Variant (rsID / SNP)

rs3750344

rs3750344 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GABBR2. Location: chromosome 9, position 101,340,316. Clinical significance in the table: Benign.

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Reference-table entries

GABBR2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:101340316
Cytoband: 9q22.33
HGVS: NM_005458.8(GABBR2):c.360A>G (p.Ala120=)
Allele change: Synonymous_A120A

Associated conditions / phenotypes

Epileptic encephalopathy

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.