Variant (rsID / SNP)
rs375475234
rs375475234 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GABRA1. Location: chromosome 5, position 161,277,813. 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
- 5:161277813
- Cytoband
- 5q34
- HGVS
- NM_001127644.2(GABRA1):c.-4C>T
- Allele change
- Silent
Associated conditions / phenotypes
Juvenile myoclonic epilepsy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.