Variant (rsID / SNP)
rs769743354
rs769743354 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GABRA1. Location: chromosome 5, position 161,281,183. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
GABRA1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:161281183
- Cytoband
- 5q34
- HGVS
- NM_001127644.2(GABRA1):c.94C>T (p.Gln32Ter)
- Allele change
- Nonsense_Q32X
Associated conditions / phenotypes
Developmental and epileptic encephalopathy, 19|Epilepsy, idiopathic generalized, susceptibility to, 13|Epilepsy, childhood absence 4|Idiopathic generalized epilepsy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.