Variant (rsID / SNP)

rs75914945

rs75914945 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GABRB3. Location: chromosome 15, position 26,793,069. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

GABRB3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 15:26793069
Cytoband: 15q12
HGVS: NM_000814.6(GABRB3):c.1293G>A (p.Arg431=)
Allele change: Synonymous_R360R

Associated conditions / phenotypes

Epilepsy, childhood absence, susceptibility to, 1|Epilepsy, childhood absence, susceptibility to, 5

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.