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Variant (rsID / SNP)

rs143295869

GABRG2

rs143295869 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GABRG2. Location: chromosome 5, position 161,520,969. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GABRG2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:161520969
Cytoband
5q34
HGVS
NM_198904.4(GABRG2):c.243T>A (p.Leu81=)
Allele change
Synonymous_L81L

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.