childhood absence 2|Febrile seizures, familial, 8|Febrile seizures, familial, 8|Epilepsy, childhood absence 2

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.