Variant (rsID / SNP)
rs587777308
rs587777308 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GABRA1. Location: chromosome 5, position 161,300,202. 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
- 5:161300202
- Cytoband
- 5q34
- HGVS
- NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln)
- Allele change
- Missense_R112Q
Associated conditions / phenotypes
Developmental and epileptic encephalopathy, 19|Epilepsy, childhood absence 4|Idiopathic generalized epilepsy|Epilepsy, idiopathic generalized, susceptibility to, 13|Inborn genetic diseases|Seizure|Epilepsy, idiopathic generalized, susceptibility to, 13|Developmental and epileptic encephalopathy, 19
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.